Well, That's done (MRI Spine/Brain)

Today was Thomas' scheduled MRI on his spine at Children's Healthcare of Atlanta - Egleston.  I was quite anxious about the procedure itself since I myself have never had a MRI and the fact that he would have to be sedated.  The day before a nurse from the department called me and chatted and she helped to reassure me and to calm my fears.  Luckily, we had to be there at 8am! I truly love early appointments for procedures, surgeries or tests.  It is so much easier to pick up a sleeping baby and throw them in the car and head straight there then to have them play and run around asking for food or drink they can't have.  Not to mention there is usually no wait and everyone is running on time. 

This morning went great! We were up and out, minimal traffic and there on time.  It only took me a hour with getting gas on the way.  While we were being prepped this fabulous doctor came in, Dr. Bob as they referred to him.  He has some crazy hair that made me giggle on the inside.  Over the last few months I have learned to cope with going through these procedures and test alone with just me and my little man.  So, I usually find things to entertain me and this man did just that.  I felt like I was a kid myself.  We discussed his recent cough and how it may cause the sedation to not be a good choice at this time.  I was adamant that his cough had improved due to the breathing treatments and the only reason why he was coughing now is because they had upset him so.  I also mentioned that we would be back next week for a MRI on his brain for the neurologists.  He trusted my judgement on the cough but said that at any moment did he feel that Thomas would be endanger he would quit immediately.  Of course, I agreed and thanked him.  Then he proceeded to tell me that he would see if they could go ahead and do his brain today to prevent him from being sedated again.  My heart skipped a beat!! That was plan all along, but after making numerous phone calls and pleas the answer was always 'no ma'am we can't do that'.  Dr. Bob left the room and spoke with some people.  He ran back by, "we just need authorization from insurance cross your fingers."  I was so getting my hopes up, something told me that it was all going to be just fine and work out in our favor.  I was quite calm.  It also helps that they have fabulous nurses who are always there asking me if I need anything and what they can do for Thomas.  I make instant friends with each of them, but its unusual for me to contect with a doctor in such a way.  Finally, Dr. Bob popped back in the room and said we were a go.  Then he and the nurse discussed the IV and was ready to go.  He was ready before the room was. 

Thomas truly detested the IV being put in, as any of us do.  But they had put the numbing cream on both of his hands for quite a while in an effort to ease his pain.  Once it was on they covered it with a diaper to try to keep his mind of it.  Yeah right, they don't know Thomas.  Thomas didn't want a name band on, Thomas didn't even want to be weighed.  They literally had to weigh me holding him and then get my weight without him.  Once they were ready though, they gave him the good stuff and he went limp in my arms.  It was the craziest feeling I have ever had.  Away he went and then I was alone in that room to wait.  I was extremely proud of myself though, today I got up and went to the cafeteria to eat and make phone calls.  They said it would be at least 45 minutes to a hour so I knew I could be gone at least thirty minutes without having to feel frantic.  I never want to leave where they left me with my child.  I am always scared something will happen and I won't be there or back fast enough.  I want to be there the minute they bring him back because I know he knows his mommy is there.  I also have a fear of getting lost in the hospital and looking stupid.  I am working on that though!

He came back right on and slept for about fifteen more minutes.  Then he opened his eyes and looked at me, smiled and closed them again.  It was so beautiful.  A few minutes later he opened his eyes and began to talk to me.  So I scooped him up to hold him and he saw his beautiful balloon that the nurses had brought me while I was waiting.  He was so happy!!  It was much better than when he comes out of anesthesia from surgery.  He immediately started drinking his juice from the nurse and chowing down on his crackers.  They took out his IV when they saw his smiling face and off we went.  It was a long morning, but I am so relieved to have it done since I have been dreading it for so long now.  Love living here and so grateful for the Children's Hospital and all of the angels that work for them!!

After coming home you would have never known what all we had been through this morning except for the small bruise he has on his little hand from the IV.  The results will be provided to the ordering doctors in two business days was what I was told.  So, I am assuming I won't hear anything from either of them until Friday possibly Tuesday due to the holiday.  Not sure how much I will learn over the phone anyway as I am sure the Orthopedic Surgeon will want an appointment to discuss the results and I am fine with that as I feel that we will need to discuss it in more detail if possible.  He will also be able to now provide clearance for his surgery so I will need to get that rescheduled in the coming weeks. 

We have an appointment with the neurologists on Wednesday of next week.  I don't have any expectations as of yet for this appointment.  I am so grateful that thanks to Dr. Bob, the neurologists will already have the MRI results of Thomas' brain to help him out with any additional information that he may need or to rule out any suspensions.  (On a side note, eventually I will be able to spell neurologists without having to correct it with the spell checker) 

I could go really deep into some stuff right now, but I will spare you tonight.  Just know that I have a renewed spirit with my Lord and a new angel on my side.  Thomas is going to do great things in this life even with his imperfect vessel.

2 Corinthians 5:1 Now we know that if the earthly tent we live in is destroyed, we have a building from God, an eternal house in heaven, not built by human hands.

Hearing Tests - Check

Thomas and I had a wonderful visit first thing this morning at Scottish Rite to meet with Audiology.  We discussed the new possible diagnosis and how Duane Syndrome and Wildervanck are linked to hearing loss.  We also discussed the fact that he has been evaluated as having a speech delay and is recommended to speech therapy.  So, she went through some very specific intense testing of his hearing and everything shows that the tubes are open and working and he is hearing the four main frequencies necessary for speech.  She also explained that at this time we cannot determine if the tubes are a temporary fix for his hearing issues.  We know that for now the tubes are working and he can hear. 

She did recommend a hearing check every three months in order to catch any issues before they affect development again.  We both assume once the tubes begin to fail that he will loose his hearing.  So, the sooner we can catch it then we can fix it and prevent any secondary delays.

I really liked her and the way they conducted themselves in testing my baby.  Although I am not happy that it takes me over a hour to get to that location, I am really tempted to make all of his hearing test at that location.  You cannot put a price on a mother's trust and confidence in the people working with her child.

On another note, I have everything ready to go for my kit back to Boston.  I just need to fill the last tube with Thomas' saliva.  I have been putting that one off since it took quite a while to collect it from the older boys.

Thank you for the prayers and support!! It is a relief to know that my baby is hearing us completely at this time!!!

"Wildervanck Syndrome" may be our label

Again, I want to say "What's in a name?"  Especially if its a name that no one is familiar with or have heard of before.  It helps explain nothing to most of us.  How is he? Good.  What do they think it is? Wildervanck Syndrome.  What's that? A rare birth disorder involving hearing loss, fusion of vertebrae and eye movement abnormalities.  Have they confirmed it? Not yet, but with syndromes it currently seems to be the best fit at this time.

Wildervanck - Basically the triad of Duane Syndrome, Klippel-Feil deformity of the spine (neck fusion) and hearing loss, which can also have additional related anomalies.  In 70% of patients, DS is the only disorder the individual has. However, other conditions and syndromes have been associated with DS. These include malformation of the skeleton, ears, eyes, kidneys, and nervous system, as well as the following: Okihiro syndrome (an association of DS with forearm malformation and hearing loss), Wildervanck syndrome (fusion of neck vertebrae and hearing loss), Holt-Oram syndrome (abnormalities of the upper limbs and heart), morning-glory syndrome (abnormalities of the optic disc or blind spot), and Goldenhar syndrome (malformation of the jaw, cheek, and ear, usually on 1 side of the face).

I received the consult report today from the genetics specialists that we saw a couple of weeks ago. I didn't want to mention an actual syndrome name until I had further confirmation that it is a real possibility.  Based on the genetics specialists extensive research her report states that the suspected syndrome is indeed Wildervanck, also known as cervico-oculo-acoustic syndrome.  In Wildervanck syndrome, several hallmark features include short stature and hearing loss, both of which Thomas has although he clearly has other findings some of which can be seen with this disorder as well. Because his larger constellation of findings can certainly be seen with chromosome deletions, duplications, or extra or lost chromosomes, the first order of investigation will be to complete a chromosome MicroArray study. This along with the MRI of his brain and updated hearing tests will allow her to review these test results and confirm our suspicion that Wildervanck syndrome is the diagnosis for his overall condition.  She did note that he has 4th and 5th toe clinodactyly bilaterally, which is the new characteristic that she found and has now been added to his list of features. 

Trying to research Wildervanck feels like chasing a rabbit through his rabbit holes.  I will find one article referencing a case study and then find more medical terminology which leads me to another search.  The information is so limited that there is basically one definition found over and over again and then random case studies published by doctors with patients showing Wildervanck symptoms.  Each case is very, unique and different.   


So, let's say for sure its Wildervanck, what does this really mean?  Well, upon completion of the test and our genetics specialists further her investigation, we will have a follow up appointment in the next three to four months where she will explain the prognosis.  The doctor from Boston confirmed that she has other patients stating Wildervanck and that they would be able to do a side by side comparison of their DNA structure to help determine similarities and differences.  From my understanding so far, it is not hereditary but instead spontaneous and sporadic.  Complications of Wildervanck syndrome are secondary conditions, symptoms, or other disorders that are caused by Wildervanck syndrome which we will need to monitor.


Honestly though, I feel as though nothing has changed.  There are no special support groups for his syndrome, walks for the cause or specialists who know how to monitor his situation specifically, etc.  So, there is really no relief as I had hoped in naming the issues at hand.  Maybe it will mean something eventually, but currently I don't know. Although its not realistic, I was almost hoping the report would say that I am a crazy mom who is making symptoms up for my son to get attention and that I need therapy to let it go!!  Just to let you know where my mind goes sometimes.  Instead, I got more confirmation that these are real issues and another specialists confirms the symptoms and has a suspect syndrome in order to help define what we can to provide him the best health care options.


Tomorrow morning we go for another hearing test to try and determine if the tubes are working for his hearing loss and if so how well.  Based on our information the tubes may only be a temporary fix, but we will deal with those obstacles as they come.  I will let you know tomorrow how it goes and if I know anything more.  Please pray that he is calm and cooperates so that we can get some good results.  Thank you!

Reality

It never fails the minute I get swept up in the moment or feel as though I am living again, reality shows up and reminds me that things aren't quite as they seem.  I know this phase is temporary and once we get through this it will be better.  One day soon, we will know for sure what Thomas is dealing with and how to monitor him and just live again!!  I will be able to breathe without holding my breath.  I will quit having to brace myself for the next thing that is coming.  The last couple of months have trained me to behave like this as sad as it is to say.  We, the doctors and I, don't even go looking for things where Thomas is concerned, they are just casually discovered.  I think it was God's plan to slowly unfold his imperfections to us in a very interesting and meticulous manner. 

I am always grateful for his smiling face and happy demeanor, while the questions and uneasiness is unsettling inside.  I watch him play and learn and do new things that are wonderful and amazing daily! Then think in a couple of weeks he will have a MRI on his spine and brain.  The procedure unnerves and the results scare me to death.  Again, reality keeps coming back to me.  I try to downplay that he is fine and there really isn't anything going on but there is.  His laugh makes my heart smile and just to watch him is amazing.  There are many other mother's who are going through their own struggles with their children whose problems are much greater than mine and my heart aches for them tremendously.  Especially during this holiday season when the focus is to bring magic to your children and fill your homes with love, hope and faith.  For me this holiday season is a wonderful time to teach my children the importance of faith, praying, and what all God has done for us.  I cannot imagine how much worse I would feel if I didn't have my faith in our Father God.  Being a Christian doesn't mean you don't have bad days or get depressed when things in life get messy and complicated.  What is does mean though is that there is always a happy ending, as God will always take care of his children.

Today, I had no plans.  Imagine that! If you knew me you would know that is absolutely insane.  I quickly remembered that our Pediatrician office was having a Christmas party so I dressed the kids and off we went.  It was a wonderful experience to see all of the doctors and nurses playing games, putting on tattoos, serving food.  All of them loving on your kids and asking them how they are.  They inquired about Thomas and pointed out my oldest nasty cough.  We road the train and saw the fire truck.  It was an amazing good time with people I have come to know, love and trust.  Then we came home to put up another tree, the Christmas village, make a Gingerbread house and other Christmas preparations.

In the midst of all of this, a package came in the mail today.  It was my today's reality:

Our kit from Boston arrived.  I thought it was interesting enough to share with you all as I have never actually seen a DNA kit.  There is one for each of us with specific instructions and a stack full of paperwork.  Looks like I will be busy for the next couple of nights making sure I get everything thoroughly completely and signed in all the right places.  I have so much hope that this will help provide not only answers for us but hopefully to many others.  It truly is surreal how much our technology has changed and evolved to allow us to even participate in something like this with a few swabs. 

It is my hope and prayer that each of you who take the time to read my blog, think of us and pray for us, will feel the true magic of the Christmas season.  The amazing story of the birth of Christ Jesus from the beginning to the end.  God walked on the dirt that we walk on today and he knows your reality.  He knows your heart, let him in.  He will comfort you while you cry, he will heal you where it hurts and he will be there in your stillness.  

"For unto us a child is born, unto us a son is given: and the government shall be upon his shoulder: and his name shall be called Wonderful, Counsellor, The mighty God, The everlasting Father, The Prince of Peace." Isiah 9:6

Add it to the list. . . more therapy. . .

Thomas and I went in for a full speech evaluation today at the recommendation of our Pediatrician.  For the last two to three check ups he has not been saying as many words as she would like.  So, we went through the testing and spent the session discussing history and issues.  The best part about today's session is that at the end she was able to review the recommendations with me immediately, so I don't have to wait to see the results.  Of course, her report will be more detailed when I get it, but I know where he stands.  He isn't terrible, but he could be doing a lot better.  He is below average for his responsive language but is doing well and for his expressive language is lower on the scale and could use some work.  Most children don't have much discrepancy between the two, but she believes that his delays are based on the periods of time where his hearing was effected.  The good news is she believes that this will not be a long term therapy for him.  She explained that with speech therapy we can work on his motor skills and get him caught up and she truly believes once he catches on that he will take off and will no longer need it. 

Another suggestion she made was to discuss getting him into some Occupational Therapy with our current physical therapists.  I don't know enough about OT and how it differs from PT, but the way she was discussing it she was concerned more about his safety being an issue and how OT would benefit him.  Its worth asking about.  While I don't want to add more things to the list of medical needs nor financial obligations, I do want to do all I can for him now while he is little and still developing.

I went into the evaluation not sure he really needed it to be honest, but wasn't shocked with the outcome either.  I have come to expect that when we have him evaluated or checked for something 9 times out of 10 he has it or needs it.  To me he is my 19 month old who babbles with a word here or there.  He communicates fairly well with minor tantrums.  He is picking up sign language easily and I love being able to communicate with him in that fashion.  But in our discussions I realized that he really could be doing more and I don't want him to be at a disadvantage in an area that he doesn't have to be.  There are enough challenges that may cause issues for him now or later down the road for him to have to overcome.

On a personal challenge, I have been a bit frustrated lately with life throwing balls at me some being my fault some not.  Then one thing after another with Thomas, I just wanted to scream at the top of my lungs "Stop!, doesn't anyone know its Christmas time? I am suppose to be shopping and giddy with excitement."  Most times I can distract myself with decorations, playing or reading with the kids, but with two crappy days back to back it just brought me down.  I decided it was time for a good pity party.  So, this afternoon I grabbed some pieces of chocolate and laid in my bed while watching drama television.  I was thinking about all the therapist had said to day and thinking about the doctor's report I got today.  It explained in more detail his spine issues and even another diagnosis that no one has yet to mention to me.  I got furious!!  Why didn't someone tell me? Is it not important?  Should I be concerned?  Why am I looking up medical terms I don't know?  I am seriously not trying to make a mountain out of a mole hill here.  I don't like drama, I don't know what to say to others all the time.  I am not a doctor or a nurse, I went into business and finance.  UGH!  

My afternoon finally was coming to a close and I got to talk to my mommy.  I vented and ranted and whined about all that had happened to me and all the information I had gotten and what it all means.  She stopped me and told me to look at Thomas.  Thomas at the time was taking Daddy's metal shoe horn and was tapping it against all of the pieces of furniture around me and giggling.  Its the sweetest sound!  When you look at him you see none of this, you see a happy child learning and loving everything about his life.  She gave me some great advice which was to "accept it."  I need to just accept that the doctors and therapist are going to discover all the things that are not normal in my son and that it is going to be okay.  God gave me Thomas as a special gift and he will always have these challenges.  He is a special child.  It is not going to be easy but God will equip me if I ask.  I thought I had accepted it, but today I realized maybe I had not because when she said it I thought it was a great idea.  I was still fighting it, fighting it all maybe even denying it. 

Tonight, I may still finish off with my pity party but then I will work towards acceptance.  True acceptance.  I know my prayers will change as my journey changes as I am always learning how to be a better follower of Christ. 

"Do not be anxious about anything, but in everything by prayer and supplication with thanksgiving let your requests be made known to God. And the peace of God, which surpasses all understanding, will guard your hearts and your minds in Christ Jesus. Finally, brothers, whatever is true, whatever is honorable, whatever is just, whatever is pure, whatever is lovely, whatever is commendable, if there is any excellence, if there is anything worthy of praise, think about these things." Phil 4:6-8

This picture just happened to fit for today. 
Thomas likes to say prayers with us and today he
wanted to pray over his peaches. 
Just too darn cute not to get a picture of.

Those Baby Blues. . .

Today we had an appointment with our pediatric ophthalmologists, otherwise known as the eye doctor.  He is extremely familiar with Duane Syndrome and has published several articles and done many studies.  While in the medical world and from the intellectual side of things that is wonderful, there is the other side I like just as much.  His personality and mannerisms with me and my child.  He is intently staring into my child baby blues while singing, clicking, waving a toy to make them move in every direction.  It is entertaining and fascinating all at once.  After a couple of minutes of this he sits back and tells me how wonderful he looks.  The doctor explained that he looks the best he has yet since being seen by him.  His eyes have found their natural alignment in the center, which means that middle muscle has relaxes as it was suppose too to allow the eyes to look straight when he is looking straight.  In the world of Duane Syndrome that is the best that it gets!!  If the eyes are not lined up properly then surgery is usually an option to try to line them up.  This is extremely risky as with Duane Syndrome there is no way of knowing how the nerves are wired.  So, cutting the muscle in a certain area may cause a dramatic opposite reaction than expected, which then leads to possibility of multiple surgeries in an effort to fix it.  We don't know how the nerves are wired in his eyes.

I was excited to hear how excited he was at the progress that his eyes had made on their own with no intervention.  God is amazing!!  I then proceed down my list of questions that I had brought with me and he smiled and went through each one with me.  Each one was a positive and reassuring response with information and knowledge to back them up.  If he didn't know, he would say so and that was appreciated as well.  While there is no cure for Duane Syndrome and his eyes will never turn outward towards his ear, his eyes and his brain have been working together since birth to compensate.  He also said that most children born with this condition do not suffer from double vision because the brain figures out how to shut down the eye that isn't working properly to prevent it.  The goal is to have binocular vision most of the time.

Thomas has figured out the best position for him is with his head tilted to the right.  The doctor explained that its important for people with Duanes to find that place that allows them to see more clearly.  That is his spot!  He said the head tilt is no more dramatic than any other person as he points out how I am tilting my head listening to him.  He also explained how he is not as hindered as most would think.  If someone calls your name and you turn to look at them, you don't turn your eyes to them.  You naturally turn your head to look at them.  So it many ways, he is still going to react normal or look like he is when he is compensating.  We discussed the impact of the neck fusion and he assured me that this too would be something that would not hinder him enough to make a dramatic difference.  He also stated that he didn't see any reason why he would have any neck or back pain at this point.

He then dilated his eyes and we waited to be seen again.  As soon as he shined the light through the lens into my child's eye he stated how beautiful they were.  A couple more steps and he stated "no glasses".  What a relief!!  The nerves in his eyes look strong and healthy and everything is functioning properly.  We discussed a couple of more things, updated his medical information, mentioned the possible syndrome and he said as far as his eyes were concerned he was doing wonderful.  We go back in six months for monitoring.

My little boy is so beautiful in so many ways from the silky feel of his hair, those deep blue eyes when they are staring intensely or even his smile that uses every muscle in his face.  He knows nothing different than this and he is so happy and enjoys so much!!  While I worry and stress about the unknown factors, the appointments, etc., it all melts away in the moments that I am near him.  Tonight I had a  Christmas dinner with some great friends at the church and it was so wonderful to sit like a lady, enjoy a meal with great conversation and then a musical concert after wards.  I was completely swept away and it was the closest thing to getting a break from it all in quite a while.  But as I sit here my highlight was when I went and got my three smiling boys to take them home.  Thomas looked up at me and squealed with his whole body going tense.  He then jumped up my arms practically on my face and took both of his little hands and squeezed me.  I then proceeded to get three to four more squeezes from him as we proceeded out to the car.  Never doubt that his love is immense!!     He is happy, he is strong, and he will overcome any challenges he may face.  And I, his mommy, will always be right there behind him being his loudest and biggest cheerleader.

Many things have happened to me and around me in my life.  Things that are painful, embarrassing, ugly and tragic, but all of them have prepared me and led me to this place.  I would have never become the woman that I am today if it weren't for the journey that I have been on.  While we can never see clearly how the end is going to look like, we should always have faith that in the end God will prevail and his will shall be done.  Many feelings, thoughts and emotions are provoked in me as I heal from things and move past them to focus on my steps now.  I know alone I am not strong enough, but with God anything is possible.  You can be strong enough too, if you allow him in.  Today was a good day.  It was long, it was ran on little sleep, but I feel lifted.

Thomas with his eyes dilated today

Boston is Interested and I'm Excited!!!

So, it seems that a day doesn't go by that I don't talk to a doctor or nurse, about tests, scheduling, billing, etc.  But today was a little different, because you see today I talked with the contact person at Engle Laboratory.  Engle Laboratory is an HHMI molecular genetics and developmental neuroscience research lab at the Children's Hospital Boston and affiliated with Harvard Medical School.  

I had originally contacted her back in October because in my fabulous googling abilities I was able to find a lot of information on their site that defined Duane Syndrome.  Currently they are working on a research study for clinical and genetic studies of complex eye movement syndromes called the Congenital Cranial Dysinnervation Disorders (CCDDs).  In case you were wondering, Duane Syndrome is a CCDD.  Okay, so now that you have a background that doesn't mean that much to you except probably some key words like research and Harvard.  

Our family is enrolling in their study.  How is awesome is that!!  We have been invited to be a part of this great study to try and identify the genetic mapping of Duane Syndrome and their related Syndromes.  Yes, you heard me right, they are very familiar with the related syndromes and are testing those as well.  After coming home from seeing the genetics specialists on Tuesday, I made the final decision to enroll.  When you read the consent form it can spook you on the ramifications of enrolling in such a research program.  I know that they have to disclose as much as possible to you, but I truly believe this will be more of a benefit to us and possibly to many others than harmful to us.  

I sent the contact person a message about enrolling and then inquired about if their team would be able to help us confirm the syndrome that we suspect Thomas carries.  I thought we as much knowledge as they have acquired they could at least point me in the right direction or help confirm what we find genetically.  She promptly answered me with several questions, which I was able to answer immediately.  She then proceeded to talk with Dr. Engle about Thomas' case and discuss a plan for us.  I couldn't believe she went and talked directly to Dr. Engle the head of the laboratory in which it is named.  Dr. Engle recommends that we go ahead and participate in the research study first as they are about to target a few other families that they have enrolled (in which there is a family member affected with the same suspected syndrome) for exome sequencing-basically, they can look at all the genes that make up Thomas' DNA and look at possible shared mutations with other individuals who have the same clinical findings.  Then when they have a finding Dr. Engle would recommend I be contacted and have Thomas travel to Boston for a detailed evaluation at which time they could also offer confirmatory testing such that our testing result could be reported back to our genetic counselor, as required.

I was elated!!!  To think that they could take the DNA from Thomas and create a map of it and then compare is side by side with other maps with similar symptoms.  As rare as Duanes is, the suspected syndrome is even rarer.  This would by far be the closest type of testing that we can do to confirm in a more black or white setting the syndrome Thomas has.  This would allow us to be more informed on his current condition, his prognosis and best way to plan out his care throughout the duration of his life.  Not to mention the continued research information we would be providing to the program.  A program that has already identified several genes linked to Duane Syndrome.  Its funny how the things that make you happy change as circumstances and life around you changes.

When I shared this information with my husband, I think all he heard was go to Boston because he started to share his concern about costs.  I realize this is the typical male response as he is the breadwinner for our home and finances have gotten a bit tight with the medical bills coming non stop.  However, enrolling in the research study is free to us.  As for the flight and the actual clinical visit, I am not sure but we have a lot of people who are really stepping up and are wanting to help us beyond the prayers. This brings me to another exciting event I must share with you.

I hope you all can pull up this link as it is an event sent up through Facebook, if not you can try to cut and paste.  I am still new at this blog stuff.  But we have some sweet friends who are offering discounted golf rounds with a portion going to a medical fund for us to continue to help pay for Thomas medical bills.  They are also accepting new or used golf equipment to sell.  

Tee Time 4 Thomas

http://www.facebook.com/events/146474042125721/

My hope is that once the discovery phase is complete the maintenance will not costs as much, but I may be naive on that point.    We have also started looking into applying for the Medcaid/Katie Beckett program, but its a long stressful process and there are no guarantees.  

We have such an amazing support system it brings tears to my eyes!!  Again, I say this is all Father God's plan and he is going to take care of us!!  Every note, every card, and every hug touches my soul and on the harder days that is what lifts me up.  I just can't thank you enough.

Next up. . . eye doctor on Monday. 

“The Lord will give grace and glory; no good thing will He withhold from those who walk uprightly.” Psalms 84:11

Thomas at school with mommy today!  19  months old and 1 day

What's in a name?

Today, I had the pleasure of meeting a Genetics Specialists based out of Atlanta.  She is highly sought after by many in different states for answers to the rare and unusual disorders and syndromes.  I was highly impressed with the amount of detail, attention and time that she took with Thomas and me.  We started out with her asking a few questions to clarify the doctor's notes she had received and the questionnaire I had completed.  She had already done some research had an idea of what syndrome explains Thomas' issues.  She immediately said that while she has an idea she doesn't want to spend the hour together explaining the syndrome and what it means until we had more conclusive information confirming the syndrome.  She has found in past experience that spending the hour explaining the syndrome and detail and then finding out it was a misdiagnosis ends in a wasted hour and a parent spending time anxious about something their child doesn't even have.  So instead, she mentioned the syndrome and then we moved forward with what tests we will be doing to get more conclusive results.

First off, there is no test for such syndrome.  You basically look at the possible symptoms listed for that syndrome and then see how perfectly your child fits into it.  If there is one issue that doesn't fit then it is better to keep looking rather than sticking that label to the child.  Its hard to have a label removed once it has been diagnosed.  We will be moving forward with genetic testing.  Simply explained, they will take a sample of his blood to divide his cell up and look at a map of his chromosomes.  From this they can determine if there are any missing or any duplicates.  This can provide us some direction as to what was missing or altered during development, however, it is no definitive.  For example, we can learn that he is missing number 5 but there is no conclusive research as to what number 5 is linked too.  We can rule some things out and we can define some things, but the hope is it will help make a better picture of where we are and help define his syndrome.

She also agreed with the other steps that I have already initiated in his medical testing, such as the MRI on his brain.    This is something she was going to recommend herself.  Again, this is a test that could show us nothing or possibly show us something.  It could show us some physical elements that did not complete during development and therefore defining some of his issues.  But it could also show us that physically everything in his brain developed properly and has connected as it should.  I know for a fact that Duane Syndrome is caused by the absence of cranial nerve VI, but I don't know if that will show up on the MRI.  If anyone does know, please share that information with me.  She also agrees that based on his last hearing test it may be to our benefit to push for another hearing test and keep a close eye on his levels of hearing.  I will make those phone calls tomorrow.  We also have a speech evaluation in correlation with his possible speech delay coming up on December 8th.

There was one new discovery today!! Can't have an appointment without someone finding something new that is abnormal with Baby Thomas.  She noted that his toes curl.  It was not a reflex to her touching his feet or anything of that sort.  But just as she held them in her hand they had a nice curl to them.  She said it was nothing to be alarmed about or contributed to his falling, but that it was a characteristic that just needed to be noted as part of his package.

One of the best parts about today's appointment is the explanation of the 'package'.  I really liked her terminology here and will probably continue to use it as such.  We discussed his hypotonia and how this would fit into the symptoms as this is not listed in any of the possible syndromes.  She explained that most children with syndromes have certain characteristics that come with the package.  One of those is the existence of hypotonia or low tone.  That was comforting to know that there may be no further developmental issues neurologically but that it is more or less a common part of the package.  As a mother, it is hard not to fear that one of the symptoms will lead to a bigger issue that will cause more challenges.  She also explained that being small is another characteristic that is part of the package.  She said to ignore the chart and make his own growth chart.  As long as he is consistently growing and doing well on his own line then we have no reason for concern.  Typically children who have these classifications of syndromes are just little.  He is not to be compared to other children without syndromes and not even compared to his brothers.  This was also comforting news to me so that I know what to look for and to accept that my little man will just stay little.

The second great part about today's appointment is that she explained to me that having a syndrome such as this means that he will not progressively get worse.  He was born with these issues and they are what they are.  A syndrome is a group of symptoms that collectively indicate or characterize a disease, psychological disorder or abnormal condition.   Thomas falls in the abnormal condition category.  I had never heard this before and as a mother it wonderful to hear that once we have defined all of his anomalies they will not change or become worse over time in and of themselves.  Don't get me wrong though, I am not naive and realize that some of his current issues may alter, such as his spine or eyes, that may prove to make more challenges above and beyond his current challenges.   But I still find comfort in knowing that once we can confidently and comfortably identify his syndrome, it will be something that we can use as our road map for his health care and therapies for now and in the future.

Baby steps are still steps taken.  I feel like we are on the right path and feel better learning more about the package of Thomas.   I definitely think we will have a diagnosis in the next couple of months.  Will this change anything?  In the right now moment, probably not.  But it will be something that will be used in the medical world to explain his package and his challenges.  It will be beneficial in trying to get financial help and getting him special considerations when necessary.  Today was long and a lot of information was provided, but I think it was definitely a good step for Thomas.

Thank you for your continued prayers and support.  They are truly are appreciated and felt.  The past couple of months have taken there toll on me and I feel myself struggling with all the extra stress and emotions that arise daily.  Please don't mistake me, I do not struggle with my faith as I know God has this all in his hands. God has sent Thomas as this beautiful and magical package that reaches far beyond our family and grows with each person he meets or reads his story.  I feel this season of our journey is one of the hardest parts because its still new, fresh and unknown.  The more we know the better prepared I can be to continue to be his best advocate until he is old enough to be his own.  "And this strange season of pain will pass, when the healing hands of autumn cool me down" ~ Indigo Girls

Philippians 4:13-- "I can do all things through him who strengthens me."

Its what he didn't say. . .

First I will have to say this past week was tough with so many people grieving close loved ones.  While I am grateful that they are now in the arms of our heavenly Father, it also makes a person evaluate their own lives and how they are projecting God's light to all of those around them.  With a heavy heart, we escaped to a cabin in the foothills of South Carolina.  It was a fabulous time for all of us and a great escape to get away from everything technology.  The boys were amazed there was no television. It was great!!  Nothing brings you closer to God then being in an untouched State Park listening to my boys giggle and play.  It was good and bad for Thomas from the view of Robert and I.  It was good for him in a PT sense as there was lots of obstacles for him to step over and walk around with roots, rocks and tons of leaves making it difficult to see where to walk.  It was a natural way of having him work on balance.  The downside was a lot of falling.  It hurts us to see him fall so much when just trying to walk around and be with us and with his brothers.  I will have to say again, he is a trooper and doesn't cry much, instead he gets up brushes himself off and keeps going. 

It was a short trip though, leaving Friday afternoon and coming back Sunday.  As soon as we got back I began getting anxious about today's doctors appointment.  Today was the Orthopedic doctor who had requested us to come in to discuss the new discovery of the fused vertebrae in his neck (cervical).  We waited long enough that I felt sick to my stomach before going in, luckily my little man was sitting next to me holding my hand while watching the people come and go from the waiting room.  We then went into the exam room where Thomas ran into the doctor's arms while the doctor nonchalantly rubbed his hand up and down his back checking his spine.  No changes in his spine since August, good.  After he reviewed the the x-ray again, he came in and began to draw for me what we have discovered.  He basically explained that Thomas' C1 is tilted on C2, which is causing the head tilt.  He then explained his concern that C3 and C4 are pulled away but that the spinal cord seems fine.  The fusion of the vertebra begin at C4 and go down through about C6. 

Here is a picture that I found that shows the way C1 sits on top of C2.  Its clear to see that if C1 is tilted how that would cause Thomas' head to have the tilt that he has. He explained C1 being like a halo that is off centered and tilting to one side.

Here is a good x-ray of the cervical vertebrae from C1-C-7.  As the doctor explained, he is not concerned about the fused vertebrae as they are what they are.  He will just have a short neck or low hairline due to the fusion and will not be advised to play such things as football or baseball.  Not sure he understands that those things are not an option anyway for his patient, but I kept pressing.  He was illusive as to what he wanted to tell me until he can see the MRI to get a better picture of what is actually going on.   He assured me that the spinal cord looked fine and that there was plenty of room for the nerves to grow.  He called it a "stable abnormality"

In our conversation, I asked him if this meant that his limited range of motion was definite or something that could be altered.  He basically said that his range of motion would not be increased.  My heart sunk at his words knowing that Thomas' eyes need him to be able to compensate with his neck and not having that range of motion limits him even more.  Also in the back of my mind is the fact that many people who have eye problems such as Duane Syndrome suffer from neck and back pains and issues even with full range of motion.  At this point, the sadness set in on me and I could feel my body melting to his words.  It amazes me how much I do like this doctor and he is so intelligent, yet when I leave I spend hours processing what he told me and end up doing further research to figure out what he didn't tell me.  I do believe some doctors don't divulge everything in an effort to protect.  I am not sure if that is his intention but it is certainly the feeling that I receive from him.  In a nutshell, he wants to see the MRI before making any conclusive remarks.  The MRI on Thomas' spine is scheduled for December 28th at 8am.

He did mention that after the MRI he would clear Thomas for his surgery.  He really didn't feel comfortable doing so until he was able to get a clear image of the bone structure to advise the proper way for the intubation.  He explained there are options to use a fiber optic method as opposed to extending the neck and tubing.    

My concern is that this is what it is and we must accept it.  If that is the case, Thomas will always have the head tilt which prevent good posture causing multiple issues throughout his body.  It could also cause the other vertebrae in his back to move to compensate causing scoliosis which he is already prone too having the butterfly vertebrae in his thoracic part of his back. Not to mention the anomalies in his lumbar that could also shift.  Know that if this doctor doesn't offer a conclusive explanation of what can or cannot be done, I will seek an alternate opinion.  I will not be satisfied until I know for a fact that I have given Thomas the best opportunity to overcome these issues and prevent any of them from becoming worse or causing more pain in the future.  I feel it is easier to fix what we can now while he is little before they become a bigger issue through growing and compensation.  The body will find a way to compensate and sometimes those things are not reversible.


So today, I feel like someone kicked me in the stomach.  Again my thoughts have had to shift, I thought the issue was fused vertebrae when in fact its more to it than that.  I am not sure what the MRI could possibly change, but am willing to wait until he has seen what he wants to do to provide me with a definitive answer.  I don't really have any other choice.  Tonight I will process, read and try and file this information where it belongs so that I can focus back on my family. So I can get back to preparing for a great Thanksgiving meal and teaching our boys to count all of our blessings.  But for tonight, I will lay down at the feet of my Lord and give all of my fears and frustrations to him and pray for the strength and renewed spirit for tomorrow.

Next Tuesday is our appointment with the Genetics Specialists.  Again, I am not sure what they will be able to offer me, but I was once looking forward to it with hopes and now I think anxious is more of the feeling.  Hopefully, this will change in the next week.  Thank you again for reading, listening and praying, you mean so much to me.

"Don't worry about tomorrow  ~  God is already there"

While I Wait. . .

So many of you ask how Thomas is doing and tell me that you read my blog when the opportunity is present, so I thought I should give you all an update.  I am grateful to each one of you who take the time to read my blogs.  I really have no organization to them, but I sit and open my heart as the words flow to the page.  I suppose there are no rules in blogging as to how long, how often, etc.  I am just following my heart and your lead as our support system.  Thank you, you mean a lot to me.

Thomas is fine as he really doesn't know that there is anything wrong with him, so he is running and playing and trying to keep up with his older brothers the best he can.  We are still going to physical therapy about every two weeks and we are trying to work on his strength and balance through some exercises.  He got his first bad boo boo under his eye falling in therapy, but its practically all healed now.  Its tough to watch him fall so often as a mom.  We even try to make it a fun game where when he falls we laugh or make a funny noise.  Most of the time he can catch himself pretty good so he doesn't get hurt, other times he is too close to an object and hits it.  You will often see bruises especially on his face and forehead area.  The great thing about kids is they are so resilient and heal so quickly.  Sometimes it makes me feel bad though especially when we are out and about and he attracts someone's attention and they ask what he did.  We had lunch today and this lovely lady took a liking to Thomas and just talked with him and smiled and then asked about his head.  I just lightly explained he falls a lot and she replied that she was sure he would grow out of it.  Sweet to say. . . but not sure that is the case.  Nothing about Thomas is something that you can grow out of unfortunately, it is what it is.

So, while I wait for the appointments to come up which is very difficult to do there still isn't a day that goes by that I am not doing something related to Thomas and his health care.  Calls from doctors, PAs, insurance, etc.  I was relating to another mom tonight who deals with similar circumstances and it really is taxing on someone how much it takes to make all of this happen.    The calls come at the craziest times too.  Friday night I was working a wedding at the church, running back and forth between the kitchen, the Bride, the sanctuary and going down the hall my phone rings.  It is the nurse calling to talk to be about having the MRI order for Thomas' brain being sent to Egleston and that they should be calling me next week.  Okay thank you and back to work.  Its not until later when I get to sit down that it sinks in that I had a phone call about the appointment to put my baby to sleep so that they can get a detailed picture of what is going on inside my babies brain.  The potential to find things that didn't develop correctly or aren't right.  I quickly have to drum up my inner voice to calm the anxiety and remember who is in charge.  All will be fine and we will tackle anything we need too.  God will give me what I need when I need it and I am good with that.

I have been searching on the Internet for others who have children like Thomas in some manner.  Its something that I do when I don't feel like I am doing anything proactive.  My findings this week were fabulous!! I was able to find another mom who has a son with DS and hearing issues.  She was able to tell me that at age 9 he is a happy boy and is enjoying his life to its fullest!  I also found a 20 year old girl who suffers with similar issues as Thomas and she too was able to share with how fulfilling her life is and how she had struggles throughout her life but nothing that she couldn't overcome.  I know Thomas is going to have a great life and that these obstacles set before us are not something we won't be able to overcome and he will never know anything different.  But finding others who walk the same path as you gives you more hope and assurance that what I am doing is the right thing and the choices I am making are going to benefit him in the long run.  As humans we just like to have that connection for the other person to listen and relate.  

Monday we have an appointment with the Orthopedic surgeon.  I am very curious to ask him what he thinks of the neck fusion and what does he think it means in relation to his other anomalies if anything and what does he expect to see on the MRI that is scheduled for December 28th of his spine.  So, I am ready to take this one on.

In the meantime, we are going to get away for the weekend.  We are headed to a cabin on the lake in South Carolina for some good family time with the outdoors.  I think it will be a good time for us to just be a family and let our spirits renew and come back prepared for Thanksgiving.  Such a wonderful time of year to stop and reflect on those things that we are so grateful for.  Never doubt that I count my blessings daily and that I now among many things that Thomas is a blessing not only to us but to all that get to know him.

In closing I have to mention that God took a childhood friend of mine home this week after her long battle with Cancer.  She was my age with three young children and a wonderful husband.  It weighs heavily on my heart for her family to no longer have that light in their lives and I still have the opportunity to allow my light to shine for my family, friends and all of those who are around me.  It is my prayer that God will help me everyday to be the best mother, wife, daughter, friend, granddaughter, neighbor and that in all I do let His will be done. 

Proverbs 3:6  "in all your ways acknowledge him, and he will make your paths straight."

Philippians 4:6  "Do not be anxious about anything, but in everything, by prayer and petition, with thanksgiving, present your requests to God."

18 Month Check Up

For most people a check up is routine, you go in you check off where your child is and wait for the shots to go home.  The highlight is the new weight and height of your bundle of joy.  I have learned to cringe and be quite anxious at these appointments as usually there are unexpected findings at these appointments.  However, I think over the past months we have discovered almost everything there is or at least on the right path.  Today's appointment wasn't all that bad.  I definitely think Thomas has become quite fearful of nurses and doctors not knowing what is going on.  I try to talk to him as much as I can but the fear is quite real to him.  He screamed the entire time they tried to weigh him and measure him.  Its quite heartbreaking for him to fear such a simple non evasive tasks.

Our goal was to hit 20 lbs in three months, which we did with 2 ounces extra.  He has also grown in length to 30.2 inches and his head is at 18 inches.  He is still wearing 12 month clothes but I have noticed in recent weeks that on his tip toes he is reaching more things on the edge of the counter and is reaching door knobs.  She does want us back in three months for a weight and height check since technically he isn't due back for 6 months.  She would also like me to give him Carnation in his milk twice a day to keep his caloric intake up.  I will do my best with this one, he drinks what he wants when he wants too.

The pediatrician and I reviewed every doctor and upcoming appointments to make sure she and I had the same plan.  She too was quite excited with my connection at the neurology department at Emory and was thankful that they were able to work with us.  At this point we are doing physical therapy every two to three weeks to improve some of his fine motor skills and just avoid the neck area at this time.  She is putting in for a Speech therapy evaluation.  She asked if I wanted to go through private with Children's or through Babies Can't Wait.  I told her that Babies Can't Wait had released him from the program.  She was baffled with all of his issues that he would be released from the state program and suggested that we might reapply.  I told her for now let's go through Children's as I trust them that they will give a thorough and complete evaluation and appear to be far more competent than who I previously worked with through Babies Can't Wait.  From a financial standpoint Babies Can't Wait makes more sense, but at least up front I want quality care for my son.

This led to another discussion about the Katie Beckett Waiver through Georgia.  I have been going back and forth with this thing trying to figure out if its worth it, should I apply now or wait until after we see more specialists, etc.  My pediatrician put my mind at ease and said based on his circumstance he has a good chance and that she fills those things out all the time.  Just her saying that made me feel better because I don't want to be making a mountain out of a mole hill but I also want to get help where help is available.  We went into more detail about the form, the detailing of costs and his care plan.  All of which were things I was concerned with before applying.  She left it up to me as to if I wanted to start the process now or wait until after we see the neurologists.   

So really nothing new overall except we will get him evaluated by a speech therapist.  I will have to say that it is quite refreshing to have such good confidence in a pediatrician who was able to ask me questions and discuss the issues of my son with me from memory.  When we first moved to the area I went through several pediatricians trying to find the right one when Tanner was an infant.  Never doubt that everything happens for a reason.  Looking back over the last couple of years, I can see many people, events and things that have prepared me for this moment in time and for that I am truly grateful.

I would like to share one last thought with you that I have been praying and meditating on for the last week or so.  I am finding that its important for me to be on my knees constantly praying and talking with the Lord above to give me the strength that I need to do what it is that he wants me to do.  There is a song that I keep hearing over and over again and I know it is because I am meant to hear it:



Here are the lyrics:
You must You must think I'm strong  
To give me what I'm going through
Well, forgive me Forgive me if I'm wrong  
But this looks like more than I can do On my own
I know I'm not strong enough to be everything that 
I'm supposed to be I give up I'm not strong enough  
Hands of mercy won't you cover me Lord right now I'm asking you to be Strong enough  
Strong enough  
For the both of us
Well, maybe Maybe that's the point  
To reach the point of giving up
Cause when I'm finally Finally at rock bottom  
Well, that's when I start looking up  
And reaching out
I know I'm not strong enough to be Everything that I'm supposed to be I give up I'm not stong enoughHands of mercy won't you cover me  
Lord right now I'm asking you to be Strong enough Strong enough
Cause I'm broken Down to nothing But I'm still holding on to the one thing  
You are God and you are strong When I am weak
I can do all things Through Christ who gives me strength And I don't have to be Strong enough Strong enough
I can do all things Through Christ who gives me strength And I don't have to be Strong enough Strong enough
Oh, yeah
I know I'm not strong enough to be Everything that I'm supposed to be I give up I'm not stong enoughHands of mercy won't you cover me Lord right now I'm asking you to be Strong enough 
Strong enough 
Strong enough

You too can be Strong Enough to do what God has called you to do, but you can't do it alone.

Hurry Up and Wait

Pretty much sums up where we are right now.  I finally have everything scheduled that needs to be scheduled and now its a matter of waiting until we get to each appointment to see what each specialists thinks.  We do have a regular 18 month check up on Wednesday.  Although with Thomas there is usually a new surprise with even a regular check up.  I really think we will be good on this one though and it will be just an overall health check which I think is just fine.  He hasn't been drinking as much fluid as I would like, but not sure that is a huge issue at this time.  More like a kid just being a kid and going through their strange spurts.

After that appointment we have the following:
Nov 21st - Orthopedic Surgeon  ~ Not sure how productive this appointment will be except to maybe see what he is thinking about the neck fusion.  But since the MRI isn't until later he will be talking to us strictly based on the X-ray.

Nov 29 - Genetics Specialists ~ I am anxious about this appointment.  I have sent in the large amount of paperwork already to them and am working in the insurance paperwork.  I have also requested medical records from everyone Thomas has seen for her to receive the copies prior to our appointment.  I have a lot hope in her connecting the dots for us but also know that she is not the end all to everything.  We still have other ways in which I feel we are moving forward for more information.

Dec 4 ~ Meet with the eye doctor to have his eyes checked and see if the DS has changed any since our last appointment.

Dec 28th ~ MRI on spine as requested by the Orthopedic Specialists.  I am also hoping to get an additional order for his head for the same date if needed by the neurologists so that they only have to put him to sleep once and do the test for both. 

Jan 4th ~ We have our first appointment with the new neurologists who came highly recommend for Thomas' specific case. 

So, as you can see its a bit spread out for basically the next two months.  I am grateful for that considering the holidays and the kids being out of school.  Three boys in a small exam room makes for a very stressed out mommy.  I will update you as we hit each of these appointments and possibly learn more information.

In the meantime, we are living each day enjoying all of the wonderful blessings that our Lord has given to us.  We are all loving and growing as a family together!  Thank you again for your love, support and especially your prayers we are so grateful for them all.

Highs and Lows

Well, first of all, Thomas was scheduled for surgery for this Thursday and I made all the arrangements to have everything covered.  Our orthopedic doctor reviewed his file and would not clear him for surgery today.  The anesthesiologists needed clearance from him since they would have to incubate and that requires them to pull the head back and extend the neck.  The orthopedic was not comfortable with allowing this until he has had an opportunity to have a more intricate look at it himself.  They are putting in an order for a MRI.  So, until he has had a chance to look at things we will postpone Thomas' procedure to a later date.  I will keep you informed as this continues to move forward.  I am slightly disappointed as I have been preparing myself to get this done and move it past us, but am relieved that I have chosen doctors who are willing to take more precautionary measures with my son.  I am very grateful for that.

I had come very encouraging information shared with me yesterday that just made me giddy.  A church member of mine has a sister who is a PA for a neurologists at Emory.    She had introduced me to her back in the Spring on Palm Sunday, but at that time I had no inclination as to how she could help me.  Well, the other night my friend sent me a message letting me know her sister would be happy to speak with me and reminded me of her name.  Oh my, her name was the same name that my pediatrician had spoken to me about.  My heart leaped for joy!! It clicked immediately that her sister was the one I had been trying to reach for the last couple of months and the office was being a bear.  So, out of love, she shared her personal cell phone with me.

I spoke with her yesterday and she was so sweet.  She even mentioned to me that she had read my blog and was more familiar with the details of what I had been going through with Thomas.  Then she recommended another neurologists that she believed would be a better fit.  How awesome is that?  Someone who is on the inside who can say this would be who he needs.  He is more knowledgeable in the field of more complex cases and would be a better fit.  She is going to work with her office to get me an appointment and was also going to discuss the case with him during her clinical with him that morning.  I was so excited just at the possibilities and how this all came to be.  I am so thankful that prayers are being answered even when I am not sure myself what I am praying for.  I never thought I would get so much joy in finding the right specialists. 

So, we have lots of appointments scheduled for this month and I will be sure to share with you any updates as we move through our journey.

On a side note, I did walk 60 miles and it was an amazing experience!  I walked with some fabulous people.  I will admit the first day was the hardest as I had just learned about Thomas' neck and was trying to process that information.  So the first 20 miles were a pity walk for me and I questioned why I was there and why I wasn't home with my babies.  About mile 13 my muscles began to lock up and I could barely pick up my legs, it was miserable.  I did the 20 miles and back at camp, I blew up my mattress and put out my sleeping bag, and moped my way to dinner.  Once I got the dinner line this very happy lady asked me how my day was and I immediately burst into tears.  Looking back, its quite humorous, but I do feel sorry for her.  I prayed that night a little hard than nights past for clarity and strength.  The next morning I woke up with a rejuvenated spirit and knew why I was there and that I was doing something beyond myself.  So, then I walked 40 miles for those who couldn't walk, for those who were battling cancer and couldn't leave it behind and for the survivors who were walking with us after going through hell.  I learned the true meaning of "mind over matter".  I proved to myself that I am a fighter and I can do it.

I will do this and I will be thankful for all of my blessings along the way.  For as many issues and challenges that Thomas has I will fight for the best for him.  He is a tough little man and he reminds me daily that he is still a happy, healthy 18 month old who plays in my toilet, empties my pantry and climbs on anything that little foot will get on. 

Our X-Ray Results

 I have been a member of a local mommies group since we moved here almost 5 years ago.  It has been a wonderful supportive group of women all with the same hopes, dreams and aspirations.  Oh, did I mention frustrations?  One thing has always ran through our group that rings true and that is to always trust a mother's instinct or gut.  If something doesn't feel right, it's not.  If you don't think you should do it, don't.  It you don't like what they said, don't go back.  I truly believe a mother's instinct is extremely powerful.  Sometimes you don't want it to be right though.  Last night, mine was right.

Today I was able to talk directly to my Pediatrician instead of just another doctor reading a report to me.  Instead today, I got a my doctor who is as concerned about my son's health as much as I am.  She quickly got right to the point and told me to stop all physical therapy or occupational therapy immediately.  It was clear that the cervical vertebrae in my son's neck are fused together preventing mobility.  There are only 6 (C2-C7) vertebrae located in that region that allow you to move your head and neck in all of the movable directions.  C1 is located directly under the skull.  We are moving immediately with the results to the Pediatric Orthopedic.  We will get his consultation and also request that all of the skeletal bones in his body be reviewed for any further anomalies.  Hopefully, I will get an appointment with him rather quickly as my pediatrician was going to discuss the case with him today.  She was adamant that she did not want to waste any time.  Granted the level of urgency in the matter is all relative as he has had this issue since birth.  It is only now that we are discovering it. I will share with you as I learn what this means now and in the future for him.  I don't want to speculate as I am not a specialists in this area by any means, but I know its not going to be pleasant.  Having limited mobility in your neck is a problem in itself and then compound that with his inability to move his eyes properly.  My hope is that its not painful for him in the present and that a solution can be found that we can be comfortable with.

Another thing I did want to mention is that wonderful word from yesterday, mitochondrial.  In conversation with my Pediatrician today she clearly stated that she did not have any suspensions that his problems were related to it.  In fact, she wants me to verify that the genetics will work to define his complex issues if they are not directly related to her specialty of mitochondrial.  We both want to be extremely clear upfront and not waste any time or money.  I told her I had no problem clarifying that with them before we moved forward on anything else.


Tonight I am in the midst of processing this new information while preparing my boys to stay with their dad for three days while I walk 60 miles for breast cancer awareness.  I have to admit that at this moment my mind is on anything but walking.  I am sure tomorrow morning once I am there and with my team the spirit will fill me and I will be able to make the walk for all of my fabulous supporters and for all of those who have battled the evil disease of breast cancer and for the ones who have lost their dear loved ones.


Tonight, I allow tears to roll down my cheek as I begin to realize the journey that Thomas is on has become a more challenging one.  My faith allows me to know that he is God's child and that God has a purpose for us.  Thomas will be a happy, loving boy no matter the challenges placed in front of us he already shows us that everyday.  As a mother, my heart hurts for those things that I cannot change and for the unknown future.  Its amazing to me how nothing has changed, but everything has changed in only the matter of days.


Prayers to each of you tonight that you are strong in the challenges that are placed before you.  That you too are a child of God and that his grace and love for you are more than you will ever fathom.  Embrace his love, thank him for your many blessings, open your heart to him completely and hold nothing back for he holds nothing back for you.  God takes care of all of his children.

"O give thanks unto the Lord, for he is good" Psalm 106:1 
 

The word for today is: Mitochondrial disease

This morning my pediatrician called me with the full results from the PT evaluation last Monday.  It sounds as though once she received the report they actually had a consultation to discuss it before contacting me.  I didn't learn anything new, basically the PT had discussed it all with me during the evaluation which was very reassuring.  My pediatrician agreed that we should move forward as soon as possible with a neurological consult and a genetics consult.   She also wrote the order for the x-ray of the neck for me to pick up.  She gave me the names of the doctors for each category whom she believed were the best of the best.  

So, I made more phone calls today.  I attempted to make an appointment with the neurologists, they are going to get back to me in the next 24 hours due to having to send an email to administration to have me permitted to see that doctor.  Okay, they have until tomorrow afternoon and then I will give them another courtesy call.  As this doctor is very highly sought after and they is quite a waiting lists.  She is with the neurological group with Emory, so I do feel confident that once we get in and see the doctor that we will be able to move forward with any challenges we may have to face in this particular area.   Or at least have peace of mind that there are no further challenges in this area.


The second doctor is where I learned the word of the day:  Mitochondrial disease.  You see, I was not sent to a genetics counselor per se but a genetics specialists that focuses on mitochondrial disease.  Honestly, it sounds horrible, but is really quite fascinating.  I called the office to make an appointment and was greeted by an extremely friendly person who asked if my child had mitochondrial.  I was completely taken aback and just answered "I don't know".  He then asked why I was calling and I mentioned the referral and my doctor's name.  Well, apparently I answered correctly because then he began to explain in more detail what the doctor does and what she specializes in.  It is much different than going to any doctor and as the conversation continued I got quite excited about the possibilities of what this doctor could provide us that no one else could.  She doesn't take on any patient, but only complex issued patients that see different specialists with different problems.  She will not make an issue complex though, it either is or it isn't.  My pediatrician recommended her so much that she said she would take her own children to her and that she had been in the business for over 15 years.  Again, I do not know if Thomas has mitochondrial disease or even if I really understand what that means.  It is just that this particular doctor specializes in this area and it appears that some of the issue Thomas is experiencing may be related too or similar.  Either way, she will help us get to the bottom of it.


Basically, she will have all of his medical records and test results from anything he has had since birth to review before we ever meet.  She will already form an idea of what might be going on and a care plan of action before we have our first consultation.  During our consultation through our conversation she will either confirm or modify her plan.  She looks at the entire body as a whole and through her experience and studies can determine if one problem is related to another and if there are more problems that we should be aware of.  He explained it as you got to a neurologists and their specialty is the brain, so they are only concerned with issues that are near, in or affect the brain.  If there is something in the brain that is affecting the GI tract for example it might not be something that is considered when in reality it could be related.  Especially in cases where there are missing genes or a genetic mutation, which is more of the case with Thomas since all of his issues are considered congenital at this point. (meaning during development phase or present since birth).  So, there is money paid up front, quite a substantial amount in my opinion, but first and foremost its worth it if we can learn more about what we have and we our challenges really are.  The interesting thing that was discussed though is that she is so specialized that they provide a form that goes to the insurance company that request in network coverage which is usually granted due to the level of specialty.  We even discussed my insurance company specifically and he stated there past history has been that its covered as in network.  Whew! Let's hope that works out as well.  After the 3-Day walk this weekend, I will begin to gather up all of his medical records to get submitted to her for our appointment on November 29th.  

Today, we did go pick up the orders for the neck x-ray and headed to Children's in Mt. Zion for the procedure.  I knew he wouldn't be happy but it is painless and quick generally.  The waiting was the longest part but bearable even with the other two boys in tow.  In fact, it was quite nice to have them with me and usually its just me and Thomas on these excursions.  It was pleasant to have them near us and around us, reading, laughing, playing, etc.  The technician took one x-ray from above and one from the side and then reviewed.  Then, she came back and asked me what was going on with his neck that these were requested.  I explained the best I could and she said she wanted to get another one.  It could be a mother's intuition or me just with my guard up, but she led me to believe that there was something she saw.  Of course, she can't say anything because she is not the radiologist.  Of course, Tyler and I did study the x-ray a bit and I might have saw something myself but again I am no expert either.  So, we left for dinner and church and when I got home my pediatrician office had already called with the results just before 6pm.  UGH!! It was one of the peds I normally don't see and she didn't call me cell phone.  My peds always call my cell phone.  Again, I say UGH!!  And so I wait.  I will call first thing in the morning.  I do know it won't change the results if I know tonight or tomorrow. In fact, I got more anxious just at the fact that I could know right now and I don't.  I want the peace of mind that there is nothing there or be able to pray and build my strength for the next challenge ahead.  In reality, I will pray for that anyway because even if I knew the results right now I don't know what that would mean for him at this point.

So, that was today.  On a high note, I did learn that if I apply for the Katie Beckett/TEFRA coverage for Thomas and get approved.  They will pay all of his medical bills and even go retroactive to his birth.  Wow!!  I have been warned the process is long, painful, and stressful.  But the prospective of this even being remotely within in our reach is definitely motivation to move forward!  After this weekend, I will call and formally make my intent to apply and while collecting medical records, I will just make copies to submit with my application.  This would be such a blessing for our family and for the future of Thomas' medical needs and treatment.  Please keep this in your prayers, it truly would be wonderful to have the financial burden completely lifted and still be able to provide the best possible care for Thomas.

Thank you again for all of the prayers, love and support.  I am still amazed at how many take the time to read my crazy, rambling posts about things that may or may not mean a thing to you in your world.  Thank you, you are a special person yourself.

 

Surgery is Set

We finally have a date for his next surgery, Thursday, November 3rd.  I won't know the time until two days before but will share it with you for special prayers during that time.  Hopefully he will be early since they do them in order of age.  His first surgery was at the same location so at least the place is familiar and I already know how wonderful and caring the staff is with me and Thomas.  I will be glad to have this done and over with so we can continue to move forward.  

Pushing through it all. .

First and foremost, thank you.  Thank you for all of the notes, messages, hugs and support that we have received from all who have read our story.  If I haven't responded its not because you didn't touch me or I didn't read it, they all have in their own special way.  Its always a humbling experience to expose those things that are heaviest on our hearts to others and feel them lift us up in prayer.  It is true that our God knows every detail and is watching over us with love.  I have always learned that God only gives us what he knows we will have the strength to handle. I also believe God gives you enough that you have no other choice but to lean on him for the strength that you must have to push through it.  So, thank you for reminding me of how much you love me and Thomas and that we are not and never will be alone.

As for the medical update, still waiting to hear from the Urologists scheduler to set up his surgery.  I am just hoping to get it done before the new year.  I will let you know as soon as I have it scheduled.  I was able to confirm that his Pediatric Orthopedic doctor has not taken an x-ray of his cervical spine (neck).  So, our pediatrician is going to go ahead and put the order in for that instead of waiting for the PT evaluation with the order.  So, in the next couple of days we will head to Children's at Mt. Zion.  My hope is there is no curvature or fusion within his neck.  We are also getting a new referral for a Pediatric Neurologists.  The last one we went to was over a year ago and she was out of network.  Money is tight enough without making it worse by not staying in network.  The pediatrician and I discussed the issues at hand and both agreed that she may be able to provide some missing pieces to this very complex puzzle.  I am looking forward to meeting her and get her analysis on our situation.   The final thing we discussed that has been brought to my attention is the idea of getting genetics counseling.  While we know his issues are all congenital, which means create before birth, they may or may not be genetically tied.  However, genetic counselors have great knowledge of being able to look at all of the different parts and connect the dots in ways that other doctors are not.  They are also more knowledgeable about particular syndromes and can advice pediatricians on what other issues may arise and to be on the look out for.  Its another level of reassurance that nothing is being overlooked and they get the best health care for their particular situation.  This sounds fabulous!! I would love for someone to connect the dots for us.  Our insurance company on the other hand doesn't seem to have benefits to cover this type of analysis.  But I have a name of someone and I am looking deeper into it.  While I will still give all of my other doctors a chance to do their very best with Thomas and determine the best course of action with each issue, we may still figure out a way to have him evaluated for more information.  It just might not be right away.

Its not necessarily that I want it labled or to have a definite diagnosis, which is only nice when having to describe to others what is wrong.  My concern is not knowing all of the possibilities and their prognosis.  If there is a chance that I can have a clear picture of where we are and where we are going then I feel like I would be in a better position to get him better health care to ensure the best quality of life he can have.  One piece I have been considering is that most people with Duane syndrome do having hearing issues.  The hearing issues are usually fluid in the ears and that they still cannot hear or detect certain frequencies.  I am not sure, but I don't think even the best ENT doctor is going to be aware of that and therefore as my son's advocate I need to be aware of that.  So, that at each appointment when we are having his ears checked and meet with the audiologists they are aware of the potential problems so that we can correct or avoid them if at all possible.  I do realize that there are never any guarantees and sometimes its good not to read the possible warnings or side effects to cloud your judgment.  But I am willing to try if there is a chance, especially considering that this journey has been nothing but an uneasy, slow unveiling of itself.

Many of you have shared the poem with me, Welcome to Holland.  So sweet and so touching to any mother who has a child who has issues that are out of what we consider to be the norm.  The thought has been resonating through my mind this last week, "Am I in Holland?"  If I am in Holland, then what does that mean for me or for Thomas.  It seemed so daunting and surreal.  I mean, I know I wasn't in Italy but I wasn't sure where I really was.  I finally talked to a dear friend and put into words these thoughts that had been beating me up in my head.  That is when I finally realized, Holland is not a bad place to be as the poem says in the end.  I was focusing on the wrong part of the poem, I had forgotten to think about how it ended.  It simply means you are not where you thought you were going to be, you are in a different place with different challenges and different hopes and dreams than before.  This was not a part of the plan, not my plan anyway.  Its always God's plan.  Everybody's Holland may look different, but we were all derailed and put there for a purpose.  Yes, I thought I gave birth to a perfect, healthy little baby boy and I did.  But with each visit and each doctor something different has been revealed in small bites.  I am not sure why but it wasn't until last week that it all hit me that things really are different with him, but its going to be okay.  No matter what they mean, he is and always will be my sweet Thomas.