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
Thursday, October 20, 2011
Wednesday, October 19, 2011
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.
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.
Tuesday, October 18, 2011
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.
Monday, October 17, 2011
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.
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.
Wednesday, October 12, 2011
From the beginning. . .
Thomas is now 17 months old and rapidly approaching the 18 month mark. So, I will do my best to get you caught up to where we are today. Thomas was born April 29th, 2010th. It was a normal pregnancy with no complications. He did decide to make his entrance four weeks early which makes him borderline premature. For all intents and purposes he is not considered premature and has been kept on the normal scale. It hasn't made much of a difference really as milestones have been hit in a timely manner and while he is small, his ratio has been the same and his BMI has maintained until recently.
The birth of Thomas did have some issues although all considered minor. During labor his heart rate would drop several times and the nurses would come in and adjust me, rolling this and that way in an effort to help. It would help briefly but it was quite intense for a good hour or so. Finally it was time and he came out sunny side up. This is important because this is the original reason given to me for his loss of hearing. He failed two hearing test upon birth in the hospital. He did need oxygen when he first came out, but soon peaked up and gained composure. He was cleared and never had to go to the NICU. He was 5 lbs 9.5 oz and 17.5 inches long. My water broke at 10:45pm and he was born the following morning at 8:24am. He did have jaundice but was released as he was eating well. Upon release from the hospital we had to return the following day for a jaundice test and a cystic fibrosis test. Jaundice was under control and he tested positive as a carrier for CF.
In the hospital I was informed that the hearing loss was probably due to fluid in the ears from birth. There was no reason to worry, the ears are small, the equipment is difficult to get accurate, etc. We had a follow up hearing test with an audiologists with Children's Healthcare of Atlanta on May 10th. He failed. We were then off to Scottish Rite for an ABR test for his hearing on May 26th. This too also showed hearing loss. We were then referred to Dr. Sipps who is a Pediatric ENT on June 9th and he checked his ears and wanted to wait due to his age. On July 14th we met with Dr. Sipps the second time and planned on placing tubes in his ears in an effort to prevent any developmental delays due to hearing loss.
At Thomas' four month check up, the pediatrician and I discussed and noticed some things with Thomas that seemed a bit odd. As a mom you try not to compare one child to the others, but I had a feeling something was different. I was concerned about his eyes and how they seemed to look crossed still at four months. He also held one arm up a little more than the other and other oddities. From there we were referred to a neurologist and a pediatric ophthalmologists. He had a CT Scan on his head on September 15th and an EEG on September 16th, both of them were performed at Scottish Rite. The results showed no findings of seizures which was the concern.
On September 20th, Thomas and I headed to Pediatric Atlanta Outpatient before the birds wake up to have his first set of tubes places in his ears. They were wonderful and everything went well. He had the tubes places within 15 minutes and then they were able to perform a complete ABR test while under sedation. The test showed they were clear with minor fluid still left but they were confident that would clear as the ear healed.
September 29th was our first appointment with a Pediatric ophthalmologists, Dr. Lipsky. He held Thomas in his arms and swung him around watching him intensely the whole time and sat him in my lap and said he has Duane Syndrome. Then he proceeded to tell me to feel free to "Google" it and call him if I had any questions. He gave a brief description of it and explained the eyes not having the ability to look outward, but other than that come back in six months.
I did "Google" it and then I started looking for another doctor. I wanted a confirmation that that was indeed what he had and what did that mean for MY child. God answered this prayer when the director of my child's preschool came to me with a business card of a man who specializes in this type of thing and has families travel from all over Georgia to see him. So, I did.
October 5th we saw the Nuerologist, Dr. Frazier. She too held Thomas in her arms laid him down on the table moved him around. She diagnosed him with torticollis and hypotonia (low tone). She suggested physical therapy.
October 12th, we see Dr. Marc Greenburg, pediatric ophthalmologist. He was able to confirm the Duane Syndrome and provided me a detailed explanation of what it was, how it was developed and the possible prognosis. Since Thomas was still so young at the time his best suggestion at this time was let's wait and see how his body compensates and what his eye muscle does. I felt much more confident with him and upon more research definitely know that he was a good move.
We did move forward with the physical therapy recommendation but in an effort to help with costs we used the Georgia program "Babies Can't Wait." I met with the director, they came out and evaluated and agreed to provide PT for Thomas for the torticollis. The initial meeting was on November 08, 2010 and he was released from this program in January 2011. The PT said that the muscle in his neck causing the torticollis was much better and that he is only leaning in the relaxed state. They assured me he would eventually overcome this and it was no longer an issue. When he started this therapy he was just over six months old.
December 16th, we had our first home visit with a representative from Georgia Pines. They are a Parent Infant Network for Educational Services. They basically help families with children who having hearing and vision difficulties. I thought this would be great for us! However, they to came for a couple of months and then cleared Thomas as being fine and capable. I believe this has more to do with not understanding his issues and his needs because he didn't fit into their box. He did have good vision and with the tubes he could hear. We were released from this program in July 2011.
As for this year, we have had our well check ups with our pediatrician and regular appointments with the ENT. We only had issues with his ear the end of June that appeared to clear up on their own. But upon further review by the ENT, one tube had already fallen out and the other looked out of place. So, we made plans to replace the tubes with new ones as well as remove his adenoids. This procedure was on August 19th and he did great. We haven't had any complications so far and the ABR was difficult to get but he did great on the behavioral hearing test. We go back in a couple more months to get them rechecked. At his 15 month check up Dr. Chin recommended a physical therapy evaluation due to his neck still leaning quite a bit. She also discovered that he did not have a right testicle or at least she was unable to locate it so we got a Urologist referral.
We went to the urologist, Dr. Elmore, on October 5th and he was very warm and loving to Thomas. It was nice. He is also extremely knowledgeable. He believes he located the testicle but it either developed and then shrunk or it never developed. He won't know for sure without surgery. So, I am currently waiting on his scheduler to call to set up this surgery.
On October 10th we had the full physical therapy evaluation and learned a lot about our baby Thomas. His neck is quite off. His range of motion is extremely limited especially turning to the left and side bending the right. These are our first focus at this time. He may or may not need a tot brace to assist with his neck, surgery may be something in the future for the muscles, and they are requesting an x-ray in case he has skeletal issues in his neck as well. He also appears to be off centered and is unable to left his head up and straight back. She also noticed difference between the right side of his body and the left where things were off centered and not symmetrical. She also noted his low tone being quite noticeable. His grip with his hands is not as firm as it should be. His feet are flat, turn outward and roll in; she suggested shoe orthopedics to help with this by lifting up his arch. This would also help improve his posture. Taking all of this in, I realized that there really is much more going on with him than just DS.
In researching more about Duane Syndrome now that I am more aware and know more, I found the following: Duane syndrome is usually an isolated finding (approximately 70%), but may be associated with other malformations1,3,5,6. Major anomalies associated with DS can be grouped into four categories: skeletal, auricular (having to do with the ears), ocular (having to do with the eyes) and neural (having to do with the nervous system). DS can also be associated with other well-defined syndromes. These include Okihiro syndrome (Duane syndrome with radial ray anomalies)7, Wildervanck syndrome3, Holt-Oram syndrome8, Morning Glory syndrome6, and Goldenhar syndrome9.
Of the four categories, we have definite findings in three. So, today I spoke with our Pediatrician and we discussed going to a Pediatric Neurologists to discuss the issues at hand. It may be that they can determine the origin of the low tone and determine if this is something that can be improved or something he will always have. It concerns me that there may be other issues lurking waiting to surface. I want to be more proactive than that. So, I am willing to have an updated CT Scan and/or MRI at this time if we can determine if there may be more issues we aren't aware of yet or why he has some of the ones he has now.
We also discussed the possibility of seeing a Genetics Counselor. We already know that DS is a genetic issue and was somehow changed in his DNA that caused it. It is also the underlining cause for the other issues since they are all considered to be congenital neuromuscular diseases. She said that most genetics counselors can determine if there are any additional syndromes in addition to the Duane Syndrome and that may give us a better answer of what we are dealing with and what we should be looking for and what his possible prognosis would be.
So, here goes my disclaimer, I am typing and I remember and not all the names of things may be correct in medical terms, etc. I am learning as I go which is on the fly and after emotional appointments. Now I finally have it all in one place the story of how we got on this journey. My goal is to use this as a way to keep a record of this journey and to share it with those of you who have come to know and love Thomas. Maybe someone else whose child is suffering will read this and relate or find comfort. Maybe a specialist who in interested in rare diseases will come across this and take on his case or have some sage advice that I need to hear. The purpose of this blog will show itself in due time, but I feel that I was led to write it. I never claim to have good grammar, be a good writer, or be able to articulate words well. But this is just a mom writing about her son and our medical journey of Duane Syndrome and Beyond.
The birth of Thomas did have some issues although all considered minor. During labor his heart rate would drop several times and the nurses would come in and adjust me, rolling this and that way in an effort to help. It would help briefly but it was quite intense for a good hour or so. Finally it was time and he came out sunny side up. This is important because this is the original reason given to me for his loss of hearing. He failed two hearing test upon birth in the hospital. He did need oxygen when he first came out, but soon peaked up and gained composure. He was cleared and never had to go to the NICU. He was 5 lbs 9.5 oz and 17.5 inches long. My water broke at 10:45pm and he was born the following morning at 8:24am. He did have jaundice but was released as he was eating well. Upon release from the hospital we had to return the following day for a jaundice test and a cystic fibrosis test. Jaundice was under control and he tested positive as a carrier for CF.
In the hospital I was informed that the hearing loss was probably due to fluid in the ears from birth. There was no reason to worry, the ears are small, the equipment is difficult to get accurate, etc. We had a follow up hearing test with an audiologists with Children's Healthcare of Atlanta on May 10th. He failed. We were then off to Scottish Rite for an ABR test for his hearing on May 26th. This too also showed hearing loss. We were then referred to Dr. Sipps who is a Pediatric ENT on June 9th and he checked his ears and wanted to wait due to his age. On July 14th we met with Dr. Sipps the second time and planned on placing tubes in his ears in an effort to prevent any developmental delays due to hearing loss.
At Thomas' four month check up, the pediatrician and I discussed and noticed some things with Thomas that seemed a bit odd. As a mom you try not to compare one child to the others, but I had a feeling something was different. I was concerned about his eyes and how they seemed to look crossed still at four months. He also held one arm up a little more than the other and other oddities. From there we were referred to a neurologist and a pediatric ophthalmologists. He had a CT Scan on his head on September 15th and an EEG on September 16th, both of them were performed at Scottish Rite. The results showed no findings of seizures which was the concern.
On September 20th, Thomas and I headed to Pediatric Atlanta Outpatient before the birds wake up to have his first set of tubes places in his ears. They were wonderful and everything went well. He had the tubes places within 15 minutes and then they were able to perform a complete ABR test while under sedation. The test showed they were clear with minor fluid still left but they were confident that would clear as the ear healed.
September 29th was our first appointment with a Pediatric ophthalmologists, Dr. Lipsky. He held Thomas in his arms and swung him around watching him intensely the whole time and sat him in my lap and said he has Duane Syndrome. Then he proceeded to tell me to feel free to "Google" it and call him if I had any questions. He gave a brief description of it and explained the eyes not having the ability to look outward, but other than that come back in six months.
I did "Google" it and then I started looking for another doctor. I wanted a confirmation that that was indeed what he had and what did that mean for MY child. God answered this prayer when the director of my child's preschool came to me with a business card of a man who specializes in this type of thing and has families travel from all over Georgia to see him. So, I did.
October 5th we saw the Nuerologist, Dr. Frazier. She too held Thomas in her arms laid him down on the table moved him around. She diagnosed him with torticollis and hypotonia (low tone). She suggested physical therapy.
October 12th, we see Dr. Marc Greenburg, pediatric ophthalmologist. He was able to confirm the Duane Syndrome and provided me a detailed explanation of what it was, how it was developed and the possible prognosis. Since Thomas was still so young at the time his best suggestion at this time was let's wait and see how his body compensates and what his eye muscle does. I felt much more confident with him and upon more research definitely know that he was a good move.
We did move forward with the physical therapy recommendation but in an effort to help with costs we used the Georgia program "Babies Can't Wait." I met with the director, they came out and evaluated and agreed to provide PT for Thomas for the torticollis. The initial meeting was on November 08, 2010 and he was released from this program in January 2011. The PT said that the muscle in his neck causing the torticollis was much better and that he is only leaning in the relaxed state. They assured me he would eventually overcome this and it was no longer an issue. When he started this therapy he was just over six months old.
December 16th, we had our first home visit with a representative from Georgia Pines. They are a Parent Infant Network for Educational Services. They basically help families with children who having hearing and vision difficulties. I thought this would be great for us! However, they to came for a couple of months and then cleared Thomas as being fine and capable. I believe this has more to do with not understanding his issues and his needs because he didn't fit into their box. He did have good vision and with the tubes he could hear. We were released from this program in July 2011.
As for this year, we have had our well check ups with our pediatrician and regular appointments with the ENT. We only had issues with his ear the end of June that appeared to clear up on their own. But upon further review by the ENT, one tube had already fallen out and the other looked out of place. So, we made plans to replace the tubes with new ones as well as remove his adenoids. This procedure was on August 19th and he did great. We haven't had any complications so far and the ABR was difficult to get but he did great on the behavioral hearing test. We go back in a couple more months to get them rechecked. At his 15 month check up Dr. Chin recommended a physical therapy evaluation due to his neck still leaning quite a bit. She also discovered that he did not have a right testicle or at least she was unable to locate it so we got a Urologist referral.
We went to the urologist, Dr. Elmore, on October 5th and he was very warm and loving to Thomas. It was nice. He is also extremely knowledgeable. He believes he located the testicle but it either developed and then shrunk or it never developed. He won't know for sure without surgery. So, I am currently waiting on his scheduler to call to set up this surgery.
On October 10th we had the full physical therapy evaluation and learned a lot about our baby Thomas. His neck is quite off. His range of motion is extremely limited especially turning to the left and side bending the right. These are our first focus at this time. He may or may not need a tot brace to assist with his neck, surgery may be something in the future for the muscles, and they are requesting an x-ray in case he has skeletal issues in his neck as well. He also appears to be off centered and is unable to left his head up and straight back. She also noticed difference between the right side of his body and the left where things were off centered and not symmetrical. She also noted his low tone being quite noticeable. His grip with his hands is not as firm as it should be. His feet are flat, turn outward and roll in; she suggested shoe orthopedics to help with this by lifting up his arch. This would also help improve his posture. Taking all of this in, I realized that there really is much more going on with him than just DS.
In researching more about Duane Syndrome now that I am more aware and know more, I found the following: Duane syndrome is usually an isolated finding (approximately 70%), but may be associated with other malformations1,3,5,6. Major anomalies associated with DS can be grouped into four categories: skeletal, auricular (having to do with the ears), ocular (having to do with the eyes) and neural (having to do with the nervous system). DS can also be associated with other well-defined syndromes. These include Okihiro syndrome (Duane syndrome with radial ray anomalies)7, Wildervanck syndrome3, Holt-Oram syndrome8, Morning Glory syndrome6, and Goldenhar syndrome9.
Of the four categories, we have definite findings in three. So, today I spoke with our Pediatrician and we discussed going to a Pediatric Neurologists to discuss the issues at hand. It may be that they can determine the origin of the low tone and determine if this is something that can be improved or something he will always have. It concerns me that there may be other issues lurking waiting to surface. I want to be more proactive than that. So, I am willing to have an updated CT Scan and/or MRI at this time if we can determine if there may be more issues we aren't aware of yet or why he has some of the ones he has now.
We also discussed the possibility of seeing a Genetics Counselor. We already know that DS is a genetic issue and was somehow changed in his DNA that caused it. It is also the underlining cause for the other issues since they are all considered to be congenital neuromuscular diseases. She said that most genetics counselors can determine if there are any additional syndromes in addition to the Duane Syndrome and that may give us a better answer of what we are dealing with and what we should be looking for and what his possible prognosis would be.
So, here goes my disclaimer, I am typing and I remember and not all the names of things may be correct in medical terms, etc. I am learning as I go which is on the fly and after emotional appointments. Now I finally have it all in one place the story of how we got on this journey. My goal is to use this as a way to keep a record of this journey and to share it with those of you who have come to know and love Thomas. Maybe someone else whose child is suffering will read this and relate or find comfort. Maybe a specialist who in interested in rare diseases will come across this and take on his case or have some sage advice that I need to hear. The purpose of this blog will show itself in due time, but I feel that I was led to write it. I never claim to have good grammar, be a good writer, or be able to articulate words well. But this is just a mom writing about her son and our medical journey of Duane Syndrome and Beyond.
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