My sweet baby boy is two years old today!! Thomas Joseph was born on April 29th, 2010 at 8:24am. He weighed 5 lbs 9.5 ounces and was 17.5 inches long. He has some dark brown hair on top and cute little puckered lips. He was soooo tiny but perfect. His personality is so much bigger than him and he literally brings so much joy into any room that he enters and can make anyone laugh who will watch him perform. He even laughs at his own jokes from time to time. Our sweet Thomas has been through so much in his little life but he is in God's hands and we are taking time to celebrate his precious life and all of those who have come to know him, love him and be there for him.
My prayer for you today and always baby boy:
“I ask the Father in his great glory to give you the power to be strong
inwardly through his Spirit. I pray that Christ will live in your hearts
by faith and that your life will be strong in love and be built on
love.”
Ephesians 3:16-17
Please keep us in your prayers as we attempt to getting a good reading Tuesday for his hearing at Scottish Rite. We really need to see how well his ears are holding up! The only other two appointments we have is his two year check up and physical therapy.
Then it will be an Elmo Party at the house for Thomas and his close family and friends. Ending off the Birthday festivities with a trip to the Shriner circus. We got complimentary tickets the circus from the head Potentate Chuck Ragers over the Yaraab Shrine in Atlanta. Again, such a wonderful organization for little ones like Thomas. Please support your local Shriners and if you are in the Atlanta area, head out to the circus!!!
I wanted to share with everyone that our first fundraiser for Thomas' medical expenses has reached its goal just in time for his Birthday!!! Forty four donors collectively came together and made it possible for us to make it happen.
Its crazy how a friend suggested that I do a fundraiser a couple of months ago and I found the GiveForward website. After looking at the mounting medical bills, I stepped out of my comfort zone and put my foot in the Jordan River. I am so grateful that God provides even when we doubt him as his children. God does not give up even when we give up on ourselves. I have been searching for the inner peace that so many hold and praying that I too can be blessed with such a calmness in these storms.
When you are overwhelmed and see that the river is raging and too rough and yet God is pushing you to go into the water, take that step using your Faith. While it takes time and requires patience you didn't know you had, it will come in God's time. The waters will calm and recede for you to walk calmly to where God is leading you to go. God has led me here and God will continue to carry us when we cannot no longer walk.
He will lead you too. .. have Faith and worship the Lord when you feel you are in the wilderness and not knowing where God is leading you. Close your eyes, breathe, pray and take the step into the raging waters.
Joshua 3 Don't move until you see God move, only then will you know where you are suppose to go.
Thomas will be 2 years old tomorrow! Hard to believe and now we have more to celebrate in the midst of it all. We are having his actual party next Saturday. I want to just open my doors and let everyone in as Thomas is not just my child but he is to be shared with all of you!! My heart overflows with love for you all who care so much about this little boy!
I wanted to share with you something that has been on my heart. As a mom, it is difficult when your child is sick or has a cold. It is unreasonable to expect a mother to look at an x-ray or a test result and realize that there are things in your child that are unusual or like no other child. I admitted last night to a friend that there are times when I think to myself, Thomas is fine. There is nothing wrong with him, I'm not sure what all the fuss is about. She was immediately appalled and thought people had said that to me and I quickly explained that 'no' no one has ever uttered those words to me. I say them silently to myself. It is only when I go through the list of clinical issues that I realize once again that Thomas does have a rare congenital anomalies that are odd and unexplainable. There is no resource for me to run too, there is no local support group, foundation or awareness day. So, here we are, but where are we?
There are many times when I picture myself just letting go. I vision myself holding a full shopping cart in the parking lot and while pushing it to the van, I just let go and let it roll on its own. What a fabulous feeling. We are so busy with our daily lives we don't allow ourselves to feel real emotions. There is no time to grieve those we have lost or things that have been taken away from us. Denial is part of the grieving process and when times are difficult to comprehend it is a natural part of emotions. Here is an exert from the Mayo Clinic that explains denial in a great way:Denial is a coping mechanism that gives you time to adjust to distressing situations The complete article is at the following link: http://www.mayoclinic.com/health/denial/SR00043 I think sometimes the denial keeps me from asking for the help that I really need with the boys and with funds. I haven't been researching and reading like I was a couple of months ago. I don't want to miss life but I don't want to not be moving forward. There are days though where I literally just stop and breathe.
In a very small community of people who share at least one common issue with Thomas, I have met some amazing people who have been in my shoes for many years. She has been through the denial and is past it. I wanted to share with you her words this morning that meant so much to me. This is shared from our MD Junction board with permission from Lisa to print on my blog from her heart:
Rare diseases are a tragedy and a calling for all of us
collectively; yet the nature of these conditions breeds a sense of
isolation and loneliness, especially when you suffer from constant pain,
stress and exhaustion. For this reason and so many more, having a
cohesive support group like ours is vital. At the risk of bringing my
work home (hard not to because I "live" spinal deformities), I want to
just emphasize the contribution that each person with a rare condition,
or each person living with someone who has a rare condition, brings to
the table. I just want to draw a parallel to Spina Bifida for those of
you who are not familiar with that spinal defect.
Spina
Bifida has always been seen as a pediatric condition because "everybody"
who had it, received intensive, (short sighted) pediatric care-it was
the best that was available until several years ago- they all died
though before they reached middle adulthood. As a result of that narrow
perspective, all medical research and clinical care centered around
pediatric patients. We had a limited knowledge base that has persisted
until now.
Because of advances in general medical care,
people with SB and other degenerative conditions are expected to live
into old age now, but sadly they will be living in pain and with
numerous chronic diseases -some that are caused by living 40+ years with
SB, and some that occur in the general population. The problem is, we
didn't plan for them because our focus was on pediatric issues. Now we
don't have a working knowledge or best practice guidelines to follow in
the care of adults with SB. They are uncharted territory. You could
easily switch the letters from SB to KFS because it is the same story.
The people who are in their 2nd 3rd and 4th decade of life are
trailblazing for those who will one day be in their shoes. They will
teach us how care, or lack of understanding over the lifespan, affects
health and quality of life. In rare disease management, both the young
child, diagnosed before the body has sustained damage ;as well as the
person who wasn't diagnosed until much later in life are vital in the
search for answers-cause and prevention.
My daughter has
had numerous x-rays and CT scans over the past 26 years. Independently,
each scan didn't seem like a big deal...afterall, it was only "one" set
of x-rays or one CT on each occasion. Overtime (and she is still
young), she has absorbed so much radiation in her tiny frail body, and
taken so many different meds from so many different helpful doctors,
that it will be a miracle if she can ever become pregnant or have a
baby..or if she lives to see middle age. Because doctors didn't have the
knowledge to employ a long term view of her health and future quality
of life when she was young, and we didn't know enough to advocate for
her, they thoughtlessly provided care that served the purpose of the
moment, but has impacted her adult life in a very negative way. In one
hospitalization for "exacerbation of pain and spasms", she had 5 CT's
that I wasn't even aware of, and she wasn't coherent enough to
understand what they were doing to her. Each CT scan is equivalent to
about 70 x-rays. Over the past 2 decades, she has consumed so many
prescription medications that I worry she won't have a functioning liver
or kidneys to get her through a long life. And it goes without saying
that her tolerance to opioids and muscle relaxers is unmatched. She can
take a load of drugs and still be wide awake, screaming in pain. This
is the wisdom we get only in retrospect. The point is there are to many
unknowns. Why don't we know before birth that a child has KFS? Why don't
we know how to care for people across the lifespan who live with
progressive diseases?
Please don't think I am saying we
shouldn't have diagnostic tests or medications. I'm not. they are
valuable and are all that we have for now, but we need a holistic
approach to our thinking and toward medical care- from day one. So those
who are parents of the young and those who have the battle scars from
living many years with KFS need to be talking to one another..and more
importantly, we all need to be listening, because there is nobody out
there who has as much knowledge of how KFS affects a person over a
lifetime than this group does-not anywhere in the world. We truly are
leading the way and everybody matters in the endeavor.
Love to you all and thank you so much for having such a depth of caring
that we can discuss all topics-no matter how difficult among the group.
I warned you- random thoughts spurred by an intense month I guess.
thanks to all for being part of this amazing group! Lisa
Lisa's Bio:
I am a nurse, and the mother of 2 children born with neuro-biological
defects that affect them at all levels of their lives. My 24 yr old
daughter was born with KFS and my son was born with a female body. Both
have suffered from physical pain, loneliness, and are completely
dependent on me for their care and emotional support. My goal is to
ease their discomfort and help them be healthy, productive adults who
can feel proud of their physical appearance and relationships. But
that's difficult to do because both KFS and GID are very broad and
complex conditions that affect every system in the body. I am looking
for mothers and interdisciplinary professionals to help excite others to
learn more about and help people who suffer from neuro biological
defects and their comorbidities. My heart goes out to all of you who
struggle with debilitating conditions, but still smile and continue to
go after your dreams!! You are true heroes!
Love you Lisa!! Thank you for being an advocate and sharing your struggles with us as a fellow mom. Thomas will benefit from it!!
What a day!! I knew I was crazy to have so much in one day, but I almost didn't have a choice. We needed to get Thomas' orthotics to get him moving forward in those, I had already had to reschedule OT once before and it is hard as heck to get an appointment with our sub-specialists geneticists so there it was our Tuesday.
So, first things first. We picked up Thomas' new orthotics today. Poor baby screams as soon as we walk into that little room. There is just something about it that makes him uneasy. Then we put these strange things on his feet while I hold him down and stretch his little leg out. I listened to the doctor explain them to me over Thomas screaming as I wiped his tears and intermittently would whisper my love into his ear. As soon as we walked out of the room, he told me 'go' and walked to the door. Once we left he told me 'ouch' and 'hurt'. You have no idea how glad I am that he can now tell me when and what hurts, although in this instance I couldn't take it away because it was for his own good. After a while he forgot about them and played as normal. We have to ease into them starting with short periods of time and extending them a little each day. I am really hoping that this will help him have better balance, less falls, and of course provide him a stronger posture to support his back. Anything we can do to keep his back from curving anymore will be a HUGE plus!!
In the middle of today we had a great Occupational therapy session. I just love her!! I am not sure if Thomas was already tired or just liked the new objectives today but he was so attentive and kept giving that sweet little smile while working. When we thought he was showing signs of fatigue, he would pick back up and go some more. I need to apply that to my own physical activity!
Now for the heavy stuff. This gets technical from a non technical person so hold on. We met with our sub-specialists geneticists today. (One day I will spell that word without spell check). The first test we did was a Chromosome MicroArray. It was explained to me that this test looks at the big picture to see if he has all of his chromosomes. Each person is given 32 chromosomes, 16 from mom and 16 from dad. If there are duplicates or deletions then that will cause syndromes, etc. In Thomas' case this came back negative. This is like looking at the United States from space, it looks great from a distance.
Great! But wait, he still has all of these unexplained issues and no real diagnosis.
At this time, the geneticists is going to write her report giving him the dx of Wildervanck Syndrome. I have mentioned this before in a previous post. In case you want a refresher here is all that the Internet has to provide: http://children.webmd.com/wildervanck-syndrome
Seriously, Google it all you want! If you happen to find more information than that, please share it with me because no one else has been able to find anything more. Again, he does not fit into this syndrome perfectly which is why we are still researching, but it it the best fit at this time based on his clinical anomalies. So, at least we have a report now that I can move forward with my attempt for Medicaid.
What's next??? Well, our sub-specialists geneticists suggest that we move forward with a Exome Sequence Study. This is where they will take the list of Thomas' anomalies and dissect his chromosomes in search for answers. This is currently only being offered at two places commercially in the US, the one we would go to is at Baylor University. There is a chance that they would be able to look deeper into the chromosomes and find the cause of his rare genetic disorder. In case you are super interested here is the link to the study: http://www.bcm.edu/geneticlabs/index.cfm?pmid=22059
Some of you who knew more about this might ask the same question I did today. We now know that Klippel Feil Syndrome occurs at GDF 6 on chromosome 8, so can't we do a test to confirm that? The answer is basically 'no'. The doctor believes that there is a bigger issue that caused this rare genetic syndrome in Thomas and KFS may be just one of the results of that. If you do the Exome Sequencing you are looking for the root cause. Some people can have a Klippel Feil deformity (fused vertebrae) without have the syndrome. Again, all of this makes my head spin!!
We are considering moving forward. Why? Its not because we are planning on having more children or because we are worried about Thomas passing it on to his children should he have any. Those are minors issues in my book. The most important reason is to provide Thomas with the best possible healthcare that we can. If we can get this testing done and get him a real diagnosis then we will know more about what issues my progressively get worse in the his life what to continue to monitor look for, avoid and most of all if there ever becomes a treatment available. I would and will continue to do anything I can to help him.
John 14:27 “I
am leaving you with a gift—peace of mind and heart. And the peace I
give is a gift the world cannot give. So don’t be troubled or afraid.
I know my blog is already quite long and exhausting, but I
do want to share one last thing with you before I close. I was
fortunate to got to Girls Night Out with some wonderful friends and
Mandisa was one of the performers. I can tell you her entire CD is just
incredibly awesome. God is using that woman in so many ways!! But
tonight, this song seems fitting. I want to share the song and the
lyrics with you. The most important thing to realize is that you are
not abandoning God when you let yourself fall to your knees and cry for
mercy. The important thing to remember is that you are falling at his
feet, the one who surrounds you will unconditional and undying love.
"Just Cry"
Why you gotta act so strong?
Go ahead and take off your brave face
Why you telling me that nothing's wrong
It's obvious your not in a good place
Who's telling you to keep it all inside
And never let those feelings
Get past the corner of your eye
You don't need to run
You don't need to speak
Baby take some time
Let those prayers roll down your cheek
It maybe tomorrow
You'll be past the sorrow
But tonight it's alright
Just cry
I know you know your Sunday songs
A dozen verses by memory
Yeah they're good but life is hard
And days get long
You gotta know God can handle your honesty
So feel the things your feeling
Name your fears and doubts
Don't stuff your shame and sadness, loneliness and anger
Let it out, let it out
You don't need to run
You don't need to speak
Baby take some time
Let those prayers roll down your cheek
It maybe tomorrow
You'll be past the sorrow
But tonight it's alright
Just cry
Just cry
It doesn't mean you don't trust him
It doesn't mean you don't believe
It doesn't mean you don't know
He's redeeming everything.
You don't need to run
You don't need to speak
Baby take some time
Let those prayers roll down your cheek
It maybe tomorrow
You'll be past the sorrow
But tonight it's alright
But tonight it's alright
Just cry
Why you gotta act so strong
Go ahead and take off your brave face
