Dear Jordyn-Ann, Our Little Warrior

By Carolyn, optic nerve hypoplasia,CHD5, DOCK 10, United States, February 12, 2019

PURE BEAUTY

Dear Jordyn-Ann,

Before you were born, we went through one of the most difficult tragedies imaginable, we lost your brother. His name was Jaxson and he is now an angel looking down on you. He had severe reflux which caused widespread aspiration pneumonia, he was also an organ donor.  His heart went to a little girl and his kidneys went to a 24 year old man . We woke up to find him not breathing, so each time your apnea monitor went off as a baby, we would be terrified. We would have to stimulate you to breathe again. When you were 4 months old and you got your first 105 degree fever, I felt like something was wrong but no one could tell me what.


When you were 7 months old and you started these weird and involuntary limb movements that looked neurological, I cried every time. They didn’t look normal and I was again terrified. What was happening to our precious baby girl? You were still having recurring high fevers ever 6-9 weeks.


When you were 10 months old and still couldn’t sit up or bare weight on your legs, I knew something was very wrong. You couldn’t stay in the sitting up position until 11 and a half months old. It would take you another month before you could get into that position by yourself. You have hypotonia of your arms and legs.


At almost 12 months old, you got your first MRI without contrast which showed delayed myelination and at 15 months you went to the Opthamologist that diagnosed you with bilateral Optic nerve hypoplasia, but that wouldn’t explain all your features.


A lot of doctors wanted to diagnose you with just Autism. One even said they wanted to diagnosed Autism just because they didn’t know what was causing all of your symptoms. As your mommy, I knew there was something more.
At 17 months, you took your first step, that was a beautiful day!!


At 18 months you had another MRI, this time with contrast that showed gliosis scarring on your left side and at 3 you had one last MRI, a stronger 3T scanner with contrast that confirmed the bilateral Optic Nerve Hypoplasia and gliosis scarring, it also found a couple more abnormalities. Doctors thought you could have had Angelman syndrome, Rett syndrome, or Pitt Hopkins syndrome but all those tests came back negative.


You have yet to speak a word to us, you have troubles with your balance, you have bad tremors on a lot of days and you fall often. You have issues with severe reflux and high fevers. You have a lot of complex things going on and you still find time to smile and find joy in a lot of things. You are such a fighter, a tiny warrior. Even though you are Non-verbal you still have things to say but in your own way.


At 3, you started hand wringing and had an abnormal EEG that showed abnormal spiking and slowing. At 3.5, you got approved for the UDN, that was the most amazing day because I felt like we had our hope back! They diagnosed you with Severe Autism and Severe expressive and receptive language impairment. We went there at the end of July 2018 and they did a whole exome.


At 4, you learned how to give high-fives, you even gave a little girl a hug on your own for the first time which was very unexpected and amazing because you are very sensitive to the touch.


At the end of January 2019, The Undiagnosed Diseases Network contacted me about how they found 2 rare de novo gene changes. One in CHD5 which is critical for brain development and function, the other in DOCK10 important for immune system function. They think the CHD5 change is causing a lot of your delays and neurological issues. Mommy just wants to find the other families with this, that are experiencing similar things, so we have a community, to know we aren't alone in this, and to spread awareness. Mommy will shout it from the rooftops.


Jordyn-Ann, please never forget, you are a special little girl, a warrior, and I will continue to fight for you and advocate for you as well as others with CHD5 and DOCK10.

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