Monday, December 9, 2013

Where we are today

As most of you know by now, Jameson was diagnosed with Cornelia de Lange syndrome officially on 12/5/2013.  When they first mentioned this disorder to us they took blood samples in order to see if Jameson had the most common gene mutation called NIPBL. We got word in June that he did not have that exact gene mutation. There are two others they want to test him for right away, SMC1A and SMC3. Those only account for another 6-10% of cases, so we still don't necessarily have a lot of answers.

We've been contacted by the Children's hospital of Philadelphia who has the largest Cornelia de Lange syndrome department in the world and they want to put Jameson in a research study for children with CDLS that didn't test positive for the genetic side of it. All of us really want to make a trip to Philadelphia in the upcoming year so Jameson can see their specialists and hopefully get even more information to help our doctors here. I will say however that the doctors and therapists we've dealt with in central Iowa have been amazing. Jameson has seen numerous specialists so far and they've all been very helpful and they work together seamlessly to where it really feels like you have a team behind you. 

As far as the future goes, we have a long ways to go. Jameson is being fitted for a cranial helmet this week to help with his plagiocephaly and torticollis. We also see eye doctors next week to work with him on his sensitivity to light. We also still have many more specialists to see including a GI doctor to work on his tube feeding and gastrointestinal issues....a neurologist so we can get an MRI done and look at some brain issues they've seen on ultrasounds...and we're still continually working with our ENT Dr Young on his hearing and airway issues. I've recently invested in some sign language books so that our family can prepare to communicate with Jameson if it does come down to him being completely or partially deaf. 

All in all, we still have a long journey ahead full of exciting adventures and setbacks I'm sure. Either way we invite everyone to join us along the way and help us support this little angel is every way possible!

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