A Lil' Boy's Journey to Live….

Genetic Testing Results

We have received Riley’s genetic testing back. Everything except in regards to his kidneys which will be about another month or so.
Testing has shown the SAMD2 gene to have ‘differences’. This would be linked to the heterotaxy, structural heart issues, developmental delays.
We also learned that Riley has Loeys Dietz Syndrome. This also links to some issues we know Riley already has. Scoliosis, raised palate, extreme flexibility, ‘doughy’ skin, headaches, caved in chest. It also though causes blood vessels to loop and kink in ways they are not suppose to. This issue with the blood vessels puts people with Loeys Dietz at high risk for aneurysms.
We still have much more to learn about Loeys Dietz Syndrome. Dr Strong in genetics has been Wonderful. She has made herself available to answer any questions we may have and there are lots. She has also already reached out to Dr Lin in heart transplant and everyone is agreement that Riley needs to have blood vessel mapping done. CHOP will be calling Monday to schedule.
So in the end we were able to put a name on some of Riley’s issues but we’ve also opened a whole new can of worms. Aneurysms were never really something on our radar. Now we’ve been warned about severe headaches, which Riley gets, and having to figure out if they warrant a trip to the emergency room. Hopefully as we learn more the fear will subside.
As we venture down this new road we will be sure to update you all who have been on this Journey with us.

CHD #Heterotaxy #Transplant #Warrior #BeatingtheOdds Everyday. ❤♻️💜

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