A Lil' Boy's Journey to Live….

Archive for February, 2021

Update .. ❤

Update .. We are still working out the details of next week’s procedures. We know Riley will have his Bronch and Cath on Friday. Dr Ryan in GI was working with cardiac anesthesia to see if it was possible to also scope Riley while he’s under. With the new findings of Loeys Dietz Riley needs an MRA (Similar to MRI but checking blood vessels). Riley will also need to be sedated for that. Makes sense to try and do it while he’s already under anesthesia rather than sedating him again in the near future. The discussion now is the length he may need to be under to have three different docs come in and do their thing along with the MRA. We have already expressed that if it comes down to time we would rather do the MRA than the scope. So for now our opinions are being shared with the teams. Monday Riley sees a new geneticist, Dr Kallish and a new cardiologist, Dr Drant. Both are joining Riley’s team because of the Loeys Dietz.
Next week will be a busy week for Riley. Monday is CHOP to meet the new docs. Wednesday we head to Philly for a Covid test. Thursday is pretesting (labs, echo, EKG and stress test). Friday is Riley’s 8 year Transplant Anniversary and his procedures day.
Hope Everyone has a Great weekend! Will update again next week.

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

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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