A Lil' Boy's Journey to Live….

Quick update .. Riley’s appt with endocrine went well. Wednesday he’ll do some labs to check cortisol, creatinine, calcium etc but from the looks of the last dexa scan we’ll be able to skip another round of Zometa infusions. Yay!
Riley’s upcoming appts in January are with dermatology and heart transplant.

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

Loeys-Dietz Syndrome

We now officially know that Riley has LDS6.
Loeys-Dietz syndrome 6 (LDS6) is caused by heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. LDS6 didn’t officially have a name until December 2021.

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

Update from Riley’s lung transplant appt.
PFTs and labs looked good. That includes the extra labs that were drawn because of recent bruising. Riley’s weight is down 4lbs since 3 months ago. Unfortunately the nutritionist we had been working with left so we’ll see what the new nutritionist says. Riley does not want to add back another gtube feed but he also eats like a bird. So we’ll need to figure something out. He can’t continue to lose weight. Speaking of gtubes .. Riley’s was leaking, as it often does, so pulmonary would like Riley to see Dr Nance (general surgery). Several years ago they had mentioned he may need a new track, but at the time everyone’s hope was that Riley was learning how to eat and he would eventually not need the tube. Well between not being able to drink and needing the tube for hydration and seemingly still needing it for nutrition .. we’re not sure what Dr Nance will want to do. We shall see.
For now Riley’s next appt is the end of the month with Dr Mancilla in bone health. Also working on scheduling an appt with general surgery, Ophthalmology and heart transplant. Riley’s next lung transplant appt will be in preparation of his NINE years post transplant cardiac cath and bronchosopy!

#CHD #Heterotaxy #LoeysDietz #Transplant #Warrior #BeatingtheOdds Everyday. ❤♻️

Riley’s on the Cover

Riley’s on the Cover!! #ConnectiveTissueDisorder #LoeysDietz

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

This is a Dexa scan. Riley began having them a few years ago after we learned he had fractures in his back and pelvis. The thought is the fractures were caused by Riley being on long term steroids. Something that he will continue to be on. The scan is checking bone density. Riley has been able to skip his last two Zometa infusion therapies because his scans have looked good. Riley’s next infusion will depend on how today’s scan look.

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

Riley’s visit with heart transplant went well! Labs, echo and EKG all looked good.
Riley’s weight is still down but we’ll discuss that with lung transplant since their nutritionist is who we work with for nutrition.
We also discussed possibly combining Riley’s transplant appts, heart and lung, into a one day visit. Currently we rotate seeing each team every 6 weeks. If we change the visits it would be seeing both teams on the same day every 3 months. That is honestly the way it is suppose to be but after Riley’s rough road after transplant we requested to see a team every 6 weeks. We didn’t want to go 3 months without someone having an eye on Riley. For us it was all about beating the odds and not wanting to miss something if he wasn’t seen. Here we are though 8 years later and Riley is beating the odds! So .. in the spring we will reevaluate going to 3 months. In the spring will be Riley’s 9 year transplant anniversary. AMAZING!! Let’s get good results from his yearly cath and bronchosopy and go from there. Also in the spring cardiology should be moving to the same building as pulmonary. That would certainly make seeing both teams and doing all the testing involved with seeing each team a little easier.
Next week we head back to CHOP to see dermatology. Riley has clusters of warts on a knee and elbow. With Riley being immune compromised we don’t want to try and treat the warts ourselves without guidance from a doctor so his team suggested a visit to dermatology. This will be the 11th specialists Riley sees.

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

Try something new.

Time to try some Duocal! The plan is to stop Riley’s morning feed and instead to eat breakfast. Then eat lunch at school with the rest of the kids. After school he’ll get his gtube feed with Duocal added along with some vitamins. Riley will still need to go to the nurse at school for a water bolus since he is not able to drink for hydration due to aspirating.
Fingers crossed that Riley is able to maintain his weight/growth. Last time we tried transitioning to eating orally Riley continuously lost weight. As Riley’s parents, though, we believe it’s time to try again and made the request. We will monitor closely and if he struggles with eating enough or starts losing weight we will reevaluate.

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

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