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.
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.
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!