We had a bunch of appointments today. We had addyson Gi, then I had a thyroid ultrasound, then both kids had pediatrician appointments.
So at the Gi appointment we discussed addysons flush time, dehydration, reflux Meds, and motility testing. We got a referral for motility testing. She will see addyson again in 2-3 months. Overall not really much of an update but needed the appointment to stay on track with the Gi doctor post resection and cecostomy.
I had a thyroid ultrasound….will know results in a few days. Lots of nodules. Hopefully all is fine.
Kids pediatrician appointments were long but we covered a lot. For ethen the pediatrician said his weight height and BMI are great. He is happy with the care from mt Washington.
When it got to be addysons turn w her pediatrician we had a lot to cover….she hasn’t seen him since before her October surgery. We covered her dehydration, tube care, emergency tube X-rays, fever syndrome, Nih clinical trial, motility referral, hip pain and more. He said overall he is impressed with her weight staying within an ideal range with all the surgical stuff she has had going on. He will provide emergency tube care for skin related issues or infection concerns. He agrees with going back on the clinical trial for the fevers and going forward with full motility testing. He said she has some blood levels he plans to keep an eye on due to the genetic variant that was found. He said he will have Nih pull levels in April and he will pull again in the fall to keep and eye on it all. He said she keeps him thinking outside the box and she makes him really have to stop and think about her due to her always having the 2% of craziness happening. (As she almost fell into the table in his office). I said this is our day he said hashtag that!! He agrees that addyson used to present as pfapa but is now clinically a fmf fever patient. He said when she was 2-3 everyone agreed pfapa but we did the Surgery for pfapa and fevers still returned and now with the genetic testing to confirm he feels fmf is her definitive diagnosis for fever syndromes. In all reality our biggest thing with fever is controlling temp and watching seizure activity. He said he isn’t sure if anakinra injections are worth the side effects for short episodes but he is comfortable with us using if her flare is bad. Continue with her daily Nih clinical trial Meds.
Overall very busy day… helps to make sure all the kids doctors are on the same page. We have learned through our journey with rare disease that a clear path forward is not always easy to figure out. Overall the kids internal medicine doctor is amazing. He listens to the big picture, our upcoming medical treatment options and then our concerns and he helps us to figure out the best plan forward. We will continue to work with the kids medical team to develop ways forward.
Beaming with hope 