Long day. Let me start by saying we didn’t get the news we had hoped for, however we still are hopeful that we can stop this aortic root dialation. Her echo showed. 3 growth in her aortic root dialation which is not what we wanted. We wanted it to stay steady (with no growth) CardiologyContinue reading “Cardiology follow up and qsart testing”
Tag Archives: Ostomy kid
Infusion # who knows 😂
Yesterday ethen had his eye appointment. His script has changed (gotten worse) but with new glasses they got him to 20/20. However we are screwed if his glasses ever break because he’s way past the eye sight for driving (when it’s time). We will always make sure he has a spare pair w him. HeContinue reading “Infusion # who knows 😂”
So we have had a few people ask for updates from yesterday. It’s tough. It’s emotionally draining. I needed a day to think through it all, discuss it and then find a way to explain it. We left with another new diagnosis and no new treatment options. For the second time in 8 weeks weContinue reading
Tree drive drop off and Drs appointments
Another busy day. Addyson had two Drs appointments today and home hospital teaching. We also decided that today would be the tree drive drop off date and lunch with a friend! First appointment was with one of addysons autonomic dysfunction Drs. She agreed we are on the right path and have already tried all theContinue reading “Tree drive drop off and Drs appointments”
Cardiology, infusion and swim meet
Another busy day. It started with addysons cardiology appointment. We found out her echo was abnormal as her aortic root is enlarged. It cannot shrink back however we need everyone to hope, pray, whatever it is that you believe in. We need addysons aortic root enlightenment to stay under 3.0. Hers is close to theContinue reading “Cardiology, infusion and swim meet”
Surgical follow up
Today we had addysons follow up with her surgeon. I know it’s odd to still have a surgeon one year post her most recent surgery, however he will follow her for years because he’s also the one who will do her next surgery, which will most likely be her pectus excavatum repair. Today we discussedContinue reading “Surgical follow up”
Whole Genome Sequencing
Addysons Whole Genome Sequencing came back after some mix ups. Her blood work from today also came back abnormal In her genome: They refound her MEFV Gene and her CHRNB2 Gene. They also found another gene: UGT1A1 *1/*28. The ugt1a1 gene means that she is a Intermediate Metabolizer. We were told that this means thatContinue reading “Whole Genome Sequencing”
Regroup
Ethen did not get into the school that we thought was a good fit. We will regroup and figure out another plan. 😞 just feeling very defeated. Addysons sleep study showed a sleep disorder. Basically she isn’t getting into REM sleep and she’s having some central apnea spells because her brain is not signaling toContinue reading “Regroup”
Addysons always one step forward and two steps back
Today we found out that we will be going forward with the sleep study. The dr is confident that Addyson us some type of sleep disorder. With that being said she’s hoping that starting addyson on iron infusions for her dangerously low ferritin levels will prove helpful for sleep, memory, attention, energy levels and more.Continue reading “Addysons always one step forward and two steps back”
Geneticist and surgical follow up
An X-ray and two appointments today (geneticist and surgeon). The geneticist went well. We have a new one. Our prior one left. I like this new one though. She seems good. We discussed a lot (whole genome testing, reanalyzing her whole exome sequencing, doing genetics on both grandfathers who she inherited genes from and weContinue reading “Geneticist and surgical follow up”
Beaming with hope 