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Would love to connect some dots for my son...
Hello everyone! First, let me say that I wish I had found this group months ago. I am so happy to have finally found some decently active CHD boards. I am actually an AHA ALS & BLS instructor, so I’m really not sure why looking here didn’t occur to me sooner!
My son is nearly 6 months old and is doing pretty well now, but he has some medical issues that are all uncommon and seemingly not related to one another. He is developmentally normal. Genetic testing has all come back normal, though we have never heard back on the complete microarray test nearly 4 months ago. I’m starting to think that it was lost. I’m hoping to find someone else that may have the same things going on that has maybe been able to find what connects all of the things...if such a thing exists.
Here is “the list”:
Had a two-vessel umbilical cord (sometimes associated with heart defects)
Coarctation of the aorta (repaired now)
Partial anomalous pulmonary venous return
Hydronephrosis (extra fluid in/around kidney) and some calcifications
Metabolic issue diagnosed as CMO Type II deficiency (can be genetic and causes electrolytes to be off, calcium/phosphorus in particular)/related aldosterone deficiency.
Please if anyone knows of someone that has two or more of these things together, let me know if any doctor was ever able to make any connections between them! The best guess early on was DiGeorge Syndrome, which he tested negative for.
AHAASAKatie, December 17, 2018 8:37am EST
I am so sorry your family is dealing with this! My daughter has a joint connectivity disease that took years to diagnose and manage. While her heart is not impacted yet, I can understand how challenging this is for all of you and hope that you find answers soon. Best Katie
Lyoakam, December 18, 2018 1:53pm EST
Hello! I am glad you found this group! Your son's case does sound extremely complex and unfortunately I am not much help☹️. My son has HRHS PAIVS. But I wanted to provide you some support and encouragement to keep searching for answers. If you haven't already send his records to Boston Children's, UofM Mott Childrens, Chicago Children's and Texas and get their insight. They are the top 4 CHD hospitals in the Nation and they would know best. Good luck mama and keep us updated, if you can!
DolphinWrite, March 10, 2019 10:14pm EST
Hello. I'm so sorry you are going through all of this. I know advances in medical are always improving. I hope and pray for you and your son. I hope more people can share their experiences of hope. God bless.