Hi all, I thought I would introduce myself!My name is Cindie and have a wonderful 19 month old son named Tyler or TJ. for short. I also have an ALMOST 4 month old named Mason who is a "typical" baby. let me start off by saying I love anything medical and read case studies and stuff like that for the enjoyment of it. I'm great with terminology and remembering facts.
I carry a rare genetic skin disorder called EHK or epidermolytic hyperkeratosis. Basically I make skin cells 300x faster than you do. It's a 1:300,000 occurance but once someone is born with it then each baby they have has a 1:2 chance to be born with it also.
when I was 16 weeks pregnant with TJ I had an amnio done to check for the skin disorder because babies with EHK are born with their skin torn in some places and it blisters also so it's best to have a Csection and minimize the risk of infection and Sepsis.
a week later I called to see if they screen for down syndrome , and I don't know why I did it, I just had an odd feeling. That night they called to tell me that the baby tested positive for down syndrome and that he was a BOY. about 6 weeks later I found out he did indeed have the skin disorder too.
We went through ALOT with TJ. He was born at 35w5d due to Oligohydramnios or no fluid. Despite a clean fetal echo at 23 weeks the day he was born we found out he had 3 holes in his heart. 2 ASD and 1 huge VSD.
He came home after 1 month in the NICU and he had an NG tube at that time. While in the NICU he nearly died of an adverse reaction to Lasiks which is a med used to help ppl in congestive heart failure. His potassium levels skyrocketed although he wasn't on ANY potassium supplaments. Lasiks normally has the body waste potassium (pee it out) His levels were 7.5 and they retested him thinking it was a mistake. Then his levels were 9.0 . Normal levels are 3.0- 5.0 and normally if your potassium or calcium get too high or low and it causes an arrythmia. They put him on sodium bicarb (baking soda) to treat it and it worked. I tried to get the dr's to take him off the lasiks but they said that there was no way it was causing his potassium to go higher.
later a nurse who I befriended suggested we take him off for 3 days and use other meds instead (captopril) . His problem resolved after that.
he came home and went back for his open heart surgery at 10w old because he had failure to thrive. he had surgery on Nov 4th 08 and came home well, he spiked a fever 2w later on thanksgiving night. His body had rejected the metal closures in his sternum. He kept rejecting the other things they used and ended up staying 3 LONG months in the cardiac ICU and 6w of that on life support..
He came home with his chest still opened about 1 1/2-2 inches long and about 1/2 an inch deep and I had to pack and clean it 2x a day. He also had a Picc line for 3 days that I had to use for IV meds.
he is healthy now and the day the cardiologist told us we didn't have to follow up for a year. was AWESOME.
Wow, what a story! Have you ever thought about writing a book about your journey? (I say this because I am currently writing about ours, and I have published a book already.) Now, while for the most part, Hunter's entrance into this world was mostly unremarkable, and his medical issues quite minimal (An original 8mm ASD which has closed to 2mm in 6 months) I still decided to write about us. I think your adventure would definitely be worth writing about!
In any case, welcome to the site!! And please - post as often as you can!! Brags are important!
Sandi (Dragon1973) Moderator
I have thought about writing about his story, but I don't have the time to sit down and write everything out right now, lol. I guess I could take my blog and print it up and publish it. When TJ was born I had several blogs going and condensed them into 1 on blogspot. As far as I know TJ is the only baby in the world with both EHK and Down Syndrome. I haven't read or heard of another baby ever born with both disorders.
These days I get ppl thinking both boys are twins, lol. Today hubby and I were at the store and 3 or 4 ppl thought they were twins, and when I told them nope they are 16 months apart they were pretty stunned, :)
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