My daughter has a genetic disorder
I have been debating about posting this for a while now, but I thought that maybe if I did someone could relate. (Long post)
When my daughter was 4 days old I got a call from Knoxville Tennessee Genetics. The lady on the phone said "your baby's newborn screening came back abnormal" I had been told at the hospital before we left that sometimes that happens so I didn't really think to much about it. She then says "how long has it been since she ate" I told her she has been a sleep for a while. The nurse started saying "wake her up and feed her right now". She then went on to say "your daughter tested positive for a genetic disorder called MCAD (Medium-chain acyl-CoA dehydrogenase deficiency) she needs to eat frequently or her blood sugar could drop and she could start having seizures."
My daughter was 4 days old and I got told that my perfect little angel had something wrong with her. My emotions were already all over the place from having her now someone is telling me something was wrong with her.
The lady then told me I should take her on to the ER to make sure she was going to be okay.
Niswongers children's hospital is where we decided to go. We had heard so many amazing things about it.
When we got there they needed to check her blood sugar and to do another newborn screening.
That's when the 2nd part of our nightmare began. They decided they needed to catheter her to check for a UTI which had nothing to do with why we was there. Catheter, a 4 day old baby 4 DAYS OLD! Of course they couldn't get it. They then needed blood for her newborn screening and to check her sugar. They tried a vein in her head couldn't get it, they then tried her hand. The guy doing it blew the vein out and still continued to dig. I had to tell him to stop. They then decided to get it out of the bottom of her foot where they knew they could get it from.
We had to take her to the genetic specialist in Knoxville in August and they called last Monday the 17th saying that she for sure has MCAD.
We have to feed her every 3 hours like clockwork. Her body cant break down the fatty acids in her food to turn it into energy therefore if we don't wake her up to feed her this often her sugar can drop which could cause her to have seizures. This is not something that will go away its something she will have for the rest of her life.
If she gets sick and has a fever we have to take her straight to the ER to get fluids because her body can't replace her energy quick enough.
It's extremely rare, me and my husband both carry the gene and that's how she got it. If we have more children they will have a 25% chance of getting it as well.
I felt like maybe if I shared my story that someone might know someone that has it and could maybe enlighten me on things to come.