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Tetrology of Fallot & Infantile Spasm Question
My daughter was diagnosed with Tetrology of Fallot shorty after birth. She also has Colomboma, Dr's are going to test her chromosomes to see if there are any other issues they are missing but had difficulty getting blood. Does anyone have any experience with TOF?
Recently she has started this "whining spell" that she makes the same sound over and over while staring off and won't respond to anything, could this be a type of infantile spasm?
I'm sorry if this is scattered, I'm so worried about everything I'm having a hard time keeping my thoughts together.
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Re: Tetrology of Fallot & Infantile Spasm Question
In our experience, DDs seizures (originally thought to be IS, as they presented like IS) were eye rolls which changed over into jerking movements (kind of like when your arm or leg jerks when you are falling asleep). At the worst her arms would jerk up while head/torso would go down.
While she turned out to not have IS, she did have a rare form of myoclonic epilepsy. I would bring this up with the pediatrician and try to get some video of it so they know exactly what you are talking about.
My son has TOF and Absent Pulmonary Valve. He was diagnosed in utero after the 20 week ultrasound. We then got an amnio to see if he had any chromosomal abnormalities. The amnio results showed that he had a microdeletion on the 22nd chromosome. He has 22q deletion syndrome, or DiGeorge syndrome. This syndrome has a wide variety of complications or traits. It affects different kiddos differently. Our son had his heart surgery at 6 days old because the absent pulmonary valve caused serious airway complications. We had a long hospital stay.
Sorry you are going through this. I don't know if my story helps or not. Just know you are not alone. I have many heart resources if you are interested.
Mskolman, thank you so much for responding. It really does help to know I'm not alone. I've been posting on the Sept 2011 board since I found out I was pregnant and no one else had any experience, so I thought I'd try here. They did not find the TOF in my 20 week screening, she is not actually missing the valve, but she does have a narrowed pulmonary artery, they will have to remove the muscle that's causing the narrowing during the surgery, along with fixing the hole (if there's more I don't know, I tend to break down during those conversations). We were told initially that her surgery would be done about 6 months of age, (she'll be 6 weeks tomorrow) however her oxygen levels have already dropped to the low 80's so they moved her next appt up to Dec, and told us they will do surgery immediately if/when it hits the mid 70's.
They tried to test her chromosomes but couldn't get blood from her tiny veins, so they are going to try again next month.
I'm really sorry this is so long, I felt like I'd never find anyone with a similar experience. If you wouldn't mind sharing, I'd love to know your resources and anything else you have to share. Thank you again!