My name is Alyah and this is my 22qt Jonah! Our 22q journey began at my 26 week ultrasound when we learned the heart breaking news about our baby boy, we heard the words “He has a heart defect”.
That day he was diagnosed with Truncus Arteriosus. Immediately after that our doctor mentioned that Truncus was commonly known in 22q. As much of a nightmare that day was, I will forever remember the doctors knowledge on the syndrome being related to this defect. We didn’t know for sure that he was diagnosed with 22q as we didn’t move along with further testing in utero. The rest of my pregnancy was considered high risk, Jonah had quite a few fetal echos by multiple doctors. We were still given the diagnosis of Truncus.

On September 14, 2018 Jonah was born. He was 6.9lbs and although we knew he had a broken heart he looked great and he was perfect to us! But we also learned his defect was a lot more severe than it appeared in utero. His official diagnosis was Tetralogy of Fallot, Pulmonary atresia, MAPCAS with VSD. I immediately asked the doctor if they sent off his genetics testing and he informed me that his thymus was misplaced, which indicated that he did have 22q.

We spent a week in the CVICU for observation and testings at Childrens. On our last day we were given his official diagnosis of 22q and we were also informed that he would undergo open heart surgery around three or four months of age. During our first few months at home we spent a lot of time at different specialists checking everything that was commonly diagnosed in 22q. We did discover he needed immunoglobulin infusions, as he wasn’t progressing well immune wise.

Fast forward to 4 months of age and Jonah under went open heart surgery. Although the surgery itself was successful, He did have to put up a bit of a fight. He lost a lot of blood and had to receive chest compressions in the OR. As well as having paralysis in his left vocal cord, which caused complete aspiration on all levels of thickener. After multiple swallow studies and a case of RSV we were discharged 3 weeks later on a NG tube.

We thought we were in the clear for a few years, unfortunately a couple of months down the road Jonah grew an unwanted collateral that caused him to go into heart failure. He developed stridor, slept most of the day, and started to lose weight. It took a few weeks for his doctors to decide if another open heart surgery or if a catheterization was a better option. Jonah was able to receive a cath, it was a long and hard cath, But it was a successful one. He was finally strong enough to be able to come off his feeding tube, and he gained all of his energy back. He has been thriving ever since. Over time Jonah has received 6 caths, and has had 3 stents placed.
He is now 2 years old and healthy as he has ever been! He enjoys riding horses and wrestling his big sister Laylah.