The minor defect- Clubbed feet.
Clubbed feet is in no shape or form a life threatening condition, and therefore the least of our worries. Fiona has bilateral clubbed feet, meaning both feet are turning up and in. After a scary trip back to the hospital 2 months after she was born because of casting interfering with heart conditions, we decided to hold off to fix the feet till her major health issues were resolved. She had to wear casts on her legs that went from diaper to toe for 3 months, getting them changed every week or two weeks. Before her last set of casts, they did a tendanodamy, a minor surgery to lengthen her Achilles tendons. All this, followed with 4 months of special shoes worn 23 hours a day and then 2 more years of wearing them at night. We are currently in the last stage of just wearing them at night.
read about the clubbed feet
the first scare
getting the shoes with the bar
The major defect- full AV canal defect and only one valve.
This was the thing in the ultrasound that got them looking for other issues. At 16 weeks gestation, my ob noticed that something with her heart was not right. We were sent to specialists, and after 7 hours of ultrasounds they concluded she had a text-booked Transposition of the Great Arteries, one valve and a full AV canal defect. Two months later the Transposition of the Great Arteries, the most fatal of the three defects, would just "disappear". We had to deliver at a special children's hospital 2 hours from our home to make sure she had the presence of top ranked cardiologists and surgeons. Thankfully, we were able to hold off the surgery till she was 5 months of age and it went absolutely perfect. She is still catching up with development and growth that her weak heart kept her from prior to surgery.
read about the heart surgery
The syndrome- Mosaic Down Syndrome.
After the findings in the ultrasound, we opted to do further testing to see if there was an underlying syndrome that caused her defects. Trisomy-21 was the culprit, and it was highly suspected she had the rarest form, Mosaic Down Syndrome. Some time after conception, either a cell lost the extra 21st chromosome or gained it and all other cells that spawned of that one either lost or had Trisomy-21. Confusing, I know. But in simple-man terms, not all of her has the extra 21st chromosome. Facial-feature wise, she doesn't look obviously Down. And this kind of diagnosis is typically a good one. People with Mosaic tend to have slightly higher IQ scores and almost always are high functioning.
read about Mosiac Down Syndrome
Mosaic Down Syndrome
Mosaic Down syndrome- still learning
Fiona's progress and hurdles are praised and prayed for through-out the blog. We prepared for the worst and got a strong, little, beautiful fighter who is doing the best with all of her conditions. I am one proud and thankful momma.