I thought I would kick off with a little Q&A session so I will pop on my serious hat for a moment..
What in the world is Trisomy 9 Mosaic?
In very basic terms, trisomy (three) 9 (chromosome number) mosaic (some) = three copies of chromosome 9 in some cells.
In your typical person each cell is made up of 22 pairs of chromosomes numbered largest (1) to smallest (22) plus sex chromosomes X & Y. Each pair is inherited one from the mother and one from the father and totals to 46 chromosomes.
Our Dixie however has 47 in some of her cells and 46 in others.
So what does that mean for Dixie?
We really have no idea what the future holds (does anyone??). The disorder is so incredibly rare that very little research has been done on it. What we know is she has delayed development and some associated health problems. We also know she’s a rare little gem and predicting possible outcomes for her have no baring on what she may become. So we try to be more in the here and now. Yes it’s tough!!
How is she affected currently?
Her heart. She has a VSD (hole) and pulmonary stenosis (tightened heart valve). At present her heart is enlarged on the left side due to the hole, so it’s possible in the future she may need surgery to close it.
She has feeding/swallowing difficulties and is an aspiration risk (when fluid penetrates or goes onto the lungs when swallowing) Her swallow is uncoordinated, all fluids must be thickened and more recently we discovered she is unable to use a cup due to the risks. We are awaiting a review from her paediatrician but it looks like her fluids will need to be tube fed directly to her stomach in the future.
She had an emergency operation to fix an undiagnosed diaphragmatic hernia at almost 9 months old. At the time of surgery they performed a gastrostomy (a mic-key button that sits on the outside of her stomach – usually used for feeding direct to the stomach). This was originally placed to anchor the stomach down but due to her feeding difficulties it’s unlikely to be removed as previously hoped.
She has delayed visual maturation (doesn’t see what she should for her age) and left microphthalmic hyperpigmented fundus (small eye)
She doesn’t sit unassisted but we are working tirelessly on this. She also bears no weight on her legs so we are waiting for a hip X-ray.
Did you know when you were pregnant?
I didn’t. She was 5 weeks old when she was officially diagnosed but I think I always knew there was something different. She was classed as IUGR (Intrauterine growth restriction) at 36 weeks and she was born at just over 37 weeks at a teeny 4lb 10oz. At a day old they found a heart murmur we knew nothing of, and noticed some dysmorphic features. Bloods were taken and the rest is history!
Here’s my 1 day old little lady 💗💗