Looking for genetic advice. I’ve seen genetic counselors in the past, but I would like more opinions. My husband and I have two beautiful girls. Our first is fine. Our second was noted to be perfectly healthy at birth- 8 & 9 APGAR. After discharge from the hospital, she was not eating. She was then admitted to the hospital and noted to be hypotonic by some physicians-not all and continued with poor feeding. She had a feeding tube for a year. In the midst of that year we found out that she has a genetic condition. It is slightly similar to downs but little is known about it.
I am a carrier of a deletion, my husband is a carrier of a mutation. What are the odds? We have a 1 in 4 chance of this happening again. She is now 2 and is thriving! She has surpassed every physician’s expectations and now you would have no idea of her past. She is talking, walking, potty trained herself, and seems to be cognitively average to advanced. We want to have another child. We looked into IVF, but decided not to for several reasons. The reason why she is doing so well is because the deletion that I have is very short. I at one point decided that if she is my one in four, what do I have to fear? But I do fear my deletion lengthening and we have a child that is more affected. So basically, how often does it happen that a deletion lengthens? What are the odds of that.? Thank you in advance for reading and advice.