This is a post that I have been waiting to write for almost a week. I waited, in part, because my husband and I needed to digest the information. Because of her challenges and a few physical anomalies, my husband and I decided to do some genetic testing on Lyra when she was admitted into the hospital this last time. Before getting discharged last week we received the results. Lyra has, not one, but two very rare genetic disorders.
Lyra has been diagnosed with trisomy 9p syndrome and 16p deletion syndrome. Not only are both very rare on their own, but there are no documented cases of a child having both. That doesn’t mean it hasn’t happened. After all, genetics is a new science. This leaves my husband and I in a tough situation. There is little information out there about either syndrome (and nothing about her specific diagnosis for 16p that I have found). For both syndromes, severe intellectual challenges have been documented. Physical challenges are also a likely possibility. However, in the case of 16p deletion syndrome, there has been at least one case of a child have an IQ of 130ish.
Basically, we now have more questions than answers. We have absolutely no idea what expect. We could have a child with mental retardation and extreme physical challenges, or a child with some physical challenges and/or intellectual challenges (such as a dyslexia). Or we could have anything in between. We literally have no idea. This is why my husband and I have needed time digest everything.
So, where do we go from here….. Honestly, we don’t really know. At this point our plan is to celebrate the accomplishments she archives (like smiling, cooing and making eye contact), and seeking out help when she struggles with something. We recognize that she will have major challenges, but if we play the “what if” game too much, we won’t be able to handle day-to-day life or enjoy our little girl.
So here we are.
- 16p Deletion Syndrom – http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf
- Trisomy 9p Syndrome – https://rarediseases.org/rare-diseases/chromosome-9-trisomy-9p-multiple-variants/