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.
Resources:
- 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/
Learning To Thrive 
Jaime and Mark You are both doing such a great job in your new rolls of parenthood and under very unusual circumstances. Thank you for keeping all of us up to date on the latest with Lyra Jane. She is so adorable. I am sure that cute smile helps to make this all a little easier. We send lots of love to the three of you, Ann and George
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That you both. Yes, that little smile just makes everything seem so much brighter. Her little coos are great too. I will try to post a video in the future.
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I know how final this news sounds, but don’t think if it that way. A genetic malformity runs in my family. Both my mother and brother have it. The strange thing is that my mother is least affected in my family whereas my brother has the most severe occurrence of it. Just because Lyra has defencies, doesn’t mean you will know how they will manifest. The best advice I can possibly give would be to say, never put limitations on her for fear of her failing, support her in each success and know that she is a blessing meant for greatness just as every other child is.
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