PWS experience
My daughter (she is currently ~3.5 months old) was recently diagnosed with Prader-Willi Syndrome following a 29-day NICU stay due to hypotonia and poor feeding.
Everything with the pregnancy was completely normal, but when she was born, she had a very weak cry and was incredibly floppy, so we instantly knew something wasn’t right. Her MRI, EEG, and standard bloodwork all came back perfectly normal. The only answer we finally got was from the genetic testing.
We just started growth hormone therapy, and things have been getting a little better, but her head control is still very weak and she is still very floppy. She’s doing PT once a week and is now able to drink her bottles entirely on her own (5oz every 4 hours). In order to leave the NICU, she unfortunately had to get a G-tube placed, but we haven't needed to use it for long and actually plan on having it removed soon.
Her results show she is missing 4.6 Mb on Chromosome 15. I’m not sure if this size aligns with what others have experienced with standard deletions, or if the size of the deletion is considered more or less severe?
Before this, I had never heard of this syndrome. I know there is nothing we can do other than give her as much support as possible, but if anyone is willing to share what their first year looked like or their experience with a similar deletion, I would greatly appreciate it.
I have already started looking into clinical trials for gene therapy. I know researchers have successfully activated the dormant maternal Chromosome 15 in lab settings, so we are holding onto hope that this technology will reach human trials in the coming years. We are ready to do whatever it takes.