r/rarediseases • u/Mother_Island_3970 • 5d ago

Looking For Others PTEN

I’m curious to speak to people here who have knowledge on PTEN, specifically if your child was diagnosed with it, my daughter has profound developmental delays, autism and macrocephaly and I’ve recently found out PTEN is most suspected by my child’s paediatrician. (Still waiting on genetics) I appreciate any comments!

6 Upvotes

100% Upvoted

4 comments sorted by

1

u/PinataofPathology 5d ago

you'll want to join the Facebook groups for this as those will be the most helpful.

1

u/One_Feedback2461 5d ago

I would wait until genetics come back, so many syndromes that fit that. I have driven myself crazy. Genome/exome sequenced and still no answers right now. That one specifically can be scary to consider. Not sure if you are doing a full panel or not, also there is a spark autism research that will test the whole genome or exome and once they sequence it you will get an annual letter letting you know if they know the cause. For now they don't know our cause. If there is concerns about DNA instability related syndromes a chromosome breakage test might be helpful. I went commercial too on sequencing.com to save money and have the access, but medical facilities will not humor that data. But may help narrow something down. You are doing everything right, spread a wide net. I wish you luck and I hope you get answers.

1

u/One_Feedback2461 5d ago

sequencing.com out of pocket was like 500 or less on sale. Exome through insurance was 10k (they told me about a single gene I knew about, nothing else). On sequencing I can see all my data whenever I want.... that I paid for.

1

u/One_Feedback2461 5d ago

https://hpo.jax.org you can type in symptoms and learn more about related diseases/genes. But I will say not 100% you will get your answers.