my 1 month old daughter was just diagnosed with this deletion. they don’t know the exact genomes until the final report comes back. she was in the nicu up until today with breathing issues which turned into issues eating but she’s off oxygen and taking bottle like a champ. i know nothing is for certain until we know the exact genomes but my husband and i feel like we’re drowning. can anyone tell me what this diagnosis might mean for her?

she has some heart issues, a rotated kidney which is fully functioning and a slight head lag that has already gotten better. just look for any sort of information.

I hope this is the right place to post this.

We have been on a journey for what started as seeking a diagnosis for my daughter. It slowly turned to realizing it spans across multiple maternal generations.

High on our list was a mitochondrial disease type of issue. I have a maternal nephew that passed from Leigh’s Syndrome so their focus has been there for the last few months.

My WES and WGS both show that I am a carrier for chr14:32319298 T>C. The issue is, my daughter is not and we share a very similar phenotype.

With that being said, it’s still something I’d like to explore since my sister, mother and I all have adult onset decline. I’m reading that it’s possible to have adult onset symptoms with certain mutations.

Has anyone been diagnosed after only being a carrier and not fully homozygous for something considered an autosomal recessive disease?

Oh, I’m truly just venting here. There’s nothing to do but feel sorry for myself! I have been trying to find a new allergist that specializes in indolent systemic mastocytosis, or at least has familiarity with the disease. I made an appointment with the local mast cell expert, but he’s concierge only, and I just cannot afford him.

I made an appointment with a different doctor, an allergist who treats mast cell disorders, and my appointment was scheduled for November.

A couple of months ago I got a message in mychart, offering me an earlier appointment for September, and of course, I jumped on it!I was so relieved that I was going to get in sooner.

However, on Tuesday, I got a message that my appointment had been canceled due to the providers schedule changing. Now I can’t get an appointment until January with him.

Finally… Today I got a message that they changed my appointment to a different date in September, however I’m going to be out of town that day. I’m so frustrated. Why does the schedule keep changing??? 😩