Genetics Appointment 2q23.1 Lab Results

I am going to post whiles its fresh... I guess I should mention first, that it has taken us 5years to get to this point. It was 5 years ago Asia began having grand mal seizures (she was 2yrs) and it all escalated from there. Asia has been through a lot on this journey and I have a lot built up inside. I have a lot of history to still cover on this blog but I am somewhat relieved to finally be sharing "some kind" of diagnoses with you.

Asia had her first appointment with a geneticist today at Primary Children's Medical Center in Salt Lake City UT and I thought we had a great appointment. We talked for a good 2 hours. Asia is the first one he has ever seen with this deletion. The test they performed is called a "Cytogenomic SNP Microarray" and they have only been performing it for about 5yrs and it keeps getting better & better with finding information. Because this is so rare or "undiagnosed" he does not believe it came from Mom, Dad or family history. As far as he knows nothing caused it-no environmental issues etc.

It sounds like we are in the beginning of learning about a whole new bunch of disorders or finally being able to see what is causing them with this new testing. Research will be slow because until there is thousands of people who need care, research/medicine companies don't put a lot of money into the research.  Her Doctor gave props to the parents of children with rare diseases. Parents can find out what works what doesn't sometimes long before research is done. We have recently become part of a couple of 2q23.1 groups and we are gathering information for brochures (they need more volunteers with this deletion!) They will be used worldwide. Hopefully, I can do what I can to possible help Asia and others in the future. Medical science changes all the time and maybe one of these days they will learn how to add some of her missing information back in:) Should be interesting. In these groups all the kids involved have the almost the same symptoms as Asia. It's very interesting. We will just take it day by day right now:) and see what we can figure out.

I really want to be able to help her and help others that may be looking for answers. There are so many kids that have no diagnoses for their problems. It took us 5 years. Email me if you have any questions and I will do what I can to help.

Sharing a couple facts from her Lab results:

Cytogenomic SNP Microarray

The analysis showed a deletion involving chromosome 2 (2.8 Mb deleted) from 2q22.3 to 2q23.1
includes PABPC1P2, ACVR2A, ORC4, MBD5, EPC2 genes.

Haploinsufficiency of the MBD5 gene appears to be responsible for most of the features seen in the 2q23.1 microdeletion syndrome, where patients may present with a variable phenotype that may include: intellectual disability, developmental delay, motor delay, language impairment, infantile hypotonia, seizures, autistic features and craniofacial manifestations.

Asia is very special. There are things about her that we may not know until another life:) She is being protected and watched over everyday. I will learn a lot from her:)