22q

[Motivated Mama]

I know there are mamas on here who have children with 22q.  I thought it was time to start another thread since the last thread about this was started by me when I was Maine Mama Doula and was back in October (I think).

I don't have a diagnosis yet, but I'm becoming more and more convinced.  My son goes for a genetic consult in January.  Just a quick refresher of why I think 22q is hereditary in my family: 1) My sister died of an interrupted aortic arch. 2) My son had a multicystic dysplastic kidney. 3) DD2 had an surgery to repair an aortic coarctation and now I have a few more things to add: 4) I've been diagnosed with a mood disorder, possibly bipolar, which has a decent correlation with 22q. 5) My son is showing signs of spd (evaluated by CDS) and multiple developmental delays.

DD2 has not had any developmental delays and is, in fact, doing really well.  I hope to find a support system on mothering.  Wish me luck in the upcoming genetic testing!

[jennabean]

My son Al was diagnosed this past late summer... overall I'd say its a relief to have the diagnosis, and truth be told I'd actually suspected 22q from all my internet 'research' but as of now, we're fairly certain that his was just a random occurrence.  That being said my husband I have not been tested, although we might decide to at some future point in time.

Best of luck with your testing in January... out of curiosity, do you have any other possible syndromes in mind?  I had read about 20-30 that had things that pertained to Al and the 22q was pretty far-fetched considering his symptoms, but my gut just kept coming back to it.

All the best,

Jenni

[Motivated Mama]

Only 10% of 22q is inherited, but the offspring of a person with 22q has a 50% chance of acquiring the mutation. I wouldn't suspect hereditary involvement if not for the number of relevant congenital defects in my family (CoA, interrupted aortic arch, multicystic dysplastic kidney) and behavioral histories.

I have considered other syndromes, but 22q is the only one that encompasses everything I mentioned previously. They tested my youngest for Turner, but of course that wouldn't mesh with my son being in the big picture.