Tough Topics

Back in the day, I picked engineering.  I also picked math and I picked Spanish - these were my degrees in school.

When my science-loving-sister defended her PhD years later, I sat dumb-founded at how little I understood about genes, mechanisms, loci, etc.  I used some of those words in school, but usually talking about math or engineering applications - not for plants or human body, for sure!

Here is HDAC8 in all of it's glory.  This is definitely the part of genetics articles that I just look at like a pure foreign language.  

I'm getting there, I can understand differences between mutations and deletions and mosaicisms and germline mosaicisms.  I can even grasp x-inactivation which heavens knew I didn't a clue what that was until June 2017 (when Duke informed me that Alexis was 100:0 x-inactivation).

In the meantime, I called this blog post "Tough Topics."  For sure understanding the actual reason for my kids to have CdLS is tough.

But it was the conversations yesterday with Jessica.  Before school, I chatted with her about her new diagnosis.  She was at all of the appointments where I had described my logic to the doctors and obviously she was the one that gave blood for the testing.  So she should know the outcome of the testing.  I explained that she and Alexis were sisters but stronger than that - they were special sisters that shared a disorder that made some things in life challenging for them.  That Alexis' challenges were greater (feeding, walking, engaging with the world) - and that Jessica had worked very hard to overcome her challenges.

As we were lying in bed at the end of the day (usually watching silly cat or dog videos), I asked her if she wanted to read what I had written about her diagnosis and Alexis' diagnosis on our Family Blog.  She has read other things on the blog, so it's possible she would read those two posts without me around to answer the questions.  We read them. 

Then the tough conversation - in Alexis' blog post I wrote this:

We know someone very close who had a daughter with CdLS who passed away.  

Jessica didn't know the person, I knew the person from a parent leadership class I had taken when Alexis was 4 or 5.  Jessica asked how old was the daughter who passed away?  I said "I think she was older, maybe 25."  Jessica reacted saying "25 is not older.  That's young."  Mom fail.  She's known of CHARGE kids who have passed away, but clearly I have to remember that she's adjusting to a new normal. I will have to craft my conversations better.  

Then she came up with the next question somewhat out of the blue.  To understand Jessica's brain connections, you have to remember all conversations.  Earlier in the week, Jessica had said to me "Mom, I'm going to be a great mommy - I mean not now, I'm too young.  But when I'm old enough, I'm going to be a great mommy."  And I said "yes, you are going to be a great mommy.  Definitely too young now, but I'll happily be a grandma to your sweet babies."  Flash forward to last night - after the brief brush with a topic of mortality - she comes up with "Mommy, will I be able to have babies at all?"  And all I had in me was a "I don't know yet. We have to learn some more."

So, that's the tough topics.  This kid who is challenged by so much, boiled life down into the essence in two brief interactions.

So, scientists / geneticists / doctors - get on it!  When I used to comment that we wouldn't know about Alexis' diagnosis until she was 50, you proved me wrong!  But now, you and I (with what genetics / medical understanding I can muster) - we must answer Jessica's questions!