One sister is a PhD in Plant Genetics.
One sister is PhD in Mechanical Engineering and PhD in All Things Alexis.
Luckily for me, both of my sisters are a single phone call away at all hours of the day to help me care for Alexis.
Numerous phone calls to my ER Doc sister, "Do we take her to the ER?" "Is this normal?" "Can you translate what the Dr told us?" On several occasions, her response was "Hang up the phone, pack a bag, call an Ambulance or drive to Children's." The one time when Alexis was blue and not breathing, I called 911 immediately. The second call to my husband. The third call to my sister to ask what tests they would need to do (by this time Alexis was 'back-to-pink' - THANK GOODNESS!)
So I should get back to the point of this post. Alexis has had 6 different geneticists do genetic work-ups. Each time, they talked to me in a foreign language (it was Genetics-ese). I'm sure some readers will relate to this. Once I could get a report, I could send it to my sister for translation. Both of my sisters are amazing at melting down the essence for me (and I'll brag a little here, I'm probably a little better at taking action than they are :P if they are reading).
Yesterday I heard a great article on NPR Marketplace which I had to post - about the advances in Genetics for diagnosing genetic abnormalities (remember that even though we have found lots of little hints, we still don't have a name other than Alexis Schnaderbeck Syndrome).
Here is a great quote from the mom in the article:
“There’s so much that falls apart in a normal family life because you are living a very medical life. So if other families didn’t have to go through that kind of medical odyssey, it would save a lot of people’s lives in a lot of ways,” she says.
Moseley says it’s unlikely the discovery of Leta’s condition will help her. But it’s clear the technology that solved her medical mystery has the power to provide answers that until now have been out of reach.
The other 'small world' item from this - we sent Alexis' bloodwork to Dr Krantz in 2007 to rule out Cornelia de Lange Syndrome. It was great to 'hear' from a doctor who I had only previously emailed with regarding Alexis' mystery diagnosis.
I can't wait to see how this evolves further. I obviously understand Dr Eric Topol's point that unless it helps reduce costs or improves outcomes, it won't be widely accepted. But for us, we have learned so much from our adopted CHARGE Syndrome community, I would love to find the other Alexis Schnaderbecks in the world to build a community - and that is where we can reduce costs and improve outcomes, by connecting patients and experts!
Until then, we are a happy rare island! (Thankfully surrounded by family and friends who support us along the mystery diagnosis journey).