One in a billion…

Well, actually one in 7.046 billion. We met with a geneticist this week, and received the results back from Unique’s international database of rare chromosome disorders, and had it confirmed that Emma is literally the only person with this exact mutation. There are two other families in the world with interruptions in a similar place, but not the same. One of those families is in Australia and the other in Canada. It’s really mind blowing.

The meeting with the geneticist was really useful. He explained to us that there are 4/5 specific genes that are affected, and of those only one is really a significant concern. That gene is “Collagen, type IV, alpha 1” or more commonly written as “COL4A1” which looks like this:

This is the gene that, because of it’s disturbance in Emma, causes her to have fragile arteries and susceptibility to strokes and aneurysms. We were advised to learn the signs and symptoms of strokes, but since coming home I have discovered there is very little accessible information about strokes in infants. There is a lot of information about how to deal with an infant who has already had a stroke, and how to spot the signs of a stroke in someone who can communicate, but nothing in between.  This is one of those times where any guidance would be most appreciated. It is so terrifying to have so many unknowns, and taking control in whatever way we can is so important to us. Even if that is just learning warning signs.

A statement that we found concerning is that “in most cases, an affected person has one parent with the condition”, so now Adam and I will be undergoing testing. The silver lining of finding that one of us has it would be that if either one of us has the condition, we have lived for over 30 years without particular affect. Of course, the downside is that the affected parent suddenly needs to start MRIs, MRAs, and all the same tests that Emma has been having.

In other news, our insurance company has confirmed receipt of our appeal letter by way of a phone call. We should receive a letter within the next five days giving us the date of our appeal hearing.

With love,

Katy x