At 9am on Friday morning, we received an email (in our special encrypted inbox) and after scanning the nine pages as quickly as possible I found the official diagnosis. Rae has Rett Syndrome.
What's that you ask? Well, here's what we have learned so far. Full disclosure: I'm taking this straight from the International Rett Syndrome Foundation (I'm also giving you a shorter list).
- is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.
- has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay
- is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”
- 1 of every 10,000 to 23,000 female births. strikes all racial and ethnic groups, and occurs worldwide in
- not a degenerative disorder. is a developmental disorder. It is
- causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.
There's the bare bones of the matter, but there is SO MUCH more that can be said about Rett Syndrome and I've only just started scratching the surface. There are two points that hurt the most:
First, the children (primarily girls) are robbed of their ability to speak. Not just verbal communication, but also sign language. Our dreams of hearing Rae say "Mama or Dada" just got blown to smithereens.
Her iPad will be even more important than we initially thought and we may have to look into other forms of communication that focus on her eye movement. But we have time to learn about alternative communication options as we venture further.
Second, the hope of her walking independently just became even more unlikely. Some children do learn how to walk, but it isn't unheard of for them to "forget" and then they are once again immobile. That means modifications for our home that I was thinking about a month ago (against the advice of friends and family) are going to be needed. This includes: a wheelchair ramp (front and back porch), a new bathroom that is wheelchair accessible, modifications to our kitchen, and just about anything else we can think of that will make her (and our) life easier.
Since finding out her official diagnosis, I've already made contact with three support groups, one foundation, and another charity (see links below). During my conversation with the family support coordinator (Paige) at IRSF, she informed me that they just opened a Rett Clinic in my city!! I was so stoked and felt kind of blessed in an odd way. We have a direct link to support and there must be enough families in my local area to warrant a clinic. We are not alone!!! Amen!!!
Here's the biggest blessing in disguise. We're in the middle. We seem to always live in the middle. She was not diagnosed with something that came with a projected life expectancy (my biggest fear and frequent prayer...my heart aches for those families living with that reality...Two Lil' Fighters are Connor and Ellie!). She also was not given a diagnosis that came with a cure (best case scenario). So, here we are...in the middle...and you know what we can live with that.
Now, I'm sure the emotional swings will come and go and right now I feel like I am in a good place, but who knows how I'll feel tomorrow. But right now...I feel like I can take on the world! Hand us some Louisville Sluggers because baby girl,
"We got this!"
*For more information about Rett Syndrome please see the links below:
International Rett Syndrome Foundation (IRSF)
Girl Power 2 Cure
The Everything Rett Site