Wednesday, August 24, 2011

We have a diagnosis

After 3 solid years of searching for a diagnosis, last Friday, August 19th, genetic testing confirmed that Meredith has Variant Rett Syndrome due to a FOXG1 mutation. It's still settling in since we had pretty much come to terms with the idea that we would never get an answer. It's strange and surreal to think that the hunt is over, but we take great comfort in knowing what we are up against. Today we met with a Rett Syndrome pioneer, Dr. Khwaja, who is the Director of the Rett Clinic at Childrens' Hospital. He confirmed Meredith's diagnosis and told us he thinks in the coming years, it will become known as FOXG1 Syndrome, instead of Variant Rett. The FOXG1 gene was identified in 1994 and only linked to Variant Rett in 2008. Khwaja expects increased focus on FOXG1 as a result of the recent discovery and we hope this provides more information or even treatment for kids with this form of Variant Rett. To give you an idea of it's rarity, Meredith is only the third child Dr. Khwaja has ever diagnosed with a FOXG1 mutation.

With typical Rett Syndrome, kids have a period of normal development and then hit a point where they begin to regress. There are a few different kinds of Variant Rett, but with Congential Rett (meaning from birth) kids never have that period of normal development.

The FOXG1 gene tells the body how to make certain proteins important for brain development and growth and Meredith has a truncated gene. He said Meredith's exact mutation has never before been documented, but from the looks of it she falls into the "moderate to severe" presentation of the syndrome. He gave us a lot of information and the majority of it was actually good! Here are a few of the highlights:
1. NO REGRESSION - woohoo!!!! Meredith should continue on her leisurly path of development and make small gains. She won't lose the skills she has acquired.
2. This is a spontaneous defect that happened in development, so there is no need for Greg or I to be tested and no reason for us to think we passed this along to her.
3. Around the age of 10, many kids see a decrease in seizure activity. In some kids, they go away completely.
4. Walking/moving around is still on Meredith's wish list!! He said the biggest obstacle with FOXG1 kids is the ultra-low muscle tone. But with continued therapies, stander time (and he wants her using a gait trainer), she can make substantial gains in this area. Some kids do eventually learn to walk, but not until very late, age 8 or 9. We were given a script for 2 vitamins that can help with the growth and maintenance of muscle tissues to help with Mer's low tone: L-Carnitine and Ubiquinone. We are excited to get her going on these asap!
5. Nearly all kids are non-verbal. Not great news, but there are so many other forms of communication we can focus on and of all the losses we have mourned with Meredith's development, for some reason this one falls to the bottom of the list. Plus, having a husband who jabbers enough jibberish in the household for 5 three years olds gives us our fill : )
6. Meredith's life expectancy is about 40 years which we've been told should continue to be happy and healthy.
7. He recommended getting another MRI to get a better look at Meredith's brain since her last one was done at 9 months when the brain is still mostly water. This could provide more clues on her overall development moving forward.
8. There is a slight risk as kids get older of developing an irregular heart beat so we repeated an EKG to keep an eye on that. It's actually only documented in typical Rett, but we'll keep an eye on it as a matter of course. If it were to develop, it can be easily treated with medication.

There is amazing research being done right now on Rett and scientists have actually been able to reverse the symptoms in mice. We asked Khwaja if this is something we can be excited about for Meredith even though she has Variant Rett. He said they are working on creating a FOXG1 mouse now : ) We have high hopes for the future discoveries that will be made. Here is a link I found especially fascinating that explains the mouse study. Meredith was also asked to participate in a medical study - readily accepted with a squeak and a giggle - which will help promote additional advancements in the field.

This diagnosis and the appointment today has provided Greg and I much closure when it comes to this journey. We both agreed today that when we came home, we felt as if we had finished a perpetual Iron Man and we could finally sit down. We can move forward with our lives and most importantly continue to provide Meredith every opportunity to thrive, knowing that the gains she makes are hers to keep.


  1. oh laura. i have the chills reading this. isnt dr kwhaja awesome? I was able to see him at the rett conference in boston this past may. if there is ANYHTING I can do to help you please let me know. I know its a little different than Rett syndrome, but Im here for you nonetheless. please call me or email me anytime. let me know if you want my number. big hugs. xxoo

  2. Laura I'm so happy to hear that you and Gregg found an answer! This is such good news. At least that weight is lifted off your shoulders and you can move forward. I'm going to give you a big hug when I see you next!!

  3. Congrats on the diagnosis. My friends all think Dr. Khwaja is a hottie. LOL! He's also in our list of specialist. :D I'm so glad for you guys! :D

  4. Hi Laura,
    I was searching on the internet for more information about Fox G1 syndrome.
    I came on your blog.
    I'm sorry for the bad English, but i'm from Belgium.
    I have a little daughter, Pauline, she is now 21 months old.
    When i look at your picture's it's like seeing my own girl.
    When i read the information you describe about Meredith it's like the picture is complete for me.
    At the moment there is research for the fox g1 diagnose for my daughter. Whe are waiting and waiting for an answer.
    First we tought about Rett Syndrome, but they already said us she doesn't have Rett.
    Do you know what funny is?
    You have the same name like me and my husband's name is Gregory!
    Will you make contact?
    My e-mail:
    Greetings Laura

  5. My son Adlai (20 months) was diagnosed around 12 months. I have found lots of support and information from a facebook group called "Fox g1- congential variant of retts" which is connected to the recently established "International Fox g1 Foundation"-a non-profit working to fundraise for research. Exciting! Please join us! The group is closed, so you'll just have to email the admin (Jenn).

  6. My daughter was just diagnosed with this as well. Please share anything and everything.

  7. I am a general pediatrician and I just recently diagnosed a 15 year old. She had the diagnosis of autism spectrum disorder for most of her life. Would those of you think it would benefit the family to see Dr. Khwaja? She is high functioning no seizures but mentally challenged.