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This is the letter we sent out to our families letting them know about Maggie.  Some of this references a website that hasn’t been set up.  In truth, I’ve been keeping this blog going without telling my wife since she hasn’t been ready to share the story yet. {{UPDATE}}Most of this we wrote well before we knew what was actually going on, so it reflects what we thought at the time we wrote it.

Hey guys,

We got some tough news about Maggie before we left for the break and I wanted to share it with you.

Before I get started, this is a ton of information.  A lot of stuff you probably have never heard of and may have questions about.  Some of it you may not have even known we were going through. We are setting up a website so you can follow along with Maggie’s progress and it should answer all of your questions.  In all honesty, I probably won’t want to talk too much about it.  Its hard to inform in a 5 minute conversation, what has happened over the past year.  It has been a crazy year.  Most of it was stressful and scary, but we are trying to be in a positive place and don’t really want to rehash what we have had to go through, sorry to sound so blunt.

Also, please don’t post about Maggie and our story on facebook.  Once we are ready to post the website, we will do it.

Our Story

After months of asking the questions of ourselves, of our doctors, of our friends- our pediatrician suggested we get our two and a half year old evaluated for autism.

We knew something was a little off about her.  How she refused to stack blocks, or answer our questions or draw or play with puzzles or really anything that two and a half year olds are supposed to do.

Following doctor’s orders we went to see a developmental pediatrician, Dr. Batra.  She’s apparently the best in our area and came very highly recommended.  We’d been seeing therapists through the Regional Center and they had all recommended Dr. Batra.  The Regional Center is a great thing – it provides early intervention therapy and it’s all state funded.  Of course, sometimes state funded just means you get mediocre therapists, but we were diligent.  We didn’t ask the ones we didn’t like to return and we had them replaced with ones we found highly recommended.  Luckily, both of us are extremely persistent.

We met with Dr. Batra 3 times over the course of a two month period.  After hours of discussing and evaluating our little one, we had a likely diagnosis:

Apraxia.  Sensory Processing Disorder.  Hypotonia.

She didn’t think Maggie was Autistic, but these disorders are no cake walk.  It just means she has a chance of being a typical kid but with a lot of therapy.

Apraxia is a motor planning disorder that affects speech significantly, though in our case, it seems to be more likely to be Dyspraxia which affects the entire body.  In laymen’s terms, while our daughter may know a bunch of words and know how to climb the stairs herself, she has a tough time remembering that she does.

Hypotonia is a low muscle tone problem.  It’s hard for her to build muscle so she’s weaker than she should be.  This also makes it harder to climb stairs.

Sensory Processing Disorder is just like it sounds.  She can’t process the information her senses give her.  So that stair she’s about to climb may look like it’s 100 feet tall one time and 6 inches tall another time.  For Maggie her Visual senses are off.  We receive 80% of our sensory feedback through Vision, so you can imagine this has really affected her development. The other two senses that are problematic are the proprioceptive sense (sense of movement) and the vestibular sense (sense of balance).

Dr. Batra asked us to get bloodwork done to do some genetic testing, just to rule out any genetic disorders.  Everything was fine and then it wasn’t.

The bloodwork came back and Maggie has been diagnosed with Rett Syndrome. This was a kick in the gut.  Rett Syndrome is definitely on the list of disorders that you never want your child diagnosed with.  (www.rettsyndrome.org ) It is a neurological disorder and as of right now there is no cure.  Maggie is high functioning and mild compared to most of the girls, but this doesn’t mean that it isn’t scary or hard.  So now we know why all of the other issues are happening with Maggie, hypotonia, apraxia and sensory processing disorder are all symptoms of Rett Syndrome.  The scariest part is Maggie can lose all of her skills.  We have been told “Use it or lose it”  If Maggie doesn’t use a skill, such as squatting, or eating with her hands, she will lose that skill.  So suffice it to say, we are fighting for her every day, making her use as many skills as possible.  She has lost most of her speech, but we are still fighting for it to come back.  Maggie is very smart, we can see that she cognitively understands everything, her body just won’t allow her to fully communicate.  She surprises us everyday, trying to talk and communicate.

We are setting up a blog/webite to document our journey.  As soon as it is set up, you will have it.  You can check in and see what is going on with Maggie, etc.

Right now, we are no longer with the Regional Center (Government provided therapists and are with private therapists)  Dr. Batra has set us up with an amazing team of therapists who are some of the best in their fields.

We have to tackle the Sensory Processing Disorder, so that we can tackle Apraxia, and the Hypotonia is minor compared to the other two.  Maggie’s therapy includes Occupational Therapy (which covers Sensory and Motor Skills) Speech Therapy, and Physical Therapy (motor skills and strength) and the Vision Therapy program.

You may know, we flew to Boston to see a doctor about Vision Therapy.  We saw Dr. Kaplan, who wrote the book on Vision Therapy, literally.  He set us up on a program and prescribed prism glasses for Maggie.  We have been doing this therapy program along with our other therapies for 3 weeks and have seen good progress.    Side note:  Maggie’s visual sensory processing disorder, is neurological.  To best describe how Maggie sees is, her world is in a fish bowl.  How her mind perceives the world, looks like the world in a fish bowl, so you can imagine how that would affect her.  So the Vision therapy is telling her brain, that what it is processing isn’t right.  The glasses show her brain how to process correctly and hopefully after a year or so, her Visual sensory processing will be corrected.

Maggie’s regression:

In the past year Maggie started slowly regressing and then from June through September there was an avalanche of regression.

In short Maggie had regressed from playing, talking, etc to not playing or speaking and living in her own world.  Since we have started with our team of therapists, she has started progressing.  Every therapist seems to have a piece of the puzzle to Maggie.  Strangely enough, we started giving her a DHA vitamin and saw a huge jump in progress (started making eye contact again)  We started with a new OT who specializes in Rhythmic movement therapy and again we saw a jump  in progress.  Then we started with the Vision therapy and saw another jump in progress.  Maggie has started playing with toys again, and not hiding in her own world.  Most likely if you didn’t know our story, you would only think that Maggie needs speech therapy.  Words are hard for her to form, but she is a fighter and we know that they will happen.

We will most likely be doing therapy with her for the rest of her life.  Even if there is a cure, no one knows what that will look like.  Maggie’s Rett Syndrome is mild and she is high functioning.  So hopefully with a cure, she will be able to speak and keep her functions.

Only time will tell what progress will look like.  But I know, in my heart of hearts, that we will win this.

Everyone asks what they can do, all I can say is donate to find a cure.  A cure is a possibility but the funding is not there.  We are setting up a page to donate under Maggie’s name. The webpage is http://www.rettsyndrome.org/Magnoliashope .  Its not fully set up yet, but if you want to donate, feel free.  Please forward her page to family and friends.  We need the word out and a cure for Maggie and all these other beautiful girls that have been affected.

Percentages/ stats we have learned:

Rett Syndrome happens in 1 in every 10,000 girls.

Apraxia happens in around 5% of kids

Visual sensory is 80% of our sensory input

Love for a child is 1000%

Everyday is different for us.  Right now Maggie is progressing, so lets all celebrate that and not dwell on the regression.

Here is a blog post that we will have on the website.  I thought you might find it informative.

How to communicate with a child with Apraxia/Rett Syndrome

My daughter isn’t shy.

She doesn’t walk away because she dislikes you.  When you ask her to play and she doesn’t, it’s not you.  She has her agenda and your agenda, basically, is irrelevant.  She also needs to move or her body feels like there are snakes on it.  Let the girl move.

Her apraxia makes whatever you ask of her very hard for her to understand.  While she may know all the words, and likely does, processing what they all mean immediately is difficult.  It’s almost like she’s watching an overdubbed Japanese martial arts film.  She sees the mouths move, and a beat or two later she hears the words.

So, here are some tips on how to talk to her.

1.     Don’t talk about her in front of her.  She understands everything even if it seems like she doesn’t.  You wouldn’t like people talking about you right in front of you.  In fact, you don’t like it when they talk about you behind your back either.

2.     Wait and listen.  If you give her the time, she will surprise you with how much she can understand and do.  If you don’t, she will grow frustrated.

3.     Talk slowly.  The words that come out of your mouth are like a jig saw puzzle.  Given enough time she can organize them and see the whole picture. {UPDATE 3/9/14} Don’t talk slowly. Our understanding has changed. We talk to her like a typical kid of her age. She understands everything we say and is very smart. If you talk down to her or talk to her as if she doesn’t understand, she will likely ignore you.

4.     Don’t ask questions.  She may know the answer, but she gets confused by making the words.  Make statements and she’ll be glad to do whatever you want.

5.     Let her lead.  If she has a teapot, you’re having a tea party.  If you want to play with blocks, it’s too bad.  You’re not the toddler, she is.

6.     Find a single game and make that your game.  Every time you see her, play that game.  It may take weeks or months, but eventually, that game will make her laugh.  She’ll understand how it’s played and enjoy it when you do.

7.     Don’t feel sorry for her or us.  It’d be great for her to be typical, but all of the therapy she’s getting now will make her very strong.  Imagine if you started working out when you were 2 – you’d be way stronger than you are now.

8.  She may not be typical, but she is normal.  A cure is on the horizon.  So this is our new normal, with a cure we will find another new normal.  But for now, Maggie is who she is and we  will love and fight for her.

If you want more information on Rett Syndrome:

Rett syndrome is a unique postnatal neurological disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.

Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay

Rett syndrome 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.”

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Rett syndrome is a postnatal neurological disorder. It is not a degenerative disorder.

Rett syndrome 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.

Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.

Rett syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.

Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.

– See more at: http://www.rettsyndrome.org/understanding-rett-syndrome/about-rett-syndrome/what-is-rett-syndrome#sthash.A65QSUpL.dpuf

You can read more information on Rett Syndrome at http://www.rettsyndrome.org/

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