Rett Syndrome gets a boost from MSNBC!

The International Rett Syndrome Foundation (IRSF) is the recipient of an extremely gracious, generous and incredible donation…advertisement design and space for an entire day onwww.msnbc.com!

The MSNBC website generates 3 million visitors per day, and likely even more on Feb 24^th with coverage of the Vancouver Winter Olympics . It is estimated that 15% of those visitors will click on the IRSF advertisement, which will bring them to our website: www.rettsyndrome.org. This means there will be an additional 450,000 people learning about and donating to the cause we all hold so near and dear to our hearts—Rett syndrome!

On this day, IRSF’s website will be unveiling and promoting the newly established Research to Reality campaign which is out of the starting gate with an incredible $1 million Pioneer Fund Matching Grant award.

IRSF hopes this will be the largest online giving day in Rett syndrome history! And to think—it will all be doubled through the matching grant!

How can you help?

• Mark your calendar to visit www.msnbc.com on February 24^th

• Donate whatever amount you feel comfortable with to IRSF on this day

• If you have not done so already, join Facebook and become an IRSF Fan before February 24^th…this can be found atwww.facebook.com/rettsyndrome

• Visit the Research to Reality webpage found underwww.rettsyndrome.org > Get Involved to learn about this exciting and promising campaign

• Contact your local NBC affiliates to share this news, as well as your personal connection to Rett syndrome, especially if they have covered your event or story in the past (make sure to reference past coverage date(s), headline, and lead reporter)

• Encourage your friends, family members, co-workers, contacts and other Rett families to do all of the above as well—it is simple…

• Forward this email or write your own email including the wording above
• Add the following statement and attached logo to your email signature, blog, website and/or Facebook status page regularly between now and February 24^th: “Visit www.msnbc.com on February 24^th to show your support for Rett syndrome!”
• Make the Research to Reality logo your Facebook image for the day of February 24^th and post a reminder to visitwww.msnbc.com to your Status
• Pledge to learn something about Rett syndrome on February 24^thand spread the news in support of World Rare Disease Day on February 28^th

This is a very exciting opportunity for every one of us affiliated with the International Rett Syndrome Foundation—whether you are a parent, grandparent, relative or friend caring for someone diagnosed with Rett syndrome…or a researcher working feverishly to find the answers to solve the mystery of Rett syndrome…or simply just a caring individual who wants to help make a difference in the lives of so many…

Your help is their hope…they are waiting patiently…but now is the time to make a difference. We need YOU!

Please let me know if you have any questions—I am happy to answer them or help you make this day a success.

overwhelmed by entitlements

I just have not been able to write lately. I have sat down so many times to update my blog and everything wants to come out at once-- suddenly the pipelines are blocked. I think my synapses are fried. I had an interview with IHSS (In Home Support Services, part of MediCal, I think? Such a big agency I just have not taken the time yet to learn the system). Any way, they sent over this very lovely young social worker whose job it is to determine whether our family needs additional resources to care for our daughter at home. She began with a question that just froze me:

What is extraordinary about caring for a child like Emma who has Rett Syndrome? 

At first, I could not think of anything, but as she began asking more specific questions, it began to seem like everything. And so much is invisible. I am not complaining here but as I have gone through my days since then, I have noticed how much of my conscious time is committed to monitoring my girl. ANd monitoring those who monitor me, monitoring her. My new thought is this. There are several ways one could find out that do not involve full time case management. Given her genetic test and diagnosis, you could look it up. Or, the best way to get a sense of what Emma needs help with is this experiment: tape your mouth shut, then tape your thumbs together. Now go through your day. For as long as you can. When you want to bang your head and scream, you can stop the experiment. Then remember: she can't. Nor can we. 

Here is what I have figured out: for school, we have to answer yes to as much as we can, otherwise they will consider her mentally retarded and treat her as untrainable. For MediCal and Regional Center, we have to answer no to everything otherwise they will consider her highly functioning and reduce as much support as they can. And everything we say is true.

Here is my current worry list, maybe just to download it will clear my mental agenda: 

• Emma needs: a new chair, new leg braces, a lift for the van. That means a huge logistical nightmare with Kaiser, MediCAL and Regional Center. If you read my post about the potty chair, you might understand why this drives me literally to tears. 
  
• We are traveling by plane this summer to the farm to see family, and I have to arrange wheel chair, changing planes, and getting liquid food supplements through TSA before we go. That is end of June, so I am late getting started. 
  
• Emma's trazadone is not working so well, and we need to switch meds. This requires a neurology appointment and careful coordination so we are not switching mid trip (above) should I start now or wait. She is waking up every day at 4AM- I wish we could start now...
• She needs new clothes. This is a major ordeal. I need to plan a weekend day when I can have a babysitter for her sisters so her dad and I can go with her to the mall-- it takes two now. 
• I need a lift for the van. 80 lbs is past my limit.'
• We need to go to the mobility dealer and see what our options are. Crap- our van has like 120,000 miles on it. Do we need a new van too? How are we going to do all this. 
• we have an appointment for the new chair fitting on May fifth. I have to put in for a day off. Husband too. Oh my gosh, will we have a new chair for the trip? AUGH- we have to rent a full size van -- oh, it won't have a lift. I wonder if she will fit her carseat still. 
• we need a new ramp in the back yard, it is too steep and she just fell down it. 
• she needs a ramp and deck around her make a wish tub.. we can't lift her in anymore. 

So it is the little things, feeding, changing, reading, playing, hanging out, watching for seizures, etc. But also the big things. 

And frankly, who has time to answer ten pages of questions about what she can and can't do? From three different case managers at three different agencies. AND-- her doctors and teachers also have to respond to the same inquisition. 

We are so afraid of fraud that we are spending more on fraud prevention than on people with disabilities, I fear. 

Requesting an AAC assessment

This is the stance that earned me the title militant mom: Communications with schools are court admissible evidence and IEPs are legal contracts. 

 I learned from experience that a potential audience for every communication with our school district is the Office of Procedural Safeguards at the California Department of Education. So while I do try to keep the letters civil and polite (why not?) I also make sure they let the district know I know my child's rights, and they have all the i's dotted and t's crossed.  Not that I want to go to court or file complaints, everyone loses when we do. But when the district knows that we know we can, and will, they are more likely to serve and we are far less likely to go. 

The squeaky wheel gets grease, and my district trained me to squeak. 

Below is a template I wrote, based on our letter requesting assessment for a couple of local families who find their child in the position ours was two years ago-- in a district that made conflicting claims: this child was not an AAC candidate, and the district is happy to keep experimenting with PECS and sign. 

An AAC user fits this profile: receptive language higher than expressive langauge + intent to communicate. News flash: non-verbal children who use PECS are AAC users. These children have a right to assistive technology under IDEA.

That is just about all kids with autism. They should be assessed by a qualified provider. 

Districts are not so excited about this. Why? PECs and sign are practically free (especially compared to dynamic speech devices) and about the only thing most speech therapists know and are trained in (getting a device and a full AAC system requires an AAC specialist, another expensive service). 

 We need to build knowledge of and demand for these services. They make all the difference. Our daughter went from her preschool goals and curriculum to second grade curriculum in a few months, once she had a device and support to use it. Here is the template:

____________________________________

[Your address here]

District Contact (principal, program specialist, etc)
District address

RE: REQUEST FOR ASSESSMENT
Child’s full name
Date of birth
School of attendance and grade level

DATE

Dear [insert district contact name here]

Under the Disabilities in Education Act of 2004, my child has a right to devices and services which allow her to access the educational curriculum in the Least Restrictive Environment (20 U.S.C. §1401(a)(25,26); 34 C.F.R. §300.308) (34 C.F.R. §300.308). This includes Augmentative and Alternative Communication (AAC) devices and services.

Our daughter has a diagnosis of Rett Syndrome, which causes severe apraxia. She therefore has effectively no use of her hands and is non-verbal. The prognosis is that she will not recover speech or hand functions with therapies.

Because our daughter uses {insert examples of her communication here, such as , proxemics/going to the thing she wants, sign, picture ions, gestures/pointing, reaching; utterances) to communicate we know that she has higher receptive than expressive language. She is by definition an AAC (American Speech Langauge-Hearing Association).

Because of her prognosis and the difference between her receptive and expressive abilities, her current systems limit access to her range of language and vocabulary. Further, her current systems require her to access communication with her hands, which is inappropriate to her diagnosis. Her current AAC systems are therefore inappropriate for her educational needs and inaccessible due to her diagnosis.

We request a medically based AAC assessment from a qualified outside provider.

We understand that you will send us an assessment plan that describes who will provide the assessment and how it will be completed. We also are aware that you have sixty days to complete the assessment and look forward to hearing from you soon.

Sincerely,




The parents of (insert your child’s full name here)

I was going to post just once a day but this was far to exciting to pass by. The title is "Drug Trials in Autism."

http://www.technologyreview.com/biomedicine/21748/

Could it be possible that we really are on the brink of a reversal? To hope...

genetic basis of autistic behavior?

I have often wondered about much of the psychological interpretations and therapies suggested for my daughter's autistic type behaviors. Though they are more politely couched, they are not far removed from the refrigerator mother theories-- that autism was a psychiatric disorder caused by the mother's rejection of the baby during pregnancy. Reading an article today about the behavioral impacts of mutations on the MecP2 gene made me more curious than ever. (Science Daily Sept. 26, 2008. Mapping the Nueron-behavior Link in Rett Syndrome.)