Claire Wiegand's Story: 2017 - 2018


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Claire's Story: [1989] [1990] [1991] [1992] [1993] [1994] [1995] [1996] [1997] [1998] [1999] [2000] [2001] [2002] [2003] [2004] [2005] [2006] [2007] [2008] [2009] [2010] [2011] [2012] [2013] [2014] [2015] [2016]

For 28 years, I've tried to find a diagnosis for my beautiful baby girl. For the first four years of her life, it was failure to thrive, then Sensory Integration Dysfunction, then cerebral palsy, and finally probable atypical Rett Syndrome. I tried again when she was nine, and once again, the answer was "it's probably atypical Rett Syndrome because we can't find anything else that it might be." We had her genetically tested at age 11 when the gene for Rett Syndrome was discovered, but no mutation was found. That still didn't rule out Rett Syndrome. So we let it be, knowing that a diagnosis didn't change her prognosis or how we cared for her.

Now, seventeen years have gone by. In that time, dozens more genetic mutations have been identified. Other syndromes that are similar have been identified. The criteria for Rett Syndrome have changed. I retired from my position as EVP of a software development firm in July 2017, it was time to try again. I made an appointment to visit the Rett Syndrome Clinic at Cincinnati Children's Hospital. I gathered, sorted, scanned, and transcribed all of her school, therapy, and medical records. It took me two weeks to organize the records because I had to stop and cry pretty regularly. It was awful reliving those pain-filled years of seeing skills gained and then lost, bringing her to endless appointments and tests looking for answers, and finally realizing that her disability was profound and permanent.

In April, her dad and I drove to Cincinnati and spent the day meeting with a variety of physicians and clinicians, including the head of the Rett Clinic program. Finally, we heard the sweet words we've waited nearly three decades to hear: "She has Classic Rett Syndrome." It's not atypical. It's not probable. It's an official diagnosis and it means that Claire can now participate in clinical trials and studies, and more importantly, we aren't just a family on the outskirts of the Rett Syndrome community. We are finally full members.

At the Rett Clinic, blood was drawn to do genetic testing to see if she has a specific mutation. No mutation was found, but the diagnosis remains. Currently, approximately 5% of patients with the clinical diagnosis do not have a mutation. So, there are still questions to be answered some day, but for now, we are thrilled to have an official diagnosis.

Also this year, Claire continued to attend the same day program that she started in early 2017. She maintained her weight fairly well, although it is still an effort on our part to get calories in her. At the age of 28 years old, she got her very first gray hairs in her gorgeous brown hair.

When Debbie retired from Orchard Software, Tom and Claire were invited to attend her retirement party, so they had a front row seat when Debbie's colleagues took a moment to say a few words of farewell. (July 2017)
Debbie and Claire dropped by a park on the way home from daycare and had it all to themselves for a little while. (October 2017)
We used one of Debbie's retirement gift cards at Graeter's Ice Cream and Claire had a few bites of ice cream, which is rare for her. (October 2017)
There was a special letter for Claire in a Christmas card from a friend's daughter, complete with a drawing and stickers, so we taped it to her bathroom mirror so she can see it when she's in there. (December 2017)
We sent in a photo of our sweet Claire to Rettsyndrome.org to include in their Valentine's Day slideshow. (February 2018)
Thanks to eBay, Claire got a replacement of one of her very favorite toys, along with a couple others that are the same style. She's thrilled to have her old favorite back and working. (March 2018)
Our sweet Claire is 28 years old and is just starting to get her first gray hairs in her beautiful brown hair. (March 2018)
Sometimes, when we babysit our grandkids, we load up the tots in our garden wagon and Claire in her wheelchair and go for walks in the neighborhood. (April 2018)
Claire, her dad Greg, and Debbie drove to Cincinnati in April to take Claire to the Rett Clinic at Cincinnati Children's Hospital. (April 2018)
After checking in, we stayed in one exam room all morning while different Rett Clinic specialists came in to meet Claire and discuss her care with us. (April 2018)
The neurologist, Dr. Standridge (right), diagnosed Claire with classic Rett Syndrome. Doctors had suspected Rett Syndrome since she was two years old, but she didn't meet all of the clinical criteria. However, the criteria changed in the last decade and now her symptoms fit. We were thrilled to finally have a definitive answer. (April 2018)
After a full morning of Rett Clinic and a stop to get some blood drawn, we got lunch in the hospital cafeteria. Claire especially enjoyed the tater tots. (April 2018)
After lunch, we had several other stops to make in the hospital, including hip and spine x-rays, ...
... and an EKG. Claire was very patient through all of it. (April 2018)
We took Claire outside to play in the water for a little while. She prefers being indoors but enjoyed getting splashed by water. (May 2018)
Claire's day program got an outdoor swing and Claire loves it. Sometimes, she sneaks in a minute or two of swing time when she gets dropped off in the morning. (June 2018)
We took Claire to the My Way Matinee showing of Incredibles II at Regal Cinema.
When she isn't holding a toy, her hands naturally move into the classic Rett Syndrome hand-wringing position, ...
... but she also likes to hold Mom and Tom's hands as well during the film. (June 2018)
On the Fourth of July, we got a rare family photo of us with our daughters and grandchildren. (July 2018)
Happy 29th birthday, Claire! We took here to My Way Matinee at Regal Theater to see "Hotel Transylvania 3: Summer Vacation." She seemed to enjoy it. (July 2018)
In honor of her finally getting an official diagnosis this year, one of her birthday gifts was this adorable "I'm 1 in 10,000" Rett Syndrome t-shirt. (July 2018)
She also got some musical cards, a Trolls DVD, a musical toy, and McDonald's French fries. (July 2018)
   

2018 and beyond

Check Claire's page for more photos, and click here to see photos from the times she participated in Special Olympics when she was younger.


Claire's Story: [1989] [1990] [1991] [1992] [1993] [1994] [1995] [1996] [1997] [1998] [1999] [2000] [2001] [2002] [2003] [2004] [2005] [2006] [2007] [2008] [2009] [2010] [2011] [2012] [2013] [2014] [2015] [2016]

Rett Syndrome: [Main] [Contact Us] [RS Site Index] [Calorie Boosters] [Claire's Story] [Cookbook] [Letter] [Tips]

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