Claire Wiegand's Story: 2019 - 2020


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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] [2017] [2018] [2019]

Many things changed this year. The biggest news is that Claire was finally given a correct diagnosis!

Claire received an official Rett Syndrome diagnosis two years ago at the age of 28, but then genetic testing didn't turn up a mutation. No problem, they said - 15% of Rett Syndrome patients don't have a mutation identified yet. But it just didn't feel like closure. After hearing from another Rett Syndrome parent that her daughter was correctly re-diagnosed following an Autism/Intellectual Disability genetic panel, we decided to have Claire tested as well. We paid for the $600 test ourselves and it was worth every penny when the result came back that Claire did not have Rett Syndrome, but instead had Phelan-McDermid Syndrome, characterized by a deletion of chromosome 22q13.

Phelan-McDermid Syndrome shares so many symptoms with Rett Syndrome: lack of speech, developmental delays, autistic behaviors, and severe neurological impairment. But the really exciting thing is how many smaller symptoms of this new syndrome describe Claire exactly: hypotonia, reflux, puffy eyelids, full cheeks, high tolerance for pain, sacral dimple, feeding and sleeping problems, and lack of sweating. We have been welcomed into the Phelan-McDermid community and feel like have found our home.

More great news is that Claire started a new medication in August 2019 which increased her appetite, and over the course of a year, she slowly gained weight, finally reaching her ideal weight of 115 pounds after six months, then our goal weight of 120 pounds after a year. We want her to have about five extra pounds on her in case of illness.

Of course, the biggest change this year was the COVID-19 pandemic. Claire's day program closed on March 16, the same day that we had decided to withdraw her from the program. She adjusted to being home full-time very well. With both of her dads working from home and her mom retired, we worked out a schedule for her to spend half the week at each home.

Even when Claire won't eat much of anything else, she will always eat La Hacienda's chips. (August 2019)
We took Claire to My Way Matinee's showing of "Angry Birds 2." There wasn't a poster of it to pose her with, so here we are in the theater waiting for it to start. (August 2019)
We picked up lots of extra clothes for the grandkids at a daycare's annual yard sale/fundraiser, plus we got a variety of new toys for Claire. (September 2019)
Claire always enjoys a stop at the park on her way home from her day program. (September 2019)
We took Claire to My Way Matinee to see "Abominable," and all three of us disliked it so much that we left halfway through. (September 2019)
We took Claire on an overnight trip to Cleveland. First, we visited Preston's H.O.P.E., an inclusive playground designed for people of all abilities to play together. (September 2019)
The next morning, Claire had a Tobii Dynavox evaluation session, which is the reason we had come to Cleveland. (September 2019)
Here's the Tobii Dynavox, an eye-gaze communication system for non-verbal communicators. (September 2019)
We stopped in Dayton on the way home to see Tom's mom, Margaret. Read all about the trip here. (September 2019)
We bought a used Tobii Dynavox and tried it out with Claire. She seemed interested at first but we really didn't have much success with it. (October 2019)
Claire went on a field trip to Stuckey Farm with her day program. (October 2019)
Her caregivers got some cute pictures of her. (October 2019)
Here's our sweet girl. (October 2019)
She obviously had a great time. (October 2019)
Claire joined us on a trip to IKEA and shared a little of our dinner in the IKEA cafeteria. (October 2019)
For her fifth birthday, Claire's niece had a princess-themed birthday party. All guests were asked to dress up, so we did. (October 2019)
Look how pretty Claire is in her princess dress and tiara. (October 2019)
On Halloween, Claire wore her princess dress to her day program. (October 2019)
Sometimes, Claire is in a cuddly mood when she first wakes up. (November 2019)
We took Claire to Regal Cinema for a regular viewing of Frozen II. It was her second viewing, having gone to My Way Matinee with her father while we were on vacation two weeks earlier. (December 2019).
Claire was a patient girl at the doctor's office. She's done very well this year on some new medications and her weight is now firmly where it should be. This day, our visit was just to get her guardianship form signed, as we have to do every two years right in the middle of the holiday season. (December 2019).
Claire liked the new toys she received for Christmas. (December 2019).
We learned from another parent of an adult with Rett Syndrome that she had gotten her daughter rediagnosed correctly after getting a genetic screen for 100 different disorders that include autism and intellectual disability as symptoms, so Debbie took Claire to her family doctor to get the test ordered.(February 2020)
Here's Claire all bundled up for a road trip to her sister's house. (February 2020)
Claire enjoyed some time in our swim spa shortly before we drained it for the season. (April 2020)
On April 7, our world was changed forever when Claire was correctly re-diagnosed as having Phelan-McDermid Syndrome after years of being misdiagnosed as having Rett Syndrome, despite not having the correct genetic mutation. A much wider genetic screen discovered the deletions on gene 22q13. We were thrilled to finally have a concrete answer. (April 2020)
While we had to drive to Arizona to handle some family business, Claire's dad was taking good care of her. He sent this picture of Claire enjoying a sunny spring weekend. (April 2020)
In May, it was Claire's turn for a COVID haircut. Her hair grows quickly and about once a year, it gets a drastic cut. (May 2020)
Mom's haircut skills are a little rusty so she ended up taking a little too much length off for Claire's hair to still fit in a ponytail, but it turned out cute anyway. (May 2020)
Our new Phelan-McDermid parent friend, Andy, sent us a video player system for Claire to try, activated by a simple keyfob. It didn't take her long to figure out that she needed to click the button to move the player from one video to the next, stopping every time on "Under the Sea," her favorite Disney video ever. (June 2020)
With the pandemic going on, our city decided to cancel its huge Fourth of July event downtown and host three displays of fireworks around town instead of one central one. We were lucky to be just a couple of blocks from the display nearest us, so we set up our folding chairs on the sidewalk. (July 2020)
Our view was fantastic and Claire seemed to enjoy the show. (July 2020)
Claire got a new Leapfrog toy for her birthday. She was overjoyed with it and shook with excitement when she pulled it out of the gift bag. (July 2020)
We had also made some updates to the video player system our friend Andy sent her. Tom adjusted the software to make it have adjustable delays and to ignore additional clicks, and Debbie created lots of playable files from her favorite videos. Claire quickly remembered how to activate the system but made it clear that she wanted her new birthday toy back. (July 2020)
We also bought Claire an egg swing chair. Tom assembled it for her and she tried it out. She was unimpressed but she didn't immediately try to get out, so we'll call that a success. (July 2020)

2020 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 is updated once per year, usually in late July.


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] [2017] [2018] [2019]

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