Saturday, May 17, 2014

CD release party

Earlier this week, I got an email from the mother of a darling girl in Leah's class. She wondered if she could have two additional Team Leah Bean iron ons for a local Rett syndrome fundraiser she was going to be working at the coming weekend. 

Um, yes. 

And also...a Rett syndrome fund raiser that I don't know about? Do tell! 

I sent the iron ons to school with Leah the following day and asked her a few more questions. It turns out one of her professors was the wife of a musician named David G. Smith who was having a CD release party that weekend. David and his wife are good friends with a family in the area who have a daughter, Ariel, who has Rett syndrome. So, David decided to turn his entire release party into a fundraiser for the IRSF...just because. 

What are the chances? And how amazing that this wonderful mom would have a connection to Rett syndrome and want to spread awareness by wearing a TLB shirt! 

I did a little more research into the CD release party and learned that it was open to the public, so Ryan and I decided to make a date night out of it. 

It was a wonderful celebration with great energy, music and people. We were fortunate to meet Ariel, who is in her early 20s, and her family. We chatted with her mom, Mary Lou for quite awhile. Mary Lou was completely flabbergasted to learn of a new family in the area. There was also a local grandmother of a Rett girl who lives in Texas who attended and it was so great to meet and talk with her. 

All in all, a great night making new connections and meeting more wonderful people in Rettland

Following is a letter written by Mary Lou, Ariel's mom, on the David G. Smith website:


Rett Release; Help Force Rett Syndrome to Release its Devastating Grip

“Ariel” isn’t just the title of the tenth song on D G Smith’s One House CD. In true D G Smith style, there’s a real person with a real life story behind this poignant song. Ariel is my daughter, and her real life story is Rett Syndrome. 
Rett Syndrome is cruel and unrelenting. The first 6 to 18 months, it is fairly silent. Unaware of its presence, we believe our beautiful babies are perfectly healthy. Then it gradually begins to expose itself, by slowing and halting developmental milestones. Ariel’s sweet little voice saying, “Mama, Dada, Byebye…,” fell completely silent, never to be heard again. Fears grew as more unsettling clues began to surface.  Frantic and powerless we witnessed the grip of RETT tighten as it worsened into regression. Purposeful hand use, which allowed her tiny fingers to grasp Cheerios, and deftly turn single pages in books, was cruelly replaced with highly useless and frustrating repetitive hand-wringing. We witnessed a heart-wrenching stage with no eye contact, and inconsolable crying. As the nightmare continued to take it’s toll piece by piece, we continued to search frantically to find an explanation as to why we were losing her to this foreign realm. Powerless to halt the unknown, we would eventually learn we were to remain powerless even in the answer. The problem was a diagnosis of Rett Syndrome, the solution does not yet exist, and the reality is pain and shattered dreams.
Rett is caused by mutations in the MECP2 gene, which produces a multi-functional protein that regulates the activity of a host of other genes crucial to normal development. In most cases, the damaged copy of MECP2 can be traced to the paternal form of the gene, the result of a random sperm mutation. With rare exceptions, Rett Syndrome is sporadic, rather than an inherited disorder. In fact, the incidence of recurrence in a family is less than 1%.
Rett causes many health problems in addition to the obstacles and restrictions to daily living:
EEG abnormalities, seizures, and disruption of normal sleep patterns are commonplace
Twisting of her spine is caused by scoliosis. Other orthopedic issues exist, including fragile bones
Teeth grinding, decreased body fat & muscle mass, muscle rigidity & spasticity, & parkinsonian tremors
Reflux, constipation, lactose intolerance, drooling, difficulty chewing, swallowing are her GI issues
Extremely poor balance, unsteady gait, inability to solely maneuver uneven terrain, stairs or seating
Lacks any ability to catch herself when falling. Or defend herself from a stinging insect, a flame, an aggressor…
Episodes of breathing dysfunction in the form of apnea, hyperventilation, air swallowing, and breath-holding
An impaired cardiac and circulatory system can have deadly consequences. Lower extremities often cold, and purple
Speech, and thus the ability to communicate even basic needs exists only if you can read her sparkling eyes.
Every task of daily living must be done for her since purposeful hand use is non-existent. The things we take for granted-
-She cannot feed herself, hold a drink, brush her teeth or hair, toilet or bathe herself, get into bed, cover or clothe herself.
-She cannot put on a CD, turn on the radio, read a book, change the channel, or text her peeps
-She cannot scratch an itch, or tell us what she thinks is so funny.
-She cannot tell us, when she is crying, if she is sad or in pain, why she is sad, or where it hurts.
-She cannot tell us if she’s hungry or thirsty, or what she’s hungry or thirsty for.
Ariel requires total care 24/7/365/…for life. Even though Ariel’s sparkling eyes can speak volumes, we are often left to guess and assume much on her behalf. Her personality, her dreams, her voice, and every freedom, was taken from her long ago. For her patience alone, Ariel is truly an angel.  
At present, she is one of 35 known cases in Iowa. Rett occurs worldwide in 1 of every 10,000 to 23,000 female births and strikes all ethnicities. Incidence in males is rare as the culprit gene, MECP2, is on the X chromosome. First recognized in 1982, the prevalence of Rett equals that of Cystic Fibrosis, Huntingtons and ALS but is vastly underfunded in comparison.
Why is Rett Syndrome research so important? Recent exciting breakthroughs toward possible treatment, and even a cure, allow us greater hope for Ariel and every beautiful soul struggling to live with Rett. But the expanded picture is the relevance Rett research has in curing other disorders. Because Rett is the most physically disabling of the autism spectrum disorders, it is said to be the "Rosetta Stone" that may help unlock cures for disorders with genetic links, including autism, schizophrenia, Parkinson's, and other autonomic nervous system disorders. (Check out Dave’s song Doesn’t Take Much Light) 
If you are interested in learning more talk to me, or check out the many Internet sites on Rett Syndrome. You might start with the following:  or
And if you like nice people who don’t just talk the talk, (or sing the song in this case) but also walk the walk toward the vision of the world as ONE HOUSE, support Dave’s music. He possesses a sweet and gentle soul, and generously shares his positive energy and talent to make good things happen. Do it!    -Mary Lou

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