Being Unique…

Most people, I’m sure, have been in situations where they don’t quite feel like they fit in. But how do you deal with not fitting in anywhere? When even the specialists are baffled, like an archaeologist who just found evidence of a prehistoric, pink and purple, polka-dotted flying frog?

It’s often hard to remember that others also have experiences like this. But once in a while we see reminders, like a recent article at themighty.com:

“When You Feel Like a Wallflower in a Special Needs Community”

And, in response, here’s our view.

Melora has joint contractures (#arthrogryposis), but they’re pretty mild and she’s been labeled “functional”. So she doesn’t really fit in with the others with arthrogryposis who have fifteen surgeries in their first year of life, but can speak and do most things everyone else does.

She doesn’t talk, even a little, no consonant sounds at all. But she doesn’t really fit in with the “nonverbal” crowd who find other ways of communicating and can run and play with the other kids.

She doesn’t really fit in with the other intellectually disabled kids who still make eye contact and smile for the camera.

She doesn’t really fit in with the kids who have cerebral palsy; she doesn’t have involuntary movement or spasms and, again, can’t speak at all.

We’ve found syndromes similar to hers (Rett Syndrome, Angelman Syndrome, Mosaic Down Syndrome), but they’re slightly different so we can’t just walk in to a support group and say “Hey, we belong here”. We’re just out-of-sync enough to be one tiny step to the side of everyone else’s reality.

So, how does a family deal with being so very unique? We try every day to remember that Melora is our sweet, unique little bundle of living proof that we’re all the different but the still same. ALL PEOPLE must always remember that our differences don’t have to separate us; they can teach us and help us be more compassionate.

Hugs, and thank you for reading.

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Hello world!

Melora was born in 2011. She spent two weeks in the NICU because she had a lot of trouble feeding and her ability to breathe on her own was questionable. She was evaluated by an orthopedic surgeon and a geneticist for “multiple dysmorphic features”; she has mild joint contractures in her hands and feet (distal arthrogryposis) and limited flexibility in her knees and hips. After she came home, we started early intervention services. She’s been in occupational, speech, and physical therapies since she was 4 months old. Melora has always had a lot of muscle weakness (hypotonia), causing delays in her physical development. Her small muscles are also affected, causing eye-muscle weakness (for which she wears glasses) and feeding difficulties (we have to choose her foods carefully so she doesn’t choke on them). Her level of intellectual disability is hard to determine due to apraxia of speech (she can’t talk).

We’ve been seeing her geneticist since she was born, trying to find the cause of her difficulties and differences. After previous testing failed to provide answers, we got a whole exome sequencing and found (after almost four years) that Melora has a mutation in the gene “ZC4H2” (XQ11.1). Mutations in this gene are the cause of Wieacker-Wolff Syndrome (aka Wieacker Syndrome or WWS). Simply put, ZC4H2 helps with nervous system development and the creation of neurolomuscular connections. In other words, Melora’s brain has trouble telling her body what to do. And her joint contractures were caused by minimal prenatal movement (she got stuck because she couldn’t move).

While Melora’s specific mutation hasn’t been seen before, WWS is itself almost as rare. With “fewer than 30 affected individuals” (Orpha.net), it would be impossible for us to come up with a prognosis. Her future is very uncertain. Her neurologist says she will likely start having seizures at some point, but there’s no way to know how soon. We don’t know whether she’ll get better or worse since we currently have no others to compare her to. We hope, with this page, to find others like her and raise awareness for rare disease in general. And maybe if treatments or a cure are found for another rare disease, it could possibly help Melora.

Websites that have helpful information:

http://www.malacards.org/card/wieacker_wolf_syndrome

http://www.ncbi.nlm.nih.gov/pubmed/23623388

http://rarediseases.info.nih.gov/gard/7890/wieacker-syndrome/resources/9
https://rarediseases.org/rare-diseases/wieacker-syndrome/

This article is one of two studies that we’ve found online:
http://www.sciencedirect.com/science/article/pii/S0002929713001298