Day Nineteen

Written March, 2017…

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Happy Spring!
People with Phelan McDermid have difficulty with gross motor from one moment to the next. One minute Ada’s body might be able to sprint and the next it is not able to stand or sit up. SHANK 3 is the compromised gene effected to have the diagnosis of PMS. Ada is missing the base of hers.
Some people with PMS are missing their entire SHANK 3 gene. Some people are missing their entire SHANK 3 and other genes within the 22nd chromosome. And to say that if you are missing just part so that means you have a “mild case” sounds rational BUT completely not the case. SHANK 3 is responsible for many aspects of functionality including speech, motor functioning and it also makes a protein that feeds brain synapsis. Because Ada’s body does not produce as much of this protein she exhausts easily since she’s working her butt off for so many functions that we take for granted that our body’s just do.
We also know that this effects Ada so that if someone is crying or if she hears a sound that makes her laugh we need to be extra careful cause she literally melts:) When she gets overwhelmed with emotion, her gross motor goes out the window and she wants to sprint around and jump jump jump like a bunny but she also flops her entire body back with no understanding of safety awareness. Needless to say its ALWAYS exciting and I’m convinced PMS parents turn into stealth ninjas!
PMS is also an umbrella diagnosis; as it is often the root cause of MANY other diagnoses such as: autism symptoms, hypotonia, CVI, pica, intellectual disabilities, g.i. complications, poor sleep, OCD tendencies, and epilepsie.  Living with just ONE of those diagnoies is challenging, so needless to say, PMS is a DAUNTING reality.
We must be very careful knowing the way Ada’s brain and body work and do not work since so many therapies are behavior based. IF Ada is able to do something one minute and the next minute she can’t it is not because she’s being “lazy” or “bad” or not a good listener or direction follower. IF Ada is with someone who works from a very behavioral standpoint Ada then gets very anxious and sad. Which really who wouldn’t if you are being pushed beyond what is appropriate?! This also is why repetition is so vital to Ada…to make up for the times the synapsis just don’t work.
People with PMS are amazing examples of patience, courage, determination and overall badassery:)
#benotdo #connectedness #PMSF #PMSFAus #PMSFUK #leanonme
#PhelanLucky #OneIn5Million #WorldofMae #ThisIsUs #ThisIsPMS#sisterhood #PhelanMcDermidSyndrome #fairystrong #RideTheWave#KapowGrashow #protector #LeanOnMe #tortoiseandhare

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