Sometimes when we explain the rarity of E’s diagnoses, we often hear the joke, “You should play the lottery!” It’s always well meaning, and we are never offended by it, because it’s true!
There are only 1,300 cases worldwide: that is roughly 1 in 6,080,883 births. To put that in perspective: the likelihood of a baby being born with Down Syndrome is 1 in 691. I found that out a couple of weeks ago, and keep rolling that over and over in my mind… Lucky us.
Disclaimer to that: The experts believe that Phelan-McDermid is SORELY under diagnosed. But as the technology in the genetics field advances, the diagnoses of P-MS (don’t even get me started on that acronym…) are increasing.
I originally had written here about the genetics behind P-MS, but decided that their website does a much better job than I can do explaining it, and giving a pretty good brief overview. Check it out: (What is Phelan-McDermid Syndrome?) However, if you’re feeling committed to learning more, this is the exact packet we were given on the day of her diagnosis: (For The Serious Reader 😉 ) It was (and is) so so so overwhelming but filled with a ton of necessary knowledge. I printed it and keep it in a binder for reference.
The most incredible, yet simultaneously difficult part of this diagnosis is how DIFFERENT each person with P-MS is. There are some similarities in symptoms: severely delayed to absent speech, moderate to profound intellectual disability, and hypotonia (low muscle tone). But even amongst the similarities is a full spectrum for each symptom. Some can communicate with a few spoken words, some do not respond/express any sort of communication. Some followed their physical developmental milestones with ease, some are unable to walk into adulthood. Each symptom is this way: there is no one alike.
Trust me, we search for a child that is the perfect match to E. There is an extremely beneficial (yet heart-wrenching) Facebook group, where parents share stories and seek out support. We pore over posts, jump into conversations that sound similar to our experiences, and replay videos that remind of us E. Yet, the search is nearly fruitless each time. Nearly. But we do connect with parents who truly understand, who are living the future we are facing. We see the hard days, the terribly difficult days that Ben and I weep over when we read about them. We also see the hope that they still hold and the joy they get from their children, from a sandwich made themselves, a part in a school play, and first steps.
We can’t help but laugh when we think about just how rare E is. Like, seriously. Not one, but 2 genetic syndromes, one so rare it doesn’t have a name and the other is 1 in 6 million! Yet over and over again, we know that it wasn’t luck that gave her to us (though I am pondering playing the next big powerball)… it was the Lord. He entrusted her to us. His girl, his rare, beautiful, darling girl that He knitted together in my womb. The one whose name He knew before time began. He gave her to us to take care of her. Us. Two kids who don’t know how to clean a lint filter most days. To push her to be better, and wait on hold for hours in order to talk about insurance. To give her kisses and cuddles and to make her smile. To order walkers, do therapy stretches, work long evening hours and put a teaching career on hold in order to do all that we can do for her. To be her voice, even when we have trouble finding our own. What a privilege, an honor (albeit heavy) to be her Mama and Papa.
We may not exactly be Phelan Lucky, but we know that we should be Phelan #Blessed.
A final disclaimer: The Phelan Lucky campaign is AWESOME. Here is a video about it: (Phelan Lucky! ) I am in no way saying that I don’t support Phelan Lucky, the parents have worked SO HARD on the campaign and it is gaining speed and notoriety for Phelan-McDermid. This is just my spin on the phrase, not the organization itself! 🙂