rett awareness

What would you ask for?

We have been told numerous times, “We are so close to a cure.We are so close to treatment for Rett.” We have had so much hope for a cure, but even a treatment, something to abate one of her symptoms would be transformative for her. Before Covid, there were multiple trials going on and more about to start. The excitement about the advancement was real and palpable. Then the world stopped. Everything halted. While the world coped with the Coronavirus, we had the added bonus of coping with the complexity and halting of trials for Rett Syndrome. 

While parents tried to cope with homeschooling their kids and what risks they might be willing to take, We coped with homeschooling, home therapy and worries about what Covid might do to immune compromised kiddo like Maggie. We faired pretty well, but then a few bad days would happen and our minds would wander into the “what if”. What if trials don’t start back up? When they do, what if it’s too late for Magnolia? 

My mind can spiral pretty easily when it comes to hoping for a treatment or cure and what it would look like for her. The reality is, I want it all but I would take just one thing, one symptom to be relieved. What would it be? I think at first thought most people would think I would ask for Maggie’s seizures to stop, for awhile this may have been true. With seizures though, they can be managed, its really about trial and error. A very scary trial and error but after 3 years of hospital stays, ER visits and immense stress, hers are finally in control. Next you would think I would want to relieve her breathing issues, for the past 4 years they have been a constant source of distress for her. Most days alternating between hyperventilating and breath holding until she turned blue and on some of her scariest days her lips would turn black while she seized and stopped breathing. Depending on the day, I would have asked for those symptoms of Rett to be relieved. 

As for Rett Syndrome the list goes on with symptoms that have severely impacted her life and well being. Over the years, I have always come back to one symptom. I would ask for hand function. Full hand function and capability. I know that seems odd, especially since Maggie is nonverbal. Why wouldn’t I ask for speech? Honestly, its a close second, but I’ve thought about this immensely. If I could give her one thing, it would definitely be hand function . Let me explain…

With hand function, she would be able to communicate. We would all be able to use sign language, or even an AAC touch device.

With hand function, she could play, truly play with toys, draw pictures, color, all of it.

With hand function, she would be able to fully participate in school., raise her hand.

With hand function, she would be able to open doors.

With hand function , she could truly choose her clothes and dress herself or undress herself.

With hand function, she would truly have choice and more independence.

With hand function, she could protect herself.

With hand function, she could have more privacy.

With hand function, she would have her dignity.

With hand function, she wouldn’t need to be watched, protected, or helped 24/7.

Thankfully trials are starting back up. I still have hope for a cure. Although, I’ll be happy with any relief from Rett Syndrome but hands down, I hope for hand function. No pun intended.

Everyday I am reminded my daughter is beautiful just as she is. Though I’d be lying if I I didn’t say, I long for the day that she holds my hand instead of me holding hers.