By: Scotti Taylor, mom of Drew, 22  

Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families.

About a year ago, after I posted a few photo and video updates of Drew in one of my Special Needs Moms forums, I got a DM. “Hi… I don’t want to offend you, but I think your daughter has some of the same issues as my son, and he has a rare genetic disorder that is fairly new and is not widely known about – Smith-Magenis Syndrome.” Someone from across the country, another mom trying to survive just like me, took five minutes out of her day to watch my videos and reach out to me.

And on the days I doubt, I remember this, and I trust that God is still there.

I wrote back, “not offended at all! I’ll look into it, and googled “Smith-Magenis Syndrome” immediately. I started crying. What I was reading—every characteristic, every behavior, every attribute, every strength, every weakness—it was Drew. All of it. I knew without a doubt in my heart that Drew had this rare genetic condition.

And on the days I doubt, I remember this, and I trust that God is still there.

In the 10 minutes after that, I called my dear friend Vonnie who’s been a mentor to me for many years. Vonnie is a mom to a medically fragile child and grandchild, and she’s taken a beating in this life and keeps on trucking. Her response: “Scotti, don’t you remember my cousin Sonja that I told you about that has a disorder that caused aggression when we were kids? She has Smith-Magenis Syndrome! And her mom, Gail? She runs one of the six Smith-Magenis clinics in the country! Here in San Diego!”

And on the days I doubt, I remember this, and I trust that God is still there.

This last year was filled with uncertainty as we went through the arduous process of getting the expensive “gold standard” of genetic testing approved by insurance, attended mandatory genetic counseling (as it was possible we would find out that a genetic abnormality was carried by either Jeff or I), did blood draws, ran Drew through the gauntlet of exams, prayed, and waited. Several weeks ago, on a Friday afternoon, I got the call. Drew has a genetic mutation of the RAI1 chromosome, confirming Smith-Magenis Syndrome. De Novo, which means not carried on either side. At conception.

And on the days I doubt, I remember this, and I trust that God is still there.

What does this mean? It means that there are more families throughout the WORLD just like us, when I thought for all this time that we were the only ones. It means that Drew will finally be able to see herself in another human being. It means there’s teams of doctors championing our cause and educating the medical community about this fairly new (1986) genetic discovery. It means the Smith-Magenis conference every other year for us, where we can connect and learn about new technology, medications, therapies, and research. It means that when I die, there are other people on this earth that know every minute idiosyncratic detail of Drew, and that she will be understood and cared for well. Most of all, it means FAMILY. 

And on the days I doubt, I remember this, and I trust that God is still there.

I am a bulldog. I’m a fighter, I’ll never take no for an answer. I have a propensity for ram-rodding through walls… but this has nothing to do with me or tenacity. This was a perfect gift, wrapped up in a bow and laid in my lap. Perhaps a gift from God in return for my tenacity. Yes, that is how I choose to think of it. My gift for keeping-on-keeping-on.

For 21 years, I thought we were the only ones living in the grips of symptoms trying to tear us apart. Since Drew’s diagnosis, we have had the pleasure of meeting other Southern California SMS kiddos just like Drew, siblings just like our own Reese, Levi, and Jesse, and families just like ours. Moms like me who have been to the brink and back, and fathers with weary, loving eyes. Our lives have changed dramatically. I am lighter. I see the future with more optimism.

And on the days I doubt, I remember this, and I trust that God is still there. 💙

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