Author: Sarah Fister-Brewer
In 2004, I embarked on my motherhood journey with a baby girl named Madeline. As most pregnant ladies, before Madeline was born, I focused more on getting her nursery together and picking out pink outfits than I did thinking about *her* as a little human. Caught up in which books I should fill shelves with or what stroller options we needed, filled my time before her birth. It was all rainbows and butterflies!
Our world was rocked when Madeline was born and cried all.the.time. She just seemed ‘off’ – something seemed amiss; our newborn seemed distressed. Like any nervous first-time parent with a baby who non-stop-cried, we took her to the doctor 2,4847 times the first few months, yet we were dismissed as being over-reactive new parents.
When Madeline was 5 months old, we noticed that she was making a strange movement with her eyes occasionally. Just her eyes. Luckily for us, we had a new pediatrician who didn’t feel right about this odd eye motion and ordered an EEG. As any parent who has been through a traumatic diagnosis with their child, I’ll never forget the look on the EEG tech’s face as she excused herself from the room and came back to ask us where we would be right after the appointment and how we could be reached immediately. My heart sank. I felt lightheaded and confused. And certain I was going to be ill. That day, we learned our 5 month old baby was having Infantile Spasms, a rare form of epilepsy which caused the brain to think it was seizing 24 hours a day. This diagnosis started our journey, which to this day we are still figuring out.
I will condense the 13 years after this diagnosis to a short synopsis, because if you are reading this, you too likely have a loved one with a rare condition, and reading the ins and outs of our journey isn’t exactly ‘light reading’! For the next 8 years after her I.S. diagnosis, she received numerous other diagnoses: hypotonia, apraxia, ataxia, GERD, global developmental delay, epilepsy, gait disturbances, cyclical migraines, visual accommodation issues, and on and on. Occupational, physical, speech and aquatic therapy filled our days, doctor’s appointments were a staple to our weeks. Yet, something was bothering us that while all of this was TRUE, most certainly, there HAD to be an umbrella diagnosis EXPLAINING the rest. That answer came for us when Madeline was 8 years old – FINALLY!
Madeline was diagnosed with 2q23.1 MDS which explained EVERYTHING for us! We were so relieved! We had already gone through the ‘grieving’ process when Madeline was quite young – so elation was our response to finally understanding that in fact we weren’t imagining things, all of Madeline’s multiple diagnoses were related! The seizures, sleep disturbances, GERD, short stature, learning difficulties and fine motor issue were all related to 2q! When we look at the faces of other 2qties (as we fondly call kiddos with 2q), we see the characteristics that we love about Madeline and which make her unique. It is the best feeling in the world to have a group to belong to!
Fast forward to present time, Madeline will age out of special education in 8 short years. As her mother, her future happiness (and health of course!) is a huge priority to me. I want her to find fulfillment in her life, as we make adaptations to ensure that happens. It was when contemplating Madeline’s future and looking at her strengths, that I decided to start Too Qute Boutique (www.tooquteboutique.com), as Madeline LOVES fashion. Too Qute is named after my inspiration, my 2qtie. When she is 21 and no longer in school, we will hopefully have a business large enough for her to help run!
We are learning as we go, finding meaningful ways for Madeline to contribute to the business. Right now, that means unpacking boxes, stamping her name on thank you notes, socializing with customers, and giving me her sassy teenage girl look when she doesn’t like what I picked out (Madeline is nonverbal but is GREAT at expressions!) I’m positive her contributions will continue to evolve as we grow! I feel a huge sense of relief that as her mother, in fact I *do* have some control over something in her life – while I can’t control anything medically, I CAN enable her to live her best life possible by getting enjoyment in her daily life as an adult, through the boutique.
It seems unfathomable to me when I think of how life would be if Madeline didn’t have 2q, because she has enriched all of our lives merely by her existence! You can read more “About Us” on our website and especially on our Facebook page, which chronicles Madeline’s contributions to the boutique and our journey together.