Celebrating Like it’s 2017

I was exactly 34 weeks pregnant, and it was the day of my maternity photoshoot.  Our sweet photographer said 34 weeks is the perfect time because women are glowing, but that is not the case when you are 5’2, 100 pounds and carrying twins.  I could barely walk, Mark put on my shoes and I hadn’t seen my ankles in at least two months.  My alligator arms couldn’t reach my keyboard during the day.  Glowing wasn’t precisely the right term to describe me.  I sat on a bench to pose for my first photo and I remember the photographer telling me to bring my knees closer together.  My legs were numb under the weight of my stomach and I kept asking if my knees were moving because I couldn’t see or feel them.  I was trying to get into bed that night when my water broke.  I had a scheduled C-Section for 37 weeks. A C-Section at 34 weeks was not part of the plan. 

I sprang from bed, jumped in the shower and began blowing out my hair. I was determined to have good hair for those first pictures.  In the excitement of the moment, I had forgotten about labor pain.  The excruciating pain began as I applied by mascara.  We abruptly left for the hospital and had ourselves a birthday party.  March 27^th, 2017 was the best day of my life – I met my little knuckleheads.

Four years later, it is Maxwell and Riley’s birthday, and we are celebrating like it’s 2017.  Maxwell and Riley are growing into the most wonderful little humans.  Maxwell is passionate about anything Baby Shark and has really nailed the choreography.  He is a fine connoisseur of goldfish, hot dogs and, surprisingly, California rolls.  But most of all, Maxwell loves Riley.  We tuck her into her bed every night and Maxwell gives her a big wet kiss to which Riley says, “that’s too much!”  Riley is sassy and articulate.  The conviction with which she speaks often makes me forget she is just 4 years old.  “Mom,” she’ll say, “we’re going to have pancakes with powdered sugar, go to the park and I don’t need a nap today – how does that sound?  Oh, I’m also a ninja.” 

So, in the spirit of celebration, we have some incredible news to share. SLC6A1 Connect will be hosting a drug repurposing trial!   

Last April, we could still smell rubber from the brakes being pulled on all of our large scientific projects due to COVID as we quickly re-evaluated.  SLC6A1 Connect began a large drug repurposing effect to discover new uses for previously approved drugs.  Drug repurposing is fast, cost efficient and sometimes you hit gold with a drug that would never have been considered.  What if something as simple as Vitamin E or Prevacid – two examples of compounds that have helped similar conditions – could impact SLC6A1?

Computer modeling, artificial intelligence and old-fashioned journal sleuthing were tested first.  The petri dish lit up with an already FDA-approved drug named Ravicti, a chemical chaperone that has previously been used in urea cycle disorders.  This drug is not a cure. Could it help our kids immediately and slow down the progression of SLC6A1?  Absolutely!  The drug is considered to be very safe with reasonable side effects.  In fact, the side effects are nothing compared to the typical medication most SLC6A1 patients are prescribed.

SLC6A1 Connect formed this clinical trial in just four months, thanks to our strong network of parent-led organizations, dedicated neurologists and hospitals willing to host patients.  Families will be enrolling within the next couple of weeks.  There is no better way to celebrate the twinado’s birthday, fellow fighter mom Leyla Vardar’s birthday and to change the day’s stigma from diagnosis day to first big win day for the Feldman family.

I can’t emphasize enough that none of this would be possible without the person reading this page.  We could do none of this without you – the words of kindness, volunteer hours, donations …  These are miracles underway and will help a multitude of children and families.  Every single penny raised has gone straight toward research – we are simply moms trying to give our children a chance.