SLC6A1 Connect

Maxwell’s Favorite Thing – Riley

SLC6A1 Gene

Maxwell was newly diagnosed with SLC6A1 and no doctor knew anything about it.

More disIMG_5884heartening, no doctor wanted to learn.  I was feverishly reading anything I could get my hands on that could help my innocent little baby.  I was full of ideas and hope for an appointment with a neurologist, eagerly sitting down with pages of typed notes in hand. Unfortunately, the doctor had the bedside demeanor of World War 2 U-Boat Captain.   She was cold, stoic and too busy to be bothered with my questions.  One of my ideas was to begin Maxwell on a ketogenic diet, which has been proven to protect brain myelination, stop seizures and improve cognition. My thought was to pre-emptively begin the diet to protect his mind.  I looked at it like adding an extra layer of asphalt to a highway, so that as the disease advances and wears away at his progress, like traffic wearing down asphalt, perhaps that extra layer would slow down the deterioration.  She looked at me and said, “You sound like a desperate mother grasping at straws.”  I agreed with her and said “You’ve got to have at least one idea to help him?” She said the best thing for Maxwell is a sibling because he will eventually want to emulate her.   Needless to say, I left that appointment on a sour note and never saw her again.  Eventually, we found our present team of doctors that love Maxwell. 

Fast forward a year and half.  Maxwell and Riley are the absolute best friends.

Maxwell idolizes his little (albeit by 5 minutes) sister. I bought them little pool shoes from Walmart.  Maxwell got green shoes and Riley got pink shoes.  He hears the word swim and races to get the pink shoes before Riley can grab them.  Thank goodness, Riley is very easy going and shoe color doesn’t really matter to her.

Then he wanted her clothes, too.   Like any twin mother, I came to a quick compromise, I bought matching swimsuits from my favorite truck stop in Texas – Bucee’s!  I also bought another pair of pink shoes.  The twins are so happy to be matching. 

Riley intuitively knows how to soothe Maxwell.  She shares her treasured Paw Patrol figurines with him even though she keeps them hidden her pockets.  The neurologist was right – Riley has introduced the concept of play and competitiveness that a mother or therapist could never have done.  If only you could see them cook for one another in their little play kitchen.

Riley is a smart girl and has learned to use Maxwell’s lack of communication for her purposes.  When Maxwell cries, Riley tells Mark and I that Maxwell is crying because he wants to watch TV and eat gummy bears.  Nice try, girl. 

Many people have asked for an update.  COVID19 has created unprecedented awful time for this world.  Like many rare disease families, we lost our community of therapists, doctors and understanding friends.  Teleheath is simply not effective for physical, occupational, and speech therapy for a 3 year-old.  Medical doctor appointments are not helpful on Zoom.  Maxwell is regressing and losing skills he fought so hard to gain.  New health concerns have popped up and our hands are mostly tied.  We are waiting for this to end like everyone else.

There are so many good causes right now and your dedication to helping our kids goes further than ever before.  We are mothers fighting for our children and every penny raised goes toward developing a treatment.  People have asked what they can do, so here are some ways to help during this uncertain time:

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