A New Year

Living with a Rare Disease is like Walking a Tightrope over the Grand Canyon.  Your gaze must stay focused forward on achieving treatment.  You can never look backward or down because you will stumble and fall.

In 2019, we stepped out in the midst of our most private heartache to make our story very public.  It was the only way to bring awareness, scientific talent and funding to a disease that didn’t have a name.

We have made lightning progress over the past year. 

We have advanced a gene replacement therapy along with the University of Texas Southwestern.  I nearly even smuggled mice from China to advance our therapeutic efforts faster.  On December 5th, we hosted a 100 scientist symposium to bring forth collaboration and discuss advancing treatment efforts.

We closed 2019 with a larger tribe.

We now have more families mobilized in our fight against SLC6A1.  The Bassi family held a gala in Canada for their son Chase, the Weinstein family has hope after a lifetime of having no answers for Michael, and California has rallied around a little beauty named Rowen.

Belgium is hosting a texting campaign to raise funds for a boy named Axl to have a chance at life.  Axl is the only known patient in all of Belgium and his seizures are increasing in frequency and severity by the day.  Axl understands that a treatment is around the corner and his mother Leyla has given up sleeping to fundraise.  They were just featured on the Belgium Evening News.

A boy named Charlie was diagnosed shortly before his 2nd birthday and his family has come out swinging.  Take a look at their Christmas lights!   Kansas City is united to help this loving family.

A Cure for Charlie

All of these accomplishments are commendable but SLC6A1 kids are still very sick and suffering.

Time is of the essence for every innocent child that needs our help.  We are still planning to begin a Phase One Clinical Trial for gene replacement therapy in 2020.  The $1,000,000 raised thus far has covered development and pre-clinical testing.  We still must raise another $3,000,000 to cover toxicology, the costs of drug manufacturing and the administration of the clinical trial.

Without all of the people reading this blog, we would not be where we are today.

Mark and I had no idea what to expect when we made a video with a plea for help.  Then the angels came.  Our GoFundMe has been shared 9,500 times on Facebook and we have 2,100 donors.  Each share on Facebook has equated to $37.50 of funds raised – the power of social media is astonishing.  I have received thousands of messages of encouragement.  Parents of affected children as far as Romania have reached out after reading about us.  The Huff Post, Buzz Feed and Daily Blast Live have followed our story with compassion.

This world is actually a very good place filled with very loving people.

Thank you.  Thank you to every single person that has lifted our family.  You have and continue to make a big difference in not only the life of Maxwell, but every child with SLC6A1.

Gene replacement therapy is not a question of IF but a WHEN and our dear friends have walked this journey with us.  2020 is the year of the cure for SLC6A1 for Charlie, Michael, Chase, Rowen, Axl, Maxwell and every other child with this rare disease.

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