The rare disease world is filled with many high-highs and low-lows with some days being much better than others. I cling to the happy days when Maxwell learns a new skill, scientists reach a milestone achievement or something wonderfully unexpected happens.
Today is one of those happy days… a day of sheer celebration we will never forget. This day also happened to fall on my birthday.
About 10 months ago, we humbly stepped forward and exposed my family’s most private heartache in the belief we could, collectively, change Maxwell’s and many more children’s course of life. We set a $1,000,000 fundraising goal to get gene replacement therapy off the ground at the University of Texas Southwestern. The $1,000,000 goal covers the cost to develop the treatment and test the treatment in mice for efficacy and toxicity.
I am happy to tell all of our supporters, tireless volunteers and loving individuals that we have cleared this initial funding hurdle!
There have been many days when we felt this fundraising milestone would not happen and so writing this blog entry has been a dream I hoped would come true. The day has arrived and the Freed household is celebrating with joy!
None of this would be possible without the unimaginable outpouring of support we have received from each and every one of you. Through our tears and fears, Mark and I have seen the best side of humanity. Over thousands of calls to scientists, 40+ different events and fundraisers, countless visits to various academic and corporate labs trying to find solutions, and, equally as important your seemingly limitless compassion, empathy and prayers. We truly don’t have the words to express our gratitude for all of the love we have felt during our fight. It empowers us during our darkest moments.
The journey that initially began as a quest to help Maxwell has transcended my little family. We were told Maxwell was 1 of 34 patients in the world when he was diagnosed and that is not true. In actuality, SLC6A1 is a newly discovered disease and intuitively, you can’t be diagnosed with a disease that does not exist. As a result of the awareness and research our non-profit has generated, we now know that SLC6A1 is the 10th cause of autism, 6th cause of epilepsy and plays a major role in many psychiatric conditions. Newly diagnosed patient families are finding me at a rate of 5 families per week. Each family is scared, grieving, confused and in dire need of help. They feel exactly like we felt on diagnosis day. I have spent countless hours crying with parents, trying to stay realistic while instilling optimism, and trying to explain a disease their doctor had never treated. The new diagnoses are in varying stages of the disease and all need treatment yesterday. I feel the profound responsibility of helping each and every child afflicted.
We are raising our “all-in” fundraising goal to $4,000,000 to help more children as quickly as possible.
The goal will also provide a budget to pursue other novel treatment approaches. There is so much more that can be done and this is just the beginning. I won’t rest until this disease ceases to exist.
I also have more exciting news. An incredibly generous donor is willing to match the next $50,000 we raise to advance the treatment. We have one month to raise $50,000 which will generate $100,000 for the next leg of this journey.
We still need your help to keep momentum going…every like, every share, every tag helps more than you know! Every dollar donated will give a family another healthy, happy day with their baby.
Today, we celebrate this milestone for Maxwell and our entire community. A year ago, I never could have dreamed we would have come this far!
Tomorrow, the hard work continues. Thank you, again.
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