Harry Zucker (Skokie, IL)

By Jeanie Calenoff

I am sure that I am not the only mother of a Child with Fragile X Syndrome who, in recent days has been reaching out to anyone who can help.   For the past three and a half years, my son Harry participated in a drug trial of STX209 (arbaclofen, a form of baclofen) sponsored by Seaside Therapeutics of Cambridge, MA and administered through the Fragile X Clinic at Rush University in Chicago.  Four days ago, Seaside had all the Fragile X Clinics contact the study participants with the crushing news that the company was out of money and could no longer provide the study drug.   Families had initially been told that they would continue to get the drug through to the date of FDA approval.   With the phone calls and emails of the last four days, we were now told that we would have to begin an immediate weaning off process from arbaclofen.

Fragile X is the most common cause of inherited intellectual disability and the most common known genetic cause of autism or autism spectrum disorders.   Fragile X is like a heavy blanket that drapes over our children who have it.  The syndrome causes not enough FMRP protein to be made.  FMRP is the protein that puts brakes on certain molecular pathways at the neuronal synapse.   It controls the filtering at the synapse so that you don’t hear things 20 times louder than others or smell things 20 times more strongly or feel a light touch like a physical attack.  Without FMRP, learning is slowed.  The noise from the outside world is almost unbearable without the FMRP filtering system.  And thus, kids with Fragile X are easily hyperaroused and can have violent meltdowns because of the sensory overload.  The kids are developmentally delayed, have cognitive impairments, speech delays (or no speech), problems with anxiety, sensory issues, toileting, motor disabilities, seizures and behavior.  Arbaclofen dampened down this synaptic no- brake situation!  It allowed my son to think and move, be more in command of his body, his voice, his behavior.  It woke him up and allowed everyone (and him especially) to see what he knew, what he could do.  It was the most exciting thing we had ever seen!

The current astounding research funded by the CDC, NIH and DoD is showing new proof of long known connections between Fragile X and autism.  Treatments (none of which are FDA approved as of yet) are minimizing the effects of Fragile X on those who have it. This one drug, arbaclofen was being given to those as young as 5.

Because of arbaclofen, my 13 year old son can now swim, run, speak any word. He is starting to sing.  He will eat any type of food.  He can tell me that he loves me.  He can show what a sneak he is.  There is testimony after testimony from other parents to the same.   In three and a half years, Harry has been able access his mind and body in ways that would have totally stymied him before.  The longer he was on the arbaclofen, the more his confidence grew, the more he was willing to say hello to our neighbors and not ask me to help him greet them, the more he was willing to go out of his comfort zone and try doing new things.

Yes, my son still has Fragile X and he is still delayed in many areas but he was catching up with arbaclofen.  And now, it’s gone.  He will regress no doubt and be afflicted again by not having the filter for his overstimulated nervous system.   He will be a lot less in control of himself.  He will not be who he wants to be, who he is without his heavy Fragile X blanket.

I am writing in hopes that someone can bail out Seaside Therapeutics so that they may continue the arbaclofen extension until the drug is taken for approval to the FDA (expected this summer).  The cost is a few million.  The lives of our children affected by Fragile X and their families who have extreme hardship because of the behaviors or seizures arising from having Fragile X would be rescued from this dire situation of the drug being taken away.   One million people in the U.S. are carriers for Fragile X and unknowingly pass it to their children.  One hundred thousand people in the U.S. have Fragile X Syndrome.   The syndrome is worldwide across all peoples, races, religions.   As a genetic sequence repeats itself and expands down through generations, Fragile X (unless there is a cure found) will be a public health crisis.  It already is for all of us who live with it.

If you can help our families who have benefited from arbaclofen and never want to go back, you will be healing the world.  I thank you from the bottom of my heart.