Cara Jackson (Tampa, FL)

By Carolyn Jackson

Cara is the 3rd and youngest child in our family with Fragile X Syndrome. She was diagnosed at the age of 5, her twin sisters at 14. It was a bittersweet day in that we finally got a name associated with all the learning disabilities the twins had but now we also knew Cara had the same diagnoses and was just starting school with speech services of early screening. By 1st grade, her classmates started noticing her peculiar ways and friendships were not developing. She was loved by all in her sweet mannerisms and bright smile but not finishing class work like the others was starting to weaken any self confidence.  She started withdrawing and found comfort in play time being on her own. Before we knew it, we had a double diagnoses of Fragile X and pervasive developmental disorder – non otherwise specified (PDD-NOS), a high functioning form of Autism.

It was time to leave the mainstream school Cara started and loved.  They could not give her the necessary tools to be successful. We found ourselves once again in a school created for children that do not survive well but in an environment created for them. The first 2 years were a struggle as she really missed her previous school, I could see she was not always happy. Many days would not even talk about the day. The anxiety grew in her to the point that medication was not always helpful. Panic attacks were with every storm in our rainy season. Car rides for as long as she wanted would only calm her down.  Paula,our canine companion dog, soon entered her life to help with socialization, calming fears, and being a best friend.  Finally the car rides transitioned into laying with the warm and soft feel of Paula. It was still a lot of work.   She entered year 3 in school with hesitation but comforted of knowing the routine. With little appetite from all the meds she was on, getting her to eat was a challenge every meal.  After much thought and reading about a trial study med that so many fx children were doing well on, her Pediatrician gave her blessing and I officially inquired to the closest clinic if we would be eligible to participate.

We were in. We had to come off most of her meds.  How would we make it through each day? The meltdowns got worse and more frequent. The teachers were patient but nerves were thin at home.  All for a pill we don’t even know is the actual drug or a placebo.  Not much change the first few weeks of swallowing these little white pills.  I didn’t want to notice or look for any changes.  I didn’t want to be disappointed. Then, I picked up Cara one day from school and I hear she seems happier. The next week, I hear she is much more engaged in the classroom. She starts talking to me and her Dad about how she feels certain times of the day.  We have never heard her speak like this before. We are having conversations now. What is going on? Although sealed, pretty sure she was taking the real medication.

Time to stop 1st part of study to go into the extension. Since I knew what she was capable of, I wasn’t worried the short time weaning her off and going back on the open label study. 2 more years of her expressing herself and growing intellectually was so exciting. We were reestablishing friendships. She was able to comprehend higher level math such as long division  that my 19 year olds cannot do. Her standardized test scores rose the highest of all her classmates. Thunderstorms were less of a bother now. Her bond with Paula increased 10 fold. It was like finally reaching in and unlocking part of her we knew was there and couldn’t get to.  She was eating and growing.  Her precious mind was just soaking all of this up.  We were going to be okay.

The bombshell announcement of discontinuing the study came to our family and like so many grieving families out there, there was not much to do but cry.  My friends and their friends all with bigger challenges than mine are all faced with the fact that they are going to watch their child possibly regress to what they once knew before stx209.  This drug doesn’t just affect the child, it affects the whole family, the community that the family relies on when they need a break or someone to talk to. Our family saw such a reduction in stress over the successes of Cara.  Her twin sisters understood what it was doing for her and couldn’t wait for it to be approved so they could try it to be another tool in their road to independence. Finding a cure for Fragile X may be a way down the road but Arbaclofen /stx209 is a real game changer NOW for allowing our children to be so much more than they are without it.

 

Cara & Family

Cara & Family

f