Roos family on msnbc.com homepage
An online Reuters article, published earlier today, and titled “New drugs, fresh hope for autism patients” along with the photographer’s blog entry, called “Living with Fragile X” and a Full Focus post, Reuters Full Focus blog post, “One in 88” features National Fragile X Foundation team member Holly Roos. In addition to her day-to-day challenges as a mom of two children with Fragile X syndrome, Holly helps many others in her role as our LINKS Program Assistant in our parent support group network. She also co-leads the Central IL Fragile X group which she founded in 2006. All of us here at the National Fragile X Foundation have a great sense of pride and excitement at seeing her so eloquently describe her family’s life in such a honest and hopeful way.
As of this publication, the article has been published in close 20 editions internationally and was also the feature story on MSNBC.com earlier today.
Robert M. Miller
Executive Director
I also found the Reuter’s article to be exceptionally well-balanced and I’d like to acknowledge the author, Julie Steenhuysen, and photographer Jim Young, for taking the time to get it right. The NFXF works with all of the pharmaceutical companies mentioned in the article and we see firsthand the dedication of their scientists and clinicians. For me, the article underscores that it is the collaboration of families and professionals that will spearhead progress and lead to better lives for those with FXS and their families.
A few quotes from the article:
Julie Steenhuysen
Reuters Correspondent
…”Many of the genes related to autism are right in the same pathway that has been implicated and worked out in Fragile X,” says Dr. Edwin Cook of the Autism Resource Center at Rush University Medical Center in Chicago, which is participating in the Seaside Therapeutics trials. “I don’t expect any medication to help everyone, but I think we have a good shot here.”
Seaside’s arbaclofen works by reducing the amount of glutamate available in the synapse. The experimental drug Novartis is testing works by a different mechanism; it blocks glutamate receptors on the surface of the neuron.
Novartis’s trial of its drug for Fragile X in 30 adults failed to show statistical significance. But in seven patients with the most severe form of Fragile X – those with a full mutation of the FMR1 gene – the drug showed significant reductions in hyperactivity and inappropriate speech. Novartis is now running a larger study in Fragile X, and it will test the drug for four months instead of one…
…A geneticist gave Holly the grim prognosis. Parker would live in an institution. He would never be toilet-trained. He would never go to school. He would never be independent. (His sister, like many females with Fragile X, is highly functional and shows scant impairment.)
Undaunted, Holly enrolled Parker, then 10, in one of Seaside’s trials of arbaclofen for Fragile X patients. At the time, Parker could say only a few words. Instead of talking, he screamed. “He had a happy scream, and a sad scream, and an ‘I want that’ scream,” Holly says…
From Jim Young’s “Living with Fragile X” photoblog entry
I introduced myself and right away Allison wanted to show me her room. It was pink and purple, with toys and princesses everywhere, much like many 9 year old girls. Parker was curious at first but soon just went about his routine. After Parker went to bed, I stayed up with Holly for a few more hours just to talk and learn about their story and where they are now…
