Connecticut Moves One Step Closer to Recognizing Rare Disease as Door Opens for New Treatment

State Senate Minority Leader Len Fasano, State Representative Dave Yaccarino and First Selectman Michael Freda applauded the advancement of legislation that would bring more awareness to a rare disease impacting a local North Haven boy and his family.

The state’s Government Administrations and Elections Committee voted to approve proposed legislation “An Act Designating a Spinal Muscular Atrophy with Respiratory Distress Awareness (SMARD) Day,” the first step in moving this proposal to become law.

Senator Fasano and Representative Yaccarino proposed the bill that would create “SMARD Awareness Day” to raise awareness about the extremely rare disease that affects only 80 people worldwide including Hunter Pageau, an inspirational nine-year-old from North Haven. Hunter testified himself in support of the legislation last month.

“This legislation shows that Connecticut is committed to understanding and advocating for Hunter’s needs,” said Senator Fasano. “Just because SMARD is rare does not mean that it should go overlooked. The needs and experiences of Hunter and his family are unique. There is no national support system. They are largely alone in their quest for help. This legislation means they don’t have to be alone any longer. Designating ‘SMARD Awareness Day’ would show that CT is also committed to recognizing their struggles and their strength. The more people that are aware of Hunter’s story, the more we can work together to support his needs, embrace hope and help other families who face similar struggles.”

This good news comes at the same time an international breakthrough in SMARD treatment has surfaced, making awareness for Hunter and his family even more important.

“Now that a cure is in sight and a door has opened, it’s more important than ever before that Connecticut becomes aware of this disease and all rare diseases so that we can work together to bring attention to the needs of Hunter and his family,” said Representative Yaccarino. 

Sharon Agli Pageau, Hunter’s mother, explained that new research published last week by a group of Italian scientists shows that a specific type of gene therapy has proven effective in treating and potentially reversing and curing SMARD. Currently, there are no effective treatments for SMARD. Thanks to this new research, European scientists and doctors now have a template for human clinical trials for AAV9-mediated therapy.

“We are now focused on ascertaining support for Hunter’s receipt of all curative SMARD medicine, regardless of where we have to travel for Hunter to receive a cure, which is currently Italy!” Agli Pageau explained. “SMARD does not define Hunter, but instead, he is defining the powerful message of hope, love, never giving up and helping others. Hunter’s attitude and amazing life accomplishments to date consistently reveal this personal message of his. We are so very proud of him and will continue to support him at all costs.”

“I do not let my disease prevent me from being happy or following my heart and dreams,” Hunter Pageau said. “SMARD is not who I am. It is part of me, but not all of me. A huge door has opened to a cure for my disease and I continue to be helpful and hopeful. Thank you to everyone that will reach out to help me get to Italy to receive this care.”

To help Hunter, friends of the Pageau family have set up a fundraising website at: http://www.youcaring.com/medical-fundraiser/help-hunter-pageau-outsmart-smard-a-cure-now-within-reach-/314436.

To follow Hunter’s story, visit his Facebook community page:  https://www.facebook.com/HOPEforHunterPageau.

More information about the new research can be found in the March Science Advances Journal article “Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model”: http://advances.sciencemag.org/content/1/2/e1500078.