Speech to the Congressional Rare Disease Caucus
Honorable members of the Rare Disease Caucus, distinguished guests, fellow advocates, and friends,
I come to you today as the parent of Chandler, an extraordinary eight-year-old boy, whose bright spirit is not dimmed by the weight of his rare condition. Chandler has Angelman syndrome, a rare genetic disorder that affects an estimated 1 in 12 to 15,000 individuals, or approximately 25,000 children and adults living in the United States of America and 500,000 living world wide.
When we got his diagnosis, it came through whole Exome Sequence testing and it revealed that he had a single letter misspelled, in a single gene, on a single allele, of a single chromosome.
One SINGLE letter.
One misspelling.
One amazingly small defect.
One MAJOR impact on the lives of thousands.
This tiny, yet profound error manifests itself as a myriad of severe, and frankly quite debilitating challenges: the foremost being a nearly universal lack of speech for most individuals living with Angelman syndrome. Despite my son’s ability to understand nearly everything spoken to him, expressive communication is a profound challenge. Making him unable to advocate for himself in nearly any way. In addition, individuals living with AS have challenges with gross and fine motor coordination, making falls during ambulation frequent, independent life skills challenging (like self-feeding and toileting), and some never even gain the ability to walk due to these challenges. Individuals with AS, like Chandler, live with a significant seizure disorder, some having many seizures a day. Most individuals with AS, including Chandler, have profound trouble sleeping. Resulting in hours each night trying to fall asleep and middle of the night awakenings keeping our entire family awake. The stress associated with these symptoms to our family are undeniable.
All because of one single letter.
This single letter has not only drastically altered Chandler’s life but has also sent a ripple effect through the lives of those who love and care for him. It’s a daily battle, a condition that never recedes into the background, but instead dictates our thoughts, our routines, and our finances. It brings stress to all of the relationships we have as a family and our daily interactions with both acquaintances and strangers.
And yet, despite the daily challenges, we have hope.
Hope fueled by pioneering research organizations like FAST — the Foundation for Angelman Syndrome Therapeutics and by the forward-thinkers at the FDA and the economic incentives of the Orphan Drug Act. These incentives have inspired a range of companies to explore treatments for Angelman syndrome. Some are leveraging artificial intelligence to identify existing drugs that could be repurposed, others are pioneering novel disease modifying therapies, gene therapies or gene editing strategies. We know these are expensive and financially risky endeavors for drug companies to take on, we know these are far less lucrative than focusing on the thousands of more common diseases, but each company believes they can make a transformative impact in the lives of those like Chandler — and have made the choice to invest in rare diseases like Angelman syndrome.
One of these companies is Neuren Pharmaceuticals, who is currently in numerous phase 2 trials with a compound, NNZ-2591, aimed at treating not just Angelman syndrome, but also other indications of Phelan McDermid, Prader Willi, and Pitt Hopkins Syndromes. This company, in partnership with Acadia Pharmaceuticals, just had a drug approved for Rett Syndrome. The excitement around the potential for this drug, as for the others that are currently in clinical trials, in the development stages, or in the drug discovery stages, is palpable — they give those of us living every day with Angelman syndrome hope. The potential of this drug, along with those that other companies have in the pipeline, is a lifeline for all of us.
But this glimmer of hope is now endangered by a provision within the well-intentioned Inflation Reduction Act. This act, aimed at reducing drug prices for consumers and institutions, has unfortunately and unintentionally created an obstacle for rare disease drug developers. There was already limited incentive for drug companies to focus on rare diseases, and this only furthers that sentiment.
Embedded in section 1191(e)(3)(A) of the Act is a phrase that, while seemingly minor, has seismic consequences for rare disease research. It states that The Centers for Medicare and Medicaid Services must exclude from price controls a drug, “…Designated for only one rare disease or condition and for which the only approved indication (or indications) is for such disease or condition.”
Within that sentence is a single word, “AND”, that inadvertently twists the Act’s intent, discouraging companies from pursuing additional indications for approved drugs. These are not hypothetical, what-if scenarios — these events are unfolding here and now, with tangible, devastating consequences.
The Stargardt disease community knows this scenario all too well. They have been closely monitoring a leading pharmaceutical company that recently halted its plans to repurpose one of their drugs to combat this disease. The company stated explicitly that the new price controls enforced by the Inflation Reduction Act were the reason behind their decision. Their research efforts, aimed at unveiling a secondary use for this drug, were obstructed by the risk of losing its orphan status, which would then expose it to potential price negotiations.
Sadly, this is far from an isolated incident.
Several other companies face a similar predicament, a fact that is both known and documented. Undoubtedly, countless boardroom conversations are underway across the industry, as companies evaluate their research pipelines in light of these new legislative realities.
Today, as Chandler’s parent, I implore you to consider this predicament. We dream of a day when science can surpass Chandler’s single genetic misprint, allowing him to live life to its fullest. But for that day to arrive, we need to correct our legislative misprints and ensure we are encouraging groundbreaking science and incentivizing drug companies to work hard to benefit patients with rare diseases like Chandler.
With your support, a straightforward amendment — perhaps changing a single word or even a single letter — could radically shift the landscape of rare disease research. This minor adjustment could be a monumental victory for families like ours, reigniting our hope and ensuring a future where our children aren’t confined by their conditions and where no disease is too rare to find a meaningful and transformative treatment.
Just as we aspire for Chandler to overcome his genetic misprint, I urge you to assist us in rectifying our legislative one. For if we have learned anything from our journey with Angelman syndrome, it’s that a single letter can change everything.
Thank you.