Last Monday, March 4, Congenital Hyperinsulinism International and thirteen other patient organizations presented a program aimed at raising awareness in the state of New Jersey of the plight of people living with rare diseases. NORD and BioNJ, the Biotech trade organization for New Jersey, supported our efforts to deliver this presentation which took place at the New Jersey State House in Trenton, NJ.
Prior to the event we networked and shared information and materials in the annex tunnel. Those of us representing the different organizations found synergies and bonded about ways we could work together in the future to further our causes. The ARC was there advocating for folks with developmental disabilities. I got to meet some of their amazing self-advocates who were really taken with our “Be my sugar” T-shirts. They were amazed by the phrase on the t-shirts and the idea that sugar (dextrose) given to a newborn intravenously could potentially protect hyperinsulinism babies from developmental disabilities. We realized we should be working together on the prevention of developmental disabilities and the rights and needs of people living with developmental disabilities.
Our formal program took place in a large committee room, lending an air of heft to the event, which added to a sense of power and possibility for our newly formed group of New Jersey rare disease advocates. The NORD creed, “Together we are Strong” was the message we were able to convey because we really felt it.
At 11:30 the program began. The unifying theme of our eight speakers was “Every Patient Counts.” The organizer extraordinaire, Jane Castello, of Softbones and I moderated the event together. Jane and I had never even heard of each other two months prior to the event. NORD brought us together to plan this event and we sure got to know each other fast. It turned out we are born partners!
Our first speaker was Mary Cobb, Senior Vice President with NORD, the leading umbrella organization providing advocacy, education, research and patient/family services for the rare disease community for 30 years. NORD is responsible for Rare Disease Day taking off in the US. Just as she had done on Rare Disease Day at “A Very Special Cocktail Party,” Mary set the stage for the whole event, explaining the larger context of rare disease advocacy. She shared the NORD message that through working together we can make our voices heard and improve the lives of rare disease patients.
Our second speaker was Debbie Hart. The only word for Debbie is dynamo. Jane and I first got to see Debbie in action presiding over a meeting that over 700 people attended; the Annual BioNJ Meeting. Debbie has been the President and CEO of BioNJ since 1994. During her tenure, the Biotech sector in New Jersey has surged, and with this surge the prospect of drug development, better treatments and even cures, have increased.
Debbie then introduced Francois Nader, who has just been installed as the Chairman of the Board at BioNJ. Dr. Nader who is also President and CEO of NPS Pharmaceuticals, discussed the launching of the medication Gattex® (Teduglutide [rDNA origin]) for Injection. This drug is remarkable because it is the first treatment for short bowel syndrome in 40 years. Dr. Nader spoke of his commitment to patients and his company’s pledge to assure that no patient would be denied Gattex because of inability to pay for the medication. We hope that other biotech and pharma CEOs take note and make a similar commitment to patients.
Shari Ungerleider of Wayne spoke movingly of the life and death of a son who died of Tay-Sachs at age 4 1/2. Tay-Sachs is an autosomal recessive genetic disorder caused by the absence of a vital enzyme known as Hex-A. As a result of her personal experience Shari has devoted her professional life to pre-conception carrier screening. Shari is the Executive Vice-President of the National Tay-Sachs and Allied Diseases Association and Project Coordinator for the Jewish Genetic Disease Consortium (JGDC). Congenital hyperinsulinism is one of the conditions that is now included in the carrier screening panel of the Jewish Genetic Disease Consortium, which is excellent because it provides prospective parents with an opportunity to have a birthing plan in place that greatly reduces the risk of prolonged hypoglycemia and brain damage.
Diana Autin, Co-Chair of SPANNJ (Statewide Parent Advocacy Network of New Jersey) spoke about how schools, healthcare systems, and other systems of care need to partner with parents of children with rare diseases to ensure that these systems of care effectively address their children’s needs and prepare them to transition to adult life. Diana collaborates with just about everyone in the state to make sure these systems of care are delivering the services that children with rare disorders need. Following the event at the State House Diana shared with us resources for parents concerned about special healthcare issues in every state. Diana has an amazing ability to foster collaboration between different groups and stakeholders for the good of children with special needs.
Susan Anderson, of Bridgewater, NJ shared the story of her son Erik who passed away when still a teenager. He was afflicted with several rare blood disorders (ITP, autoimmune neutropenia and hemolytic anemia) and even rarer neurological and pulmonary complications related to an underlying immune disorder. Erik died before his condition could be diagnosed and Susan emphasized the need for diagnosis and treatments for ultra-rare diseases. Susan’s story was remarkable because of the extent to which her family, including Erik, was concerned about the progress of understanding the defect he suffered from for the benefit of other patients.
Ellen Welch, PhD, Director/Genetic Disorders, PTC Therapeutics discussed her work discovering small molecule drugs for the treatment of rare disorders. Ellen explained that a single type of mutation (nonsense mutation) can be the underlying cause of a subset of the individual cases of most inherited diseases. She talked about how a drug that selectively promotes their suppression could have broad clinical potential for numerous genetic disorders currently lacking significant therapeutic options. Her talk illuminated how researchers are on the verge of great discoveries that have the potential to cure many people living with rare disorders.
The last speaker of the day was Brooke Foster, an eleven year old girl from Englishtown, NJ. Brooke lives with Mastocytosis, a rare disorder characterized by the overproduction of mast cells, and mast cell activation syndrome (MCAS), which can cause a variety of unpredictable symptoms in both children and adults, including skin rashes, flushing, abdominal pain, bloating, nausea, vomiting, headache, bone pain and skeletal lesions, and anaphylaxis. Brooke’s speech was exceptional for its self-advocacy. Brooke shared a PowerPoint presentation that articulately explained her rare disease.
Jane Castello ended the event by reading the New Jersey Joint Legislative Resolution acknowledging the last day of February as Rare Disease Day. Jane also listed all the organizations that were part of the consortium that made this event a reality. The organizations are: The CARES Foundation, NOMID Alliance, The Sturge Weber Foundation, APS Type 1, The Mastocytosis Society, Children’s Cardiomyopathy Foundation, Amicus Therapeutics, IAFFPE, – “Let them be Little X2″, MDS Foundation, Leigha’s HOPE, Softbones and Congenital Hyperinsulinism International.
The New Jersey group of rare disease organizations hopes to offer a yearly event in honor of Rare Disease Day. We are also planning to work together throughout the year to improve the lives of patients living with rare diseases.
-Julie Raskin
