A raw, biting and cold wind whipped through Trenton, the State Capitol of New Jersey, on March 13, the day Rare New Jersey organized important events in the Capitol to raise awareness of rare diseases. This unusual weather did not dampen the spirit or hinder people–some with significant physical and medical challenges–from making the trip to the State House. Rare New Jersey was bound and determined to raise awareness of the challenges faced by people living with rare conditions, the mission of the working group, after the originally scheduled event in honor of Rare Disease Day, the last day of February, was cancelled due to a snow storm.
The first order of business for the day was attending a meeting of the Assembly Health and Senior Services Committee in Committee Room 11. Chairman of the Committee, Assemblyman Herb Conaway, introduced Bill AJR54, designating the last day of February of each year as “Rare Disease Awareness Day” in New Jersey to raise public awareness of rare diseases, to encourage support for patients and families affected by rare diseases, and to promote further research into rare diseases and their treatment.” Dr. Conaway has been a leading health care advocate in New Jersey focusing on increasing access to excellent care while keeping costs down, and tackling some of the most common, yet challenging, health issues citizens of New Jersey face like diabetes.
The committee members listened to moving testimony by Rare New Jersey members including Lisa Schill, Vice President of the RASopathies Network USA, and the parent of a child with Noonan Syndrome. In her testimony, Lisa emphasized the large number of people living in New Jersey with rare diseases, approximately 900,000. She told of how long it took for her son to be diagnosed, and the issues rare disease patients face accessing care. Debbie Hart, CEO and President of BioNJ shared the exciting work that biotech and pharmaceutical companies are engaged in, in New Jersey, to develop new medications for rare diseases.
Following the committee meeting, members of Rare New Jersey and other interested parties gathered in Committee Room 4 for an hour-long presentation on Rare Diseases and the Life Cycle. The event was co-moderated by Jane Castello and me, Co-Chairs of Rare New Jersey, and sponsored by NORD, the National Organization of Rare Disorders, and BioNJ, the state’s trade association for biotech companies and affiliated organizations.
Those attending the event learned that rare disease patients face a myriad of obstacles in their quest for good health care and access to school, work, and housing. Patient advocates and six patients and patient caregivers spoke at the event. Each speaker highlighted a different phase in the life of a person living with a rare disease.
Tai Spargo, Assistant Director of Communications at NORD, spoke first sharing some rare disorder statistics, how prevalent they are when added together, with 10% of the population affected, and how few treatments there are for over 7,000 known conditions. She gave context to Rare New Jersey’s work by highlighting that there were events all across the country at state houses for Rare Disease Day. She talked about the fact that there were also events all over the world, and that awareness is growing as a result of Rare Disease Day activities.
Ken Ovitz was the first parent to speak. He spoke on the difference prenatal diagnosis can make in the life of rare disease patients. He and his wife, Rachael of Cherry Hill, NJ learned through prenatal diagnosis that their two daughters, Ayelet and Galia, would be born with congenital hyperinsulinism (HI), a rare disorder causing severe and prolonged hypoglycemia due to the overproduction of insulin. As a result of this early warning, the family gained access to the Center for Fetal Diagnosis and Treatment at CHOP and special measures were taken during pregnancy, the birthing process and after. The intensive care needs of the girls in their early months were met. In this way, brain damage, which is a great risk for patients with this condition, was avoided. Managing the condition is still a very heavy burden for this family—it requires 24-hour vigilance—but the worst of the disease is the awful consequence of going undiagnosed at birth, with brain damage occurring before diagnosis.
Because of prenatal diagnosis, the Ovitz girls suffered no brain damage. Ayelet Ovitz, a 3-year old, attended the event with her father and her nurse. It was so gratifying to meet this delightful little girl and to be able to visibly recognize the value of early prenatal diagnosis.
However, with this condition, blood sugar levels are so erratic in the early years that Ayelet and her sister must be very closely medically monitored for now. Private duty nursing is needed to sufficiently stabilize blood sugar levels and prevent brain damage at this critical time in their children’s lives. Ken expressed his deep frustration with his insurance company for continuing to deny necessary private duty nursing hours.
Lisa Schill, who had offered testimony during the Committee Meeting spoke next. It took 18 months for Lisa and Greg Schill’s son, Max, from Williamstown, NJ to be diagnosed with Noonan Syndrome, a RASopathy. Lisa described how RASopathies are a group of rare genetic conditions caused by mutations in genes of the RAS-MAPK pathway. She shared that abnormalities of this pathway have profound effects on development including distinct facial features, cardiac defects, growth delays, developmental delays, neurologic issues, and gastrointestinal difficulties. As a result of the diagnosis, Max’s family learned that Max also has a bleeding disorder. Knowing he has a bleeding disorder enables the family to be extremely vigilant about the need to prevent or immediately treat a bleeding episode. The diagnosis, in Max’s case, was life-saving information. Lisa shared that others with RASopathies have had even more serious struggles. Max is a Batman enthusiast and Lisa left the audience with an inspirational quote from Batman: “You and I…with what we do…what’s at stake…we can’t fail. Others don’t understand, but even if it’s impossible, we still have to succeed.”
Peter Herbert, from Gloucester City, NJ spoke next. Peter is a 17-year old teenager with CAPS (cyropyrin associated periodic syndrome) and a host of other conditions. Peter, on the cusp of adulthood, shared all the issues he faces illustrating just how hard it is for those with rare diseases to make the transition to independent living. Like so many others, diagnosis took years for Peter. Although he had many symptoms from early childhood, he was not diagnosed until he was 12 years old. Peter shared that CAPS is an ultra-rare disease. Less than 400 people around the world suffer from it. There is genetic testing for the condition but no cure and inadequate treatment options.
Peter has been home-schooled since he was in pre-kindergarten. The condition has left him too tired and sick to go to school. He worries about the future. What supports are there for him and others like him as he transitions to adulthood? Peter believes that part of the reason there is so little support for rare diseases is because “people don’t know we exist.” At the briefing, Peter was able to speak out and share his difficulties and concerns about the future. The audience was deeply affected by Peter’s extremely brave presentation accompanied by touching photographs documenting Peter’s life.
Nadia Bodkin of New Egypt, New Jersey spoke next. While Nadia had symptoms of Ehlers-Danlos Syndrome (EDS), a connective tissue disorder, for years, she did not receive a diagnosis until she was in college. There are no treatments and no cure for this syndrome which causes many health issues affecting organs and strength. Nadia focused on the difficulties of entering the working world with a rare condition. All people need access to work, including those with a rare condition. Nadia explained that her dream of becoming a practicing pharmacist was shattered due to having this rare condition. Not to be stopped, Nadia has moved forward in her quest for an independent life becoming an international patient advocate in her role as Founder of EDSers United, a nonprofit organization dedicated to serving the Ehlers-Danlos Syndrome community.
Meanwhile, Jennifer Costner is in the prime of her life. She has CADASIL (cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leukoencephalopathy). CADASIL is characterized by the potential onset of migraine headaches and multiple strokes progressing to dementia. Other symptoms can include cognitive deterioration, seizures, vision problems, and psychiatric problems. Jennifer spoke about how this condition can transform a life overnight. Jennifer’s father, Jim, accompanied her at the podium. The condition has drastically changed Jim’s life. He was a fully functioning adult who is now wheel chair bound and must live in a nursing home because of the care he requires.
Jennifer shared her worries about the future. In Jennifer’s own words: “I constantly worry that my husband at some point will no longer be able to care for me as my disease progresses. Because we will not be able to afford the care that will be needed for me, I worry that my husband will have to stop working to care for me or alternatively find a job where he can work from home, and being that he has worked in the same profession for 24 years, this will be nearly impossible. So, as a consequence of my disease, the likelihood of us losing our home will be a very real scenario we will have to face. Obtaining life insurance, long term care insurance and disability plans after such a devastating diagnosis is nearly impossible and if the possibility exists, it is too expense to afford.” Jennifer’s story once again reminded us that rare diseases often affect whole families and of the enormous sense of the unknown and dread that comes with a diagnosis.
Jennifer’s mother, Ronnie, was also at the event. Ronnie was physically distraught because she recently learned that her husband Jim is in danger of losing Medicaid coverage as well as his ability to stay in the nursing home where he is well cared for – all because of a very small cost of living increase in his social security payments. The event was an opportunity for members of Rare New Jersey, the media, and government aides to offer support and guidance to Ronnie as she seeks to have Medicaid reinstated for Jim.
Sadly, with rare conditions, the end of the life cycle often occurs too early in a life. Susan Anderson, of Bridgewater, NJ spoke next of her son Erik, a teenager who 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. Susan shared how devastating it is to have a child with a disease so rare that there is no known treatment. She also told of the family’s dedication to the value of being involved in research studies. Erik and his family volunteered for research studies at the NIH which led to the discovery that Erik had a very unusual t-cell defect. Further research into this defect eventually led to a greater understanding of many patients with similar complications. Susan ended on an upbeat note, sharing that there has been much progress in medical research, and that we can expect much more.
The program ended with more upbeat news from Debbie Hart of BioNJ who described the uptick in rare disease research and development and the prominent role New Jersey companies are playing. She stressed the importance of patient/industry partnerships.
A luncheon was held immediately after the program at the Lafayette Yard Hotel just a few blocks from the State House. Rare disease families, advocates, and those working in the rare disease space had an opportunity to talk informally and plan for the future because as Debbie Hart and her colleagues have phrased it, Patients Can’t Wait.
