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New Jersey State House Event: Rare Diseases and the Life Cycle

View images from the event here

Read about the March 13th event:

Rare New Jersey a working group of patients, patient advocates, and life sciences professionals working together to improve the lives of rare disease patients in New Jersey, will present an hour of learning and discussion, Rare Diseases and the Life Cycle, in Trenton, NJ on Thursday, March 13, in Committee Room 4 of the State House Annex Building from noon to 1:00 p.m.

Rare Disease Day in Trenton will also be marked by the introduction of a resolution in the New Jersey Assembly Herb Conaway. Selected members of the group are also expected to address the Assembly Health and Senior Services Committee, which is chaired by Assemblyman Conaway, in the morning prior to the educational workshop.

Co-sponsored by the National Organization for Rare Disorders (NORD) and BioNJ, the state’s trade association for biotech companies and affiliated organizations, the event will be held in honor of Rare Disease Day, an annual, global event that draws attention to rare diseases as an important public health issue that cannot be ignored.

While each condition may affect a small group of people, the total number of people living with rare diseases is equal to as much as 10 percent of the general population. All across the country similar groups of state-based rare disease patient advocates are joining with state legislators to focus on this important initiative. With the enactment of the Affordable Care Act and the new heightened role states play in the lives of patients, this topic is extremely timely and important.

Event Program

At the event in New Jersey, legislators, patients and the advocates who support them will highlight the issues affecting rare disease patients in every phase of life.

Assemblyman Conaway will speak on behalf of rare disease patients across the State. In addition to his work as an assemblyman, he is a physician in private practice. 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 health issues citizens of New Jersey face like diabetes.

Patients, Care Givers and advocates Tell Their Stories

Working from the theme, Rare Diseases and the Life Cycle, rade disease patients and their caregivers will address how the impact of a rare disease begins even before birth. Rare disease patients face a myriad of obstacles in their quest for good health care and access to school, work, and housing. There will be a total of eight patient and caregiver speakers at the State House event who will discuss issues that include the diagnosis, the search for treatments and specialists, newborn screening and the affordability of care. Their brief stories will exemplify the rare disease advocacy community’s challenges and triumphs in different phases of a patient’s life cycle.

Ken Ovitz will speak on the difference preconception and/or 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. However, with this condition, blood sugar levels are so erratic in the early years that the girls must be very closely medically monitored for now. The Ovitz family is now in danger of losing the necessary skilled private nursing hours for their daughters due to coverage issues. The nursing is needed to sufficiently stabilize blood sugar levels and prevent brain damage at this critical time in their children’s lives.

For many diseases preconception and prenatal testing are not available. Newborn screening is also only available for some rare diseases. For babies and children with unexplained symptoms, diagnosis is often a very long process. It took 18 months for Lisa and Greg Schill’s son, Max, from Williamstown, NJ, to be diagnosed with Noonan’s Syndrome, a RASopathy. Rasopathies are a group of rare genetic conditions caused by mutations in genes of the Ras-MAPK pathway. 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.

Erica Cirillo of Toms River, NJ has a four year old daughter, Leigha, with a condition known as 3p short arm deletion. There is no cure for the condition which causes cardiac and orthopedic problems, as well as developmental delay. There are treatments and therapies to improve overall health and functioning of patients. As with all diseases that affect development, the earlier and more intense the therapy is, the better the outcome. Cost of treatment, therapies, and medications have been staggering for the Cirillo Family. While Erica and her husband Joseph have excellent private insurance through Joseph’s employer, the family has trouble making ends meet because of the costs of hospitalizations, medications, and appointments for Leigha. Some of the specialists that Leigha sees regularly are not covered in the plan and the family must travel to centers of excellence like CHOP and Johns Hopkins for the care Leigha needs.

Peter Herbert, from Gloucester City, NJ is a 17-year-old teenager with CAPS (Cyropyrin associated periodic syndrome) and a host of other conditions. Peter is on the cusp of adulthood and the issues he faces illustrate just how hard it is for those with rare diseases to make the transition to independent living. Like so many others, diagnosis took years. Although he had many symptoms from early childhood, he was not diagnosed until he was 12 years old. Peter’s major symptoms are frequent and very high fevers, migraine headaches, rashes and visual changes. He feels very sick about 95 percent of the time

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.” Today, Peter is speaking out, to share his difficulties and concerns about the future. His mother, Carla Herbert, will join him to provide some background and detail on the challenges this family is facing.

While Nadia Bodkin of New Egypt, New Jersey 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 a host of health issues affecting organs and strength. Nadia will share the difficulties of entering the working world with a rare condition. All people need access to work, including those with a rare condition. Nadia will share how her dream of becoming a practicing pharmacist was shattered due to having this rare condition. Not to be stopped, Nadia will also share how she is moving forward in her quest for an independent life, despite living with a rare condition.

Jennifer Costner from Bordentown, NJ 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 knows first-hand how a life can change on a dime from this condition because her father, who also suffers from the condition, was a fully functioning adult one day and then confined to home with multiple disabilities the next. Jennifer’s aunt also has the condition and it has left her completely paralyzed on one side of her body and bed-ridden.

While fine now, Jennifer is worried 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 reminds us that rare diseases often affect whole families and of the enormous sense of the unknown and dread that comes with a diagnosis.

Sadly with rare conditions, the end of the life cycle often occurs very early in a life

Sadly with rare conditions, the end of the life cycle often occurs too early in a life. Susan Anderson, of Bridgewater, NJ is the mother of 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. 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 will focus importance of research into the ultra-rare diseases that still remain undiagnosed.

The program will conclude with a NORD representative who will speak on the national movement to raise the profile of those living with rare diseases and the work NORD has been doing for years across the country to support rare disease patients.

A luncheon will be held immediately after the program at the Lafayette Yard Hotel, 1 West Lafayette St, Trenton, NJ that will provide patients and caregivers with an opportunity to meet other members of the rare disease community and the people who support them. Space is limited, so please RSVP to Julie Raskin at jraskin@congenitalhi.org by March 11, 2014 and let her know how many are in your party.