Can you describe the events that led to the diagnosis of your two children with Niemann-Pick C?
Two of our four children were diagnosed with Niemann-Pick type C (NP-C).
Our second child Dana had a very normal birth and early development, except that she was a bit clumsy. In addition, from time to time Dana had a slightly enlarged spleen. But after many, many tests, the doctors decided it was viral and nothing to worry about; though we never completely put it out of our minds.
Then in the last half of kindergarten, in 1999, Dana’s teachers felt that she was not keeping up with the other children and that something was wrong, perhaps Lyme disease. Dana did test positive for Lyme disease, but that was only the beginning of a three-year search for an answer to Dana’s progressing condition.
In that same year, our youngest child, Andrew was born. And at six months of age, Andrew too seemed to periodically have a slightly enlarged spleen. But unlike Dana, Andrew was not clumsy and was developing normally.
In March 2002, after taking Dana to see many experts from New York to Boston, Dana was confirmed to have NP-C, and in July 2002 we founded the public charity, Dana’s Angels Research Trust (DART), to help find a cure. One of DART’s first missions was to help start the clinical trial for the drug Zavesca (miglustat) as a potential treatment for NP-C.
It was almost two years before enrolment for the Zavesca clinical trial started, and we sadly learned at the National Institutes of Health that Dana’s gaze palsy had progressed to where she was ineligible for the trial. Devastated, on the long drive home, we knew we had to get the drug for Dana off-label, and we had to face the possibility that Andrew also had NP-C and would need Zavesca because of his periodically enlarged spleen. Andrew’s test was a simple blood test to look for the same mutation that Dana had, and sadly he too tested positive for NP-C. Thankfully both were able to get Zavesca outside of the clinical trial.
Could you tell us a little about your children?
Everyone who knows an NP-C child uses the same word, angelic; and both Dana and Andrew were described that way. When seemingly healthy, both Dana and Andrew showed amazing kindness toward other children, including special needs children.
Once an energetic, happy little girl, Dana eventually lost all her abilities and was confined to a wheelchair. She was unable to walk, talk, had a feeding tube and in her last year, needed a tracheostomy. Despite her severe challenges and numerous hospitalisations, she never lost her sweet nature, always reaching to hold a hand, making her so deeply loved by all who knew her. Her strength and perseverance were a constant inspiration and taught people the true meaning of life and to appreciate each day.
Until the age of 14, most people would not have known that Andrew had something like NP-C. Much changed a couple of weeks after Dana passed away when Andrew started having seizures. They’ve continued for four and a half years now, averaging one every day or two. He started with ten or 12 a day so we’ve been able to control it somewhat. He is still sharp as a whip, but many days the anti-seizure meds tamp down his personality and affect his balance, and swallowing. But like Dana, people are touched by Andrew’s sweetness and want to help him and our family.
What treatments have they received?
Dana and Andrew were both on Zavesca, though when they started on Zavesca Dana was 11 years old and already in a wheelchair. Andrew was five years old and quite healthy, so Zavesca seemed to have a more profound effect on Andrew’s progression. Both also took various supplements we had hoped could help and both took N-acetylcysteine as part of another clinical trial and thereafter, until Andrew started in the VTS-270 clinical trial.
Unfortunately, Dana passed away just as the VTS-270 trial was getting started. Andrew was one of the fourteen Phase 1 patients in the VTS-270 clinical trial. Dana did not qualify to participate in that trial, so we were planning to apply for compassionate use for her before her passing.
What does a typical day caring for a child with the condition involve?
Since about 2003, our lives have been consumed with caring for a child. Dana’s disease progressed similarly to most NP-C children. By the time Dana initially received Zavesca at age 11, she was already in a wheelchair and had different pulmonary treatments three times a day. Over the next 10 years, as Dana’s disease progressed, she required more and more care, eventually having to be fed through a tube in her stomach, and before she passed, Dana had a tracheostomy and a respirator requiring 24/7 care.
Andrew, now 18, is much healthier than Dana was at this same age because he started on Zavesca at age five, and for more than four years now has been getting periodic spinal taps with VTS-270 as part of that clinical trial. But because of his seizures, Andrew does require constant supervision, and his anti-seizure medications require someone to walk with him at all times and sometimes he needs to use a wheelchair. Andrew still attends school daily, and loves movies and video games like any other teenager.
What would you say is the greatest challenge in caring for a child with such a rare disease?
Every child’s disease is somewhat different so an individual care plan is important. Andrew and some of the other NP-C patients who have benefited from our push to find treatments are also more cognizant of their affliction and what it means. So it is a challenge to keep them feeling good about themselves and their future. Fortunately for us, we feel the future for Andrew and many of the other NP-C kids is bright. We are making great strides scientifically and medically, and we especially feel optimistic for very young children who we believe have a chance at a normal, full life.
What coping strategies have you developed?
First would be our faith and the support of family and friends. The support of our community has also been overwhelming as we try to be a part of finding effective treatments for NP-C with DART. Since 2002, DART has raised about $4.5 million. It can never happen fast enough for a parent of a sick child, but helping to push things along as quickly as possible gives us hope for a better future.
What would make the biggest difference to your everyday life?
Stopping the progression of NP-C. Knowing that Andrew would not get any worse would lift the terrible cloud that hangs over our lives. Dana’s death was devastating, and it would be a blessing to know we would not have to face that again. There are some promising treatments in development out there that could make this hope a reality for children with NP-C.
What would a cure mean to your family?
A cure, or more likely a cocktail of treatments that would arrest the progression of NP-C, is what we hope and fight for right now. Our mission would not stop there, but we would turn to rehabilitative therapies like stem cells in order to repair the damage and replace what has been lost.
Niemann-Pick Disease Type C is an inherited neurodegenerative disease caused by a defect in lipid transportation within the cell, which leads to excessive accumulation of lipids in the brain, liver and spleen.
There is no cure for NP-C, although patients benefit from palliative treatments. Occupational therapy can be used to help with posture, speech and movement.
In 2009, the European Medicines Agency approved the use of Zavesca (miglustat, developed by Oxford GlycoSciences and marketed by Actelion) for the treatment of progressive neurological manifestations in adult and paediatric patients with NP-C. Zavesca has been shown to delay the progression and stabilise certain symptoms of the disease. However, this drug is not suitable for every affected individual. Zavesca has not been approved by the Food and Drug Administration for NP-C in the United States, but is now approved in much of the rest of the World.
It is hoped that by the first half of 2019, Sucampo Pharmaceuticals’ VTS-270 will obtain FDA and EMA approval, and would therefore be the first approved therapy for NP-C in the United States.
