Sisters Nicole and Jessica Rich, both diagnosed with Batten disease, will finally be able to receive treatment at Great Ormond Street Hospital in London.
Nicole, who is six years old, has been treated there for about a year. Her mother, Gail, tells us that Nicole is being given treatment that could help prolong her life on “compassionate use” basis. The pharmaceutical company developing the drug had established a trial which saw very positive results. Thanks to the Batten Disease Family Association, they agreed to extend the use of the treatment to an additional five children in UK. Thankfully, Nicole got one of those places.
Meanwhile, Jessica, aged two, was seeking treatment in Hamburg, Germany. There were only two sites across the world in the program who had Sibling Trials running, and Hamburg was one of them. They also reduced the age limit, so that Jessica could join. She was only 22 months old when she had her first infusion, seven months after she was first diagnosed. As a result, the Rich family has spent much of the last year traveling constantly traveling between Hamburg, London, and the family’s home in Newcastle.
Batten disease begins in childhood and affects the nervous system, with symptoms appearing anywhere from 2 to 10 years of age. The first symptoms are typically seizures or problems with eyesight. Other symptoms include behavioral changes, clumsiness, learning regression, mental impairment, and the progressive deterioration of speech, motor skills, and vision. Because there is no cure, the disease is always fatal, although lifespan can vary depending on the subtype. People with Batten disease rarely survive into their teenage years. To learn more about Batten disease, click here.
The impracticality of having to treat their two daughters in different countries is a testament to the barriers that face patients with rare disease, which can keep patients from getting treated effectively. However, the Rich family considers themselves fortunate because they were able to get both of their daughters into treatment. Recently, the family learned that they will be able to finally have both of their daughters receive treatment at the Great Ormond Street Hospital, which will be a major convenience boost for them. Gail share that the Sibling Trial in London was established to allow Jessica to move to be with her sister in London, and it will be ready for any siblings who are diagnosed in the country.
However, not everything is going well for Nicole and Jessica. Recently, the National Institute for Health and Care Excellence (NICE), determined that the drug that is being used to treat the sisters did not qualify to be eligible for the UK’s National Health Service (NHS). NICE determined that cerliponase alfa, the name of the drug in question, is still lacking in long-term clinical evidence that proves it is effective.
However, long-term feels less relevant when Batten disease can kill patients before they reach their teens. The Batten Disease Family Association has started a change.org petition contesting the NICE decision; right now it is nearing 90,000 signatures.
