Desperately Seeking Solutions: Parents Create their Childs Therapy Themselves

As originally reported in the Washington Post: many parents of children with rare diseases are familiar with the agony of mystery surrounding their children’s medical conditions. The frustration of searching and searching, and being unable to find answers.
Simon and Nina Frost dedicated themselves to hunting down an ultra-rare disease ever since the birth of their daughter, Annabel. From birth, she displayed symptoms of disease with pain, temporary paralysis, eye flickering, and muscle contractions. The explanation was not immediately obvious and they did not rest in their pursuit of help. They visited any and every neurologist they could. Finally from their fervent search emerged an answer, though not one they had hoped for. Their daughter was diagnosed with alternating hemiplegia of childhood, an ultra-rare genetic disorder that has no treatment.
Alternating hemiplegia of childhood or AHC is a genetic neurological disease that affects the bodies ability to repeatedly fire nerve cells, causing symptoms such as difficulty breathing, choking, and falling down. This is due to a mutation on a gene that relates to the body’s critical sodium potassium pump. The symptomatic episodes that involve paralysis on one or both halves of the body are highly dangerous, potentially leading to permanent brain damage or death.
Annabel however, is a curious four year old. They talk about her friendliness, her outgoing nature, how loving and caring she is, her quirks and love for choosing clothing. She walks with a slouch, needs extra naps to prevent episodes, and has difficulty forming sentences for more than a few words. None of that matters to her loving parents who see what a special daughter they have, and are wrapped up in fears about her future.

Seeking Out Experts

Annabel’s parents were shocked by the dire news and so they did the only thing they thought could to save their precious daughter. They jumped into the next phase: to find the relevant doctors and support. However, the disease only effects around 900 children in the world, meaning experts are few and far between. The relevant foundation recommended just four physicians in the US, the only with enough knowledge on the matter. The doctors were hard to reach but they finally made an appointment with one that had a two month wait. The Frost family was full of questions and expectations, but they found there was a focus on basic research, but not so much on helping develop a cure, therapy, or answering individual questions for the patients. They felt very isolated and alone. They express wanting her to just live a normal life: to walk and talk, to date and work. And they’re not the only ones. Theres a whole host of families who want the same thing for their little girls and boys.
And so Simon Frost, real estate investor and developer, former rugby player to boot, did something completely out of his comfort zone. He felt if he didn’t, nobody would: so he became an expert himself.

From Parent to Scientist: Taking on the Mission

From here, he found himself become a leading figure in the field, as there were already so few on the topic. He became a project manager, coordinated research, assisted in the design, and now, is the head of a project aimed to develop a novel gene therapy in hope of treating his daughter.
Together, Simon and Nina created the Hope for Annabel Foundation to fund relevant research. They worked with Cure AHC and Alternating Hemiplegia of Childhood foundation and together they raised $750,000 this year, with $150,000 out of their own pocket. However, its projected to need three to five million dollars more to get to a clinical trial.
Simon used his business experience to guide his method of approach, keeping a glossary of terms and learning the language of both the disease and rare disease funding. He would stay up all night, spend his weekend reading wordy journal articles and attempting to know the ins and outs of this disease and disease in general, digging into the properties of molecules, cells, and the very nature of drugs. He hired a cell and molecular biologist, Natalia Morsci, as a consultant, who has been helping him with decision making and understanding the treatments.
He dug into the field and after half a year learning the ins and outs, he created his own idea for the gene therapy. He traveled to Denmark to meet with scientists to discuss his potential therapy: treating his daughter’s AHC disease with a type of gene therapy known as adeno-associated virus, AAV, which provides healthy genes to make up for the mutated ones. He made connections here to add to his team, and then, even got a meeting with scientists from the National Institute of Health, the NIH. He made connections that could help him get funding, and impressed the scientists with his level of mastery on the topic.

Steven Gray’s Gene Therapy Lab

 He hired various research organizations to assist with lab research he did in the lab of Steve Gray, a molecular biologist and associate professor of pediatrics at UT Southwestern Medical Center. Frost hired Gray to help build the AAV, the virus he intends to engineer as the treatment. He then contracted a range of research organizations to work with Gray’s lab, building a team of 20 doctors and scientists, rather than hiring a whole academic team which is costly and slow. The process is still taking time but moving along, with a few tests on mice going over with issues such as the gene replacement being too large and having many of the mice die, even one of the last with a mutation being mistakenly killed. Nevertheless, the treatment is on the right path.
Frost is a trailblazer and particularly motivated and successful parent in a modern trend for parents with rare disease: taking on the project themselves. Gray, explains that many parents are finding how limited the treatment options are for rare diseases. Coming upon money and experienced scientists are crucial. For this reason, many families are seeking out these gene therapies. Gray guides these gene therapy trials through the research stages. However, he is swamped with parents seeking out gene therapies, as there are more than 7000 rare diseases similarly lacking a treatment option. Frost however, has become such a high level researcher, he can potentially be the creator of the cure he hopes to see himself. I’m not sure if I’ve ever heard of a bigger display of love than this one.

What are your thoughts on the parents role in creating medical solutions? Share your stories, thoughts, and hopes with the Patient Worthy community!

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