Extraordinary Measures, the movie starring Harrison Ford, is based on a true story and deals with a father of two children suffering from an incurable genetic disease that causes the weakening of the muscular system and death who is in pursuit of the development of a drug that will save their lives. The inspiration was John Crowley, founder of Amicus Therapeutics. Both of Crowley’s children were diagnosed with Pompe disease, a rare genetic disorder that causes muscle weakness and breathing problems. There were no treatments available at the time, and the prognosis was grim.
Crowley quit his job and founded a biotechnology company dedicated to developing a treatment for Pompe disease. He recruited a team of scientists and investors and worked tirelessly to raise funding for research. After years of hard work and obstacles, Amicus Therapeutics developed a treatment for Pompe disease that was eventually approved by the FDA. The treatment has since been used to treat hundreds of patients with Pompe disease, improving their quality of life and extending their lifespan. Crowley’s story is a testament to the role of parents of children with rare diseases and the strongest drive in a parent’s nature to protect their offspring.
Since Crowley there have already been other successes of parents of children with rare diseases, Thomas Gad is a businessman who focused on marketing generic drugs in South Africa and when his son Daniela became ill with neuroblastoma – he founded the company Y-mAbs Therapeutics which developed an experimental treatment for neuroblastoma. The treatment was approved by the FDA in 2021.
Vaccine injection, archive photo (Photo: Reuters)
Symbolically, he gave the drug the trade name “Danielza”, after the Disney princess Daniela Beito and Elsa: “This is an important day for children who suffer from neuroblastoma tumors. It is very exciting that an experimental treatment that I used for my daughter is being approved by the FDA,” said Gad . Danielza was even included in the Israeli drug basket last year.
The crucial role of the families of patients with rare diseases has already been published in articles, according to the article Doing it all – How Families are Reshaping Rare Disease Research published in the National Library of Medicine, parents of children with a rare disease have extensive enough knowledge to build a kind of independent research teams, Raise funds to finance complementary research strategies, and even use the services of external companies to strengthen and expand the findings they have reached. And this trend, of course, does not extend to Israel either.
“Song for Life”
The life of the Baralia family changed beyond recognition about two years ago when Shir, one year old, was diagnosed with neuroblastoma – a rare and violent cancer. After all possible efforts to find a cure failed, Shir passed away. As part of dealing with her personal pain and loss, Einat decided to help other families whose children were diagnosed with a rare disease.
The “Shir for Life” association was established about eight months ago and since then Einat has been working tirelessly to promote research on the subject of neuroblastoma. “The association works to promote two studies – one in the field of diagnosis and the other in the field of treatment,” Einat explains. “The first study deals with diagnosis with the help of liquid biopsy (biopsy through the blood), which reveals the recurrence of the disease in children who are defined as recovered by identifying remnants of the disease, in a more reliable way than the imaging currently available. The percentage of recurrence in neuroblastoma is very high (50%), so monitoring by means is very important are better. The simulations that exist today are not available enough, emit a lot of radiation and children have to be anesthetized in order to undergo them,” says Einat.
A song for life, a lemonade stand to raise awareness (photo: courtesy of the families)
In addition, Einat is promoting a collaboration with a children’s hospital in Philadelphia: “The program includes bringing doctors from Israel for a one to two-year internship at the hospital in the USA, where the Israeli doctors will learn, deepen and treat the children with neuroblastoma,” says Einat.
The association works in locating and funding the best and most promising research, raising awareness of the disease among parents and doctors in order to bring about an early diagnosis as possible; Creating and promoting collaborations that will improve knowledge and professionalism on the subject.
“We the community of people and families are part of the global solution to Creutzfeldt-Jakob disease”
In recent years, Alice Enan has been leading a major global project to establish a biobank – a bank of biological samples from carriers of Creutzfeldt-Jakob disease, a debilitating disease better known as “the mad cow”. The global project that Alice is promoting together with Prof. Shimon Reisner is supported by Harvard University, Klalit Health Services and the Soroka Medical Center.
“It is enough for only one parent to be a carrier of the disease to pass it on genetically,” explains Alice. “When I started researching, I discovered that today there are about 400 families living in Israel who are carriers of the disease, which is about five percent of all the carriers in the world.”
Only this understanding led to the thinking that precisely here in Israel, with a biological database of the carriers of the disease, it is possible to study and understand the mechanism of the development of the disease and promote the development of a treatment that will lead to a cure from it. “If we manage to locate the risk factors, we can avoid them, intervene at an early stage when the situation is still reversible,” explains Alice, who dedicates her life to the project. Alice’s drive began in 1986 when she was only 15 years old. Her father, Dido (Elijah) Dedosh, died unexpectedly at the age of 49 from Creutzfeldt-Jakob disease, and became even stronger when her daughter was diagnosed as a carrier of the rare disease in an amniocentesis. Now with great hope of finding a treatment that will lead to a cure before she reaches 30, the age after which the disease may break out: “It’s a mission,” says Alice. “I left an administrative position, for me there is nothing that is not possible, you have to work to promote a solution, it will not happen by itself.”
The Zefryon team for Alice research on the disease in space (photo: courtesy of the families)
Her work already has encouraging results: “One of the most important discoveries we had in the research is that not all carriers develop the disease. From the information available in the world so far, someone who is a carrier must get sick at some point in their life,” explains Alice. “We managed to reach 90-year-old people who are carriers but did not get sick! The very fact that such cases exist means that there are triggers here that can and should be investigated and thus understand how a diagnosed person can be protected from the outbreak of the disease.”
In the last year, the biobank reached feasibility and realization in Soroka under an agreement that the association that founded it also has a significant say in its management and not only in the hands of the medical and research people “we are the community of the carriers and the families are part of this array of the solution to the disease”.
“I earn my son and his smile every day anew”
Ortal Yehuda, the mother of 12-year-old Harel, dedicates her life to accompanying her son, who was diagnosed with Hunter syndrome, which is characterized by developmental impairment and loss of skills. “Harel is my oldest child, he was born in a completely normal birth and as he grew, things changed,” says Ortal. “At the age of two, Harel became seriously ill with the RCV CRV virus and was hospitalized. A decade ago there was almost no information about the disease and no awareness at all.”
Ortal Yehuda with her son (photo: courtesy of the families)
Harel’s doctor told his parents that he probably wouldn’t make it to the age of 6, but his parents fought to give him the best treatment that slows the progression of the disease. “When we were diagnosed, we were advised to contact a parent in the field. He accompanies me from the moment of the diagnosis in everything. Later, parents also come to me for a talk, and Levi and I do this with great love, and I am there for them alongside my experience of 12 years alongside the disease, and I am there to accompany and be there for the parents as well.” the freshers'”.
Harel was in a normative educational framework until he entered the second grade, when the corona epidemic started, and Harel had to stay at home. “I decided to be his companion, I got strength from him to get up every morning and just sacrifice my life. I don’t spend, I don’t earn what I could earn – but I earn my son and his smile,” shares Ortel.