Supporting Duchenne patients through innovation
We’re working to provide equal opportunity to life for all Duchenne children who have rare mutations.
The results indicated a liver problem and we were sent to perform a series of additional tests, all of which were normal, except for the result concerning the liver. Just before we were referred to a biopsy, one of the doctors we consulted recommended a CPK test (an enzyme called creatine phosphokinase) whose presence in the blood indicates damage to the muscle tissue.
The test values came and indicated abnormal results – Yoav’s CPK value was fifty times the average value in children. Another specific examination that we were asked to perform brought with it the horrible news.
In October 2019, Yoav was diagnosed with Duchenne Muscular Dystrophy (DMD)
with a rare and unique mutation in Israel and around the world.
We were initially focused on researching and understanding the disease that Yoav would be required to deal with, and continued to examine the options available for treating the disease.
As our research continued, we talked to parents of Duchenne children, made contact with doctors and researchers in the field in Israel and around the world – and discovered that this disease has many mutations, and some, like the one Yoav has, are extremely rare. We realized that the cost of developing a drug for an orphan disease was very expensive and that the drugs developed so far to treat Duchenne were not suitable for all patients. We understood that for 35% of Duchenne patients worldwide, there is no therapeutic solution today.
One in every 3,500 children will have Duchenne, the vast majority of them boys, since the genetic defect leading to the disease is on chromosome X. Duchenne is defined as an orphan disease (a very rare disease) with around 300,000 patients worldwide, and in Israel, 350 patients are currently diagnosed.
The manifestations of the disease start to appear in early childhood, and the diagnosis of the disease usually occurs between the ages of four to six. Muscle wasting leads to a substantial decrease in muscle mass, compared to healthy children, and makes it difficult for patients to perform daily activities such as walking, jumping, climbing and running.
Injury to the leg and pelvis muscles leads the children to sit in a wheelchair, right at the beginning of the second decade of their lives.
Beyond the physical disability, muscle wasting leads to various medical problems among the patients. Most Duchenne patients do not live long, and the devastating damage to the heart and lung muscles leads to their death in as early as the second or third decade of their life.
Children with Duchenne need an envelope of routine supportive treatments, which include physical therapy, hydrotherapy, occupational therapy, adherence to proper nutrition and regular medication. These help to maintain muscle function as much as possible.
At present, no treatment has been found to cure the disease, and Duchenne is still an incurable disease.
The results indicated a liver problem and we were sent to perform a series of additional tests, all of which were normal, except for the result concerning the liver. Just before we were referred to a biopsy, one of the doctors we consulted recommended a CPK test (an enzyme called creatine phosphokinase) whose presence in the blood indicates damage to the muscle tissue.
The test values came and indicated abnormal results – Yoav’s CPK value was fifty times the average value in children. Another specific examination that we were asked to perform brought with it the horrible news.
Our nonprofit organization was established to give equal opportunity to life for all Duchenne children who have rare mutations, with the understanding of the daily struggle every family with a child with Duchenne is facing, and all the more so with rare mutations.
Goal
and the Duchenne children who suffer from rare mutations.With your help we can win Duchenne.
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