Global service

Rare diseases are A global public health problem. One district has decided to act.

Story by Patrick Maurel

Kiwanis members around the world have taken on many different fundraisers and signature projects. In an effort to share some of these ideas with other members in a fresh way and to get people thinking of new project ideas, Kiwanis magazine is launching a new feature titled, “In their words.” 

This month, we kick it off with a piece by Montpellier, France, Kiwanian Patrick Maurel, a research and laboratory director and expert in the field of molecular biology who introduces Kiwanians to the work the France-Monaco District is doing related to rare diseases. 

By definition, a rare disease is one that has a low prevalence, meaning fewer than 1 in 2,000 in Europe, 1 in 10,000 in Australia or one that affects fewer than 200,000 people in the United States. However, low prevalence does not mean low impact.

There are between 7,000 and 8,000 rare diseases, which collectively affect approximately 5 percent of the world’s population, or about 400 million people. This adds up to about 37 million Europeans, 1.2 million Aussies and 16 million Americans. Rare diseases make no distinction between ethnic origin or social levels. They are present and strike everywhere. Almost everyone knows someone who has a family member suffering from a rare disease. And these diseases are causing a global public-health problem.

The children on the front line

Most rare diseases — 80 to 85 percent — are of genetic origin (due to a mutated gene) and often appear clinically immediately after birth or during early childhood. Hence, half of the people affected by a rare disease are children (representing about 200 million worldwide). These diseases are chronic, irreversible, continue throughout life and 65 percent are disabling and/or life-threatening. It’s estimated that 35 percent of the infant mortality rate is due to rare diseases.

Another major problem is they are difficult to diagnose. Families often spend years trying to understand what’s making their child or loved one sick. Most rare diseases have no cure (a therapeutic treatment exists for only about 250 of them).

Since pharmaceutical companies are, for evident economic reasons, reluctant to undertake long, costly and risky research on a disease that would only affect a few hundred or thousand people in the world, there’s a critical need for other means for financially supporting the research on these diseases, in terms of diagnostic, molecular understanding and new treatments.

A true Kiwanis mission

All of this information leads us to this question: Should children die from a rare disease merely because the number of cases is so small?

In the France-Monaco District of Kiwanis, we believe that fighting against rare diseases is a true Kiwanis mission.

Therefore, we have decided to make rare diseases our major national program by providing two kinds of support:

• To families of kids, helping them to get appropriate medical care
• To the Rare Diseases Foundation, a French institution involved in medical and clinical research on such diseases

Margot’s case

Margot (below) was 6 years old when her case was presented to the France-Monaco District in March 2016. Suffering from cerebral palsy* since birth, she had never walked and was moving in a wheelchair or crawling along on the ground. 

The only way to improve her condition was a selective dorsal rhizotomy, a delicate neurosurgical technique to reduce spasticity and improve mobility in children with cerebral and lower extremity spasticity. But the best surgeon for this operation was Tae Sung Park, the Shi H. Huang professor of neurosurgery and neurosurgeon-in-chief at St. Louis Children’s Hospital in Missouri. And Margot was in France.

Margot’s parents evaluated the costs, including travel, hospital bills and housing, and realized they could not make it. Hence, Margot became the first case for the France-Monaco District. In a few months, more than 55,000 euros were collected. 

She had her successful operation in St. Louis a few days before Christmas 2016. During their stay in St. Louis, Margot’s family received a lot of help from the Kiwanis Club of Crestwood-Sunset Hills. Since September 2017, Margot has been walking without help for the first time in her life.

Research funding

Although being quite useful, all our actions aimed at helping families will not eradicate rare diseases. The only way to reach this goal is to develop new methods of diagnostic and therapies.

Since 2016, six research projects selected by the Rare Disease Foundation have been funded by the France-Monaco District, including Fragile-X syndrome, Cockayne syndrome, genetic mechanisms of developmental malformations of cerebral cortex, hereditary optic neuropathy, endocardial fibroelastosis and genetic diagnosis of severe intellectual deficiency.

The Kiwanis members of the France-Monaco District are very proud of what they have accomplished and are continuing their fight against rare diseases.

*Strictly speaking, cerebral palsy is not a rare disease since its prevalence (1-4/1000) is slightly higher than the definition (1/2000). However, it is the most frequent motoneurone-linked disability in children. In addition, the handicap of these children is similar to the one related to other “true” rare neuromuscular diseases. We, therefore, included this disease in the France-Monaco District’s actions on rare diseases.

Kiwanian with a cause

Patrick Maurel spent most of his career at INSERM, the French Institute for Health and Medical Research, as a research and laboratory director. He holds a Ph.D. in molecular biology (Paris University) and has authored 215 papers in international scientific reviews (PubMed). He’s been an expert in hepatology and drug detoxication. His group also worked on hepatitis C virus and stem cell biotherapy. He has been fellow of several scientific societies involved in liver diseases and drug detoxication. More recently, he joined a biotech company (MedesisPharma) as chief scientific officer. This company is developing drug delivery systems for the treatment of neurologic and rare diseases as well as drug-resistant cancers.

Maurel has been a member of Kiwanis since 2011. He has been president and secretary of the Kiwanis Club of Montpellier, as well as lieutenant governor. In the France-Monaco District, Maurel is the person in charge of Rare Diseases projects and fundraising.

Learn more about the Rare Disease Foundation at fondation-maladiesrares.org. 

This story originally appeared in the March 2018 issue of Kiwanis magazine.