Nine-year-old Nathan has had over 1,000 stitches to date. His skin, hyper fragile, is prone to tears. The young boy has Ehlers-Danlos syndrome, a rare disease. But he is far from the only one.
Published on August 1st2021Alice Girard-Bossé La PresseIn the courtyard of Sainte-Justine hospital, Nathan plays with his puppy Mira in the company of his big sister Chloé and her little one brother Gabriel. Besides a few scars on his forehead, nothing could suggest that the 9-year-old boy has skin as fragile as tissue paper.
“When Nathan was born, he was called Baby Jell-O. It looked like he had no tone, he bent, we found it a bit funny, ”says his mother, Julie Desroches. When the toddler started to move around on his own and bumped into himself, he immediately developed bruises. "When the bruises started to split, we asked ourselves a lot of questions," she recalls.
The family has Nathan evaluated for hematology. Nothing abnormal is detected. At 18 months, a family friend, a doctor, recommended that they go for the test for Ehlers-Danlos syndrome. The test is positive. He is indeed suffering from this genetic disease.
Ehlers-Danlos syndrome is a rare disease that affects the production of collagen. This protein is essential for wound healing, for skin elasticity and for holding tissues together. About 1 in 5000 people have the disease.
His skin is like tissue paper, as soon as he grabs it, it tears. Normally, when you cut yourself, it's a nice straight line, but Nathan, his skin tears all over the place and it makes very large wounds.
Julie Desroches, mother of Nathan
After the diagnosis, no support was offered to the family. The parents were left to fend for themselves. “With rare diseases, it’s hard to get help. Parents have to search a lot. There is no follow-up. You receive a diagnosis and you don't know what to do afterwards,” says Mme Desroches.
After much research, the family contacted the Jewish Rehabilitation Hospital in Laval to have Nathan followed up there. "He was young and he was small, so we were refused, because he did not fit the criteria," recalls his mother.
Nathan was diagnosed at 18 months, which is an exception. "It's very young. There are some who discover it in their thirties, ”she says. The young boy was therefore transferred to the Marie-Enfant hospital, then to the CHU Sainte-Justine.
DrDaniel Borsuk, Chief of Plastic Surgery at CHU Sainte-Justine and known for performing the first face transplant in Canada, took Nathan under his wing. Thanks to his team, he developed a special technique to repair the boy's injuries.
In children, the thread used to make the stitches melts on contact with the skin and disappears in one to two weeks. The problem ? Nathan has a much longer healing time ranging from six to eight weeks.
"In one to two weeks, Nathan is not cured. So if you put melting points, the whole wound will reopen. Even if the wound is minimal, you have to put in permanent stitches,” explains Dr. Borsuk. To allow better healing, the plastic surgeon closes his skin in several levels.
Nathan has received over 1,000 stitches so far. The young boy has become an expert at having them posed. During procedures, he sings songs, plays games with his family, and chats with doctors.
The plastic surgeon will always remember his first meeting with his young patient.
He didn't move and watched me do the stitches. He was not even 4 years old and he was already used to having stitches. Normally, children scream and cry.
Dr Daniel Borsuk, Chief of Plastic Surgery at CHU Sainte-Justine
In the first years of his life, Nathan was often in the hospital. “He was hurting himself every two weeks,” his mother said. In order to limit injuries, his family had to reorganize the house by installing foam mats in several rooms.
At 9 years old, Nathan is now more aware of the risk of injury and he wears protective clothing at all times. These are custom-made padded garments, which the family renews every year.
"To someone who sees him, he just looks like he's wearing a sweater under his t-shirt. He lives very well with that, because he is very aware that his protections are a guarantee of his pleasure, his happiness and his life, ”says Mme Desroches.
However, insurance does not reimburse these very expensive garments. “As it is a preventive garment, insurance does not cover it. Every year, we look for grants,” she says.
Nathan's disease affects the production of collagen in all the connective tissues of his body. In addition to the fragility of his skin, his syndrome also affects his tendons, ligaments and organs. Anything made up of connective tissue can break down.
"Nathan is followed in cardiology because he has a heart murmur, in orthopedics because he has scoliosis, in speech therapy because of the hypermobility in his jaw, in occupational therapy because his fingers bend upside down when he picks up objects and in ophthalmology because his eyes can deteriorate", lists his mother. This is without taking into account his multiple follow-ups in genetics, dermatology and plastic surgery.
All these specialists see the young boy every six months or every year. “If you look in his file, he had hundreds and hundreds of hospital appointments,” says Dr. Borsuk.
The syndrome does not prevent Nathan from having a normal life. He is in a regular school and has no academic delay. An attendant accompanies him 25 hours a week. “She watches over him when he travels, she makes adaptations during physical education classes and she is trained in first aid,” says the mother.
Outside of class, his parents, two physical education teachers, encourage him to move and develop like other children. "He's excellent at sports," his mother said. He skates, but does not play hockey to avoid contact. He was also on skis for the first time in the winter of 2020. “I like golf a lot. I played twice this year,” says Nathan with a smile.
“He’s a kid, so he plays like a kid,” adds Dr Borsuk. He has scars on his face and he doesn't care, he thinks he's handsome. He has an incredible joie de vivre,” he concludes.
An underestimated orphan disease
The Regroupement québécois des Maladies Orphanes (RQMO) is crying out for Ehlers-Danlos syndrome to be better recognized by healthcare establishments. In recent years, the organization has been overwhelmed by the growing number of requests related to the disease.
“It’s a very difficult disorder to diagnose,” says Gail Ouellette, president and scientific director of the Regroupement québécois des Maladies Orphanes.
Ehlers-Danlos syndrome, which is classified into 14 subtypes, is mainly characterized by skin elasticity, tissue fragility and joint hypermobility. “All the latest research and observations show that patients have much more than that,” says Mme Ouellette.
Symptoms vary greatly from patient to patient and few doctors know how to recognize the disease, she points out. Some patients will have chronic pain and many disorders of different organs or systems, including gastrointestinal, gynecological, vascular, neurological or urological.
When a person comes in and lists all the symptoms, the doctors don't know what they have.
Gail Ouellette, President and Scientific Director of the Quebec Association for Orphan Diseases
When we send them for tests, everything comes out negative. The only way to be diagnosed with the disease is to perform a genetic test. It can therefore take decades for patients to receive their diagnosis.
Over the past few years, hundreds of people fearing they might have the disease have contacted the Regroupement québécois des Maladies Orphanes.
“Normally, we receive less than 10 requests for each rare disease, but for Ehlers-Danlos syndrome, we received 674 in 7 years. It’s more than any other illness,” says Mme Ouellette.
The number of requests has also been growing in recent years. According to data obtained by La Presse, the RQMO received 129 requests in 2020. The majority of people were between the ages of 26 and 64 and wanted to take steps to obtain a diagnosis.
This increase is explained by an increase in awareness about this disease, says Mme Ouellette. “The prevalence of this syndrome was underestimated because it was, and still is, underdiagnosed. With awareness, more and more people suspect that they have this syndrome, and it is confirmed in most cases. »
Faced with this increase in requests, the Regroupement implores the government to assess the obstacles encountered by people with Ehlers-Danlos syndrome in the Quebec health network.
The Regroupement would also like to see solutions implemented in terms of diagnosis, management, prevention, research and psychosocial support, in particular through the establishment of a specialized multidisciplinary clinic dedicated to the disease.
