Living with Osteogenesis Imperfecta and Ehlers-Danlos Syndrome

The story of Tânia Vargas

Parenting is a journey that no one prepares you for, especially when we’re parents for the first time. We can read many books, learn many theories, but when it comes to practice, reality is very different. When you add severe allergies and two rare diseases (that even some health professionals don’t know about) to this mix, we enter uncharted territory.

In July 2017, after an emergency caesarean section, Gonçalo was born. Less than 24 hours later he was admitted to the NICU, where he remained hospitalized for a week due to jaundice and other issues. During this week he didn’t eat properly, was very floppy and in general had the appearance of a tired baby. However, in my inexperience as a first-time mother, I thought that after fixing these issues, everything would be fine. Gonçalo ended up leaving the NICU referenced for further examinations, because something wasn’t normal. At 11 days, we hear the word hypotonia for the first time. Our baby had severe hypotonia. Hypotonia is the lack of muscle tone (“tension”) and although it may be associated with lack of strength, they are different things. I usually use an example that I think illustrates well what hypotonia is – imagine yourself with two cooked spaghetti as legs. After the first step you try to take (if you can), you fall, right? In a way, this is hypotonia.

With one month of age, in August of 2017, after countless exams – that would continue for months – Gonçalo began physiotherapy. He never stopped. Later he started occupational therapy, speech therapy and swimming as hydrotherapy. Presently, he does 2 therapy sessions per day, every working day and a session on Saturday.

Over time we discovered new health problems. First the hypotonia and then joint hypermobility (joints leave their correct place / move and stretch very easily) and later the bone fragility. At 3 months we confirmed that Gonçalinho was severely allergic to cow’s milk protein when he had an anaphylactic shock. We later discovered that he was also severely allergic to egg and soybeans and moderately allergic to wheat. Then we also discovered that he had sleep apnoea and had some sensory processing difficulties. During this time, always doing therapies, we went through extensive genetic tests to determine why he had so many health issues. The first visible fracture of Gonçalinho happened at 9 months. Completely taken by surprise, we came to realize that it had been an almost spontaneous fracture (didn’t have a direct cause) during one of the therapies. Later we discovered that possibly Gonçalo already had a fracture when he was born. Other fractures followed. Through extensive genetic examination – Whole Exome Sequencing – we found that Gonçalinho has a genetic mutation that causes two rare syndromes: Osteogenesis Imperfecta (OI) and Ehlers-Danlos Syndrome (EDS). The mutation itself is only the third registered case in the world. A few days before he turned 1 year old, we had our much-desired diagnosis that ended up bringing more questions than answers.

EDS “… is a rare connective tissue disease that causes unusual flexibility of the joints, very elastic skin and fragile tissues.” (1) OI is “… a group of rare genetic diseases characterized by brittle bones and teeth. The severity of the disease depends on the genes involved. (…) Patients with this disease are born with a problem (mutation) in the formation of collagen that is an important component of bone structure. Some children with OI are born with fractures, suffer from deformities, and do not survive to adulthood. Those that survive, can suffer several fractures (…). Fractures can occur even without apparent cause. (…) cognitive, sensory and emotional capacity is normal. ” (2)

These two syndromes have no cure. They cause almost spontaneous fractures, hearing loss, chronic bone and muscle pains, constant fatigue, cervical collapse, muscle injuries, bone deformities, heart problems, delayed motor development or motor incapacity, among many other things. In addition to this we have the severe allergies that cause a reaction even if Gonçalo only touches or inhales the allergen – he does not need to ingest it / eat it.

As parents, we need to be hypervigilant. A fall, a poorly planned activity or even playing in the same place where other children have been eating is a cause for concern, whether due to fracture, muscle damage or an allergic reaction. We have to avoid or adapt contact or stress sports because of the increased risk they bring. Unfortunately, as these two syndromes cause motor impairment, Gonçalinho’s motor development is delayed. However, at the cognitive level he is a typical boy. Our dream and desire as parents is that Gonçalo can achieve a full life and that his limitations never prevent him from living a normal life. We also dream that society becomes more tolerant and does not exclude children with “different” problems.

As we believe that the path to inclusion is through information, we have created a page for Gonçalinho, which can be seen at www.facebook.com/mundogoncalinho. In this page we try to help other families by sharing relevant information.