Gonçalo has 21 months and two rare diseases. Do not walk or talk, but your story is helping other children – Current

Gonçalo has 21 months and two rare diseases. Do not walk or talk, but your story is helping other children - Current

At 6 months, Gonçalo did a genetic test called a clinical exom or mendelioma, a panel designed to study thousands of genes. The diagnosis came a few days before 12 months, after 9 months to make the first visible fracture. Gonçalo suffers from Imperfect Osteogenesis and Ehlers-Danlos Syndrome. Two rare diseases.

Both are pathologies that affect connective tissue and originate from a genetic mutation that affects collagen, a structure present in bones, muscles, organs and joints. This genetic mutation is present only in two more cases registered in the world. The incidence of the two syndromes simultaneously is less than 1/1000000.

Osteogenesis imperfecta (OI) is characterized by fragile bones that lead to fractures almost spontaneously. This syndrome has several possible associated problems, such as blood vessels that break easily; bone deformities; growth restriction; lack of bone density; hearing loss (50% of those affected) or cervical spine prolapse, just to name a few.

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credits: Vânia Santos Photography

The Ehlers-Danlos syndrome (SED) mostly affects the muscles and joints and has as possible symptoms hypotonia; muscle injuries; displacement of joints; subluxations and dislocations; hypermobility of joints; button deformity; scoliosis; fragile and easily bruised skin; among others.

How did you get this diagnosis, Tania?

The diagnosis occurred a few days before the 12 months in June 2018. Gonçalo has a mutation in a gene linked to collagen, which causes Osteogenesis Imperfecta and Ehlers-Danlos Syndrome. For us it was a relief, because we had been struggling with uncertainty for a long time.

Having a name, an "entity" for which we could prepare, was a key point in our day-to-day life. Once our diagnosis is received, our research and work has turned to rare diseases, the inclusion of childhood deficiency, and the preparation effort that the syndromes require.

We believe that information is the way to inclusion and here we continue to make this path of dissemination

Can you describe preparation effort?

We had to learn to hold it, because we have to distribute the pressure of our hands through his body, lift it up the armpits and under the tail. The movements have to be all weighted and calculated. Constant vigilance is required so as not to be in dangerous situations. He tries to sit in W and we have to sit him right, because he already did a fracture like that. We had to learn to change the diaper because of the risk of fracture, we avoid tight spaces or with many people because a stronger pull can mean a dislocation …

At first, we felt lost, because we had no one to teach us how to deal with a child with the specifics of Gonçalinho. It is often difficult to explain to people who do not know us and begin to interact with Gonçalo in the street that a tickle in the feet or pull by the hand is enough to hurt him. Or if the person has had contact with an allergen, a touch on the skin is enough to trigger an allergic reaction. However, as we believe that information is the way to inclusion and here we continue to make this path of dissemination.

What are the limitations of Gonçalo for a 21-month-old baby?

Gonçalo has several limitations associated with syndromes and other health problems. It has to be guarded 24 hours a day because the danger of fracture or dislocation is very great. He does not hold himself alone or walk, as such he still has to be carried in his lap, because he no longer accepts a cart. All of Gonçalo's movements have to be done with calm and patience, which must be inculcated by us, parents. The very placement of hands and legs in the correct place must be supported by us, because, as Gonçalo has hyperlases, he ends, for example, by turning a foot too far or taking a finger off the site, which entails physical risks.

Regarding allergies, as you react not only by ingestion but also by touch and smell, we must avoid to the maximum being close to his allergens. Gonçalo's diet is extremely well defined because any food can be contaminated with an allergen and trigger an allergic reaction. Still in relation to the diet, due to the sensorial issue and the difficulty in chewing / swallowing, the food has to be all passed. The only solids that Gonçalo tolerates are special crackers and raw carrots.

As for respiratory distress and apnea, when it is more clogged, we must watch his sleep more closely, for he often chokes and has difficulty breathing.

Some photos of Gonçalo and the family

Caring for a baby with this diagnosis requires living in a constant state of alertness. How is the management of your day to day life as a country?

Our day to day life is spent in hospitals, between consultations, exams and therapies. Gonçalo does several daily therapies and the only free day we have is Sunday. They are, if I am not mistaken, about 15 medical specialties that follow at this moment, which makes the agenda is quite fulfilled.

Every micro evolution is cause for celebration and this is what gives us strength as parents.

Gonçalo, as a cognitively typical child, is already beginning to realize his own limitations, which triggers some frustration in him. He wants to do what other boys do and can not or can not. Because he does not speak, he can not communicate what he wants, which turns out to be another source of frustration.

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Goncalo on father's lap credits: Vânia Santos Photography

Everyday life demands constant management of expectations. As much as we try to focus only on our little boy's victories, it is inevitable to look at children of his age with typical development and to think about the difference that still exists. However, each micro evolution is a reason for celebration and this is what gives us strength as parents. Gonçalinho's smile, his good disposition, and his sympathy turn out to be the force that moves us.

In the case of diseases in which little is known, how is your relationship with health professionals?

We have received tremendous support from the team of doctors, therapists, nurses and administrative assistants. They are fantastic professionals, concerned and available. They listen to our concerns and always try to reassure us, but they never devalue our opinion. I truly believe that Gonçalo would not have gotten so far if it had not been for them. Gonçalo is currently followed in Braga, Coimbra and Porto.

What is Gonçalo's prognosis?

Gonçalo's prognosis is unknown, nor are attempts to set goals. The goal is to gradually work their development. For example, we do not know if, how and when to walk (if you are going to need walking aids, for example). It's an unknown.
We know that, for example, you have to avoid contact sports or stress. We know you will have certain health problems associated with it (fractures, hypotonia, hyperlases, hearing problems, heart and respiratory problems). We have no idea how long you will have to evacuate certain foods or if allergies will disappear in the near future. It is still early to know what the future holds for us.

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Goncalo with the parents credits: Vânia Santos Photography

Have you received support from other parents of children with rare diseases?

At first we did not know what this world would be and we ended up receiving a lot of support in international groups about hypotonia (the great symptom of Gonçalo, when we did not know anything else) and later on the syndromes. Then we end up becoming this support, because of the immense research, experience and time to navigate the entire bureaucracy in this world of rare diseases. Currently, on the Facebook page of "Mundo do Gonçalinho" I am reporting our daily life and trying to pass information to other parents and society in general.

What was your goal when you created the facebook page?

The page aims to make known the reality of rare diseases, disabilities and allergies and to support other parents in particular. It arose because of the amount of information that I have collected and stored, not only at the level of diseases and allergies, but also at the bureaucratic level, of research, among others.

The main goal is to demystify this world so unknown to so many people.

SAPO Lifestyle appreciates the transfer of photos to Vânia Santos Photo.

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