400,000 patients in Switzerland suffer from rare illnesses, eighty percent of which are hereditary. None of them are curable. The Telethon solidarity campaign helps affected families: with contributions towards medical aids which are not or only partially covered by disability insurance, through social commitment and with investments in research. This year's ambassador family for Telethon, the Bossy Family of Marsens (canton of Fribourg), is also affected: the son, Romain, suffers from a hereditary disease. His mother, Lise-Marie, tells us what this means for her family.
The Telethon ambassador family for 2015: Lise-Marie and Stéphane Bossy with Noémie and Romain
"Romain has never been able to walk. His muscles are actually healthy, but because the nerve impulses do not function correctly, they don't work the way they should. That is why Romain has only moved about in an electric wheelchair since his third birthday.
It was a long time before we found out that our son was suffering from a hereditary illness. He was constantly ill as a baby and toddler and was frequently admitted to hospital. "A virus; nothing serious," we were always told. When he was nine months old, I took him to our paediatrician for a check-up. "Come again? Your child cannot sit up yet?!" he asked in amazement. He said Romain was probably a bit sluggish and he needed to be asked to do things. He sent us to a physiotherapist. However, she soon noticed that Romain wasn't lazy but simply incapable. For example, he never reached out to try to grab the baby mobile above his cot. "Not because he doesn't want to," she explained to me, "but because he cannot do so." Since Romain had trouble with his hips, the paediatrician advised us to consult an orthopaedist. He opined: "It is still too early. Come back again when he can walk." That is what I have been waiting for to this day …
Only healthy patients please
After Romain had once again spent an extended period in hospital and nobody could explain to us why this was the case, I lost trust in our paediatrician and looked for a new one. A young paediatrician asked me on the phone if my children were healthy. I responded by saying: "My daughter is, but my son has a motor disorder which nobody can explain." He said: "OK, I will take the girl but not the boy." That was out of the question for me. Either both of them or none of them. The next paediatrician I asked suggested that he could give the boy a comprehensive check-up. He was given a huge file from our previous paediatrician on Romain's medical history and initially didn't know where to start. However, he pushed ahead quickly. He proposed doing an MRI scan of Romain's brain and spine, in order to rule out a tumour. As nothing was found, he sent us to the University Hospital of Lausanne. They finally found out what Romain is suffering from: spinal muscular atrophy type 2. He was already 18 months old at that time.
Double genetic defect
My husband and I had completely different reactions to the diagnosis: his whole world fell apart, whereas I said: "Finally!" This illness finally had a name. The doctors at the hospital explained to us how it would change our lives. "You will become specialists in this field," they predicted. We went home and thought that our lives would now instantly change from one day to the next. However, the following day was just the same as always. We only gradually learnt to live with the illness. We had of course not known until then that both my husband and I carry the defective gene for this hereditary disease. Our first-born child, Noémie, is as fit as a fiddle. There was a one in four chance of us having an ill child …
Normal school with a carer
I do gymnastics with Romain every day. The physiotherapist showed me how to do the exercises. In addition, Romain has to have physiotherapy twice a week, ergotherapy once a week and speech therapy every two weeks. Twice a day, he needs to use a machine which helps him to stand. He attends the village school, accompanied by a work placement student who is completing a career-orientation year in social professions. The work placement students change every year. That is a problem, because they aren't all equally empathetic and skilful. And although the Department of Education pays their salary, we have to train them ourselves. The work placement student makes sure Romain is sitting comfortably in his chair or helps him to use the standing machine, puts his jacket on and takes it off for him, removes the lid of his felt-tip pen or accompanies him to the toilet. All of these things must be done nice and carefully, because Romain's bones are very brittle. We are grateful that our son can attend a normal school. Normal school is the only type of school he is familiar with, and he sees himself as a normal child. And we also consider him a child like any other.
A bit of normality thanks to a balloon ride
One of the hardest things for us is anxiously waiting for decisions of the disability insurance, i.e. approval of the costs for medical aids like Romain's orthoses or his back support brace. Since he is growing, we regularly need a new one. When the disability insurance guidelines are amended yet again, it is not always so easy for us to understand …
However, we do of course also have some highlights, such as every time we have the feeling that we have a family life like everybody else. For instance, this could be during an outdoor excursion – such as a balloon ride over Lac de Gruyère which Telethon paid for us to do as part of a summer campaign – or during a day's skiing. Thanks to a special device which we always hire, I can ski together with Romain. A day's skiing with all four of us is a pure delight for us all."
Text: Daniela Diener