It is not easy to explain 15 years of our lives, full of unanswered questions. We hope in all sincerity that our son’s journey through life to date will give to all the young parents faced with this syndrome, the assurance that, in spite of a harsh diagnosis, it is possible to combat and win, to progress positively in the fight, against this disease.
The Marinesco Sjögren Syndrome is composed of numerous symptoms which greatly affect the development of the child who suffers from it. So, for the last 15 years, we have endeavoured to find the treatments best adapted to the symptoms, unable as we are to treat the cause (origin).
At 3 months old, Sylvain did not make eye contact and lost interest in his toys very quickly. He slept a lot, even through feeding times. His food often went down the wrong way. At 6 months, he still could not hold his head up nor sit up. He suffered from general hypotonicity. Nevertheless, he was cheerful and happy, smiled a lot and was very attracted by electric light. He played mostly with his fingers leaving his toys aside. He had a scoliotic position and, so it was said, a congenital wryneck which were corrected thanks to physiotherapy. He consulted several doctors and up to a year old we had several tests done which revealed nothing in concrete terms (an echography of the fontanelle, a brain scan). We got no diagnosis for 3 ½ years.
Sylvain has had physiotherapy since the age of 6 months. 3 times a week in the home and we spent the first 3 years of his life stimulating his awareness (by games, music, stories, songs, painting, plasticine) and adapting a play-pen with foam mattresses to incite him to move, roll around and even fall without hurting himself. At 9 months old, he attended a day nursery 2 afternoons a week. His physiotherapist made him a plaster bucket seat and from then on, he had greater pleasure in discovering the toys he was given. Then he had a corset to hold him in an upright position where he spent an hour and half every day.
Sylvain then managed to slither along on his tummy using his legs and his head. He could not use his arms or his hands at all. At 18 months, he was able to stay sitting up and managed to sit up alone when he was 3 years old. He was toilet-training day and night from the age of two. He ate normally althrough he had difficuty in chewing for the first 2 years. He was able to get around on his bottom. He had psychomotricity sessions in a swimming pool. He adores the water.
At this stage, he was easily angered and capricious when he wanted something he could not reach on his own. He screamed a lot (a strident shriek) and did not talk. At the age of three, he could say Papa, Ma (mam) and eee for Thibault (his brother). He gabbled a lot and was difficult to understand.
Then at the age of 3 ½, he developed cataracts. We decided to go to the
Necker Children’s Hospital in
We were given the diagnosis without any explanation of what it meant. "Rare genetic desease" - that was all. Later, aged 4, Sylvain had an M.R.I. which revealed partial atrophy of the cerebellum and explained the disorders of coordation and balance. He had another M.R.I. when he was 10 which revealed no worsening of ataxia of the cerebellum.
Sylvain has worn contact lenses since he was 4. He was in normal infant school and then, since he was 6, he has had therapy and teaching at specialised institute in Marseille (France) where we have lived for the last 10 years.
There were only 24 hours in a day and we no longer had the time or the energy to keep up the rhythm of the first 6 years of his life. Also our older son Thibault needed our attention. Supervising Thibault’s homework while waiting for Sylvain to finish his therapy (physiotherapy, psychomotricity, speech therapy, occupational therapy- manual dexterity) was a marathon. It was no longer possible.
Since 1997, Sylvain has a treatment of synthetic growth hormones. He was only 1m 20 tall at the time. He is now 1m 44 tall with a weight of 29 Kg. He has therefore started to grow again. Furthermore, his bones were very fragile ( he had multiple fractures of the arms, elbows and wrists due to falling). Since the beginning of the treatment it seems that his bones are stronger, he has not broken anything in the last 4 years.
The years have gone past in a hectic rhythm. Throughout these years, Sylvain had made progress both on the physical and intellectual plane. We have always tried to optimise to the utmost his capabilities. We have been very fortumate to have the support of qualified professionals working as a team with Sylvain : teachers and educators working alongside and with doctors and therapists. We are totally convinced that the quality of care comes from team work, professionals in all spheres willing to listen to the children and their parents, and this as soon as possible (an early diagnosis).
At home, Sylvain can walk a few steps alone and then holds on to the
furniture to get around. We have arranged the house to make life easier for
him: the bathroom with a walk in shower, access to the outside on the level,
no steps and ramps for entry and exit. Today, Sylvain is not completely
autonomous for walking as he is greatly handicapped by his ataxia. However he
dresses, eats, washes and goes to the toilet on his
own. His speech has greatly improved, he reads
out loud fluently and can write, thanks to his computer keyboard. He is now
in 6° (1st year of secondary education) on a correspondance
course from the CNED (Centre National d’Enseignement
To get around he uses a zimmer or a wheel chair according to need. He goes to a swimming club and does horse riding with friends of his age. He also goes climbing at the therapy centre. He goes every year for a fortnight to an integrated holiday camp which he enjoys immensely. He likes the cinema, video games, music, and photography and is passionate about dolphins. He is sensitive, cheerful, and smiling, very sociable, he loves life!
We have had ups and downs all through the years. Sylvain has notably helped us to relativise the downs. What is his future to be? We do not know. We keep on going, step after step beside and with him, helped as we are by friends and support from different sources. This is in a few words our son’s itinerary for the last 15 years.
We hope that this site will help to make this affliction known, for in
this way we will be better able to fight the disease, care for the sufferers
by intervening as early as possible and accompany families who do not know
where to turn. We also hope it will be a source of exchange and
information for all those affected in whatever way by this syndrome.