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Ornella, the most marvellous treasury to fight for
Daniel's story

Ornella, the most marvellous treasury to fight for

This has been a very special day. We will never forget this day. The black Thursday. The 28th of July 2005. One day before driving summer holiday. One day before being with Ornella again, our 6 months old sweet daughter, our first baby. Ornella was already there with Gad’s parents, expecting us to come as soon as possible, with many dreams and many “first times” in perspective: first time to go to the beach, first time to breathe the seaside air, first time to listen to the gulls. We had rent a snug and cosy house and were really eager to share this first summer altogether. This day, I was having a lunch with my Mum, when my mobile rang. It was raining so much this day. Gad, my husband, told me: “Professor X has just called. He wants to see us by the end of the day.”

A couple of weeks before, at the 5th month visit, our pediatrist had decided to have us perform a number of analyses. Through a clinical exam, he was noticing for the fourth time that Ornella had a slightly enlarged liver. This might be very normal for a newborn, he said, but he was anxious anyway. Experience and intuition were already telling him that Ornella might have something wrong but we did not know it. So we went through the analyses with some anxiety though not to heavy.

The first outcomes in July were very good. So much that little by little, our primary fears turned into hope and confidence. On July 28th, even though we were still expecting the results of urine samples analysis, we were very confident that everything was going to be all right. Urine samples would just bring us a marginal confirmation that Ornella’s health was at its best, we thought. We did not have to worry about it! The only thing we really had to keep in mind was that we were going to spend the most wonderful summer of our lives! And that is exactly what we did have in mind this very special day.

Future told us that we were actually going to enter the most frightening time we ever lived. What has followed Gad’s phone call resembles a long black tunnel. Gad picked me up. Suddenly, we had become intensively anxious, nervous, and a primitive fear had overwhelmed us. It was raining again. Our appointment at the hospital was at 5.00 am. We had a good couple of hours to spend, during which we just kept on talking to kill the beginning pain. After this interminable afternoon, we entered the hospital, and after a fairly long time, were invited to proceed to a simple and sad office. Professor X was sitting there, with empty indifferent eyes. He made a brief and rather obscure introduction. Then, he went to the main issue, and struck us with a litany of scientific issues concerning Ornella: her blood, skeleton, retina, and eventually, urine samples. The conclusion of all this, as far as we could understand, due to our own limited knowledge, was infernal. Ornella had just been diagnosed to suffer from a mucopolysaccharidosis Type III A, otherwise known as Sanfilippo disorder.  

This disease occurs with a prevalence of 1 to 50,000 births, the Doctor said. Clinically the disorder is progressive and the diagnosis is usually made at 2-4 years of age when the children show upper airway obstruction, progressive deceleration of mental capabilities, hyperactivity, loss of speech … As the disease progresses the children become increasingly disabled, both mentally and physically. The majority of affected children die in their second decade at the best. With Ornella, the diagnosis was set up with an utmost precocity, but nevertheless, no cure was to be expected at this stage and for the next coming years. There is nothing to say. For us, and for all the families that have to face such diseases, it is like being expelled directly to hell, with no good reason for that.

The following day, Gad and I drove to Normandy, making innumerable stops due to crying eyes unable to see. The moment when the door opened at our parents’ was the hardest of our lives: Ornella was here, so much present, welcoming her parents with an adorable surprise and smile and a glance full of hope and innocence. I will never forget this very moment. Gad and I were crushed. But seeing Ornella’s hope in life gave us the strength.

For seven years, my beloved husband and I have been sharing numerous and intense moments of love, happiness and intimacy. Now, together with our families, we have to share the unbearable fear and pain to be the impotent  witnesses of Ornella’s decline.

To win against the Sanfilippo disorder, we decided to build a deep knowledge of the disorder mechanism, stimulate the research dedicated to the mucopolysaccharidosis III, unify our experiences, strengths and know-how, and make the best out of them. That is why we created the Alliance Sanfilippo.

The Alliance Sanfilippo is a patients’ organisation, non-profit, non governmental and non political. The headquarters are based in France. The Alliance Sanfilippo though has a vocation to act without distinction of geographical area. It has a single objective: to defeat the Sanfilippo disorder. To do so, the Alliance Sanfilippo commits itself to unify and help the patients and their families, raise funds to sustain the research and undertake any action that has a chance to facilitate the fight against the disease.

Ornella, Gad and I look forward to acting with you,

Ornella, Karen & Gad

Daniel's story

Always chatty, always asking people questions on the tram and bus, Daniel was so friendly and smiley that people told us how wonderful it was to meet a child who would talk to adults like this. At the age of 2, Daniel was bright and intelligent, able to do more things than many children his age. He loved music and stories.  He flirted with his big brown eyes. A real character.  Only one thing worried us a bit his speech was not clear.  We were told speech therapy would help and just use English with him for now, as Daddy was speaking his native Swiss German too with Daniel.

By 4 years old, Daniel ran everywhere and didn’t listen too well, but speech was coming along nicely and he was learning all the letters, drawing and counting. He was probably hyperactive.

As we moved to Switzerland, Daniel started Kindergarten and suddenly we were told he had some delays and was very difficult to manage.  His social skills weren’t typical for his age. He wouldn’t be ready for normal school!  So he started speech therapy again in German.  Then a special clinic would help him fit into some sort of school.  We were very upset by now.  He had always been so bright and eager to learn.  He had had plenty of opportunities to play with others in England but now here it didn’t seem to work! Was it the problem of two languages?

We sent Daniel to an English speaking school.  Again he made progress and with the help of Ritalin and a special diet he was calm enough.  But gradually he needed more and more assistance in school. He so wanted to play with others but couldn’t seem to understand the rules! By 2nd grade there was no way he could learn like others in the class room.  More tests showed he had dyslexia and probably aphasia.  He had learnt to read a little and write a few words.  He was exceptionally good at jigsaw puzzles and could play simple games on the computer. When he was 8 and 9, I began to realize he was forgetting the names of people and he could hardly write his name anymore.  What was happening? He started at a special school, but now this had to be in German.  He started to have tantrums. He wouldn’t stay sitting. He was frustrated. He started to have more and more toilet accidents.

At last we went to the hospital for major tests when Daniel was 10. At once a metabolic storage disease was suspected as they found his liver was enlarged. There was no damage to the brain. There might be a treatment. Our hopes soared.  But then we waited and waited.  All the storage diseases with treatment were ruled out.  Finally after 8 months we heard, Daniel had Mucopolysaccharide disease type III (Sanfillipo syndrome).  No cure just some research that might be ready in 10 years.  The prognosis was deterioration, loss of speech and understanding, extreme behavioural problems, inability to eat, swallow, sleep problems, epilepsy, loss of movement etc.  Fatal somewhere between 14 and 20.  It was unbelievable.

So we fought to keep Daniel fit and as well as he possibly could be, and prayed that a cure might be found. The most heartbreaking thing was watching him lose his speech. He would start a sentence and then stop confused trying to remember a word but it wouldn’t come. He now mainly repeats phrases and can only concentrate on things with no distractions and with a lot of help. He needs assistance through all the daily activities.  He no longer goes to the toilet by himself.  But, he’s doing relatively well. He can swim, ride a horse, feed himself, walk long distances,  and still do simple puzzles. He laughs a lot and, thankfully, still sleeps well. People are confused because he looks so normal yet is so handicapped. They can’t understand it.  And neither do we. Our lovely little boy, with so much hope, vitality and potential is slowly fading away.

Alliance Sanfilippo - BP 88 - 92203 - Neuilly sur Seine Cedex France - Tel. + 33 6 14 03 84 87