Affected by the VPS13D

Mark R. Trenta

You are welcome. When my young wife and I began our journey through the dark world of an unknown disease it was frightening. There were no answers and what doctors told us was usually wrong. There were times the stress was unbearable, but our 2 children made the fight worth it. There were times we cried. Nobody should have to bear this, but we fought not knowing if or when any solution would appear. After all these years we now know VPS13D, and it is incredible to meet the family of someone who will benefit. We are happy for you and excited for Chloe and any other children who have a chance at a normal life.

Léane

Leane is our first daughter, she was born December 9th, 2001. She is a beautiful girl. Everything seemed normal until she reached 9 months and we began to wonder why she wasn´t evolving as other babies. Her postures were different and she had difficulty sitting, her hands were clenched, she had a tic in her mouth and lack of muscle tone in her back. However, since she was a cute baby girl, smiling all the time and generally in good health we were told that nothing was wrong.
It was her difficulties standing and walking that led us to seek out a neurologist in October of 2003. Leane was 18 months and we were told that she did in fact have a disease affecting her. Which one? Nobody knew, nobody knew if she would ever walk or what would happen… The doctors couldn’t tell us anything.
That was when the whole world fell on us, but love gave us strength to take control and search for answers. The hope of finding a cure became the principal objective of our lives. We HAD to find the cause and cure her disease.
Since that day we have done great amounts of personal investigation and Leane has suffered through many medical examinations. Painful interventions like spinal taps and electrograms and MRI´s, Scans, countless blood tests and more… No relevant results ever came. All we knew were the symptoms Distonia, Hipotonia, Spasticity…
This investigation process and results were so long!! The years passed and we alternated between intense investigation and rest feeling alone and impotent.
We are trying to understand better what is happening, we hope for answers and have visited many different doctors in many cities looking for answers. We tried alternative medicine, a curer. But we have to conserve her energy to face the day to day. Physical and Speech therapies, ocupacional therapy, schooling and its difficulties, her needs as she developed first in public school until middle school and then in a specialized center for physically handicapped children. Sports activities, administrative procedures, team activities….
All this effort, energy and love hasnt stopped the progress of the disease and we have to adjust constantly to her changing needs as Leane deteriorates…. Leane never walked (wheelchar since 5years) Until she was 10 she spoke slowly with difficulty but she was able to feed herself. She could write and wash her hands. She wasn´t ever in great pain or suffering from other associated issues. However, the years pass and the disease progresses and now she can’t speak and uses a voice synthesiser, she needs us constantly for all her daily needs (toilet, meals, dressing…) and its hard for her to swallow.

Inb December of 2015 our geneticist Dr Munnich from Necker Hospital in Paris finally identified the mutation in the VPS13D gee that was causing the disease of our daughter. We felt a strange sensation of happiness to know the cause and fight it but at the same time being told its an unknown disease and there is no treatment.
It turned out to benefit us as not only are we stronger together we find solace and hope in the community of VPS13D sufferers. Our daughter is 17 now, still beautiful, smiling, intelligent, brave and happy in spite of her handicap. Every day she gives us the courage to keep fighting.
Its for her and the other children who are affected by this genetic anomaly… They take us and show us what life is about and for them we will fight to the end.

Céline and Thierry

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