Charles Antoine made an entry to this world a month ahead on august 25 th 1996 when 75 people were attending his parents' baby shower…they missed. Weighing 5 pounds 3 ounces he was the biggest premature baby of the hospital and the most beautiful thing that never happened to his proud parents. With an 8-9-10 “apgar” test result, we couldn’t expect to live the kind of life we are used to now.
The first weeks were doing fine until mom realized she had difficulty breastfeeding. Charles Antoine is 4 months old and being examined by an intern. Consternation brings a series of doctors and interns around him. Is there a problem we ask, being put aside and told to wait?
The cardiologist informs us that our 4 month old son has a major cardiac problem (co-arctation of the aortai and bicuspid valvei) and has to be operated for the coarctationi in two weeks but that’s not the worst. The cardiologist asks if we have been told that our son has a development problem. From then on, specialists (physical therapy, ergotherapy, speech therapy) and hospital visits to series of tests and therapists and health professionals for years to go.
With a lot of patience, work and perseverance, Charles Antoine finally started to walk at three and a half years old despite a hypotonici condition. He started speaking just before going to school at 4 years old. We were told at that time that his development problem was in fact a mental handicap for which there was no medical explanation, the case for many other children apparently.
A happy child, he showed early on an interest for music. Starting specialized school, he conquered a lot of hearts by a happy nature and a particular interest in adults. His physical features (the characteristic oriental eyes of the Kabuki: long and curved eyelashes and almond eyes,) often made him the favourite. He also has other physical features from Kabuki: hypotonia, flat feet, stubby ends of fingers.
He was always loved by our families and returned the affection. Learning slowly and surely, he played ball and has since began kicking a soccer ball. As very sportive parents, mom was happy to teach him downhill skiing, swimming and dad ice skating, even with a hockey stick! He can dress, eat, play and do all kinds or stuff by himself but his fine motor skills doesn’t allow him to put on shoes or boots for example.
After years of normal tests results (CT scan, magnetic scan, EEG, caryotype and so on), and after being told to stop looking because we wouldn’t find the reason for Charles Antoine’s condition, a second opinion from a specialist in genetics came when he was 5 years old: “Kabuki syndrome”.
At five years old we tried to boost his immune system and general evolution by trying hyperbaric treatment in a private clinic in our home town. The idea was to increase the oxygenation to help the brain and neurological system. Everyday for 4 weeks we accompanied Charles Antoine with 5 or 6 other children and parent in a hyperbaric chamber big as a small submarine.
It was a family experience that brought us together and showed signs of progress: better reaction, better sleep…) Was it the placebo effect or real progress from that kind of treatment? We will never know. However we don’t regret the experience.
Cuba as a treatment
He has travelled with us to Cuba half a dozen times preferring the sun and the beach to our cold and long winters. Winter trips during school break has surely helped heal numerous colds and ear infections for which he’s used to due to his weaker immune system.
When he was around eight years old we met a charming little girl that was diagnosed with the same syndrome. She gave us quite a deal of hope. She was in regular school with a tutor, was able to speak and communicate very well. Her intellectual handicap was light and not as severe as Charles Antoine. Everything was possible from then.
Intellectual handicap and other physical problems
His intellectual handicap is the most severe challenge. Being 13 years old now he has the mental development of a 3 year old in general. He cannot read and we don’t know if he ever will. He looks like a 9 year old boy physically. Having an immune system that was frail he has had quite a few viruses and colds but all in all he always recuperates well. He has tubes in his ears to eliminate ear infections and a deep palate that has reduced in the past years. He is in fact lucky not to have other serious health problems that usually affect other children with kabuki like the ones described in literature and in the Kabuki journal. In spite of his mental disability which is considered “medium” his physical health is good. He doesn’t take any regular medication. His heart condition is great and the bicuspid valve won’t be a problem apparently for a long time.
Talents and …
Musically inclined, he sings songs of a wide repertory going from “Andrea Bocelli’s’’ con te partiro” to “Céline Dion” that he loves. For his 12th birthday,we brought him to a Céline Dion concert that left him in awe. He plays the piano with one finger but is able to play a variety of songs by ear. He speaks clearly and loves to do the conversation.
Above all he is the pride and love of our life. He is our only child but we enjoy every moment with “our little treasure boulette” even though these days he is a “tornado”.
We wish to thank the Kabuki network and in particular Margot and Dean, for the support and feeling that we are no longer alone in this continual struggle where services and elementary information on such a pointy subject is all to often not available. We both are very active with Foundations and School committees but the Syndrome being so particular it’s a comforting feeling to be part of the network. Thank you again for the chance to present our son and our priority in life. We wish you all the best and may all our children become the best that they can.