The rare genetic disorder that means Chanochi can never eat

By Andrea Kon, October 7, 2011
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Two-year-old Familial Dysautonomia sufferer Chanochi Pearl is fed by means of a tube.

Two-year-old Familial Dysautonomia sufferer Chanochi Pearl is fed by means of a tube.

Lying on his back, arms above his head, tumbled golden curls against his pillow, tiny Chanochi Pearl looks a gorgeous, healthy toddler. Until, that is, you notice the oxygen tubes in his nostrils, filling his damaged lungs, and the bottle of liquid by his cot plumbed to a plug in his tummy, pumping his body with essential nutrients. Two-year-old Chanochi was diagnosed with Familial Dysautonomia (FD) at the age of five months. It is one of some 20 known genetic disorders that specifically affect Ashkenazi Jews.

At 20, Natasha Jacobs is having fun. She also has FD. All her life she has needed a trained assistant to help with her special needs. Yet she went to mainstream schools, first Broadfields Primary near her home in Edgware and later JFS. Like most other girls her age, she has a boyfriend, John, a busy social calendar and loves theatres, films, music and family holidays.

"I met John at work and it's serious," she says, her face glowing, brown eyes beaming. Twice a week, she works as a volunteer at the Aspire Centre in Stanmore, where John, who also suffers from a disability, works four days a week. Natasha maintains an active lifestyle despite her inability to eat or drink. She must be tube-fed every three hours, as well as overnight like Chanochi, and currently needs a wheelchair.

"FD used to mean lots of hospital admissions. Now we manage at home," says her mother Rosalind Jacobs, who has chaired the Dysautonomia Society of Great Britain for several years.

The Jacobs and the Pearls are two of 17 known sets of parents in the UK currently coping with FD. Yet when their children were born, albeit 18 years apart, neither knew anything about the condition.

Chanochi's parents are Ian Pearl, a 44-year-old solicitor, and Jane, 38, a trained nurse and midwife, from Edgware, who explains: "Everyone is aware of the genetic disorder Tay Sachs. However, although testing for FD is just as simple, people don't know about it. Yet the odds of a couple both having an FD child are one in 3,000, exactly the same as for Tay Sachs."

Familial Dysautonomia - the facts

● One in 27 Ashkenazi Jews carries the Familial Dysautonomia gene. Both parents need to be carriers of the defective gene and there is a 25 per cent risk for each pregnancy where both have been identified as carriers. Since 1970, we have learned of 655 patients world-wide.
● Symptoms include failure to thrive, feeding and respiratory problems, floppy limbs and a tendency to blotchy skin and profuse sweating in new-borns.
● In 1970, a child diagnosed with FD had only a 50 per cent chance of surviving beyond five years. Today, a child with FD has a 50 per cent chance of surviving more than 40 years.

Chanochi was born by emergency Caesarean six weeks prematurely in August, 2009. Ian recalls: "As a midwife, Jane knew instantly that something was wrong with Chanochi. His limbs were very floppy, he had difficulty feeding and he wasn't thriving."

Jane adds: "He wouldn't suck. He went blotchy, sweated profusely and when he was two weeks old, he started to reflux so severely that it couldn't be controlled even with medication.

"When he was three months old, he stopped breathing during the night three times in a single week. Each time, we called an ambulance. Twice, they sent us home. The third time, I gave him mouth-to-mouth in the hall before the ambulance arrived. He was admitted. While they did tests, a friend told us about a relative's child born with similar symptoms who had been diagnosed as FD. It was the first time we'd ever heard of the condition."

The Pearls asked the consultant caring for Chanochi to take a fresh look at his case. After a battery of new tests they had their diagnosis when Chanochi was five months old.

The Pearls contacted Professor Felicia Axelrod, a world expert on FD, based in New York. "She advised us on management of his condition. She works with doctors in a number of British hospitals as well as in conjunction with Professor Channa Maayan, who is researching and advising on FD at Jerusalem's Hadassah Hospital. The DSGB fund pays for Maayan to visit the UK annually to hold a clinic for all British FD children, their parents and their medical teams here.

Both professors have also been involved in managing and advising on Natasha's condition. Natasha was 14 months old before she was diagnosed.

"When she was an in-patient at great Ormond Street, Natasha had a sore mouth, and one of the nurses took her to see the hospital dentist. Luckily for us, the dentist had seen it all before," says Rosalind. "When I returned, the nurse looking after her just handed me a manual about FD."

Children with FD need a team of doctors and therapists to manage and support them. Both Natasha and Chanochi need physio and occupational therapy. Chanochi is also having speech therapy. Because of the multitude of symptoms, they need care from eye specialists, orthopaedic doctors, gastroenterologists, chest consultants, urologists and cardiologists. Both have needed surgery to correct the reflux that is present, even with gastric feeding. It is exhausting work. The Pearls have found it almost impossible to find respite care. "Asking someone else to care for Chanochi is asking an awful lot," says Jane.

Unlike Natasha, Chanochi has never been able to eat or drink. "He is orally averse," Ian says. "There is a broad spectrum of severity in this disorder and Chanochi's is certainly not a mild case."

Natasha was able to eat small amounts until a few years ago. She says: "The only thing I really miss about eating is the social aspect. I'd love to be able to go out for dinner with friends. I enjoy sharing in all the traditional Jewish family gatherings, even if I can't drink the chicken soup."

For more information on Jewish genetic diseases visit www.jewishgeneticdisordersuk.org. To contact Rosalind Jacobs at Dysautonomia Society of Great Britain, call 020-8357 0038 or write to PO Box 17679, London NW4 1WS. Jeans for Genes Day takes place today (Friday October 7). Get your free fund-raising pack at: www.jeansforgenesday.com

    Last updated: 10:23am, October 7 2011