Ashkenazi Jews run higher risks of developing eight life-threatening genetic illnesses. But a new website seeks to help
Rosalind Jacobs has a 17-year-old daughter, Natasha, who suffers from a rare genetic condition specific to Ashkenazi Jews. Familial dysautonomia (FD) causes a dysfunction of the nervous system and creates problems with breathing and swallowing.
It is not the only genetic condition particular to Jews. In fact, there are eight diseases to which Jews are more prone than the general population, ranging from Tay-Sachs, the relatively well-publicised disease of the nervous system, to the little-known Bloom syndrome, a growth defect in children.
Because these illnesses are so rare, it is difficult for sufferers and their families to get information, support or even the right diagnosis. Mrs Jacobs, 47, of North-West London, chairs the Dysautonomia Society of Great Britain, which helps her to keep in touch with the 11 other families in the UK whose children have also been diagnosed with the illness. “We come from all walks of life and different levels of Judaism, but it doesn’t matter,” she says. “We all work together to give our children the best quality of life that we can.”
Mrs Jacobs is concerned that not enough children are being correctly identified with the disease. She says: “Every baby who is born with a feeding problem should straight away be checked for FD. Most children don’t get diagnosed at all.”
She believes that there needs to be more information available for parents and medical professionals so that the disease can be diagnosed. “It’s very important that doctors understand, because they can be a little arrogant. Natasha had some of the top people looking after her at Great Ormond Street Hospital. They gave her good treatment, but her condition wasn’t diagnosed until she was 14 months old.”
It is possible to identify a child with Tay-Sachs if the parents have been screened beforehand to determine whether they are carriers for the disease. Symptoms usually appear in a baby at six months. Eventually, children with Tay-Sachs become blind and paralysed. There is no treatment, and average life expectancy is three to five years. About one in 20 Ashkenazi Jews are Tay-Sachs carriers.
Philip Koch and his wife Sheila lost two children to the condition in the early 1960s. Mrs Koch had another pregnancy terminated because doctors thought it was “fairer” to them than running the risk of losing a third child. Subsequently, Dr Koch went on to develop the screening method used today to detect Tay-Sachs carriers.
He says that, because of his screenings, occurrences of the condition have dropped by 90 per cent over the last four years. He currently knows of no sufferers, even though there is a one-in-four chance of a child being affected by the disease if both the parents are carriers.
“There was no awareness in 1959. There was no diagnostic procedure,” says the 79-year-old doctor. “The first child we had was a boy. He’s still fine at 49. He’s a carrier. Then we had a girl. She had Tay-Sachs. And our third also had Tay-Sachs. It was devastating. There was no counselling and no knowledge about what the disease was. It’s extremely traumatic, especially when you don’t know much about it — I didn’t, even despite my medical background.”
Now there is an initiative to give sufferers and their families the kind of support and information that the Kochs did not receive.
When Oxford GP Ann McPherson was diagnosed with breast cancer 10 years ago, it brought home to her the need for extra communication with fellow sufferers. So she and her colleague Andrew Herxheimer — a clinical pharmacologist, who himself had recently undergone a knee replacement — decided to set up a website where personal stories of UK patients were available for others to download.
Around 250 video and audio recordings, gained from rigorous interviews, were uploaded on to the site, which was named Dipex (Database of Individual Patient Experiences). Now it contains hundreds of posts from patients on its online forums.
“We were both doctors and we both realised the importance of learning about other people’s experiences,” says Dr McPherson, a mother-of-three and co-author of the Diary of a Teenage Health Freak. “Our own experiences sharpened our awareness of the value of hearing from others what it has been like to be ill and be treated.”
Andrew Stone — Lord Stone of Blackheath — chairs the website project. “We are helping patients to manage their situation,” he says. “The site helps friends and family and carers to understand what the patient is going through; it helps health professionals to see the illness from the whole patient’s point of view rather than seeing them as a sick an ‘organ’ or a ‘limb’.”
Plans are under way to set up a section of the site dedicated to Jewish diseases, so that sufferers and their families can exchange information and support each other. “We’re trying to get money at the moment,” says Dr McPherson. “Each disease section costs around £100,000 and it takes a year to create. So far we’ve raised £35,000 of it. But we are also looking for personal case studies who want to be interviewed. These will mainly be parents, as most of the Jewish hereditary diseases are suffered by children.”
Dr McPherson hopes the section will be launched in October. But it may take longer to win over all the affected Jewish families. Londoner Karen Webber, whose 20-year-old son Jacob, suffers from FD, notes that: “Everybody with FD will know who everyone else is. We are all in contact already. I suppose it might help if your child is ill and you don’t know what’s wrong. It might help with the diagnosis.”
Mrs Jacobs agrees. “The ones that want to be in contact with one another already are through Norwood [the Jewish family charity],” she says. “But the website itself will be important for spreading the information to people who have had symptoms and who actually aren’t sure what they’re dealing with.”
Still, Dr Koch says that he would have found more support invaluable in the ’60s when nobody knew about Tay-Sachs. He also agrees that, unless you have witnessed the effects of the disease yourself, you cannot help other sufferers. “I have seen 140 Tay-Sachs children and I have counselled many parents. You can train people to be counsellors, but if they have never been through the actual experience themselves they can’t really help. You can read all the writing in the world on it, but it doesn’t make any difference.”
