Karen Weber devoted 21 years to caring for her son Jacob, who suffered from the extremely rare familial dysautonomia, a genetic disease affecting Ashkenazi Jews. Now she wants to raise awareness of the condition and encourage couples to test for FD as they would for Tay-Sachs.
A year ago, both she and her son caught swine flu and he was in intensive care for months. "His body just couldn't cope," Ms Weber recalls. "He slowly went down and he died in my arms, with me talking to him and holding him until the very end."
Seven months on, Ms Weber is still trying to come to terms with life without her only child. "I was totally devoted to him 24/7. Now that's gone and I need to piece together my life. I'm a lost person now and I need to find where I'm going.
"But I want to help the other children [with FD] who are still here and raise money for anything the children need. It costs thousands to look after these children."
Ms Weber explains that children with FD are mentally unimpaired but suffer problems swallowing, episodic vomiting and breathing difficulties.
Tube-fed from birth, Jacob developed problems with his limbs. "He was continuously vomiting. His hips were destroyed by arthritis and the replacement operation caused a blood clot in his lungs.
"And then he came down with pneumonia which nearly killed him. He fought through and survived that."
One-in-30 Ashkenazi Jews carries the FD gene and parents who both have the gene have a 25 per cent chance of having a child with the condition.
"Tay-Sachs is just as common and you get that test free on the NHS. But not for this," Ms Weber points out. "And it would save the NHS in the end, because these children are so ill."
There are 14 known cases but Dysautonomia Society of Great Britain chair Rosalind Jacobs estimates that based on community size, there should be more than 50. "Where are the others with the disease? Maybe they have not been diagnosed.
"We are working so hard to try to get the National Screening Committee to take notice. With FD it's Russian roulette. We just think it's fair that people are given the opportunity to know if they are carrying it."
There is scant awareness of the condition among the Jewish community and doctors have little experience diagnosing it. Ms Weber, from Mill Hill, says Jacob had feeding problems after birth at Edgware Hospital and was transferred to the special baby unit.
"But he was never diagnosed until we went to the Hadassah Hospital in Jerusalem - which has a special unit for FD - when he was five-months-old. He was diagnosed on sight and it was quite shocking."
Ms Jacobs' daughter Natasha, 19, also has FD and is paraplegic after an operation on her spinal cord to stop scoliosis.
"Our immediate reaction is to phone Israel or America if something's wrong," she says. "No one in this country has the years of expertise. We do have some good consultants here now but they haven't got that many patients to deal with. At the beginning you spend so much time in hospital but slowly you become more expert than the doctors. It absorbs your life."
The parents of children with FD get little government funding for physio and occupational therapy. Both women agree that Camp Simcha activities have been invaluable but bemoan the lack of dedicated backing.
"Norwood was supportive in the beginning when Natasha was small," Ms Jacobs says. "But the children there had learning problems. Natasha wants as much a normal life as possible. She's volunteering two days a week at [spinal injury charity] Aspire and doing an English course."
Ms Weber only realised the impact Jacob had made on others after his death. "So many people came here and looked at pictures of him, classmates who hadn't seen him for 15 years. And he had helped them, given them something extra, just by them knowing him."
