This article was published when Hayley was eight, before she started the drug trails in the US. She will be 14 in December 2011 – you’ve come a long way Hayley!
Hayley Okines suffers from a rare disease called Hutchison Guildford Progeria which ages the body more than eight times faster than normal. When she was first diagnosed with Progeria, there was no hope, no cure. However, a treatment for Progeria is now being developed but, given that her body is equivalent to an old woman, can it offer hope for Hayley?
This year began with a tragic reminder of the urgent need for a Progeria treatment. Hayley and her family attended the funeral of her best friend who died of a heart attack. She too had Progeria and was only two years older than Hayley. Progeria accelerates the aging process, the average life-span is just thirteen years. At eleven, Hayley’s friend was into her nineties in progeria years when she died. Hayley is eight, equivalent to her seventies. Tragically, the death of her friend was just two months before a possible breakthrough in the treatment of the disease.
Hayley’s parents heard about the possible treatment at the annual progeria reunion in the United States. In Autumn 2006, the family are told that they can expect Hayley to be on the treatment by the end of the year. If true, there will be plenty to celebrate on Hayley’s ninth birthday in December.
Back in 2002, Hayley and her father were in Florida for the annual progeria reunion. Thirty two children, three-quarters of the world’s known progeria population, were there. In the middle of the reunion, one of the guests suddenly died. It was a sad reminder of the reality of the disease at what was supposed to be a happy event.
With children from all over the world in one place, a reunion is an invaluable opportunity to research the disease. In 2001, the Progeria Research Foundation began to take samples from children in order to build up a cell bank. This work led to the discovery of the treatment currently being developed.
The treatment offers hope that Hayley’s life could be longer than those of her friends but, until it is ready, medical care is in the hands of her local hospital in Hastings where her paediatrician has monitored the progression of the disease for the last seven years.
On a recent visit to the USA for tests, the first sign of possible cardio vascular problems were detected. The blood flow in an artery in Hayley’s neck was found to be restricted, so she was given an MRI scan. Her mother explains “She was one of the first progeria children to complete an MRI scan and get proper results which confirmed that the blood wasn’t flowing and could cause a stroke. So, she has been put on synthetic statin which stops the arteries furring up”. Hayley has been taking the statins for the past two years. There has been no noticeable deterioration since.
Progeria is caused by a tiny mutation in a child’s DNA; a defective protein called Lamin A. This protein holds the nucleus of a cell together, but in progeria children that nucleus is unstable. This instability leads to the process of premature aging.
Having identified the defective protein, American researchers, testing the progeria cells they had collected, made an exciting discovery. A drug developed for cancer treatment restored the nucleus of the cells to a near-normal appearance. The drug is called a farnesyltransferase inhibitor or FTI.
The drug has not been trialled on children and Hayley is reluctant to be one of the first human guinea pigs but, with so few children available for trials and with their lives so short and in the interest of fairness for all, waiting for others to go first is not an option.
The Okines are playing host to another progeria family, Wim and Godelieve Vandeweert from Belgium, who first heard about the condition from a television documentary. The chance of having a child with progeria are one in eight million. The Vandeweerts have two progeria children; Michiel and Amber. Doctors believe that the Vanderweert’s situation is a remarkable chance occurrence. It is thought that both parents could be carrying defective cells, although these cells have not been identified.
The Okines finally get word that the new treatment will start in June. Hayley will undergo extensive testing in Boston before the drug is used, The drug trials are shrouded in secrecy. All the participants have signed a confidentiality agreement.