Sickle cell conditions are thought to affect millions worldwide, with those of African extraction the most common sufferers. Despite this, many doctors remain uninformed about the disease. According to Allan Platt, program coordinator of the world’s first 24-hour sickle cell primary care centre, patients deserve better
And hopefully, that’s exactly what sufferers in the Cayman Islands will get, after Mr. Platt recently visited Health Services Authority doctors, nurses and managers at George Town Hospital to share his knowledge and give tips on how sufferers and medical professionals can work together to manage the disease.
Later, he told members of the Cayman Islands Sickle Cell Support Group, which has about 30 members, that the response he received from the HSA was unlike anything he had experienced in the USA.
‘I go to emergency rooms all over the USA and only one doctor will turn up. I got an excellent reception here; it is one of the best I have ever seen. We had doctors from lots of medical specialties; nurses. There was a lot of enthusiasm in the room, but now you have to work with it,’ he said.
Sickle Cell Disease is an inherited group of red blood cell disorders. It takes its name from the mutated shape of some red blood cells in people with the disease; they change from the normal doughnut shape of a red blood cell into the shape of a sickle or banana. The cells also become less flexible and sticky. Rather than moving through blood tubes like normal red cells do, the sickle cells become trapped, and with them, so does the oxygen they carry.
Beyond having the potential to damage tissue and organs, this compromised oxygen flow often results in painful crises for the sufferer, which can arrive without warning.
The pain can be anywhere from mild, lasting a few hours, to very severe, lasting for several days, explained Mr. Platt.
‘Some patients have told me it is like their bones exploding from the inside out and that can go on for several days,’ he said.
The disease has its roots in Africa where, thousands of years ago a gene mutation occurred – possibly as a natural defence to malaria. As people migrated away from Africa, so did SCD and a much larger number carrying the sickle cell gene. Those carrying the gene have sickle cell trait, which is usually harmless and without symptoms.
Today, those of African extraction are still the most common sufferers of the disease, but it can be passed on if both parents have sickle cell trait.
Mr. Platt said the disease now touches people around the world, including African-Americans, Arabs, Greeks, Italians, Scandinavians, Latin Americans, Europeans and people from India.
In the UK, about 12,500 people are through to have the disease, with about 240,000 carrying the gene that causes it. In the USA, about 80,000 people have the disease, Mr. Platt explained.
Beyond having to endure painful crises, the disease can severely restrict the way sufferers live their lives, with physical labour and exercise dangerous, if not deadly. Anything that makes a sufferer out of breath, dehydrated, cold, hot or exhausted can set off a crisis.
To make matters worse, patients are often forced to endure poor treatment because many doctors remain ignorant of the disease, Mr. Platt said.
When patients arrive in emergency rooms suffering for crises, doctors, unable to see the cause of their ailment, frequently mistake sufferers for junkies seeking pain-killers.
For sufferers with light skin, the problem is often compounded by a misperception that SCD is a ‘black disease’.
‘Patients are leaning on the doctor to know what to do and the doctor may not know what to do, or how to manage their pain, or even know why they are in pain. That’s a dangerous situation because things get missed, the patient is not treated well and the doctors are frustrated.’
That’s why patients should know as much as possible about the disease, he explained. ‘A good humble doctor will listen to the patient. If the patient tells them what works, they really ought to pay attention to that.’
Mr. Platt is optimistic that more doctors are becoming better informed about the disease, surely, in no small part, because of the campaigning of Mr. Platt’s colleagues at the Grady Memorial Hospital Sickle Cell Centre, Atlanta, Georgia.
And there is further hope for sufferers, Mr. Platt told those at the meeting, in the form of new treatments, a potential cure and hopes of a gene based cure. A new drug, Hydroxyurea, is helping patients by reducing the frequency of painful crises, and is prolonging life. Doctors are also encouraged the use of nitric oxide, which, when inhaled, seems to help patients avoid crises and live healthier lives.
There is also the option of a bone marrow transplant, which has fully cured over 150 people. The downside, said Mr. Platt, is that it is very expensive (about US$80,000 for one year’s treatment) and can be fatal in about 10 per cent of cases.
Looking forward, Mr. Platt believes core blood stem cell research, harvested from the placenta after a mother gives birth, could provide a gene based cure. But in the meantime, sufferers, like those in Cayman’s Sickle Cell Support Group, need to band together, and campaign for better treatment.
‘We’ve come a long way,’ Mr. Platt said. ‘The last study that was done back in the 90s showed that SSD patients were living into their 40s and 50s.
That was before hydroxyurea, which is actually prolonging life. I perceive that patients now are living into their 50s and 60s, even 70s. It is approaching normal lifespan.’
Mr. Platt is the co-author of two books on the disease. The most recent, Hope and Destiny: A Patient’s and Parent’s Guide to Sickle Cell Disease and Sickle Cell Trait received a five-star rating from Amazon.com readers. For more information on Sickle Cell Disease, visit www.scinfo.org