Susan's Transplant Video is on You Tube

Susan Burroughs, the Founder of Cystic Fibrosis-Reaching Out Foundation has now put her transplant video on You Tube. To see the video please go to and search "Susan Burroughs".

Saturday, May 9, 2009

CYSTIC FIBROSIS South Africia's unsung killerBy

By David Furlonger

Cystic fibrosis, traditionally regarded as a "white" disease in SA, is proving to be no respecter of colour. Instead of the few dozen patients formerly believed to suffer from the inherited chronic disease, doctors now believe numbers could run into thousands - most of them undiagnosed.
Indeed, some researchers believe thousands of black South Africans may have died from cystic fibrosis complications without the symptoms being recognised.
"Children who died after being diagnosed with malnutrition, lung infections or diarrhoea may well have been displaying the symptoms of cystic fibrosis," says Professor Michele Ramsay, head of the molecular genetics laboratory in the department of human genetics at the SA national health laboratory service.
Cystic fibrosis is caused by a defective gene that causes the body to produce a thick, sticky mucus that clogs the lungs and pancreas. Common results are life-threatening lung infections and an inability to break down and absorb food. Typically, patients suffer from persistent coughing, shortness of breath, poor growth and weight gain despite a healthy appetite, and difficulty in performing bowel movements.

Prof Michele Ramsay - Symptoms unrecognised
Life expectancy among cystic fibrosis sufferers has improved in recent years but it is still a terminal illness. In the 1950s, most children diagnosed with the disease died before they reached primary-school age. As recently as the 1980s, they were lucky to reach their late teens. Today, thanks to improved research and treatment, many cystic fibrosis patients can expect to live into their 30s and 40s.
However, doctors say there is still no cure for cystic fibrosis. International gene therapy research has raised hopes that a cure will be found but Ramsay says success is still some way off. A number of drugs have enjoyed some success but they are generally suitable only for patients with specific mutations of the disease. Some specialists say the best hope for long-term survival is a double-lung transplant. The procedure has enjoyed some success in SA but is very expensive.
Cystic fibrosis is passed on to sufferers from parents, both of whom must carry the defective gene. Carriers are generally unaware of their status. According to specialist cystic fibrosis doctors Professor Mervyn Mer and Cathy Baird, about 4% of white South Africans are carriers, 2% of coloureds and 1% of blacks. Only when two carriers procreate is full-blown cystic fibrosis passed on. There is a one in four chance of their children being infected.
In an article in the SA Respiratory Journal, Mer and Baird write that the presence of cystic fibrosis is far greater than generally recognised. "It translates into an incidence of cystic fibrosis in every 2 800 white children, one in every 10 000 coloured babies and at least one in every 32 000 black babies born in SA." Another study, however, suggests one in 4 624 black babies could suffer from cystic fibrosis.
Even when infected, sufferers do not automatically display standard symptoms. In some patients, the disease becomes evident soon after birth; with others it takes some years. Unnoticed, complications may include diabetes, chronic sinusitis, osteoporosis, abnormal liver function and even male infertility, says Mer.
The problem in SA is that cystic fibrosis is a little-known disease. In countries like the UK, Australia and the US, awareness and corporate sponsorship are huge, raising millions of dollars for research every year. For some multinationals, cystic fibrosis is their flagship charity. International performers like Celine Dion lend their name to awareness of the disease. Fraser, the two-year-old son of British prime minister Gordon Brown, suffers from cystic fibrosis.
In SA, by contrast, "we are severely challenged in critical mass regarding expertise and finances", says Ramsay. "There are so many things to study here in SA that it's difficult to pursue every research direction."
One reason is undoubtedly that it is seen as a white disease. "That idea has been debunked by scientists but the impression persists among many in the public," says Ramsay. "It's a disease that occurs in every shade of our rainbow nation."
Baird says her interaction with doctors and clinics confirms the prevalence of cystic fibrosis in black communities is higher than previously suspected. Mer says: "There are hundreds, possibly thousands, of black people out there unaware they could have cystic fibrosis."
The sooner the disease is identified, the better the sufferer's quality of life may be. "The individual's health and life expectancy is strongly correlated with whether a diagnosis is made, when it is made and the clinical management and treatment following diagnosis," says Ramsay. "For this reason it is vital that an accurate diagnosis is made as early as possible and that appropriate treatment is initiated and sustained."
Excessively salty skin is a tell-tale sign of cystic fibrosis. Traditional folklore in parts of northern Europe tells of mothers licking newborn babies' foreheads to gauge their chances of survival, says Baird - suggesting forms of the disease have been around for centuries. Ramsay says there are even biblical references to the practice.
Baird says the "gold standard" in detecting cystic fibrosis is a simple sweat test, which is inexpensive and non-invasive. The problem, says Ramsay, is that most rural clinics and their staff lack expertise and facilities.
"Developing countries are challenged on several fronts with regard to diagnostic testing," she says. "Populations tend to be spread sparsely over large geographic distances and the health and laboratory infrastructures tend to be poor. The sweat test is often not available. When it is, it is inadequately performed by staff who lack the appropriate education and skills. This affects both sweat collection and the quality of the biochemical testing. To perform DNA analysis requires laboratories with sophisticated equipment and scientists with the knowledge and skill to perform and interpret the tests."
New drugs, improved treatment and intensive physiotherapy all help combat the effects of cystic fibrosis. But for SA sufferers, as in the rest of the world, living with the disease means regular hospital stays, gradually reduced lung function and the awareness that life is likely to be shorter than for most people. In SA, it is also a lonely disease. Lack of public awareness means sufferers get little understanding beyond their immediate families.
Nevertheless, there are many examples of sufferers living lives to the full. Around the world, cystic fibrosis sufferers have excelled in all kinds of endeavours, including business, the arts and even sport. In SA, Paul Dolman, a cystic fibrosis patient with 40% lung capacity, is a regular Comrades Marathon finisher and motivational speaker. Others find different ways to beat the odds, such as climbing Mount Kilimanjaro.
Mer says: "There are some extraordinary people out there living with cystic fibrosis. They recognise that, in the long term, they are unlikely to beat the disease, but at the same time, they are not willing to let it beat them."

FDA Approves Pancreatic Enzyme Replacement Product for Marketing in United States

Friday, May 08, 2009 - Creon designed to help those with cystic fibrosis, others with exocrine pancreatic insufficiency

Washington, D.C. - infoZine - The U.S. Food and Drug Administration announced that it has approved Creon (pancrelipase), a pancreatic enzyme replacement product designed to help patients with cystic fibrosis and others with exocrine pancreatic insufficiency (EPI) digest and absorb nutrients from foods. Creon is the first FDA-approved delayed-release pancreatic enzyme replacement product to be marketed in the United States as a result of the agency’s unapproved drugs initiative.Creon, which contains a mixture of digestive enzymes extracted from the pancreas of pigs, helps patients lacking the enzymes needed to digest fats, proteins and sugars from food. Creon is approved for use in pediatric and adult patients.The FDA had required the manufacturer of Creon to submit, and the agency has approved, a Risk Evaluation and Mitigation Strategy (REMS), which includes a Medication Guide, to advise patients on risks associated with high doses of Creon, and the theroretical risk of transmission of viral disease from pigs to patients. A rare bowel disorder, called fibrosing colonopathy, can result from a patient’s high-dose use of Creon. While this condition is serious and may require surgery, a patients’ chances of having this condition may be reduced through their adherence to dosing instructions in the labeling. The risks of a rare bowel disorder and viral transmission described in the Medication Guide are considered to be risks related to all porcine (pig)-derived pancreatic enzyme products, including Creon.Instructions for dosing based on weight and age should be followed carefully. Creon may be sprinkled on food. Because Creon is a delayed-release drug, patients should never crush or chew the capsule as this would cause an early release of the enzymes and a reduction in enzyme activity.“The approval of Creon will allow patients to have access to an approved pancreatic enzyme replacement product that meets FDA standards for effectiveness, safety, and manufacturing consistency,” said Donna Griebel, M.D., director, Division of Gastroenterology Products within FDA’s Center for Drug Evaluation and Research (CDER).The FDA’s Office of Compliance and Office of New Drugs within CDER worked with Creon’s manufacturer, Solvay Pharmaceuticals, through the agency’s unapproved drugs initiative to help the company come into compliance with federal laws by obtaining FDA approval. The agency continues to encourage the manufacturers of all other unapproved pancreatic enzyme products (PEPs) to work with the agency to obtain market approval. All PEPs must obtain FDA approval by April 28, 2010, or be removed from the marketplace.“Like other medically necessary drugs, the FDA is exercising its enforcement discretion while it works with the manufacturer toward gaining approval of these drugs,” said Deborah Autor, director, Office of Compliance, CDER. “FDA approval is critical, and the manufacturers of these products have a responsibility to the American public to ensure that patients have drugs that meet our standards of safety, effectiveness, quality, and labeling.”People who are allergic to pork and pork products, suffer from gout or kidney disease, have difficulty swallowing, are pregnant or who plan to become pregnant, or are breastfeeding, should discuss the use of Creon with their health care professional. Common side effects of Creon include flatulence (gassiness), abdominal pain, headache, and dizziness.Creon and other pancreatic enzyme products are made from pancreatic organs of pigs used for food. There is a theoretical risk of contracting a viral infection from pig-derived medicines, but no human illness has been reported.Health care professionals and consumers may report serious adverse events (side effects) or product quality problems with the use of this product to the FDA's MedWatch Adverse Event Reporting program either online, by regular mail, fax or phone. Related

Wednesday, May 6, 2009


We received the following thank you note from a patient where we helped pay for them to be able to go home on IV's instead of staying in the hospital.

Dear Reaching Out:
Thank you Reaching Out Foundation for making it possible for me to go home on IV's after a long two weeks in the hospital. I battle with insurance so much for coverage on things I need for CF. In my time of need Reaching Out was there for me. Thank you to such a wonderful program and all the special people that donate money to help CF patients and families.
Thanks again, a 34 year old with CF