A young girl’s rare disease may provide clues to the genetic causes of obesity
For one family, a young girl's diagnosis with a rare genetic disease ended years of tests and referrals to explain her puzzling symptoms: an overgrowth of fatty tissue on specific parts of her body including her belly and one leg.
For the researchers who made the diagnosis, it provides insight into a rare, poorly understood disease and may shed light on the genes that cause obesity.
"This case illustrates how studying rare genetic diseases can inform our understanding of common diseases,"…
28 July 2014 FREDERICTON (GNB) – The provincial government has established the New Brunswick Drugs for Rare Diseases Plan which will provide assistance to those with certain rare diseases who face high drug costs.
"The cost of drugs to treat rare diseases can sometimes reach a million dollars per year per patient, and often, due to the rarity of the conditions, demonstrating a drug's efficacy through clinical trials is difficult," said Health Minister Hugh Flemming. "These factors make it unlikely that these drugs would be covered under most drug plans. I am pleased that our government was able to bring forward this plan which will help alleviate the financial burden of those with these rare…
Parents don't know where to turn when faced with a diagnosis of a very rare or unique condition. If a relevant disease-based organization exists, it may be national or international in scope and other affected families may live far away. The Rare Disease Foundation can help at a local day-to-day level. Our parents have found that they have much to offer each other, regardless of diagnosis.