As Rare Disease Day approaches on Feb. 28, some rare diseases have been making headlines. One in particular has been reported on by ABC concerning two brothers with a life-threatening disorder discovered last summer called Alport Syndrome. The disease will be at the center of a live tweet discussion today.
ABC has been concerned with a case involving two brothers in Texas, Jonathan and Christopher. Both of the siblings, 18-years-old and 16-years-old, have different personalities. One brother is quiet and loves video games, while the other is outgoing and has hobbies such as jet skiing and dirt bikes. Despite their differences, they both share Alport Syndrome.
When Jonathan was two years old, doctors discovered blood and protein in his urine and after many tests throughout his childhood, they were not able to come up with an explanation. When both brothers were in the early years of elementary school, they experienced hearing loss in both ears. The doctors, though puzzled, could not find an explanation and simply gave the boys hearing aids.
It was only last summer, in their teens, that both Jonathan and Christopher found out they had Alport Syndrome. The disease affects the brain causing persistent and severe epilepsy, liver disease and progressive loss of skills developed through various stages of childhood, also known as developmental milestones.
Through constant seizures and brain damage, death is expected within a year of diagnosis. In some cases for teenagers and older children, the disease may occur over several years before the body succumbs to the symptoms.
Although it is difficult to predict, it is estimated that approximately one in 100,000 people have Alport Syndrome, which is one of nearly 6000 rare diseases now with the spotlight on them as Rare Disease Day approaches.
The syndrome is inherited, which means both parents carry it. The parents may be healthy, but if they have the same faulty genes, most people carry different ones, there is a chance it will be passed on to their child. It is said that each pregnancy has a 25 percent chance of the child being affected by Alpine Syndrome.
An EEG may detect the disease through a distinct pattern in the brain waves. Moreover, a biopsy of the liver during the disease’s later stage may also help in diagnosis.
Such as the case for Jonathan and Christopher, the lack of science and awareness on many rare diseases leads to a delay in diagnosis. There are also difficulties financially, and in treatment and care, because of the lack of awareness of the rare disease.
In response, at one p.m. ET today ABC’s Dr. Richard Besser, a chief health and medical correspondent, will host a live tweet discussion about rare disorders. He will be joined by the Alport Syndrome Foundation and the National Organization of Rare Diseases, on top of hundreds of other organizations.
This precedes Rare Disease Day, which was launched by Europe in 2008. The day has since become a global event with more than 70 countries participating last year. Though defined differently in each country, roughly the number of people with a disease considered rare is fewer than 200,000. There are reported to be 6000 rare diseases, with 30 million affected in both the UK and America, equal to one in ten Americans. In Canada, one in twelve are affected by a rare disease. So, as Feb. 28 approaches, start thinking about how support can be given. Whether it be sharing a story or volunteering at an event, there is plenty to do on Rare Disease Day.
By Kollin Lore