Children living with the world’s rarest diseases

Categories: In The Media.

29 February 2016 the world commemorated International Rare Disease Day coordinated by The European Organisation for Rare Diseases (EURORDIS). On this day patient organisations from all over the world held awareness-raising activities based on the slogan “Join us in making the voice of rare diseases heard.” A rare disease can be defined as affecting less than one in 2000 people, with 80% of rare diseases having genetic origins, whilst the remaining 20% are a result of infections, allergies and environmental causes. There are no existing cures for rare diseases and 30% of rare disease patients will die before the age of five.

The article introduces us to three brave young people that are living with rare diseases, the first being Dylan. Janie, Dylan’s mother, experienced a normal pregnancy, but after Dylan was born he would not feed, was floppy and uninterested. At the age of 3, he received a diagnosis. Dylan is now 12 years old, can’t speak, has severe epilepsy and uses a wheelchair, but keeps busy by enjoying respite care at Haven House Children’s Hospice in Woodford, Essex and attending a specialist school when he is well enough. Janie said “At the moment there is no cure, but I’m hoping someone very clever will be able to work something out. I’m positive about life. I look at Dylan and I think ‘how can I moan about my situation’ when my son goes through this every day? He’s so positive.”

In 2008, at the tender age of five, Husna Nee was diagnosed with life-limiting Friedrich’s Ataxia disease which causes progressive damage to the nervous system and heart, the condition also causes a loss in mobility, eyesight and hearing. “She became unwell with a viral infection, she went into hospital for what we thought was dehydration and came out 10 days later in a wheelchair having forgotten how to lift a pencil,” said Rahna Nabi, Husna’s mother. “There is nothing worse than being told that your child will die slowly before your eyes. There was nothing we or anyone could do as there was no known cure. There was a lot of heartache because rare diseases mean you lose the child you thought you were going to have,” said Rahna. Husna is now 16 years old and is very determined and high spirited, most tasks are a struggle for Husna but her family remains positive by focusing on what she can do and not what she has lost and also relying heavily on their Islam faith. “There’s literally nothing you can do except make them as happy as possible,” said mother Rahna.  

There are currently 60 million people worldwide that are affected by 6000 rare diseases, the illnesses are explained as those that affect less than one in 2000 people. The low number of patients can affect the development of treatments and in many cases there is no option but palliative care. Nick Meade, from Rare Disease UK, said “if you’ve only got 50 people with a condition, then research into that condition is much harder, because you’ve got fewer people to work with. The quest for a diagnosis can take up to 20 years.” To read the full article, click here.

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