The rarest of rare diseases and the young children who suffer from them
What you are about to read here is definitely not something you would wish upon anybody; even your worst enemy. Diseases so rare they affect one in a million maybe and the most horrendous fact of all is that those suffering are young children. Hopefully with enough awareness and worldwide co-operation, there may come a cure one day, but till then, every single day is a day of suffering and emotional distress for those afflicted with rare diseases.
Currently, around the world there are 6000 rare diseases and 60 million people worldwide, are suffering from them. But although diseases such as hemophilia are part of this group, there are even rarer diseases that are almost unheard of, afflicting very few people on the planet.
Read on to find out about the three most unusual and rarest of rare diseases and some of the young children suffering from them.
1 Partial Triplication 15
Dylan Torrance is just 13. The newly turned teenager suffers from a condition which took doctors three years to diagnose. Dylan suffers from a mutation in the 15th chromosome, a condition so rare that he is the only person in the world having such a defect. The disease is yet to be named. It is currently being referred to as a literal description of the condition which is partial triplication 15. As a result of this condition, Dylan suffers from severe bouts of epilepsy; he cannot speak and is confined to a wheelchair.
Janice Torrance, his mother mentioned that though he was a normal delivery, he showed signs of abnormalities from a young age. This included flopping over and she was even unable to feed him. The disease affecting Dylan, affects just 19 people globally and he is currently the only with the defined disorder. Every human being has 23 chromosomes, Dylan’s 15th chromosome is the one with a mutation and there is no cure!
2 Friedreich’s Ataxia Disease
17-year-old Husna Nafees’ parents almost lost her one day when she was five. They thought she was suffering from viral infection and dehydration; instead she spent 10 days in the hospital. When she was discharged, she couldn’t even lift a pencil. Husna Nafees was unfortunately diagnosed with the life threatening condition of Friedreich’s Ataxia disease which may take her life at any moment. She is slowly experiencing a degeneration of her own faculties where her nervous system is damaged, so is her heart and she is now rendered immobile. She has poor eyesight and suffers hearing loss too.
Husna’s condition is summed up in her Mothers own words “There is nothing worse than being told that your child will die slowly before your eyes.” There is no cure for Husna, who according to doctors will soon lose all control of her limbs, become deaf, dumb and blind. She will soon lose the ability to swallow and eat and will ultimately be incapacitated. Hopefully all those reading this will say a prayer for Husna today as despite her suffering; she is a determined and spirited girl.
Friedrich’s Ataxia is so deadly that it can attack siblings at once, such as the case of a family in Egypt which lost a son aged 25 in 2015 and now will watch their two daughters Sara, 18 and Shahed, 12 deteriorate from the same disease.
3 Argininosuccinic Aciduria
Alea Begum who lives in London is grief stricken. Her little daughter Khadija was diagnosed with the rarest of rare disease called Argininosuccinic Aciduria when she was just a year old. The disease is so malicious that it creates an increase of ammonia in the bloodstream which slowly becomes toxic and breaks down proteins in the body. That’s an extreme dangerous condition as the body relies on protein to survive. Her entire nervous system will ultimately be affected by the disease.
Baby Khadija’s brain is already damaged and she is suffering from a loss of vision. Khadija, now six, suffers from severe epilepsy and loss of eyesight, but she is a fighter and is learning Braille at a special school. Alea is learning to cope and she herself is a grief counselor working for a remarkable organization called scope a charity that brings similar families together to help each other with practical and emotional support.