Showing posts with label rare. Show all posts
Showing posts with label rare. Show all posts

Teenage girl making amazing recovery




Rachel Attridge who is just 17 year old was diagnosed with a rare disease in which the body’s immune system attacks the nervous system by mistake. In scientific terms, you call it Guillain-Barre Syndrome. She ended up paralyzed from waist downwards & she had been on life support machine for a year, but now she has shown immense improvement. In fact, she’s recovering every day. She has also returned to college.

Rachel said: 'I'm glad it's all over. I've been told it may take three years for the nerve endings that were damaged to fully recover…I wouldn't want any other person to suffer the issues I had had to go through over the past year.But I'm getting better and better everyday, loving life again and looking forward to completing my studies and doing what I love most.'


First of all, this teenager went through a terrible experience but while she was showing signs, one of the doctors accused her as an attention seeker. When you are sick, this is the last thing you want to hear from a doctor. Since doctors are humans, they can’t help being insensitive. However, I think this is highly unprofessional behavior. I know it’s very difficult to diagnose a rare disease immediately. It takes time, but when a patient is telling you that she has trouble, she can’t be lying.

Earlier on, her symptoms were dismissed as that of flu by the doctors & she was asked to take some painkillers & rest for a while.

Astonishingly, despite her worsening condition, two more doctors dismissed her pleas for help - with one even suggesting it was down to her being pregnant .Another insensitive doctor suggested that she might simply have been attention seeking.

Rachel was completely paralyzed for four months, with a ventilator keeping her alive.

According to her mom, she was tube-fed through her nose and had to have everything done for her. If we had not got her to hospital when we did, she would have died in my arms at home. It has been sheer hell, to be perfectly honest.

Anyway, I’m glad that Rachel’s nightmare is over & she’s so positive about life. That’s the spirit.

And here’s little info on Guillain-Barre syndrome:

Guillain-Barre syndrome is an autoimmune disorder (the body's immune system attacks itself). Exactly what triggers Guillain-Barre syndrome is unknown. The syndrome may occur at any age, but is most common in people of both sexes between ages 30 and 50.

Guillain-Barre syndrome damages parts of nerves. This nerve damage causes tingling, muscle weakness, and paralysis.

Some people may get Guillain-Barre syndrome after a bacterial infection. A similar syndrome may occur after surgery, or when someone is critically ill (neuropathy of critical illness).

The plight of a child




In the morning, I read this terrible story of a 3-year-old girl Afifa. She’s not just suffering from major thalassaemia, but she also has the rarest blood group know as Bombay Blood Group. This multiplies the ordeal of this child & her parents.

Both her parents are cousins & they were unaware at the time of their marriage that both of them are patients of minor thalassaemia. It has been reported that only 12 people have this blood group in Pakistan. 6 people are from Karachi & Afifa is one of them. Anyway 3 people have agreed to donate blood to this child.

Bombay Blood Group is the rarest blood group. It was discovered by French haematologist Bhendi in the year 1952. If a Bombay Blood Group recipient is not transfused the blood of a Bombay Blood Group person, it can lead to a haemolytic transfusion reaction that can be fatal and which would ultimately lead to death. Studies reveal that this is due to the absence of the H substance (antigen) in the red cells. The absence of the H substance is attributed to the deficiency of the enzyme fucosyl transferase. The phenotypes of this group lack H antigen in the red cells and have anti-H in the serum.

The bottom line is: before you get married, it’s better to get tested & know what’s wrong with you. Otherwise your child has to pay the price.