Home Health & Wellness What Is It Really Like to Live with a Rare Disease?

What Is It Really Like to Live with a Rare Disease?

Published: Last updated:
Reading Time: 4 minutes

A rare disease affects only a small percentage of the population. The disease is characterised by a wide variety of symptoms that vary from one patient to another. Rare diseases are:

  • Often genetic
  • Not diagnosed correctly
  • Have no definite treatment
  • Cause disability, chronic illness, and sometimes, premature death

It can be challenging to find a specialist who knows how to treat the condition. So, a majority of patients look for advocacy groups and genetics clinics to help them find one. Below are three rare diseases and how the patients live with the conditions:

Autoimmune haemolytic anaemia (AIHA)

A seventeen-year-old girl was diagnosed with idiopathic autoimmune haemolytic anaemia after suddenly falling ill. At first, she thought it was a cold or an allergy after skipping school. After a few days, her condition worsened, making her body extremely weak. She has severe headaches, mini seizures, dizziness, and pain. On admission, the doctor diagnosed the condition as warm idiopathic AIHA after an examination and ordered a blood transfusion.

At first, the haemoglobin was 5.0, which dropped further to 3.0 while waiting for a cross-typing match. The patient received five units of blood within two days. Idiopathic autoimmune haemolytic anaemia is a rare disease that affects the red blood cells.

It develops when the body produces antibodies that destroy its red blood cells rapidly. The condition is referred to as idiopathic when the cause is not known.

This form of AIHA is life-threatening as it occurs suddenly and requires immediate medical attention. The condition causes the body to grow weak, nausea, headache, diarrhoea, shortness of breath, abdominal discomfort, and muscle pain. Approximately only 50% of AIHA cases are diagnosed as idiopathic. There are various treatment options: using steroids like prednisone, surgery, blood transfusion, and the administration of immune-suppressing drugs.

In this patient’s case, the doctor also administered 100mg of prednisone by IV along with the blood transfusions. Cyclosporine and vincristine were also prescribed, though the side effects (thinning and loss of hair) of vincristine took a toll on the patient’s body. Before she was diagnosed with AIHA, she had been applying for jobs and at universities. The condition caused most of these activities to come to a sudden halt.

Alkaptonuria (AKU)

Simon Laxon, 44, was diagnosed with alkaptonuria (AKU) when he was just six weeks old. Now, a member of AKU Society, Simon explains the rare condition was free of symptoms when he was young. However, the doctors explained that being a genetic disorder, the disease was likely to manifest when he was older.

Alkaptonuria is a metabolic disease that causes the accumulation of HGA acid and benzoquinone acetic acid (BQA) in the various body parts like the connective and cartilage tissues as well as body fluids like urine and sweat.

The disease causes urine to darken when it is exposed to air and a grey-blue coloration of the ear helix and the sclera evident in the third decade of one’s life. It is rare as only one to nine people out of a million are diagnosed with the problem.

For Simon, the condition reverted in 1997 when he collapsed at work due to severe back pain. Initially, the doctors diagnosed the condition as arthritis and only confirmed the disease (AKU) after four years. While Simon has learned to live with AKU, his constant frustration is his inability to support his family financially and play outdoor games with his kids. He explains that he appears healthy on the outside and not many people can relate to his condition.

CHARGE syndrome

Jonas was diagnosed with CHARGE syndrome when he was eight months old. It was after lots of tests and hopping from one hospital to another without getting a precise diagnosis of the condition. He was born six weeks early, and the ultrasound revealed abnormalities like an empty stomach and a cleft lip.

CHARGE is an abbreviation for several of the features common in the disorder: Coloboma, Heart defects, Atresia choanae (also known as choanal atresia), growth Retardation, Genital abnormalities, and Ear abnormalities.  The syndrome is extremely rare as it occurs in one in every nine to ten thousand births in the world. Children with the disease manifest life-threatening defects, including breathing and complex heart issues, swallowing difficulties, loss of vision, hearing, and balancing problems. 

His parents explain that taking care of Jonas has been challenging. Eating, swallowing, and breathing is difficult, and he has no sense of smell. He attends the kindergarten five days a week for just a few hours in the company of a nurse. Jonas also has a nurse to watch him while he sleeps at home due to his breathing problems. He also wears hearing aids, glasses, and visits the hospital for therapies to help manage the diverse symptoms.

Being the first parents to experience the problem, Jonas’ parents formed an association in a bid to support other CHARGE patients in Germany, Luxembourg, and Austria. It was after Jonas’ parents found that most of the information available about CHARGE was written in English. Being a pure German-speaking couple, the information barely helped them understand Jonas’ rare disease.


The above rare diseases illustrate just how their sufferers have to cope with the many issues that are often misunderstood. With research and collaboration between victims and their families, it is hoped that things will change for the better in the future.


Image credit: Freepik

Dennis Relojo-Howell is the founder of Psychreg. He is also the editor-in-chief of Psychreg Journal Psychology, and writes a weekly column for Free Malaysia Today


© Copyright 2014–2034 Psychreg Ltd