Salman Munir's Story - An inspirational young man living with CAH in Pakistan

Salman Munir's Story - An inspirational young man living with CAH in Pakistan

Salman addresses the inaugural CAH Club Meeting at the National Institute of Child Health, Karachi, Pakistan

My name is Salman Munir. I'm a 22 year old medical student and am currently in my third year of medical education in Karachi, Pakistan. I was diagnosed with CAH (Congenital Adrenal Hyperplasia) at birth.

CAH is an autosomal recessive non-communicable disease (NCD) resulting from a genetic mutation of the enzymes responsible for the production of cortisol by the adrenal gland.  Even though I belong to an upper middle class educated family, getting the diagnosis made and then getting the condition treated from the right doctors at the right time was a challenge in itself for my parents.

Today I would like to share with you the problems my family and I face in dealing with NCDs in a low-middle-income-country (LMIC). I will also talk about the problems we face as a country when it comes to chronic health problems.

On the third day after birth, born as an apparently healthy child, I started vomiting in a projectile manner, consistently worsening over next few days. Being born in a third world country where the major burden of healthcare is of infectious disease, congenital chronic health diseases are overlooked and usually pushed further down the list of differential diagnoses which unfortunately often leads to a lot of unexplained neonatal mortalities. Within the first week of life I had to be admitted to the hospital and at the time of admission I was 7% dehydrated and lethargic. All my systemic examinations were done and other investigations were carried out to rule out diseases of the gastrointestinal system. An xray of my abdomen was done since the doctors thought that I might have a volvulus (bowel obstruction) which would need to be corrected but that too was not the case. Meanwhile I was being treated symptomatically and the dehydration was corrected, though I was still not being fed orally.

One month down the line from when my symptoms initially appeared, I was seen by a senior doctor (who was not an endocrinologist but rather a pediatric nephrologist) who suggested investigations like 17hydroxyprogestrone to rule out CAH given the earlier investigation of electrolytes pointed towards it. Finally I was diagnosed with CAH and was kept under observation while being treated with IV Hydrocortisone and oral Fludrocortisone. A few days later I was discharged with instructions to take these drugs orally and was advised to come for a follow up visit with the same nephrologist a week later.

At the time when I was diagnosed with CAH there were no known endocrinologists for the pediatric age group and most general doctors had very limited understanding of this illness. Right up until my teenage years I was still being treated by nephrologists despite them knowing my disease was not directly related to their specialty. Because of a lack of the right doctors and right information I had to suffer both then and now. I was an abnormally tall boy as a child in my school due to the early onset of puberty which made me a target for a lot of name calling and insults. I was the only child in my year who wore pants to school because the other kids would make fun of my hairy legs. Kids, ladies and gentlemen, can be cruel. Today as a young adult I am the shortest amongst the people of my age group, and as you can imagine, my new height is associated with a lot of new names - the hobbit being the most popular. Even though I have managed to see through a major part of my life despite all these social problems, it always kept me under a mental and psychological stress which I never shared with anyone, not even my parents. Still to this day there are only a handful of doctors who are aware of CAH in Pakistan and getting to them in time when their child is acutely ill is not possible for most of the parents and patients.

Despite the fact that I come from a family with a healthy socioeconomic background, we are not able to keep up with the cost of the drugs and the price of the tests that need to be carried out routinely. Keeping in mind the chronic nature of the disease, people living with CAH are necessarily dependent on medication for the rest of his or her life. When medication costs are added to the cost of routine hospital visits in a country where health insurance is uncommon, appropriate health care becomes very unaffordable for a vast majority of CAH patients and families. Worse still, even if people do manage to afford the medications, the availability of these essential medications is never certain. Even though these drugs are basic life saving drugs and included in the World Health Organisation's Essential Medicines List for Children (WHO EMLc), they are not registered in our country, hence supplies must be smuggled in, and this leads to high pricing, uncertain availability and loss of quality assurance (given Florinef now requires a specific temperature and environment, which is usually not maintained during black market transportation).

Medication and treatment costs for CAH families is a serious challenge in Pakistan. The majority of the population of Pakistan is poor and around 46% of the population earns less than $1.25 a day. Roughly, the black market cost of medicine needed to keep a child with CAH alive is $0.5 and can go as high as $2 for a day making it highly unaffordable for the people in general even without considering the cost of the other necessities of life. It needn't be like this. Our neighbouring country India has managed to bring down the cost to roughly $0.1 per day to treat CAH. Besides the cost of the medicines, the cost of the lab tests is also another problem. Even basic tests are expensive and frequently unavailable - many essential tests cannot be carried out by most hospitals throughout the country. Many CAH specific tests are limited to only a few Hospitals of the larger urban cities like Karachi and Lahore. These factors mean treatment is expensive and largely unaccessible for the masses, since the majority of Pakistan's population is situated in villages or smaller towns where these facilities are not available.

Another issue for families and children living with CAH in Pakistan is that a lack of education prevails, and as a result even after a diagnosis is successfully made, parents aren’t able to properly grasp the intensity of the treatment and the need that it is a life long treatment for which their child will have to take the above mentioned drugs throughout life. There is a need for increased awareness around the challenges facing children living with chronic health conditions in Pakistan - if not amongst the general population, definitely amongst clinicians and pediatricians.

Such are the problems and concerns people living with CAH in Pakistan endure. My younger brother was also diagnosed with a milder form of this condition and is trying to control his condition with the same medication. Having one child with CAH is not easy to manage for the parents let alone two. Because of the strain on our family, after getting into a medical school I read up on articles about what can be done to prevent CAH from happening in the first place. I found out that investigations can be done and diagnosis can be made when the child is in the womb of the mother and some of the complications of this disease can be prevented altogether if treatment is carried out on the mother while she is pregnant in turn helping the child and the parents to avoid this ordeal in the future. But sadly such options are beyond people in Pakistan - we do not have the facility necessary to carry out such investigations in the first place, let alone the cost barriers even if it were available. Travelling half way around the world to get this investigation done is not possible for every female at risk since most cannot afford the travelling cost and if they can they do not get the visas approved, so it would be revolutionary if we could make such investigations possible here at bearable prices. A lot of families would benefit. CAH is not uncommon in Pakistan due to a high trend of consanguineous marriages in our communities which adds to the burden of this genetic condition. Changing the mindset of people with regards marriage will require a lot of time and effort. Like thalassemia, tests for the screening of CAH should be carried out before people decide to get married so that they can prevent or reduce the chances of the recessive genes to come together, thereby helping both the parents and the child to have a better quality of life.

Salman Munir, August 2014.

Salman's story featured in CLAN's publication "Leave No Child Behind", launched at the 65th Annual UNDPI/NGO Conference in New York on 28 August 2014.