KARACHI: Suffering from any disease is a burden in itself but nothing could be worse than suffering from a rare disease. Lysosomal Storage Disorder also called LSD was once upon a time considered a rare disease in Pakistan.
But it is extremely unfortunate that it is no rarer and the incidence of this disease is drastically increasing with every passing day. Besides, a rare disease disorder comes with extra constraints in terms of lack of awareness amongst the masses, even amongst doctors and non-availability of effective treatments.
Giving an overview on rare diseases, Head of Paediatric Department at Indus Hospital Dr Mohammad Fareeduddin said, “There are over 40 types of LSDs and the estimated combined incidence of all lysosomal storage disorders is about 1 in 5,000 live births. However the incidence of each of the different diseases can range from 1 in 40,000 up to 1 in 2,000,000. Whereas in Pakistan over 150 cases have been diagnosed in two years, which is not considered to be as rare as the global data. The reason could be the higher frequency of consanguineous marriages in many communities.”
Replying to a question Dr Fareeduddin said, “We are aware about the deaths due to LSDs during last year. The actual number of such deaths could be much more but unknown due to the absence of LSD diagnosis facilities. We have 13 under-treatment patients in our country”.
Lysosomal Storage Disorders or Diseases (LSDs) means that there is something wrong with the special chemicals called enzymes that are required to break down certain substances in the body. As the enzymes are found in compartments in the body’s cells called lysosomes, hence the name given is LSDs. As a result of this deficiency, various materials are inappropriately stored in the cell. Over time, the amount of material building up in each lysosome causes it to swell and occupy more space in the cell, leading to additional problems for normal cellular function. Cells thus become dysfunctional and may die, resulting in a wide variety of clinical symptoms.
He said awareness and the availability of proper health services vary extensively in different regions of the country. Metropolitan cities are still doing well, as awareness is present. Expecting parents should be suggested prenatal diagnosis in order to prevent the recurrence of the disease.”
Although rare diseases have limited treatment options, a few of the LSDs are now treatable with enzyme replacement therapies. Dr Fareeduddin explained, “We cannot say these LSDs are rare in Pakistan. Rather nobody is recognizing them because of lack of awareness and lack of diagnostic facilities. As a group they form a very significant segment of the patient load and in order to create awareness and support, they have to be projected as a problem which is significant but remains unrecognized for various reasons including poor diagnostic facilities and non-availability of treatment options.
However, the arrival of enzyme therapy has sparked new hope for parents of these genetic disorders.”
Dr Fareed said the fact that there are treatment options available now does not prove to be helpful to many of the affected children. The available treatment is beyond the affordability of many and only government support can make the treatment possible for them. Though on one hand it is true that the Government has to cope and provide medical help for more common illnesses like TB and malaria, it may be worthwhile for the government to set up a separate fund for patients who are often children with these rare illnesses.
There is a strong need to create awareness of these disorders both amongst the lay people and the medical professionals. These children display unusual courage, tenacity, and grace in dealing with extraordinary challenges thrown up by their disease. These children need the support of the society and the Government to so that the life-saving treatment with the enzyme can be provided to them.
Currently, Indus Hospital, National Institute of Blood Diseases, National Institute of Child Health, Children Hospital Karachi, Children Hospital Multan, Nishter Hospital, Children Hospital Lahore, Lahore General Hospital, Military Hospital Rawalpindi, Shaheed Benazir Bhutto Hospital Islamabad in different cities of Pakistan are equipped with LSD diagnosis and treatment facilities.
In many developed as well as developing countries, governments’ support programs provide help to such families to avail free treatment and medication. In Pakistan, major support is needed from the government, which should set up facilities for screening, early, and accurate diagnosis, appropriate enzyme therapy, and rehabilitation to making the patients’ lives more comfortable.