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Spotlight on pathetic plight of children with rare diseases
View(s):By Kumudini Hettiarachchi
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Are they children of a lesser god, is the devastating concern of numerous parents scattered across Sri Lanka who are struggling to bring up their precious sons and daughters affected by Inherited Metabolic Disorders.
The combined incidence of Inherited Metabolic Disorders worldwide is 1 in 784 or 1 in 1000, the Sunday Times learns. Therefore, with the total number of births in Sri Lanka in 2024 being 228,091, the estimated number of children being born with Inherited Metabolic Disorders per year would be 220 children.
It is at the launch of ‘Metabolic Support Sri Lanka’ by the Rare Diseases Forum of the Sri Lanka College of Paediatricians (SLCP) on March 4 that the dire need to ease the burden of these parents was put under the microscope.
When the Sunday Times contacted several parents, their plea to the government was heartrending. The father of Adesh, Jeya Kumar says that enzyme replacement therapy which is his 14-year-old’s only option, is just a dream for his family as it is not available in Sri Lanka.
Adesh who is doing well in school in Bandarawela and is talented at crafts is living with Mucopolysaccharidosis Type II (MPS II) or Hunter Syndrome, a progressively debilitating disorder.
Similar issues are echoed by the mother of a 20-year-old with Homocystinuria, who lives in Galle…….“If only, if only, the medications are available even for us to buy,” is her plea.
The heartbreaking stories flow forth from different parts of Sri Lanka, a country which is very proud of its health system and is cited as a model for many others.
Dr. Imalke Kankananarachchi
On March 4, hope reverberates for these parents and their children who are feeling abandoned, when the Deputy Minister of Health, Dr. Hansaka Wijemuni assures that as the Health Ministry “we will liaise closely with doctors and make every possible effort to support affected children and their families”.
He talks of Sri Lanka’s commendable achievements in the field of maternal and child health and that with the annual number of births decreasing from over 325,000 prior to 2020 to around 230,000 in recent years, every child is increasingly precious to families and society.
“Sri Lanka has made notable progress in reducing deaths related to prematurity, congenital heart disease and sepsis. Nevertheless, rare inherited disorders have not received comparable priority. In the recent national budget, Rs. 555 billion has been allocated to the health sector, reflecting continued governmental commitment to healthcare development,” he says, adding that efforts will be made to change this.
Dr. Dedunu Dias
Referring to Inherited Metabolic Disorders in Sri Lanka, Consultant Paediatrician Dr. Imalke Kankananarachchi attached to the Galle National Hospital brought under the spotlight several challenges faced by those affected. He is the Secretary of the Rare Diseases Forum of the SLCP.
Underscoring that children with rare disorders have very limited access to treatment in Sri Lanka, he zeroed-in on the diagnostic and management issues faced by them.
The challenges Dr. Kankananarachchi shows are:
Unavailability of essential medications due to lack of suppliers– some children require low-cost medications as well as vitamins and cofactors.
Dr. Rajesh Sambhajirao Pandav
When these medications are ordered on an individual patient basis, the Medical Supplies Division (MSD) finds it difficult to identify suppliers due to very low demand. Since these medicines generate minimal profit, they are usually not available in the private sector, making local purchasing difficult.
In many instances, these medications are only available as combined multi-vitamin formulations, which may not meet the specific therapeutic needs of the patient.
These include: for Homocystinuria – Betaine Hydrochloride; for Organic Acidemia – Levocarnitine; for Biotinidase Deficiency – Biotin; for Cerebral Folate Deficiency – Folinic Acid; for Fatty Acid Oxidation Disorders – Riboflavin; for Maple Syrup Urine Disease – Thiamine; and for Urea Cycle Disorders – Sodium Benzoate.
Unavailability of treatment due to high cost– some rare disorders require expensive therapies, particularly enzyme replacement therapy. In such a situation, pharmaceutical companies are usually willing to supply the medication because treatment is lifelong and commercially viable. However, the cost of therapy is often beyond the capacity of government health systems.
Prof. Pujitha Wickramasinghe
Some examples include: for Gaucher Disease – Imiglucerase; for Mucopolysaccharidosis (MPS) I – Laronidase; for MPS II – Idursulfase; for MPS IV A – Elosulfase alfa; and for Niemann-Pick Disease type B – Olipudase alfa.
Lack of availability of borderline nutritional products – certain rare metabolic disorders require specialised medical nutritional therapy. These essential supplements are not available in Sri Lanka.
Some examples are: for Phenylketonuria – Large Neutral Amino Acids (LNAAs) & Glycomacropeptide (GMP); and for Maple Syrup Urine Disease – Branched Chain Amino Acid (BCAA)-free amino acid formulas with isoleucine and valine supplementation.
Barriers to diagnostic services– certain overseas laboratories provide free diagnostic services for patients in Sri Lanka. In many cases, dry blood spot (DBS) samples can be sent to these laboratories for diagnosis. However, DBS test kits must be registered as medical devices before they can be imported. Companies are often reluctant to register these kits, as the demand is low and the process does not generate adequate profits.
Dr. Kankananarachchi pointed out how the MSD, on his request, made an order about two years ago for a particular medication. Since only five children were on the list for these medications, no supplier was willing to import a low-cost drug because it was not profitable.
This has left children in a bad state, he said, requesting the Health Ministry to create a pathway to notify these disorders to facilitate policy-making, while filling the lacuna of a lack of statistics.
Prof. Ruwanthi Perera
Kirsty Hoyle
He suggested that the LRH’s Central Metabolic Laboratory should be equipped so that it could conduct some tests like ammonia; urine organic acid profile; and plasma amino acid profile while ammonia testing should be available in one lab in each province.
There should also be a pathway, in keeping with legal requirements to liaise with overseas laboratories for very rare tests. Support for genetic diagnosis should also be forthcoming from the government, added Dr. Kankananarachchi.
Those present at the launch included the Director of the MSD, Dr. Dedunu Dias; the World Health Organization (WHO) Representative to Sri Lanka, Dr. Rajesh Sambhajirao Pandav; SLCP President Prof. Pujitha Wickramasinghe; and SLCP’s Rare Diseases Forum President, Prof. Ruwanthi Perera. The Chief Executive Officer (CEO) of Metabolic Support UK, Kirsty Hoyle, and several of her colleagues joined online.
| What can be done to help affected children Here are the urgent suggestions by Dr. Imalke Kankananarachchi to support children with rare diseases. With many pharmaceutical companies providing humanitarian access programmes for patients under 18 years, the government should facilitate obtaining these treatments through charitable or humanitarian pathways. The government should facilitate the direct purchasing of food supplements needed by these children, from neighbouring countries such as India. Establish a special regulatory pathway to facilitate the importation of dry blood spot (DBS) kits for diagnostic purposes and enable government or academic institutions to import them directly for clinical use. | |
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