By Samachar Digital News
Chandigarh, February
14th, 2020:- Worldwide,
the month of February is observed as Rare Disease Awareness month. Rare
diseases are serious, chronic, debilitating and life-threatening, often
requiring long-term, specialized treatments and management. Most of the rare
diseases especially treatable Lysosomal Storage Disorders (LSDs) are chronic in
nature and require lifelong treatment having positive impact on patient lives.
The event, organized by Lysosomal
Storage Disorders Support Society (LSDSS) along with Health & Family
Welfare Punjab at Parivar Kalyan Bhavan, Chandigarh aimed at raising awareness
about rare diseases, specifically LSDs such as Gaucher, Fabry, MPS I etc.
Eminent stakeholder’s including Dr.
Inusha Panigrahi, Senior Geneticist and Prof. Genetic-Metabolic Unit, Dept. of
Pediatrics, PGIMER, Chandigarh, and Dr. Arvind Chabbra, State Coordinator, LSDSS spoke about the
various aspects of LSDs, its impact on families and caregivers, their long-term
management and the challenges. Many patients along with their families came
together to observe and raise awareness of rare diseases and contributing to
the society at large in which no one is left behind.
The event also highlighted the
challenges faced by the families with LSDs and the plights of the patients who
are yet to receive treatment support from Government. In January 2018, the
Punjab State Government formed a State Technical Committee (STC) for rare
diseases based on earlier National Policy on Treatment. Basis the STC meetings,
4 LSD patients were evaluated and forwarded to Central Technical Committee for
further consideration. However, no heed was given to patient applications and
policy of 2017 was kept in abeyance. Over the last 2-3 years, 6 to 8 LSD
patients have been diagnosed and need immediate attention.
Recently, the MoHFW released draft
of National Policy for Rare Disease 2020.The policy is far from reality and
lacks genuine interest in providing the much-needed treatment to the
“treatable” LSDs as listed in category 3 disease list.
Manjit
Singh, President, LSDSS said that we have been working tirelessly over the last
10 years for patients and families that are affected with LSDs. The central
government has released National Policy for Rare Diseases twice with a special
mention of treatable LSDs. Unfortunately, nothing significant has come up for
patients suffering with LSDs in terms of their treatment. In the recent draft
of National policy for Rare Disease 2020, Enzyme Replacement Therapy (ERT) is
mentioned to have shown significant results and can help patients lead near
normal lives and become productive members of the society. The crowd-funding
mechanism suggested by the MoHFW is just a temporary arrangement and has no
clarity on its implementation. Since the number of patients in the State
of Punjab is handful, the health department should support the treatment needs
of these patients.
Manjit Singh also
added, “One such example of timely intervention is Dr. Arvind Chabbra a Fabry
disease patient in the state of Punjab. He was diagnosed on time and received
timely treatment which helped him achieve his goals of becoming a doctor.
Dr. Inusha Panigrahi, Senior
Geneticist and Prof. Genetic-Metabolic unit, Dept. of Pediatrics, PGIMER,
Chandigarh, said that patients suffering from rare diseases, especially LSDs, often lead an incapacitating
life. These are primarily caused due to defect in the genes of a human body. A
defective gene does not allow producing an enzyme that is required for the
cells to function leading to multi-system defects to deficient or dysfunctional
enzymes. A high index of suspicion for rare disorders leads to early referrals
and appropriate evaluation and confirmation of diagnosis. In severe disorders,
prenatal diagnosis can prevent the recurrence in the affected families.
The objective should be to identify the treatable disorders and manage accordingly.
Enzyme Replacement Therapy (ERT) is now available for more than a handful of
disorders as a treatment modality. It has had a positive impact on the life of
many patients.
Health being a state subject, a state
level intervention for treatment would save the life of children suffering from
life threatening rare diseases. Through such programs, rare disease patients in
Punjab are hopeful to witness a positive development on the treatment support
soon.
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