Jagruti Rajendra Sanghvi, Co-founder of the Indian Porphyria Association and a rare disease survivor, urges for national access to Hemin, the only effective treatment for Acute Intermittent Porphyria (AIP).
Jagruti Rajendra Sanghvi’s diagnosis for Acute Intermittent Porphyria (AIP) came after nearly four years of severe and unexplained abdominal pain, repeated hospitalizations, and extensive misdiagnoses ranging from hormonal imbalance to psychological stress. AIP often presents with multisystemic symptoms such as muscle weakness, confusion, anxiety, tachycardia, and in extreme cases, even coma and paralysis.
Acute Intermittent Porphyria (AIP) is a rare genetic metabolic disorder that severely impacts the nervous system. It is known to affect 1 in 10,000 to 1 in 20,000 individuals predominantly among females aged 18–45 years.
“Most doctors in India have never even heard of Porphyria, let alone recognize or treat it,” Sanghvi stated. “It took years of suffering and disbelief before I finally had a name for what I was enduring.”
Symptoms: Human Cost of an Invisible Disease
Patients diagnosed with AIP often suffer in silence, as the disease is both rare and misunderstood. The symptoms, invisible from the outside, include:
- Constant nausea
- Breathlessness
- Irregular blood pressure
- Brain fog
- Light sensitivity
- Severe abdominal pain
- Constant vomiting
- Muscle pain and weakness
- Breathlessness
- Irregular heart rate
- Painful urination
- Confusion and memory loss
- Anxiety, mood swings, and insomnia
- Menstrual irregularities
- Food and drug sensitivities
- Fatigue
Many, including Sanghvi, struggle with emotional and psychological side effects such as anxiety and insomnia. Beyond the physical toll, the disease also places a burden on families, work, education, and mental health. “I lost most of my childhood to pain and hospital beds,” Sanghvi recounts. “It was only because of my parents’ unwavering support that I held on.”
Porphyria Types:
Porphyrias are of two broad types:
- Acute intermittent porphyrias (AIP)
- Cutaneous porphyrias
AIP Sub-Types:
- Acute Intermittent Porphyria (AIP)
- Variegate Porphyria (VP)
- Hereditary Coproporphyria (HCP)
- ALAD-Deficiency Porphyria (ADP)
Cutaneous Porphyrias Sub-Types:
- Erythropoietic Protoporphyria (EPP)
- X-Linked Protoporphyria (XLP)
- Porphyria Cutanea Tarda (PCT)
- Congenital Erythropoietic Porphyria (CEP)
- Hepatoerythropoietic Porphyria (HEP)
Hemin for AIP:
Acute Intermittent Porphyria (AIP) patients in India continue to face life-threatening complications due to the unavailability of Hemin (Panhematin)—the only globally recognized treatment for acute attacks. Calling attention to this urgent healthcare gap, Jagruti Rajendra Sanghvi, Co-founder of the Indian Porphyria Association, has appealed for immediate regulatory and policy measures to make the drug easily accessible within the country.
Despite being the only globally accepted therapy that can stabilize patients during acute Porphyria attacks, Hemin remains unavailable domestically making on to rely on imports, leaving patients vulnerable to life-threatening symptoms.
The absence of Hemin in India’s pharmaceutical system means patients are forced to rely on palliative care or costly imports—an option that remains out of reach for most. Sanghvi’s personal attacks, often disabling and painful, could have been managed or mitigated if the drugs are easily available at affordable cost. Currently, this drug is available through imports but it involves paper work and comes with some hassles. “Yes. When I first ordered, it was stuck in the custom for 15 days.”
Hemin Costs
According to Jagruti, the cost of Hemin per bottle in India is around ₹251,567 (€2,540) and it has to be imported. It may be recalled that custom duties have been waived for import of drugs meant for treating Acute Intermittent Porphyria by the Union Finance Ministry as per a Gazette notification issued on 29 March, 2023.
From Suffering to Advocacy
Determined to help others avoid a similar ordeal, Sanghvi co-founded the Indian Porphyria Association along with Dr. Bharat Patel. The organization has set forth key objectives:
- Raise national awareness of Porphyria among healthcare professionals and the public
- Build an emotional and medical support system for patients
- Advocate for the inclusion and affordability of Hemin in Indian healthcare policy
- Create a united patient community
Through these efforts, the Association hopes to shift AIP from obscurity to recognition in Indian medical discourse.
Urgent Need for Policy Change
Global health systems in countries such as the United States, Germany, and the United Kingdom have recognized Hemin as the standard of care for acute Porphyria attacks. In contrast, Jagruti says that India’s drug approval and distribution frameworks have yet to include the treatment on essential drug lists. Currently, this orphan drug is not included in India’s National List of Essential Medicines (NLEM) 2022.
Experts and patient advocates warn that without timely intervention, the continued unavailability of Hemin could result in preventable deaths and irreversible damage to patients’ nervous systems.
Porphyria, though rare, is a devastating illness that demands immediate attention. Advocates like Jagruti Rajendra Sanghvi are calling on policymakers, pharmaceutical companies, and health institutions to recognize the plight of patients and expedite the availability and affordability of Hemin in India.
“To every patient out there feeling lost—know that your pain is real. Speak up, connect, and don’t give up,” Sanghvi urged.
Those affected by Porphyria are encouraged to reach out to Jagruti led Patients’ Support Group for information & guidance.
- Jagruti Rajendra Sanghvi, Co-founder of the Indian Porphyria Association, urges for national access to Hemin, the only effective treatment for Acute Intermittent Porphyria (AIP).
- Diagnosed after years of misdiagnosis and suffering, her journey highlights the urgent need for awareness and policy reform.
- The Association now advocates for patients, aiming to make the invisible disease visible to the healthcare system.
She can be reached at indianporphyriaassociation@gmail.com
