‘I lived my whole life fearing I might bleed to death’: The trials and tribulations of living with Hemophilia

Born in Bihar’s Patna, Chandan suffers from hemophilia A, a rare genetic disorder in which the blood doesn’t clot properly.

“When I think about my childhood days. It’s all dark. I couldn’t play with other kids because when I was not bleeding I used to be scared I might bleed if I moved too quickly. I used to be so scared of the pain. So I used to sit and watch other kids play. I can’t even express the pain I used to experience mentally,” Chandan told Financial Express.com.

Chandan revealed that when he was a kid, there was neither awareness about this blood disorder nor there was any treatment option.

“We had no idea about Hemophilia. Even minor bleeds and cuts used to be very dangerous for me. I was born in 1987 and I finally got diagnosed with Hemophilia A in 1996 in AIIMS New Delhi,” he shared.

During his bleeding episodes, his family used to take him to the nearby government hospital where his bleeding used to be managed by “giving him blood” and he was treated as a ‘suspected hemophilia patient.’

“They used to see my symptoms and say ‘It might be hemophilia’. At that time, Patna didn’t have any facility to diagnose hemophilia so they used to manage my condition with blood products. When we went to AIIMS Delhi, I got to know for the first time that I have Hemophilia but the doctors didn’t tell me what to do and how to manage it,” he said.

However, in 1999, an awareness camp organised by an NGO allowed him to understand his condition and manage the symptoms properly. He also got to know about replacement therapy and how costly they are.

“In case of external bleeding like injuries and cuts, the doctors used to give blood to stop the bleeding. But during internal bleeding…I used to just lay in bed after popping painkillers and suffer and used to wait for the pain to go away. Sometimes, it used to take 30-40 days for pain to go away and the bleeding to stop. Every injury no matter how minor and small they were…they all were dangerous. I didn’t know which injury would become the cause of my death,” Chandan revealed.

As he is suffering from hemophilia A the level of blood protein called factor VIII is insufficient in his body. In mild cases, prolonged bleeding episodes may only occur after surgery, dental procedures or trauma. However, in severe cases, symptoms may include prolonged bleeding from minor wounds, painful swollen bruises, and unexplained or spontaneous bleeding into major organs as well as joints and muscles.

After on-demand replacement therapy slowly started getting available in government hospitals, managing the bleeding became a bit simpler for Chandan. Unfortunately, not for too long.

“…I cleared my engineering entrance examination and got my preferred college, NIT Patna. I wanted to stay close to my home because of my condition. Things became better as on-demand therapy was available during bleeding episodes. But the availability of the factor was a challenge too. Since 2007, I have frequently taken on-demand Factor VIII. I moved to Bangalore for a job. I was able to get the Factor there too,” he said.

After 7-8 years of being on on-demand replacement therapy, his body was not responding to the treatment and the bleeding didn’t stop.

“…The bleeding was not stopping at all even after getting the therapy. I had got inhibitor hemophilia and the body was now immune to Factor VIII. For this complication, the treatment was different and more expensive too and at that time even the government was also not procuring it. My life went back to the previous track and I was again bedridden for months due to bleeding episodes,” Chandan revealed.

As it became difficult for him to manage his condition as well as his job, he decided to quit and go back home.

“For next 3-4 years I stayed at home and if I used to get lucky and I was able to get few vials of therapy to deal with the inhibitors. Then I got to know that if I get a central government job I can get all sorts of therapies through the CGHS scheme. I started preparing for the exams and I got selected for IMD in 2019. During this period, I also got to know that a new therapy called Hemlibra is coming to India which is beneficial for all Hemophilia A patient, and especially inhibitor patients like me. The best part about this therapy is it can be taken just like insulin through the skin and other therapies are taken through veins. So, I got to know that they are enrolling patients for their trial in India and I decided to participate. After I started taking this therapy the bleeding completely stopped,” he informed.

There have been times when I felt that it’s better to die than live like this…in so much pain and being so helpless, he revealed.

On average, a Person with Haemophilia A (PwHA) experiences 30-35 bleeds a year. Each bleed is said to reduce 15 days of life for a PwH with possible complications leading to early mortality or morbidity.

Hemophilia in India

The incidence of Haemophilia A is 1 per 10,000 male births and the country may have roughly 80,000-1,00,000 severe haemophilia cases but only around 21,000 are registered at present.

“Nearly 80 per cent of hemophilia cases are undiagnosed in India due to lack of awareness, lack of diagnostic facilities, and high cost of tests,” Anil Raina, General Manager – Sanofi Specialty Care, India told Financial Express.com.

Raina also informed that most patients are treated by Episodic therapy or On Demand treatment in which factor is given after a bleed, unlike Prophylaxis treatment wherein the factor is given even before a bleed starts, as a preventive therapy. In India, currently, only 4 percent of children are on Prophylaxis.

“The long-term consequences of repeated joint bleeds with sub-optimal treatment are the development of chronic and progressive joint damage and disability. One study by Kar et al conducted at five centres across the country showed that of the 148 patients with severe hemophilia A, only nine were free of disability. The knee joint was affected in all the 148 patients. Of concern was that in the age group of 5 to 12 years, only 15 per cent of patients were disability-free,” Raina told Financial Express.com.

In the absence of access to treatment, there are reports of the use of whole blood by patients with hemophilia, especially in remote areas. Patients with hemophilia, therefore, remain vulnerable to transfusion-transmitted infections (TTI), he revealed.

In India, lack of access to treatment remains a major factor that severely compromises the quality of life of patients.

“The annualized bleeding episodes for patients with severe haemophilia A were 10.8, implying that a patient with severe haemophilia A may bleed as frequently as 11 times in a year. Only one-fourth of bleeding episodes were treated with clotting factor concentrate. The data reveals that India has one of the lowest usage of treatment product,” Raina told Financial Express.com.

According to Dr Naresh Gupta, Chairperson, The Haemophilia and Health Collective of North (HHCN), in India, prophylaxis adoption is estimated at 4 percent, whereas in most other developing countries it is over 20 percent and in developed countries, 80-90 percent haemophilia patients are on prophylaxis.

“Without access to treatment, patients with haemophilia experience frequent absenteeism from school and work, as physical activity is limited due to the extreme pain and discomfort associated with the haemorrhagic episode. The consequence of chronic bleeding episodes and poor education was apparent in the overall proportion of unemployed patients aged above 18 years of age, which was 51 per cent,” Raina said.

India is home to potentially ~1.4 lakh people living with Hemophilia A (PwHA), most of them being undiagnosed. A majority of these patients are either children or in their youth who are unable to live a healthy, productive life because of the disease.

“Imagine this: In India, only 4 percent receive prophylactic treatment, compared to the global average of 96 percent. This discrepancy is exacerbated by underdiagnosis, with an estimated 80 percent of cases remaining undetected. Challenges include low awareness of prophylactic benefits, lack of diagnosis facilities, false perceptions of high treatment costs of prophylaxis, and the absence of state-level protocols for disease management,” V Simpson Emmanuel, CEO and MD, Roche Pharma India told Financial Express.com.

Living with Hemophilia

Now that my bleeding episodes are under control, life is much better than what I used to experience when I was a kid, Chandan revealed.

“But my joints are damaged and they will never get better. The physical damage caused by hemophilia is irreversible. My both hip joints are damaged and one of my knees and ankles is damaged. If I had got treatment at the right time this wouldn’t have happened,” he added.

Socioeconomic repercussions of Hemophilia are profound, with 36 percent of patients dropping out of school due to bleeding episodes and 51 percent of adults remaining unemployed due to absenteeism, Emmanuel explained. Studies estimate that each bleed reduces life by 16 days for a person who has Hemophilia.

The biggest challenge a PwHA faces is disability stemming from joint bleeds. Current on-demand treatment options like episodic Factor VIII replacement and bypassing agents are grossly inadequate due to the risk of developing inhibitors, inconvenience of intravenous administration, higher chances of bleeding episodes leading to joint disability.

“When we started the treatment in 2007…we were the first ones in the state and in the government’s setup…when the patients would walk into our center into a clinic. I felt so sad. They were young…most of them 10 years, 12 years, six years, 15 years. Nearly all of them were disabled. They would walk in not straight; they would walk in with deformed joints. Elbows will be swollen…So, their plight was very, very sad,” Dr. Gupta told Financial Express.com.

Dr. Gupta is currently an Advisor for Hemophilia, Govt. of NCT Delhi and Medical Consultant, Maulana Azad Medical College, New Delhi. He has played a crucial role in India’s hemophilia landscape. His initiative, Hemophilia Day Care Centre (HDCC) at the Lok Nayak Hospital, Delhi has improved the lives of many hemophilia patients. Established in 2008, the centre has also received global recognition and appreciation from the World Federation of Hemophilia.

Earlier, Dr. Naresh and his team used to provide a certificate stating their haemophilia condition and emphasised on the need for support and monitoring.

“…At that time, we needed not only to give them drug treatment, by replacing the factors missing protein clotting factors, but we also needed to give them support to manage their morbidities and disabilities, not only physical but also mental and social,” he said.

Chandan also shared that due to lack of awareness and treatment options, he not only suffering physically but mentally too.

“Nobody can imagine the pain that I suffered during these internal bleeding episodes and nobody was able to do anything about it. The painkillers were useless and there have been occasions when I couldn’t sleep for over a month because of the excruciating pain. I used to dread that even the slightest movement could trigger the bleeding and I would be in pain again. My life used to come to a halt,” he told Financial Express.com.

He also shared instances from his childhood when he was bedridden after bleeding episodes for more than a year which adversely affected his studies.

“In 1995, there was one such bleeding episode in one of my knees and I couldn’t go to school for one and a half years. This knee is still there even after all these years. I can’t fold my knees anymore. When I was in Class 10, I had a massive bleed in my elbow and I was 250 IU factor and its cost was around Rs. 8000-9000. Then I got to know about Plasma therapy and the government had made it free for hemophilia patients,” he said.

Dr. Naresh shared that over the years things have improved for the patients. However, there is still a long way to go. He also explained that now it’s rare to see patients with tumours and disabilities.

“…If you come to our Haemophilia Centre, now, you will not see any such scenario, you don’t even see tumors, you don’t see disabilities so much…if we continue giving the appropriate treatment, as per the standard of care, soon, we will not have any disability from it,” he said.

Unless we create the right diagnosis, they will not get the right treatment, Dr. Naresh emphasised.

How the treatment of hemophilia has evolved in India?

In the recent year, various medical advancements in the treatment of Hemophilia have led to the development of safer options and even potential cures.

In February this year, Union Science & Technology Minister (Independent Charge) Dr. Jitendra Singh announced that India has conducted the first human clinical trial of gene therapy for haemophilia A (FVIII deficiency) at Christian Medical College (CMC) Vellore.

Since the late 1950s replacement therapy has been the standard of care for hemophilia. Over the years, the main improvement is the availability of safe options to replace the missing clotting factor and restore hemostasis.

According to a 2022 study published in the Research and Practice in Thrombosis and Haemostasis journal, although replacement therapy using plasma-derived or recombinant products has been considered the cornerstone for hemophilia treatment, they are extremely costly requires burdensome frequent intravenous injections, and has the risk for development of inhibitors.

Moreover, poor adherence and access to adequate treatment for people with hemophilia worldwide continues to be a challenge.

Interestingly, Emicizumab, sold under the brand name Hemlibra, is the first nonfactor therapy for hemophilia A, and it has changed the hemophilia care scenario. Emicizumab is the first and only nonreplacement agent to be licensed for prophylaxis in people with hemophilia A.

In 2019, Roche launched the therapy for Hemophilia A patients in India.

Interestingly, since emicizumab was approved, new activated FVIII mimetic bispecific antibodies have been developed, such as BS-027125 (Bioverativ, Waltham, MA, USA)39 and Mim8 (Novo Nordisk, Bagsvaerd, Denmark).

It is noteworthy that these novel agents, such as extended half-life concentrates and emicizumab, have been available in resource-constrained countries through the World Federation of Haemophilia Humanitarian (WFH) Aid Program. India is the largest recipient country for the WFH Humanitarian Aid Program.

“Hemlibra represents a revolutionary advancement in the management of hemophilia A, offering superior clinical outcomes and cost savings compared to traditional treatments. Tackling a disease of such magnitude, requires immense effort towards awareness creation, policy advocacy, health ecosystem shaping, capacity strengthening and providing support to patients and their caregivers at every step of the treatment journey. We have made significant strides in bringing the conversation on hemophilia A into the forefront and driving access through various efforts in partnership with PAGs like Hemophilia Federation of India (HFI),” Emmanuel told Financial Express.com.

Despite all the recent advancements, the main challenge remains the same: to guarantee treatment for all. To improve the status, several pharmaceutical companies continue to help increase access to treatment through the Humanitarian Aid Program.

“Sanofi, together with Sobi, have donated 810 million IUs of factor therapy since 2015 which have helped treat more than 260,000 acute bleeds and allowed more than 2,800 people to be treated with prophylaxis. In total, more than 21,000 people around the world have been treated with donated factor therapy,” Raina told Financial Express.com.

Through the World Federation of Hemophilia (WFH) Humanitarian Aid Program, Roche is collaborating globally to provide Hemlibra to as many as 1,000 people with hemophilia A over five years in locations where there is little to no access to haemophilia treatment, Emmanuel claimed.

In December last year, Hemophilia & Health Collective Of North (HHCN) in collaboration with National Health Mission (NHM) representatives from 16 states recently published a guideline that advocates the use of prophylaxis in comparison to episodic or on demand therapy.

Given the current treatment landscape and the disease burden in our country, a prophylaxis therapy with a factor or non-factor therapies should be the Standard of Care,” Emmanuel emphasised.

According to Emmanuel, the aim for management of hemophilia A should be to eliminate all preventable bleeds regardless of disease severity and help to achieve zero bleeds.

“Today, there are prophylactic drugs that can help PwHA with a good quality of life. Hemlibra, the world’s first bispecific monoclonal antibody that works as a prophylaxis for the treatment for Haemophilia A has ensured that 1350+ PwHA in India can uninterruptedly pursue their life dreams and goals,” he told Financial Express.com.

What are the challenges of Hemophilia patients?

India is home to the second largest population of PwHA and yet the adoption of prophylaxis as a standard of care is only at 4 percent compared to the global average of 96 percent.

According to Emmanuel, another important aspect is that this disease predominantly affects males in their childhood and in their youth, adversely impacting their ability to be productive, be gainfully employed and contribute meaningfully towards our economic development. In short, hemophilia has a debilitating effect on our country’s economic progress and demographic dividend, he explained.

“Hemophilia patients in India encounter various challenges, including delayed diagnosis, poor levels of disease awareness, lack of coagulation screening facilities and limited access to prophylactic treatment, leading to a large untreated patient population pool, and severe socioeconomic consequences like school absenteeism and unemployment. Additionally, due to chronic bleeding episodes, they could also suffer from permanent disability, which in itself can lead to serious physical and psychological consequences,” Emmanuel told Financial Express.com.

Currently, Chandan works for the India Meteorological Department and he lives in Delhi.

“When I started working at IMD and I was able to get Hemlibra for free through CGHS. For the last 5-6 years there has been no bleeding episode. It is an extremely costly therapy and it is not at all possible to buy this from the market. I am getting this treatment for free due to the CGHS but for those who don’t have such support, it is a challenge. Hemophilia comes with a lot of financial burden along with emotional, mental, physical and social hurdles,” he told Financial Express.com.

According to Chandan, deteriorating disability is the biggest challenge of hemophilia.

“If people don’t get treated on time, it leads to disability and it keeps getting worse and eventually, your muscles will get weak too,” he highlighted.

What lies ahead?

A 2022 study published in the Research and Practice in Thrombosis and Haemostasis journal, as many new therapies are under development or ongoing preclinical and early-phase clinical trials, the situation seems promising for patients of hemophilia.

Moreover, providing comprehensive care including prophylaxis, physical therapy, pain management, and strategies for preventing bleeding can play a crucial role in improving patient outcomes.

However, the absence of state-level management protocols exacerbates this situation, Emmanuel explained. According to him, to address these issues, raising awareness about the benefits of prophylaxis and making it the standard of care, addressing the perceived cost barriers, and establishing robust protocols for patient management are crucial.

“Policy makers, government authorities, public health ecosystems and PAGs can play a pivotal role in advocating the use of prophylaxis as a SoC in treating Hemophilia A. A recent significant policy step forward was made in this area when the 1st national guideline from the national expert; HHCN (Hemophilia & Health Collective North) recommended prophylactic as the SoC for effectively managing the disease. We need more such policy bodies to take such momentous steps forward to reduce the burden of hemophilia A within our country,” he said.