Rare Community Profiles

Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

How Madhumita’s Scimitar Syndrome Diagnosis Empowered Her to Understand the Importance of Mental Health

For the last eleven years, Madhumita Bhattacharya has been working as a psychologist with a particular focus on counseling people and families facing rare disease, chronic illness, or mental health issues. She has actively taken on cases where she could provide support, understanding, peace, and a place to talk about and address those fears that often go unsaid. Madhumita knows how important it is to care for not just your physical health, but your mental health as well, especially given her own experience of living with a rare disease: Scimitar syndrome. She shares:

“A health condition, especially a chronic one, is very stressful. It takes over your life, which oftentimes means that you’re left out or isolated from your peers because you cannot participate as much. This is why I really support the idea that people facing chronic illness should have access to mental health support from the very start of their journey.”

Madhumita’s own journey has been long and sometimes arduous; although her doctor suggested that Scimitar syndrome could be a possible reason for her diagnosis behind right lung hypoplasia when Madhumita was just 9-10 months old, her diagnosis was not officially confirmed until 2019. But this has not stopped her from trying her best to be an advocate—for herself and for others within this community.

Recently, Madhumita sat down with Patient Worthy to discuss her journey, share what Scimitar syndrome is, reflect on the importance of mental health, and offer advice to those facing a rare disease diagnosis.

Madhumita’s Story

Madhumita was born into a warm, loving home. Her family was so excited to see their baby girl and to start their lives together. But Madhumita began facing nearly immediate health issues. When she was just three months old, doctors discovered that her lungs were hypoplastic. She explains:

“I have a very small right lung that almost doesn’t function, so I technically survive on my left lung. The artery, on the right, that supplies blood from the heart to the lung is also non-functional.”

Doctors, concerned about the lung hypoplasia, went through quite a few rounds of diagnoses and several rounds of treatment. They eventually determined that Madhumita had right lung hypoplasia and that her heart was in the right side. However, the words “Scimitar syndrome” were never really shared with her family.

As Madhumita grew older, she struggled with her lung function but found comfort in her favorite activities. She loved dancing and relished the freedom that it gave her as she swirled, spun, and moved across the stage. At the same time, she often had difficulty keeping up with her peers. Her lung condition meant that she could not participate in sports. Sometimes, she would also have to miss school because of her health problems. Madhumita shares:

“In all of those things, you can’t really do what your peers are doing and you feel those difficulties affecting you every day. It’s hard to get as much social and family support when people don’t understand what the condition is. I felt isolated, alone, and left out. It was also hard for my family. I saw my parents going through a tough time emotionally as they tried to figure out what would happen or if I would be okay.”

Madhumita would sometimes cough so badly that her parents were worried she would choke. Other times, she would run a serious fever; often during midnight, her elder sister would be checking whether Madhumita was breathing.

Even as she moved into higher education and her career, her health was a rollercoaster journey. She explains:

“I would fall sick frequently with coughing, colds, and lung infections. Sometimes I had to be hospitalized for lower respiratory tract infections. I would cough so hard that I would start bleeding from my throat and lungs. During my journey, I also learned that I have fibromyalgia. I can’t even describe the pain of it and how difficult it can be on certain days.”

Receiving the Diagnosis

In 2019, Madhumita was working in a hospital setting when her health suddenly worsened. She experienced a flare of lung infections; although the infection subsided after 2-3 rounds of antibiotic and steroid treatments, the symptoms still remained. Her chest would ache with even the slightest of physical activity. She was constantly out of breath and even just traveling to work was exhausting. Her husband was constantly supporting her every single day as she could hardly walk.

These weren’t her normal symptoms, so Madhumita and her partner pushed her doctors for additional testing. While her lung reports seemed fine, she was referred to a cardiologist for an echocardiogram. This, she says, was the first time that any doctor identified that Madhumita had a pulmonary vein that wasn’t working properly. She explains:

“Whatever blood goes to the right lung was reoxygenated, but this re-oxygenated blood was not getting supplied back to the heart. Instead, it was getting supplied to the inferior vena cava. As it mixed with deoxygenated blood, it was creating a loop. This is putting a lot of pressure on my heart and lungs as it has to overwork creating health problems.”

After examining the basic structural problems of the heart and lungs, and identifying structures that looked surprisingly like a scimitar sword, doctors believed that Madhumita had Scimitar syndrome. A further series of tests eventually confirmed this.

What is Scimitar Syndrome?

Also known as hypogenetic lung syndrome, Scimitar syndrome is a rare congenital heart defect which occurs due to the abnormal arrangement of pulmonary veins. People with Scimitar syndrome have a hypoplastic, or underdeveloped, right lung with a hypoplastic right pulmonary artery. This condition also causes some, or all, of the pulmonary veins to drain into the inferior vena cava. An estimated 1-3 in every 100,000 infants is born with this condition. Scimitar syndrome is 2x more common in females than males. Symptoms of Scimitar syndrome can include:

• Rapid breathing
• Frequent or recurrent lung infections
• Respiratory distress
• Pulmonary hypertension
• Shortness of breath and/or difficulty breathing
• Swelling of the legs, abdomen, or around the eyes
• Retracted rib cage muscle
• Cyanosis (pale or bluish skin or lips)

Scimitar Syndrome Treatment Options

Currently, the most common way to treat Scimitar syndrome is through heart structural repair surgery. Some infants born with this condition undergo surgery within 1-2 weeks following birth. However, early diagnosis is crucial for the surgery to be both safe and effective.

When Madhumita learned that she had Scimitar syndrome, she went back through her previous medical reports. She found a note from when she was nine months old on which the pediatrician had clearly written three possible reasons for her lung hypoplasia; Scimitar syndrome was one of them. However, any time the family met with doctors later in life, including some of the best pulmonologists and cardiologists in the country, none of them evaluated Scimitar syndrome as a possible diagnosis. Says Madhumita:

“What I’ve read and understood is that Scimitar syndrome is one of the major reasons for lung hypoplasia, but nobody thought that needed to be ruled out. Even for doctors, it is worth ruling out the different diagnosis. It is worth exploring all the different areas so a patient can get a complete picture and a thorough understanding of their condition.”

Because Madhumita was not “officially” diagnosed until 2019, she is not able to undergo heart structural repair surgery because it would not be safe. She shares:

“If I was diagnosed as an infant, my doctors say I probably could have had the surgery. Things would have been much better for me than it is right now. But because of this negligence, there’s no possibility. No doctors looked at the complete picture of my health even though it was right in front of them. I don’t want anyone else to have to go through this difficult journey to just receive a diagnosis and get help.”

Managing her Condition

Although Madhumita’s journey has been very difficult throughout, she has worked tirelessly to advocate for increased medical research, awareness, and support. She explains that in countries like India, where she lives, there aren’t many specialized doctors for treating Scimitar syndrome or there is a general lack of research about rare conditions. Upon diagnosis, one thing she hopes is that doctors can provide a more comprehensive and nuanced picture of what it means to live with a certain disease. Madhumita had to do a lot of research herself.

After she received her diagnosis, doctors suggested that she undergo an embolization procedure for treatment. Unfortunately, the COVID-19 pandemic soon swept the globe. Madhumita’s procedure was put off for over two years; it wasn’t until April 2022 that she finally had the embolization complete. She shares:

“I do understand that doctors did not want me to become infected with the coronavirus. But it was a very difficult two years of constant symptoms.”

The embolization has helped reduce Madhumita’s symptoms to some extent, giving her more daily freedom and flexibility. However, some of her symptoms do sometimes pop up, especially if she is being physically active. She says:

“Sometimes it is hard to know exactly what is triggering my symptoms, but most often it has been when I’m participating in a physical activity. Even chores can set it off. I get breathlessness and have chest pain. My oxygen saturation doesn’t drop but it means that I have to take more puffs of my inhaler and longer naps to calm my heartbeat down.”

Not every day is easy. But Madhumita knows that she has the support of her family and her husband behind her. With a smile, she says:

“I’m so grateful for all of the support I get at home. My husband is really understanding and thoughtful.”

Advice for the Newly Diagnosed

Madhumita hopes that her story and her journey will not just inspire change in the medical field but will help others with rare conditions know that they are not alone. To help others, she offers advice. Her first piece of advice, she says, is:

“Every case of Scimitar syndrome is different. Some people have multiple complications or multiple organ involvement. Others have a range of symptoms. Have as many consultations as possible to get a clear picture of what you are facing. Work with a team of integrated professionals who can collaborate to determine the best move forward. There’s a chance that some of what you say might get ignored. When doctors told me I had clear lung reports, I kept asking questions. I have had comments from doctors that ‘It’s all in your mind, you aren’t really having a symptom’. Yet, I kept pushing them since those symptoms weren’t normal and this eventually led to further investigations and then the diagnosis. So, ask questions, as many as you need, until you are satisfied.”

Madhumita adds that a lot of doctors often dismiss the symptoms mentioned by rare disease patients. She mentions just because the textbook doesn’t mention a particular problem or symptom doesn’t mean it can’t happen. Remember, these are rare conditions and thus not well studied yet due to scarcity of patients for each condition and also the fact that very few research is being done.

She also has a reminder for doctors: that your patients with a rare condition are living with the condition mostly from birth; they can understand a change or a new shift happening in their body in a way that no one else can. So, trust your patients and acknowledge the symptoms; even if there isn’t anything else happening, help them calm down. Anxiety can play a huge role, especially given that life is already tough and these diagnoses can come with a never-ending fear of new symptoms or worsening disease. Compassion is key for patients.

Next, Madhumita reasserts the importance of community and mental health. She urges people to join Facebook groups to connect with and learn from others with Scimitar syndrome around the world. The personal mental health journey is also extremely important:

“A rare or chronic illness is such a difficult thing to face and it’s so important to take care of your mental health just as much as your physical health. If you are diagnosed later in life, or your child is diagnosed, know that this is not the end. You can still have a normal life, but your normal might just be a little different.”

Madhumita wants to help in starting conversation around scimitar syndrome and rare diseases to help her own journey can influence others and it brings in a positive wave of change and more and more people view rare diseases with a more empathetic way. So, if you have Scimitar syndrome, or a rare condition, and would like to connect with Madhumita, please contact [email protected] and she can facilitate that connection.