Meet Leah, a bright and beautiful girl who loves barbies, dancing and playing dress up, and looks like what society would label as a ‘normal kid’. But actually, she suffers from a rare disease that affects just one in a million people: pulmonary hypertension. We spoke to Leah’s mum, Mariella, to learn more about her condition and to raise more awareness about it on our islands.

“Leah was diagnosed when she was nine months old. By that time, her heart’s right side had already been enlarged, which they could see from an x-ray and confirmed through an echo. Leah’s arterial pressures were 90 at that time (the maximum is 25). So she was very sick,” Mariella tells us.

What is Pulmonary Hypertension?

“PH is an invisible, rare, progressive and incurable disease and is basically high blood pressure in the arteries of the lungs. It doesn’t have any connection to what we refer to as common blood pressure. It causes the arteries in the lungs to close up, making it harder for the right side of the heart to pump blood into the lungs to pick up oxygen. The extra pumping puts the right side of the heart under strain and causes the heart to not work properly, leading to heart failure,” Mariella explains.

Since there is a lack of oxygen in the body, people with PH suffer from severe breathlessness, dizziness, fainting, loss of consciousness, and unfortunately, even death.

Leah’s condition

“Just by looking at Leah, you wouldn’t notice that she has a life-threatening disease, but she does. PH affects one in a million people, and our Leah is one in a million,” her mother says, telling us that she is the only case of PH that they know of on our islands. “PH is progressive and if not adequately treated, will continue getting worse. It then starts affecting other vital organs and any damages done cannot be reversed.”

Mariella tells us that as yet, PH is incurable. “No cure has been found yet. Sometimes a transplant of the lung and/or heart is the last resort, but we all know that a transplant comes with its own baggage.”

Mariella maintains that Leah’s first years were quite the struggle for her and for them as parents, having been made up of many hospital visits and hospitalisations. “The friends she had were the doctors and nurses. When we were sent home, her living space was confined to the living room since she was attached to an oxygen cylinder 24 hours a day.”

Dealing with the diagnosis

“At first, we were shocked, and we weren’t prepared for such news. At birth she had already spent 10 weeks in NPICU,” Mariella says, remembering thinking the worst was over once they left. “But obviously, it wasn’t. I remember the first questions we asked were whether it could be cured, to which the professionals answered, ‘No’ and whether she could die. They said, ‘Yes.’ Of course, that was very devastating for us.”

Mariella says that she and her husband felt that their world was falling apart and their hopes and dreams for their baby girl were shattered. “Seeing your daughter going through something and you cannot do anything to help her is the biggest pain to endure as a parent,” she admits.

“We know our life is a rollercoaster. We live day by day, sometimes even minute by minute. We now cherish more the moments as a family. We celebrate life: monthly and yearly birthdays. We are grateful for what we have, and we do not take life for granted. We are thankful for every milestone and achievement our daughter accomplishes and we find happiness in the little things.”

Leah’s perseverance

Since she was around three, Leah has been connected to a pump that gives her medicine continuously, which helps her open her arteries. “Being connected to a pump sets limitations,” Mariella says, sharing that sometimes even something as simple as a bath is difficult for Leah. “We need to be careful that other children do not bump into her. We let her engage in many activities like any other child even though at the moment we are literally holding our breath.”

“When she grows up, she wants to be everything: a mummy, a hairdresser, a nail technician, a doctor, a nurse, and lately even a priest!” Mariella jokes. “She is strong and brave. She’s an inspiration to those who get to know her, and she has taught us about the true meaning of life.”

Her parents’ advice to anyone reading this

“Love your family members, be present in the family, take photos, live in the moment, be grateful and thankful for what you have. Stay home if you’re sick. People with low immunity deserve to live life too.”

“Don’t judge when you see a child in a pushchair, even if she looks like an older child. She is not a baby, she is not spoilt, she is not lazy. In our case, it is because of PH,” Mariella says. “To other families of children with special needs: seek and ask for support from families and friends. Go to therapy if need be and dedicate an hour a week for yourselves. Searching for groups of families going through the same thing is a big help, too.”