Raising children with rare disease

Every year, the last day of February is set to commemorate Rare Disease Day in the World. The day is meant to raise awareness among the public about rare diseases and their impacts on the patients’ lives and call on policy-makers, politicians, researchers, health professionals and other stakeholders to join efforts together and come up with national plans and policies to address rare diseases.

This year, Tanzania held its first-ever campaign to create awareness about the rare disease on the 29th of February. The stakeholders that included the parents of children with a rare disease along with medical practitioners came forward to talk about the disease and improve access to treatment and medical representation for individuals with a rare disease and their families. 

Paediatrician Kareem Manji at the Muhimbili National Hospital (MNH) says, “There are nearly 7000 different rare diseases that have been identified globally to-date and Tanzania is not an exception. However, most of the people in Tanzania are not aware of these diseases. In Tanzania there is no proper statistics of the recorded cases of rare disease.”

A rare disease affects a small percentage of the population. Most rare diseases are genetic, and thus are present throughout the person’s entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30 per cent of children with rare diseases will die before reaching their fifth birthday.

Dr Mariam Noorani, Paediatrician at the Agakhan Hospital says that, a rare disease is inherited; at times parents don’t have symptoms of a rare disease but can carry an abnormality gene, which cause it. The examples of the rare diseases are acrocephalosyndactylia, alagille syndrome, bardet biedl syndrome etc.

Sound Living brings you the experience of a family raising two children with rare disease and the hard choices they had to pave in the pursuit of rare disease diagnosis and cure.

Sharifa Mbarak and Mohammed Kimara were blessed with their first child after their two years of marriage, a son, on 9th April 2011. They named him Ali. Despite complications during and after preganancy, Sharifa thought it was normal as the doctors had successfully managed to stabilise the situations. Sharifa says, “On my ninth month of first pregnancy, I could not hear the movements of my child. The ultrasound stated that the baby was tired and big. After birth, the problem persisted. Ali’s blood sugar was imbalanced, but the doctors managed to stabilise it.” A month later, Ali was diagnosed with severe pneumonia and little did Sharifa know that this was just the beginning. Ali was admitted for a week. 

After a year and a half, the couple was blessed with their second child, a girl. Sharifa says that the pregnancy was yet again a complicated one. Nasreen, whom they named her, was born premature – the doctors had to try their level best to save both the mother and her daughter. 

Just after a few blissful weeks, the new parents began to worry. Sharifa recalls the mid-night of 7th August 2013. “Ali began to cough severely, he had high fever and could not stop crying the whole night,” says Sharifa. When the Kimaras raised their concerns with hospitals in Zanzibar, they couldn’t diagnose and figure out the root cause of the problem. Not until when Ali was flown to Dar es Salaam for detailed check-ups and treatments. 

The condition worsened upon arrival in Dar es Salaam. Ali’s high fever persisted, he was unconscious and turned blue as his oxygen level dropped. He was on support and kept in the ICU for six days. There was no hope of improvement. Ali’s left lung was about to collapse, the hospital took an immediate decision to transfer him to their sister hospital which is Agakhan Hospital in Nairobi. “Ali was flown to Nairobi and my two year old baby was kept on a life support. I was fighting a battle of life with him. With all this, I had left my four-month old premature Nasreen behind,” Sharifa says. 

Both of Ali’s lungs collapsed in Nairobi and two days later he went into a semi-coma, but the two-year old Ali never stopped fighting for life. The doctors were unsure of what is happening. After a lung biopsy and a lumbar puncture procedure, the results were sent to India, South Africa, Germany and United States of America. All the results revealed Ali had a ‘rare’ disease. 

With a total of 8 ICU admissions and life support, a trachestomy (an opening created at the front of the neck so a tube can be inserted into the windpipe to help you breathe) was removed last month and he now sleeps without BiPAP machine. He is an isolated child but he never stops dreaming to live a normal life and pursue his goals. Nasreen, his sister is now diagnosed with the same disease. Nasreen has had 4 ICU admissions and a lot of complications. She has been recommended to use a BiPAP machine. 

She says this is how her children live. They are happy at home, they have to be isolated, they shouldnt go out to any public place, they should always try to be away from sick people, flu is a silent killer for them as minor flu takes them to ICU. 

“It has not been an easy journey for us, as both of them are in this condition, and the very difficult time we used to get was when one child is at home and one is at the hospital. Our lives have changed completely. We had to stop everything, and concentrate on our children’s health and wellbeing. I can only understand other parents who are having hard days in raising a rare-disease child under the age of five,” Sharifa empathises. 

The Kimaras moved from Zanzibar and currently reside in Dar es Salaam due to the need to access hospitals all the time. They would not want to stop here. The parents’ own experience has triggered them to resolve to mobilise parents, patients with rare diseases and other like-minded citizens so as to create the necessary awareness and call the community to action. 

Sharifa and her husband are in the process of opening a foundation, Ali Kimara Rare Disease Foundation, that will be able assist the families who are going through the same experience. “Through the tough and challenging experience to raise children with rare disease, I have come up with an idea to start the foundation with a mission to be the voice of unknown number of people living with a rare disease in Tanzania, supporting patients to make their voice stronger through various initiatives and activities,” says Sharifa.

Commenting on the challenges facing patients with rare diseases she says that, health care and social support services are designed for patients with common diseases and not patients with special needs. Lack of a diagnosis can result in patients and families being denied necessary services in hospitals, schools and the community.

Adding to this she says, patients with rare and undiagnosed disorders require coordination of multiple specialists. Limited research into rare disorders provides limited hope. If the National Hospitals could start this program of screening babies after birth at least it would help for early diagnosis. she believes this is the key point in the lifecycle at which the possible presence of a rare disease maybe indicated.