Lilian and Luke’s life reads like two birds in flight. It looks easy and natural, but they have learnt their life-lessons from about a decade and a half ago. This is the story of their inspiring daughter.
Their daughter’s fingers began swelling when she was only five months old. A visit to the paediatrician assured the parents that all was well. But this did not calm them down, The little one’s pale skin, a grimaced face and unending cries were a contant reminder that all was not well.
They were determined to get a conclusive diagnosis for their second-born child. A second diagnosis confirmed their fears. A Sickle Cell Disease pronouncement was given. “Now we knew what to expect,” says Lilian.
But she was only 6 months old.
She was 6 months when she was diagnosed with Sickle Cell Disease.
The journey had begun. They took each day at a time to understand this life-long inherited condition. The road became bumpier. “When she turned two years, she got a stroke and had to undergo chronic blood therapy which meant she had to get frequent blood transfusions to boost her haemoglobin levels,” Lilian pointed out.
A decade later story is not all gloomy. But what is it like to be a child who lives with a chronic illness?
Today, the girl is petite no more. As a teenager, she has learnt to deal with Sickle Cell Disease and explain to peers and adults alike that she has an inherited condition. “I will beat Sickle Cell Disease,” she says. She knows there is no cure and understands that she has a blood disorder with abnormally shaped end of the red blood cells, Lilian adds.Her daughter’s words echo in her mind every time the she is on the verge of giving up.
Lilian Mbori ia a Sickle Cell Disease champion and caregiver.
“She has sessions with her paediatrician to understand SCD and we also have frequent candid discussions. We have also introduced her to a young lady who has sickle cell, so they can encourage each other, ‘Lilian describes the psycho-social support for her daughter.
What is Sickle Cell Disease?
When the first descriptions of this disease were made in Western medicine in 1910, the only fitting words were that the shape of the red blood cells looked ‘strange’.
Note the round shaped red blood cells and the sickle-shaped ones.
Red blood cells are normally round-shaped, and their function is to carry oxygen to all parts of the body. However in persons with this inherited condition, they assume a C-shape similar to a farm tool called a “sickle”. Both parents must carry the sickle cell gene for a child to be born with Sickle Cell Disease.
Haematologist Dr Kibet Shikuku defines Sickle Cell Disease as an inherited condition where the red blood cells become rigid and sticky forming shapes that look like sickles or crescent moons. Dr Kibet adds that when the red blood cells assume this irregular shape, they get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body. This can also cause damage to the brain, spleen, eyes, lungs, liver, and multiple other organs and organ systems.
On the lifespan, Dr Kibet further noted that whereas the normal red blood cells have a life span of about 120 days, but for those born with sickle cell disease, these crucial blood cells do not live longer than 20 days.
The signs and symptoms include;
- Pain episodes
- Painful swellings of hands and feet
- Frequent infections
- Delayed growth
- Vision problems
However some of the complications associated with the disease include stroke, blindness, kidney and spleen damage, high blood pressure in the lungs (pulmonary hypertension), organ damage, ulcers or gallstones. In most cases, frequent blood transfusions are given to increase tissue delivery of oxygen. Hospital admissions related to sickle cell disease are due to acute pain known as crises. The pain episodes are caused by an inadequate blood supply to body tissues hence the individual may complain of pain in the hands, back, chest and feet and the pain usually moves from one body part to another.
Did you know that a person with Sickle Cell Disease has some protective advantage against malaria? This is because he body sends sickled red blood cells to the spleen for elimination, consequently destroying the malaria parasite. Another reason for this malaria resistance is that since the cell membrane of the sickled red blood cell is stretched by its unusual shape, it becomes porous so it “leaks” nutrients, like potassium, that the parasite needs to survive, so the malaria parasite dies.
The family tree
According to Lilian looking back at the family tree to check for SCD cases, doesn’t matter anymore because they are grateful to have a daughter who encourages them every day that sustainable treatment for the condition is nigh. “We are carriers of the Sickle Cell gene but that isn’t something that we dont’t dwell on,” Lilian says, a mother of four.
Her daughters constan assurance keeps her grounded that an affordable cure is coming. And the exploits of the 13 year old girl have gone beyond the limits that the disease have placed her way. She is a member of the world scholars at her school and a budding author. “She is currently writing a fairy tale book for children. And she is an interior design who lets her ideas come into fruition whenever she is in any space,” Lilian describes her daughter’s talent.
The cost of treatment is prohibitive
Lilian is calling for the guidelines and treatment protocols for SCD to be adopted to manage the condition better.She admits that the greatest challenge is the prohibitive cost of healthcare.
“Her medical care is expensive, recently our insurance renewal was rejected for obvious reasons yet she is on a daily drug and diet regimen and every hospital admission costs us about Sh 500,000,” she says. And as medical research in another part of the world recently announced a new drug to manage SCD more effectively, the cost remains prohibitive and the hopes to get the drug to their daughter remains a mirage.
She has also taken an extra step in ensuring that that her daughter’s teachers are aware of the condition, every year she transits to a new class. I explain to the teachers that due to the frequent water intake, she should be allowed to use the washrooms more frequently than her peers. The water enables her red blood cells to move faster hence prevent pain crises” said Lilian. Whereas her daughter has been restricted to swimming to prevent her from exposure to the cold, Lilian appreciates that she can hold an honest discussion with her to understand how to deal with Sickle Cell Disease.
What has worked?
A multi-disciplinary team is recommended to effectively manage Sickle Cell Disease
According to Lilian, other treatment and management strategiess include having ample rest, antibiotics, observing a healthy diet and lifestyle, taking folic acid and increasing her fluid intake. Lilian accepts that when she takes her daughter to hospital, it takes a multidisciplinary team of nurses, paediatrician, haematologist, the pharmacist, and others to manage her whenever she has a pain crises or any other arising complication.
What are her fears as her daughter gets into the youthful years?
“The pain crisis have become frequent as she grows. Sometimes they are so intense that she has to be on a morphine drip. The pain is so excruciating that it breaks my heart whenever she cries for days. Her blood pressure also goes beyond normal limits,” Lilian says.
Pre-natal screening can check for the Sickle Cell trait
The World Health Organisation notes that in countries such as Cameroon, Republic of Congo, Gabon, Ghana and Nigeria the prevalence is between 20% to 30% while in some parts of Uganda it is as high as 45%.Closer home, Sickle Cell Disease is more common in Western, Nyanza and the Coast regions in Kenya.
Prenatal screening for Sickle Cell disease can be done to check for the trait that causes Sickle Cell Disease with Republic of Congo being one of the pioneer countries in Africa to have a universal newborn screening program. Prenatal screening tests are a set of procedures that are performed during pregnancy on expectant mothers to determine whether a baby is likely to have specific birth defects. The most promising form of treatment is bone marrow transplant which isn’t available in Kenya. Lilian is hopeful that the days ahead are promising.
“Our life with sickle cell is complicated because we have to make our family plans around her. We are sensitive to places we visit hence we have to ensure that there is proper healthcare in place. The paediatrician and the hospital becomes part of our family, “she said. And in this cloud, Lilian has found a silver lining.
“We thank God for blessing us with this strong girl,” she concluded.