'Rare blood condition is giving my daughter sleepless nights'

It’s 10:46 am and 33-year-old Rachel Simiyu is in deep thought sitting next to her daughter’s bed at Bungoma Referral Hospital’s pediatric ward.

Every 3-4 weeks, Rachel camps at the hospital with her daughter, 11-year-old Michelle, who is battling with a rare but chronic blood disorder.

“I come from Kanduyi Constituency in Bungoma County. I gave birth to Michelle in the year 2020 July without any complications but one month later everything changed ‘black’. Michelle, who is my third-born child, started crying a lot. If she stopped crying, it would be just a one-minute pause and then her crying would accelerate,” Rachel narrates.

Rachel says she took her daughter to a nearby dispensary so that they could find out what was going on. Michelle’s signs seemed strange, so she was sent to one of the referral hospitals in Bungoma.

“The doctors looked at my daughter’s appearance and even the cry which was also existing and guessed something was amiss,” Rachel says.

A paediatric haematologist took Michelle’s blood and some tests were done -- a complete blood count showed that she had an abnormal level of blood in her body.

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“It was reading 2.1 g/dL which also medics said it was too low,” she adds up.

They were referred to a health facility in Nairobi where Michelle’s diagnosis showed that she had a rare blood disorder called Pure Red Cell Aplasia (PRCA).

According to Dr Dickens Lubanga, (MbCHB, M.Med Pediatric and Child Health), Pediatrician-Bungoma Children’s Clinic, PRCA is a rare blood disorder that happens when your bone marrow doesn’t produce the normal number of red blood cells and causes anaemia.

“There are many causes of PRCA, and may be categorised as people can inherit PRCA or develop it because they have certain medical conditions, autoimmune diseases, for example, systemic lupus erythematosus (SLE). It could also occur due to rheumatoid arthritis, inflammatory bowel disease, cancers for example leukaemia, thymus tumours, thyroid tumours, lung cancer, renal cell carcinoma, and lymph proliferative disorders like multiple myeloma. It could also come about due to viral infections like parvovirus B19 infection, HIV, Epstein-Barr virus and Hepatitis,” Dr Lubanga explains.

“Medications, including erythrocyte stimulating agents, are another possible cause and also pregnancy -- some people may develop PRCA during pregnancy and usually it goes away after delivery,” Dr Lubanga explains.

He adds that the incidence of PRCA in the USA is 1 to 1 million people, while it’s more predominant in the older age groups with a median age of 73 years.

“In Kenya the number is unknown as not very many studies have been done for this disease,” Dr Lubanga says.

The symptoms, he says, manifest due to the anaemia and include; fatigue, headaches, dizziness and difficulty in breathing.

Upon learning about her daughter’s diagnosis, Rachel says she was very worried.

“I didn’t have a clue what is PRCA was. Later, a paediatric haematologist told me more about the disease, I was even more discouraged. I wished the world could end and we just disappear with my daughter,” Rachel painfully recalls.

When she asked medics what was next after the diagnosis of this chronic blood disorder, Rachel says she learnt her daughter would be on frequent blood transfusions because what she lacked was blood in her body but for her to be well and live a normal life, she must go for a bone marrow transplant.

According to Dr Kibet Shikuku, a haemato-pathologist, PRCA patients have a reduction in the haemoglobin level and any further examination of the blood doesn’t show any abnormality.

Michelle has been on blood transfusions now and again. According to Dr Shikuku, continuous transfusions are associated with iron overload and it may require removal with drugs. Ultimately, the condition is best managed with bone marrow transplants.

“Anaemia becomes the only problem leading to survival based on transfusions,” he says. “Parents should take their children to the hospital to help the doctors diagnose and support the patients with medications and or blood components. Lately, bone marrow transplants are the ultimate mode of treatment. Bone marrow transplants have been used to manage PRCA with high success rates,” he explains.

Rachel was forced to accept her child’s condition and do what was necessary so that she could live with her daughter for years to come. She says that ignorance was and still is her biggest enemy.

Rare disease

When Rachel took her daughter back home, she narrated everything to her husband, family members and close friends.

“By then, Michelle was around 3 months old. At around five months, she started becoming restless. She was constantly tired and had difficulty breathing (dyspnea). As she grew older, she would complain of headaches and dizziness. What worried me the most and still worries me to date is when her skin turns paler than usual,” Rachel says.

These signs, which usually appear every 3-4 weeks, signal Rachel to take her daughter to the hospital for blood transfusions.

“When I see her body turning yellow and feel her heart beating hard, I know something must be amiss,” Rachel narrates. “ I got used to it and her too. She’s now old enough and can sometimes even tell me ‘Mom I’m feeling the same I always feel’ so it’s my responsibility to take her to the hospital,” she adds.

She said that she enrolled her daughter in school because she believed that every child should be educated.

“I soon realised that having chronic health problems cannot sail together with education, they are best enemies,” Rachel says. “My daughter has been spending more time in hospital than in school. Every 3-4 weeks she must be admitted so that she can go for blood transfusions,” she says adding that this makes Rachel very sad because she says that her daughter loves studying.

“She once told me that, in future, she wishes to be a doctor but look at her life now. Yes, she’s in Grade Five but spending more time in the hospital than in school,” Rachel says.

“When her friends are going to school and sometimes playing where she is, it stresses her up which makes it hard for me to relax and comfort her, ” she narrates.

At the hospital, when doctor’s check Michelle’s blood levels, the results are always the same.

“This demoralises her to date -- the fact that Michelle’s health is not improving even a little. She sometimes asks me why she was born that way, getting sick now and again. I try to comfort her and encourage her that she will be well soon,” Rachel says.

Rachel says she spends a lot of money to care for her daughter, and in the current economic shock in Kenya, she has accrued a lot of debt that she has been unable to settle.

“Having this rare but chronic blood disorder comes up with challenges that sometimes drive you to great depression. I didn’t expect friends and close relatives to run away after my daughter was diagnosed with this condition. I’m not getting support from them, some of my family members help but, mostly, I carry this luggage alone,” Rachel says.

She adds that there is a lot of misinformation and stigma surrounding the condition and other rare conditions.

“My family believes that the people where I’m married bewitched my daughter. Some friends also told me to visit traditional healers so they can get a solution for me because the cause of this disorder is witchcraft-related. Who told them that? I usually ignore and comfort myself that God will soon help my third-born child,” Rachel says.

Diagnosis of exclusion

“Generally, society has always associated unknown causes of many diseases with witchcraft. A lot of families can’t understand this condition. Clinically it’s a diagnosis of exclusion and a lot of families imagine that someone may have erred or made a mistake to warrant reduction of blood in the body,” Dr Shikuku observes.

Rachel is appealing to the government to spread awareness about this rare condition because only a few people know about it.

“Even me who’s nursing a patient, I’ve very little information. The government and other concerned stakeholders assume it’s rare and it has no big deal but what I can testify is that raising and caring for children with rare conditions like PRCA is traumatic and cumbersome,” Rachel says.

“The government should also ensure there’s enough blood in every county facility so that we don’t have difficulties in accessing them because, to date, for Michelle to get blood transfusions, we have to wait for a long time. Many health facilities tell us that there’s no blood in their banks and imagine that’s a public hospital, quite discouraging,” Rachel says.

She says that parents of children with rare conditions should not give up and should remember that ignorance is their best enemy.

“Just accept your child’s condition and show him/her the love he/she deserves,” Rachel says.

When Michelle was diagnosed with PRCA, Rachel says she was told that aside from frequent blood transfusions, the long-lasting option would be for her to go for a bone marrow transplant. However, it is an option that is way out of reach even for most Kenyans.

“It needs a lot of cash which I don’t have. However, I’m optimistic that my daughter will be well soon and be away from these tiresome blood transfusions,” Rachel says.

Little information

Dr Shikuku explains that while blood transfusions are free in government hospitals, bone marrow transplants might not be as easily accessible.

“Some patients have benefited from bone marrow transplants through NHIF,” Dr Shikuku explains. And while communication on rare diseases is crucial for scientists, medical doctors, and patient advocates to engage with the public so they can raise awareness about these conditions, little information is available.

According to the Rare Diseases Kenya website, the lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis and causes inequalities and difficulties in access to treatment and care. The result is heavy social and financial burdens on patients.

“Owing to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition, symptoms differ not only from disease to disease but also from patient to patient suffering from the same disease,” reads a statement on their website.

“PRCA is rare and not so many people have the disease in Kenya and worldwide. Most people do not understand it and have no idea that it even exists. There are no statistics to show the extent of the disease and studies need to be done to understand the magnitude of the disease,” Dr Lubanga concludes.