At six weeks old, Olive became critically ill. She stopped feeding and became very weak. A visit to the paediatrician led to the discovery that she had a haemoglobin count of 3 (whereas the normal level for this age is about 14), no reticulocytes (immature red blood cells) and a low white cell count – technically this is called “aplastic anaemia”. Olive was admitted to the neonatal ICU in heart failure, where she waited for blood for an emergency transfusion.
With the local blood bank not having any matching paediatric units of blood available at the time, Olive (only 3kg at that time) became more lethargic and less responsive. An adult unit was eventually sourced, processed, irradiated and crossmatched and eight hours later the 30ml of life saving blood arrived for her transfusion. There was a massive sense of relief but it was accompanied with anxieties about all the possible complications associated with blood transfusions.
Olive responded well to her initial transfusion, but the challenge of finding a diagnosis had begun. Over the months that followed all likely transient cases and viral infections were ruled out and it became apparent that Olive must have a very rare disease.
FINDING A DIAGNOSIS
After extensive research and unsuccessful attempts of securing a diagnosis, it was essential to perform a bone marrow biopsy, a high-risk procedure on such a small baby. The results of the biopsy showed not one single red cell precursor in her bone marrow which suggested that Olive had the very rare Diamond-Blackfan Anaemia (DBA). To find out more, Olive’s blood was couriered to Oxford University for genetic testing and three months later they received the results. The testing found a deletion of the gene RPL35a – a mutation confirming the diagnosis of DBA. This was a bitter sweet moment in receiving a diagnosis, but also knowing that it was a disease that would never go away.
What this means is that Olive is “transfusion dependent”, requiring a blood transfusion every three to four weeks. The excess iron that accumulates from regular blood transfusions can lead to liver cirrhosis and heart failure, so she takes a daily dose of expensive medication, along with ongoing monitoring of her iron levels, to try and prevent this from happening.
In connection to Olive’s gene deletion (but not classic to all patients with DBA), she is persistently neutropaenic (she has a low white cell count) placing her at very high risk for any infection. She therefore receives regular injections, usually used on patients undergoing chemotherapy, to stimulate production of white cells and her family have strict infection control measures at home.
Receiving multiple blood transfusions also means that Olive could develop antibodies and have an “allergic” reaction to donor blood, which could compromise the success of a future stem cell transplant. To minimize this risk, her parents have set up a designated pool of six people who have courageously committed themselves to donate blood specifically for Olive every eight to twelve weeks. These donors are her “Guardian Angels” and without them Olive wouldn’t be alive.
THE NEW NORMAL
It is safe to say that Olive and her family have had to adapt to a new “normal” way of life. In spite of all of her challenges Olive has made remarkable progress. Olive is such a brave and happy little girl and our hope is that her story and journey inspires you and helps other families and children with rare diseases.
“Save a life, it’s in your blood”
Established in 2017, the Olive Children’s Foundation aims to bring relief to families of children with a rare and life threatening conditions such as Diamond Blackfan Anaemia (DBA). The foundation has 3 main goals:
- INFUSION CLINIC – to create an out-patient infusion clinic for children requiring blood or other transfusion products.
- HELPING FAMILIES – establishing a registry across Africa to enable relief of the diagnosis and treatment costs for the families of affected children.
- RESEARCH – creating a space for doctors to learn and understand rare conditions.
FROM OLIVE’S GODMOTHER:
“And I’d choose you; in a hundred lifetimes, in a hundred worlds, in any version of reality, I’d find you and I’d choose you.”
– The Chaos of Stars