Baby Leo battles rare disorder

An eight-month-old baby boy who was diagnosed with a rare genetic disorder is in urgent need of a bone marrow transplant to save his life. 

Leo Parker from Claremont has been diagnosed with pancytopenia, a rare disorder that prevents his bone marrow from producing blood cells and his only chance at survival is finding a matching stem cell donor.

Baby Leo has had a rough start to his life. He has seen 23 medical specialists; has had multiple X-rays, ultrasounds, biopsies, procedures under anesthetic, 14 blood transfusions, blood tests and painful needle pricks. He is reliant on regular blood transfusions to prevent him from having a life-threatening bleed and is at constant risk of severe infection.

Leo was born prematurely and spent 18 days in the neonatal intensive care unit (NICU), where they discovered he had low blood platelets.

His mother, Tarryn Parker said nothing could have prepared them for this. 

“Leo was born with a congenital heart condition and bilateral sensorineural hearing loss, so every day is a battle. Watching our little boy go through so much has been devastating.” 

She said while they try to make every day enjoyable for Leo, it was hard as they have to be very careful and not have him exposed to germs due to his weakened immune system.

“We try and make each day as enjoyable and simple as possible for Leo, however, there are days when he needs to see a specialist, whether it be to assess his heart (right-sided aortic arch), his hearing (bilateral sensorineural hearing loss), or his bloods (pancytopenia). He also has a platelet transfusion every eight to 10 days. Since his immune system is becoming weaker and weaker due to his bone marrow being in complete failure, we need to be mindful of his interaction with other people, especially little children,” she said. 

His father, Andrew Parker said they were thankful that up until now their medical aid had covered the vast majority of Leo's medical bills but the medical expenses were expected to increase once they get to the transplant stage. 

“Some of the medical expenses that we need to take into consideration are doctors' consultations for his various conditions, blood tests prior to the actual transfusion, in-hospital platelet and blood transfusions, antibiotics and other medication, surgeries under anesthetic - bone marrow biopsy, insertion of Hickman Line. Then there will be a cost involved if/when we find a donor and the actual bone marrow transplant can take place. We have been informed that the cost of this could range between R1million to R1.5million,” he said. 

Mr Parker said their income had also taken a significant dip due to the amount of time they had been spending away from their jobs to take care of Leo. 

Ms Parker said they were fortunate to have the love and support of many family and friends, especially Leo's grandmothers who both live in Cape Town and help them a great deal with caring for Leo. 

“That being said, life has been extremely challenging as unfortunately, we don't know what the future holds. I'm sure most people would agree that life is hectic enough already and we are very much aware of the toll this is having on our own physical and emotional wellbeing. We are taking things step-by-step and day-by-day and we will never give up on Leo. We strongly believe that we will find the match that will cure Leo,” she said.

The next step is finding a matching donor so the stem cell transplant can take place as soon as possible, Mr Parker said. There are currently no suitably matched donors on any national or international registries. The family is now placing their hope in the kindness of a perfect matching stranger and calling on anyone between the ages of 17 and 55 to register as a bone marrow donor with DKMS. 

“Leo will continue to undergo regular transfusions until such time, however, we are calling on as many people to join the bone marrow registry as possible, and if you aren't able to due to medical or age restrictions, please share Leo's story far and wide in the hope that somebody may see it and sign up,” he said. 

DKMS is an international non-profit organisation dedicated to the fight against blood cancer and blood disorders. They offer a free service, delivering and collecting a DNA swab kit at your address. It's simple and painless; matched donor stem cells are collected by removing, filtering and returning your blood.

DKMS team lead Jade Worrall said in Leo’s case they required a 10/10 HLA match. 

“We use HLA typing to look at specific HLA markers. HLA is inherited and this means that you are most likely to match a sibling or an unrelated donor from a similar ethnic background. A perfect match is required to improve the chance of a successful transplant and ensure engraftment (where the cells grow and make new healthy cells in the body) as well as reduces the risk of complications like GVHD (graft versus host disease) where the donor’s immune cells attack the recipient’s cells,” she said. 

Ms Worrall said if a donor was identified as a match for a specific patient they would arrange a blood draw to test for infectious diseases and to perform HLA typing again to confirm that the donor is indeed a match for the patient. The donor will then attend a physical exam which includes a blood draw, chest X-Ray, abdominal sonar, ECG and consult with a Collection Centre physician. If the donor is deemed fit to donate, they will start G-CSF injections for five days.

DKMS Africa covers all the costs the donor may incur and donating was completely free and voluntary, Ms Worrall said. 

“Once a matching donor is found and cleared to donate, the patient begins a preparative regimen involving high-dose chemotherapy and sometimes radiation. This is to prepare the body for the incoming healthy donor cells. Patients are severely immunocompromised during this period and therefore highly susceptible to infections. For this reason, a patient will be in isolation,” she said. 

Visit dkms-africa.org/help-save-leo to register and help save Leo’s life.