A medical miracle for Rachel

JONATHAN ANCER

Her phone rang.

“It’s Dr Wicht,” she mouthed. Dr Wicht was our daughter Rachel’s paediatrician. We had taken Rachel, who was then six years old, to see him because she had been pale and lethargic.

“She’s anaemic,” Dr Wicht told us at the first appointment. He took some blood to test.

Anaemia didn’t sound serious. I was sure we would be told to get her some iron supplements and perhaps we’d have to make weekly trips to Nando’s for iron-rich chicken livers. Maybe I’d even be able to claim Nando’s on medical aid.

So, when Dr Wicht called to give us the results of the blood test I only half listened.

“Yes,” Jean said.

“Ok,” she answered.

“When? Right now?”

And then Jean said the word that grabs you by the scruff of your neck and demands you pay attention, “oncology”.

Oncology? I asked when she ended the call.

Jean nodded.

We were being referred to G1 – the oncology and haematology unit at the Red Cross Children’s Hospital. But first, Rachel needed more blood tests, and they needed to be done at once.

We raced through the city to fetch Rachel from school and take her to the hospital. As we made our way through Cape Town, I remember thinking that it seemed like such a normal day, with normal people doing normal things, going about their normal lives, yet our lives were being turned upside down, inside out, and back to front.

Rachel was a typical little girl. She rescued shongololos (millipedes), gave them names, and made sanctuaries for them, and never went anywhere without Fuzzbot – her trusted teddy. She loved butterflies and fairy princesses, and one of her ambitions was to take part in a princess rap battle against Snow White. She was also a whizz on the monkey bars.

After innumerable tests, her team of doctors at the Red Cross led by Dr Marc Hendricks told us she had an extremely rare bone-marrow-failure disease. They didn’t know what it was, and said we shouldn’t be fixated on a diagnosis. One day, however, we saw the words “Pure Red Cell Aplasia” (PRCA) written on her file. The words seemed harmless, but later that day – at work – I typed them into Google. I wasn’t prepared for the results. I made the horrific discovery that the life expectancy for children with PRCA was 10 years. Rachel was six. I vomited.

The best brains in paediatric medicine in South Africa and all over the world puzzled over Rachel’s condition, but how and why she got this very rare disease was a mystery.

I went on another Google binge and discovered an obscure academic research paper that found that some cows in India who ate bracken fern had got pure red cell aplasia. We have some bracken fern in our garden so I put two and two together, and reported my findings to Hendricks, who promptly banned me from Google.

While we didn’t know what caused her condition, what we did know was that Rachel’s bone marrow wasn’t making red blood cells – the blood that carries oxygen to all the organs in the body. Her bone marrow had gone on strike. When her blood levels dipped to dangerously low levels, she became tired, stopped eating, and sleeping, and her heart beat dangerously fast. Her body shut down, and if she didn’t have a blood transfusion she was at risk of going into heart failure.

The Red Cross became our second home. Rachel had four bone-marrow biopsies and more than 50 blood transfusions. She was pricked, prodded, and poked. The intervals between transfusions became shorter and shorter. In December 2015, Hendricks told us that Rachel had become transfusion dependent, and needed a bone-marrow transplant. This would be like rebooting her bone marrow. The South African Bone Marrow Registry (SABMR) started to look for a donor.

The odds of finding a donor are one in 100 000 and in 2016, there were only 70 000 people on South Africa’s registry. There was one possible candidate, but after more testing, this person wasn’t a match. The SABMR searched the millions of people on international registries, but after a year’s search, there were no matches. We didn’t know it at the time, but her doctors were beginning to give up hope of finding a match. And then in January 2017, we were told that a 10/10 match for Rachel had been found.

For us, it was a miracle. It was also the first step in the next part of our journey – a scary and stressful one. On 4 March 2017 – a sunny Sunday morning – I drove Rachel to the transplant unit at Groote Schuur Hospital. Rachel was admitted to the isolation ward where she underwent an intense course of chemotherapy and was given immunosuppressants so her body didn’t reject the donor’s bone marrow. But with zero immunity, she was vulnerable to all kinds of infections, so had to be quarantined. When we visited her, we had to get dressed into hospital scrubs and de-germ ourselves.

On 13 March, the day before the transplant, Jean and I sat in the isolation ward and wrote a letter to Rachel’s donor. We told her how grateful we were that her DNA had given us hope. “There’s an unspoken bond that parents will do whatever it takes to look after our children. You have allowed us to keep our promise to Rachel,” we wrote.

Last Saturday (14 March) was Rachel’s third rebirthday. Since her life-saving transplant, she’s become a new child, and not only because she carries her donor’s DNA. Her transformation has been remarkable. From a translucently pale, listless little girl with blue lips and a heart that beat like a machine gun as it tried to pump oxygen around her tiny body, to a healthy 11-year-old whose eyes twinkle with mischief, who walks with a bounce, and who is full of beans and jokes.

At her doctor’s appointment in January, the wonderful Hendricks took one look at her cherry-red lips and rosy cheeks and said there was no need for a blood test. He could tell her blood levels were normal (I love that word). This was the first time since we took her to the Red Cross a bazillion doctor appointments ago that Rachel didn’t have a blood test.

After a wobbly start in which it took her new bone marrow about six months to get with the programme, she has reached her new normal. She’s at school, and has caught up about two years of work she missed. She participates in sports days and galas. She has besties, friends, and frenemies. This wouldn’t have been possible without so many people – like the calm and wise Dr Marc, Sister Brown, and the rest of the dedicated team at Red Cross’s G1 unit, Prof Novitzky, Dr Madurai and Super Sindi at the Groote Schuur Transplant Unit, Terry from the SABMR, Rare Diseases South Africa, the Sunflower Fund, Rachel’s teachers, our family and friends, and so many generous people we never knew who held us and lent us their good wishes and prayers.

Most of all, it wouldn’t have happened without Rachel’s donor – her genetic twin, her 10/10 DNA match – who lives 14 300km away in Poland. Last month Magdalena’s company held a bone-marrow donor drive for its employees and interviewed her about her experience. She had never thought about registering, but a friend wanted to sign up and so Magdalena decided to accompany her friend to the centre.

She wrote, “At the last moment, I thought that maybe it was me who was supposed to be there …” and she signed up. I’ve read that sentence a thousand times. It’s been three years, and I still don’t have the words to thank Magdalena for what she has done and explain to her what her selfless act has meant to us. We dedicate Rachel’s rebirthday to Magda and all the other donors.

I still don’t have the words to express how grateful I am to Magda for giving us our little girl back. But I will keep trying. The world is desperately seeking a medical miracle right now, and Rachel is proof that medical miracles do happen.