Aaron Lipschitz: The boy who can’t eat
When he was two-and-a-half years old, Aaron Lipschitz was diagnosed with an incredibly rare genetic mutation. One year later he has a chance at a new life.
Like so many three-year-olds, Aaron Lipschitz loves the cartoon show Peppa Pig. One day, while watching an episode where Peppa enjoys a picnic in the countryside, feeding ducks and gorging herself on sandwiches and homemade strawberry cake, Aaron’s eyes filled with tears.
“Mommy,” he asked, “when I am big, will I also be able to eat?”
Although it broke her heart, the question did not take Aaron’s mom, Taryn, by surprise.
As he grows up, Aaron is becoming increasingly aware that his life is not like that of his friends and classmates – because unlike any other three-year-old in the world, Aaron has never eaten a meal in his life. When he was born, Taryn and her husband Steven thought their baby was simply hyperallergic. He couldn’t keep any breast milk down and had constant, violent diarrhoea. But many babies have allergies, colic and bad reflux.
“I thought when we figured out what those allergies were, we’d be fine,” says Taryn. Aaron even had an allergic reaction to Neocate, a hypoallergenic formula, but introducing Creon – a chemical supplement that aids food digestion – helped. (Creon is also known to help children with cystic fibrosis, a serious childhood illness. Fortunately, the test came back negative.) But in the months to come the family would discover that Aaron’s inability to digest food was just the tip of a more formidable iceberg.
Aaron suffered from infections from birth and was admitted to hospital five times in his first four months. Then, when he was a year old, Aaron developed a serious salmonella infection that nearly ended his life. Ultimately it also led to a major breakthrough. Aaron’s was not the common salmonella infection that causes food poisoning but a more serious variant called salmonella paratyphi C.
At this point, the family’s growing team of medical experts, led by Mediclinic Cape Town paediatrician Dr Deon Smith, reached out to Professor Monika Esser, a prominent immunologist at Stellenbosch University. Professor Esser and her team performed whole exome sequencing (WGS), a technique reserved for rare immunodeficiencies – and found a needle in a haystack. Aaron suffers from a mutation of his interleukin-12 receptors, which means his immune system doesn’t communicate properly with itself.
“Our immune system has to be very finely orchestrated for cells to acknowledge and respond to an invasion of microbes,” Dr Smith explains. “Interleukin 12 is one of the many interleukins that help coordinate the function of our immune systems. In Aaron’s case, we discovered a receptor defect – he has enough interleukin 12 but there are no receptors to acknowledge its presence.”
Recurrent salmonella C infections are often an indicator of IL-12 receptor mutations, but the diagnosis itself was something of a medical miracle. Before the successful diagnosis, Dr Smith sought help from a team of experts in Paris who were investigating immune gut issues in infants, but could not find the mutation.
“Aaron’s variant (mutation) is entirely novel but in the same region of the gene as that of an already reported disease-causing variant,” says Professor Esser.
In other words, Aaron’s genetic mutation is a completely unique variation of an already extremely rare condition. Of a handful of children in the world, Aaron is one of a kind.
It has never been clear whether or not Aaron’s feeding issues and the infections are related. (While it is tempting to believe the interleukin is confusing food for microbes, the medical jury is still out on this.) But one can imagine his parents’ anguish as they tried instinctively but futilely to give their son’s body enough nourishment to cope with the ravages of a malfunctioning immune system.
“The IL-12 diagnosis doesn’t explain everything in Aaron’s case but it explains a lot of what he has been going through,” says Dr Smith. “The diagnosis gave us an immense sense of relief because at least we could pinpoint the problem, and start to manage it.”
After his first Salmonella infection, Dr Smith put Aaron on Polygam – an intravenous immunoglobin – which helped so much he experienced the best six months of his life.
Taryn took this opportunity to introduce solids to her toddler. And when Aaron could not tolerate the simplest boiled carrots or sweet potatoes, Taryn tried to feed him the water the carrots had been boiled in so that he might ingest some of the nutrients from the broth. But Aaron’s body rejected this more violently than ever. What’s worse, the food trials were aggravating the Salmonella infections and Aaron had to stop the Polygam after developing an allergic reaction to it.
In October 2017, when it became clear he could not subsist on the Neocate alone, Aaron was fitted with a total parenteral nutrition (TPN) port. This is an intravenous line that pumps food directly into his bloodstream, through his heart. It’s a system used primarily for comatose patients or people with severe digestive problems, like Crohn’s disease. In effect, it allows Aaron’s body to obtain essential nutrients while bypassing his digestive system altogether.
The TPN port means that part of Aaron’s rigorous daily treatment schedule involves attaching the feeding tube to him every night in a completely sterile environment at home. So every night and every morning Taryn and Steven turn a room in their home into a sterile space, complete with surgeon’s gowns, sterile gloves and masks.
“Most people we meet freak out because he can’t eat, but for us, the infection side has always been scarier,” says Taryn. “You can survive without eating food – as we have seen – but the infections are the problem. They are …” She trails off.
If adversity breeds character, Aaron Lipschitz must be one of the most courageous little boys in the world.
He bears his daily medications, weekly treatments and monthly hospitalisations with not just stoicism but magnanimity. He greets the Mediclinic Cape Town nurses and staff by name and reminds his mother when it is time for his painful immunoglobulin injections. He is also learning French so he can communicate with his French Canadian cousin.
“He has always been a happy child,” says Taryn. “He never complains. He never cried. We now realised he was in so much pain and discomfort from birth, that for him, it wasn’t unusual.”
Aaron’s best chance at leading a more normal life is a stem cell transplant, which involves eradicating his current immune system with chemotherapy and replacing it with a new one harvested from a donor.
This is a daunting, risky and costly process. After scouring the international bone marrow registry for a close match*, Aaron will need to stay in a highly sterile, isolated ward for up to eight weeks while his immune system is essentially wiped clean and built up again using the donor’s stem cells. There is a 5-8% mortality rate for the procedure, but it is a risk that must be taken.
“It’s difficult to take this next step, but we have to,” explains Dr Smith. “Maybe once his immune system is better we can challenge him with other foods and see how he responds.”
Aaron Lipschitz’s story boggles the mind and steals the heart of every person who hears it. This is just the first chapter. Here’s to a happy ending.
REGISTER TO SAVE A LIFE
South Africa’s stem cell registry is tragically lacking in available donors. By registering as a stem cell donor you would be helping thousands of South Africans that are diagnosed with serious and rare diseases.
No one knows this better than Aaron’s mom, Taryn. “It’s as simple as doing a mouth-swab,” says Taryn. “You can save someone’s life in five minutes.”
South African Bone Marrow Registry
Email firstname.lastname@example.org or go to sabmr.co.za
THE SUNFLOWER FUND
Call 0800 12 10 82 or go to sunflowerfund.org.za
*As we were going to print, news came through that Aaron has found a bone marrow donor match. For updates on his story, keep an eye on www.backabuddy.co.za/save-aaron.