Cape Town siblings may have a new genetic variant that has not yet been recorded worldwide.

by | Mar 23, 2022 | Campaign, Impact | 0 comments

Aaron Lipschitz (7) from Sea Point, Cape Town, is the first child in South Africa to be diagnosed with Interleukin-12 Receptor Defect, a rare, genetic condition that affects the immune system.

In simple terms, the cells in Aaron’s immune system do not communicate effectively and as a result he is unable to fight infections.

Of the few known cases worldwide, Aaron is the only child who is unable to tolerate any food without becoming very ill. Before his bone marrow transplant in August 2018, the only nutrition he has been able to cope with was a hypoallergenic formula called Neocate LCP. He is still primarily fed via a MIC-KEY feeding port in his stomach.

Undergoing a Bone marrow transplant

As there is currently no cure for Aaron’s condition, the only way for him to overcome his recurrent infections and survive this condition, was to have a bone marrow transplant. 

To help cover the costs of finding an international bone marrow donor, as well as assist his family with his ongoing medical expenses, a campaign was created on crowdfunding platform, BackaBuddy.

Finally in August 2018, Aaron’s family got the call they had been waiting for.

With the support of The South African Bone Marrow Registry, a 100% bone marrow match was found for Aaron overseas. At only 3 years old, Aaron underwent chemotherapy to destroy his current defective immune system before it was replaced with the donor’s bone marrow.

The risky procedure was met with complications when Aaron developed a very rare reaction to the new bone marrow, called a Cytokine Storm, which landed him in Red Cross ICU for a month. The fact that he was able to survive the transplant is a miracle, says Aaron’s mom, Taryn.

“Aaron is a fighter in the true sense of the word. His doctors were trying to prepare us for the worst and I told them to wait and see…Aaron survived against all odds.He has the most incredible zest for life and thirst for knowledge.” – says Taryn.

Since the bone marrow transplant, Aaron seems to be getting fewer infections but unfortunately his immune system has not reconstituted as well or as quickly as doctors would have liked.

To boost his immune system, he needs to have weekly immunoglobulin treatment. Aaron has slowly started to be able to tolerate small amounts of oral food since his bone marrow transplant.

“Despite surviving such a tough procedure, Aaron still has a very long and challenging journey ahead. Whenever we feel that we are getting close to the summit of this mountain,the mountain seems to become higher. All we can do is keep our heads down and keep putting one foot in front of the other.” – says Taryn.

Currently, Aaron’s condition is more stable, but he still has extensive medical needs:

  • Aaron currently survives on formula administered 3-4 times a day via a MIC-KEY feeding tube in his stomach.

  • He still requires weekly immunoglobulin infusions where a tiny needle is inserted under the skin in his stomach to administer the infusion.

  • Aaron is in occupational therapy, physiotherapy and play therapy to help support him and allow him to lead the most normal life possible.

 

Aaron’s little sister, Eden

Like most parents, Taryn and Steven had always dreamt of having a second child, giving Aaron an opportunity to be a big brother.

After extensive genetic testing concluded that Aaron’s condition was most likely a random phenomenon that didn’t have a genetic cause, the Lipschitz family were very confident, albeit not 100% certain, that they would have a healthy baby.

“Of course we naturally had concerns that a second child would have a similar condition to Aaron although his exact diagnosis is still unknown. We know that he has a Primary Immunodeficiency but the subtype or variant seems not to have been documented yet worldwide.” – says Taryn

Welcoming their beautiful daughter, Eden into the world on the 27th September 2021 the family never in their ‘darkest nightmares’ imagined that she would be even sicker than Aaron ever was as a baby.

“Within a couple of weeks it became clear that Eden had significant difficulty tolerating feeds and displayed extreme pain and severe vomiting after feeding. Aaron had always tolerated a very hypoallergenic formula called Neocate LCP since birth but Eden is not even able to tolerate that. As a last resort we have had to resort to TPN (total parenteral nutrition) which is intravenous feeding to keep her alive.” – says Taryn

Currently, it is unclear if Eden has the same condition as Aaron, as extensive exome sequencing has not determined the cause of Eden’s difficulties. Doctors believe that Aaron and Eden may have a new genetic variant that has not yet been recorded worldwide. 

A family facing financial pressure

The financial pressure the Lipschitz family is experiencing, now managing two children with extreme medical needs, has been tremendously difficult for the family, which is on the top medical aid plan, which is expensive in itself.

Taryn, who works as a play therapist, has also not been able to return to work full-time, as Eden’s current hospital admission has been 10 weeks long.

Once-off and recurring donations to the Lipschitz family fund on BackaBuddy, have carried the family through emotionally, physically and financially, says Taryn.

“We are so blessed and grateful to be part of this community and know that help and support is available. We look at how far Aaron has come and we are filled will hope that with the community behind us Eden can also overcome the enormous challenges that lie ahead of her.”

Encouraging new bone marrow donors

The Lipschitz family would like to encourage all South Africans, to register as bone marrow donors to give children like Aaron and a second chance at life.

To date, the SABMR has helped save the lives of nearly 550 patients with life-threatening blood disorders by matching them with healthy, unrelated bone marrow donors from South Africa and the rest of the world.

According to SABMR, Sustainability Portfolio Manager, Kamiel Singh, there are currently only 74 000 donors registered on the site to cater to over 57 million South Africans.

“We are urging people to go onto the SABMR website to register as a bone marrow/stem cell donor. The process is as simple as making a phone call, filling out a form and having  a mouth swab taken. You could save Aaron or another person waiting for their miracle.” – says Taryn

Register to become a bone marrow donor

Create a crowdfunding campaign

South Africa’s leading crowdfunding platform, BackaBuddy has supported more than 44000+ individuals and charities in setting up fundraising campaigns for medical fees, tuition and various causes in South Africa. The platform has thus far raised over R500 Million.