In a truly heart-wrenching story of resilience and desperate hope, a family is battling to save their two young children diagnosed with one of the planet’s rarest immune disorders. Siblings Sadie Krause, aged 21 months, and her six-year-old brother, Jesse, from Benoni, are facing a critical prognosis after being identified with DOCK8 Immunodeficiency Syndrome.

With fewer than 300 confirmed cases globally, the siblings’ plight underscores a pressing and immediate need for public support. Their only chance at a cure lies in a staggering R20 million – R30 million (per child) treatment available exclusively overseas.

Full article: Urgent appeal: siblings seek R20 million for life-saving treatment

The past 2 weeks have been a tough one for the little ones. Both Sadie and Jesse started showing signs of flu, and for children living with DOCK8 immunodeficiency even a simple viral infection can escalate quickly.

Sadie took the hardest knock. She developed a fever and chest complications, and was admitted to hospital for one night. We have been fortunate enough to find a paediatric facility in a hospital in Johannesburg which is much safer for immunocompromised children. There are no shared wards, reduced exposure to other viruses and bacteria, and the right level of monitoring.

The medical team performed blood tests and a nasal swab. The results confirmed a viral infection, not bacterial. This meant Sadie didn’t require IV antibiotics (intravenous), which is a huge relief. She did, however, need to start an oral antibiotic course to support her through the fevers and help prevent complications.

Sadie is now back home and stable. Jesse has a lingering cough, but he is strong and recovering well.

Both children are also navigating severe molluscum contagiosum, a stubborn skin condition very common in DOCK8:

Sadie has lesions on her eyelids and behind her ears.

Jesse’s molluscum has now spread across the front of his body, adding discomfort on top of this week’s flu.

Last week, Jesse also developed painful cyst-like lesions, which thankfully began improving after a dose of Dupixent, a treatment that can sometimes help reduce skin inflammation in DOCK8 patients.

On the treatment-planning side, we have made meaningful progress. Two international transplant centres have confirmed they are willing and able to treat the children and have been highly responsive and compassionate. We are now working closely with their clinical teams, alongside our local transplant specialists, to map out the safest and best path forward for each child. We hope to have a clearer direction next week and will share updates as soon as we can.

Thank you to everyone who continues to walk this road with us. Your messages, prayers, support, and love mean more than you know. We’ve put up a photo of the kids on a happier day. Their resilience and natural joy for life is beautiful.

In DOCK8 deficiency, treatment decisions are not only about what to do, but when to do it.

Transplant outcomes depend on multiple factors:

• The child’s current health
• The extent of lung or organ damage
• Viral burden (including severe molluscum)
• Nutritional status
• Donor availability
• Centre experience

Children must be sick enough that transplant is justified, but well enough to survive it. This balance is delicate.

For younger children like Sadie, doctors must consider age-specific risks. For older children like Jesse, they must consider accumulated immune damage. Each case is individual, even within the same family.

This careful planning can feel slow and frustrating to families and supporters. But it reflects responsibility, not delay. Transplant done at the wrong time can be as dangerous as transplant not done at all.

• EBMT/ESID HSCT guidelines for IEI (timing considerations; donor and conditioning strategy principles). EBMT+1

• Conditioning regimen considerations in PID/IEI (review). PMC

• UK Paediatric BMT Group indications (HSCT indications framework; UK practice context). bsbmtct.org

It’s been a tough few weeks. Things are moving slowly and the process of formalising a treatment plan has been incredibly challenging. Every step feels like another layer of complexity but we’re pushing forward and doing everything we can to get Sadie and Jesse where they need to be.
The kids had their third round of immunoglobulin treatment yesterday, which helps maintain their weak immune systems while we continue to research and investigate the transplant path. It’s laborious and difficult process. Clayton and Lee-Ann have now been shown how to administer the infusions themselves, which they’ll need to do twice a week at home. The first attempt with Sadie was very traumatising. The needle caught a small vein and they had to start again. She cried a lot. Jesse was incredibly brave and tried comforting her, holding her hand, but he struggled too, showing side effects of nausea, trembling, and feeling generally unwell. It’s painstakingly difficult to watch let alone administer the needles into their little bodies.
We’re still trying to find the balance between keeping them safe (contained) and giving them some sense of normal life. They’re not in a “bubble boy” situation, but their exposure to the outside world is still extremely limited to avoid potentially risk. We try to find joy in the small ordinary things that are still possible. Jessie starting to ask the very difficult questions related Why – cant I go to school, see friends, wee-jump etc.
We continue our efforts in trying to connect with the identified researched Hospitals and Facilities where this procedure has been exercised with high percentile results however, it’s a complex process of getting to the right department, the correct individual to talk to. We are making some progress but no clear path as yet.
On Thursday last week, we had the privilege of meeting with Professor André van Niekerk, who brings an incredible depth of experience in primary immunodeficiencies, yet another round of checks and balances on the children, sharing his experiences with similar transplant and his recommendations – “this condition needs to be addressed with urgency”. His insight was very valuable to us right now because he understands the broader context of transplants and the associated risks in this very uncertain time.
This is a long, difficult road. But we’re remaining hopeful and positive every day.
Thanks to everyone, you make all the difference and we are forever grateful.
With love,
The Krause Family