Bone marrow transplant for NEMO deficiency

Six-year-old Herb suffers from a rare syndrome called NEMO deficiency, which severely affects his immune system. His story, and how he received a transplant with his brother’s bone marrow at Great Ormond Street Hospital (GOSH), features in the third series of the BBC Great Ormond Street documentary.

Herb was diagnosed with meningitis at 13 months old. But it wasn’t until a year later, when he became unwell with an empyema (collapsed lung), that his family and doctors suspected something more serious might be wrong.

Due to the severity of the bacterial infections Herb had contracted over a period of just 12 months, his local hospital in Oxford started investigating whether there was something wrong with his immune system.

A difficult diagnosis

Herb’s diagnosis was new territory for everyone involved.

GOSH patient Herb and sister Lily
Herb and his sister Lily

Because NEMO is so rare, not many laboratories carry out the required tests. Herb also had a previously undocumented gene mutation, so getting a definitive diagnosis was a lengthy process. Teams from GOSH and Oxford were able to give Herb a final diagnosis of NEMO in December 2012, several years after initial tests had started.

While he waited for a diagnosis, Herb was placed on lots of different medications and treatments that made him feel a lot better. His family were aware that one day there might be a need for Herb to have a bone marrow transplant in order to replace his faulty immune cells. With the treatment working though, that point seemed a very long way in the future.

Herb’s sister’s illness

In May 2013, Herb’s sister Lily started getting very ill. After various tests Lily was also diagnosed with NEMO – a condition which is almost unheard of in girls. 

The severity of Lily’s condition did not seem to be getting any better after several weeks of treatment and she was referred to GOSH. While a bone marrow transplant seemed to be her only option at first, Lily made a quick recovery following a change in her medication and treatment. She was able to return home.

Once Lily had been seen by the specialists at GOSH, they were interested in seeing Herb too. Herb’s treatment was going well at the time. His mum Emily remembers that when the specialists first met Herb “he was bouncing around and everything was going very much to plan”. 

Bone marrow from his brother

GOSH patient Herb and his brother Rufus
Herb and his brother Rufus

Unfortunately, just a few months down the line in November, Herb contracted what appeared to be a virus which made him extremely ill with uncontrollable spiking temperatures. 

An X-ray at their local hospital showed Herb’s lungs were covered in what was later found to be a myca-bacteria (part of the TB family) and in a very similar state to Lily’s earlier in the year. Because Lily had been so ill, specialists took some samples for testing and started treating him. 

Despite Herb being on so many treatments in and out of hospital, he wasn’t getting any better. At this point a bone marrow transplant seemed the only way to get on top of his condition. 

When Herb was finally well enough, he went to GOSH to prepare for his transplant where he received bone marrow from his older brother Rufus, now aged seven. Rufus even pushed the button to start Herb’s transfusion!

Life for Herb and Lily now

After nearly ten weeks in isolation on Robin Ward, Herb’s transplant had proved successful.

He was able to leave hospital and after six months start back at school on a part time basis, which he loves. 

Lily is now doing very well, and a bone marrow transplant for her is on the back burner for now.