The Baby with no Immune System
Nine month old Toby Ellis was born with a rare genetic condition which, only fourteen children in the world have been diagnosed with. Toby has spent much of his young life in hospital. Ipex Syndrome means that Toby is unable to produce the white blood cells that his body needs to turn off the immune system after fighting an infection.
Instead of protecting him, his immune system is attacking his body. Without treatment he won’t see his first birthday.
Toby Ellis has been transferred to a specialist unit at Newcastle General Hospital, where he’s under the care of Professor Andrew Cant, one of the world’s leading experts on Ipex Syndrome. He recalls “By the time he came to us he’d already spent a lot of time in hospital and was really very poorly. I don’t think he would have lasted many more weeks”.
To keep Toby safe from infection, he is kept in a bubble where the air around him is constantly filtered. Lisa, his mother, is not allowed to approach him without following a strict scrub-up procedure. It is a procedure that will help keep Toby alive. She may not kiss or cuddle him for fear of passing, what would be a deadly, infection.
Lisa was training as a nurse when she became pregnant. She separated from her partner soon after Toby was born. She remembers “He looked perfect when he was born. Although he was born five weeks prematurely he didn’t need any special care”.
The only hope of a cure is for Toby to have a bone marrow transplant. Professor Cant considers “What is the long-term outlook for Toby with a transplant? We know that without a transplant it’s hopeless, what is it with a transplant? The short answer is that we don’t know. It’s really only been in the last five or six years that people have begun to understand what this is all about, and in terms of treatment we know of only five or six transplants performed elsewhere, which is very few, and they haven’t gone particularly well”.
Toby must have a bone marrow transplant, but as he’s an only child, there’s no chance of finding a match within the family. The search is on for a donor in time to save Toby’s life.
Ipex Syndrome is a genetic condition usually passed down along the female line. Lisa’s younger sister Catherine is pregnant with her first child. There’s a risk that her baby may have the same condition.
Toby Ellis is one of 7,000 people needing a bone marrow transplant at any time. The search has been going on for two weeks and so far no match has been found. He is given drugs to help stop his immune system attacking his own body. It’s vital that he does not pick up any infection at this time. Toby is unwell and Lisa is distraught, she is unable to pick him up to comfort him.
After a world-wide search for a donor, a match for Toby has been found. The search has led us to Australia where a perfect twelve out of twelve match has been discovered. The bone marrow is matched on a scale of one to twelve. The higher the score the better the chance of a successful transplant.
Before the bone marrow transplant can take place, Toby’s existing bone marrow has to be completely destroyed. He’ll be given chemotherapy twice a day. The highly toxic drugs will leave Toby with no immune system, so he’ll have no defence against infection. From now on he will be extremely vulnerable.
A scientist from Newcastle General Hospital flies out to Australia to pick up the bone marrow. The bone marrow that has been collected consists of stem cells that have the potential to give Toby a new immune system. The bone marrow has to be kept at a controlled temperature for the 24hr journey back to Newcastle.
The bone marrow transplant is a transfusion of donor stem cells that will, hopefully, grow into new white blood cells giving Toby a new immune system. The transfusion will take several hours.
Once the transfusion is over, Lisa will have to wait two to four weeks to find out if it has been successful.
Catherine is now nearly 20 weeks pregnant. The 14 babies around the world who have been diagnosed with Ipex Syndrome have all been boys. Catherine and her boyfriend, Ben, must now decide if they want to find out the sex of their baby. Following a routine ultrasound scan it is revealed that she is carrying a baby boy. This does nothing to relieve her concerns.
Six days after the transplant, Toby develops problems with his breathing. Doctors are worried that this may be an early sign of rejection. Toby is on a nebuliser four times a day to help ease his breathing.
Professor Cant worries “His breathing is still not quite normal, so there’s clearly a little bit of inflammation in his lung. You have an immune system that can go berserk at the drop of a hat because it has got nothing to control it. Just because we’ve knocked it on the head and put a new system in, doesn’t mean the old couldn’t suddenly come up, cause a lot of trouble and have a fight with the new immune system we’ve put in. If that happens we could find that, suddenly, we have a very ill little boy”.
Toby’s blood is analysed every day. Doctors are hoping that he will produce the first white blood cell that he needs to control his new immune system.
Catherine is now 39 weeks pregnant and the baby is in the wrong position and needs to be delivered by caesarean section. The baby, who they have named Henry, was born at 09:50 in the morning weighing 7lb 9oz. A sample of the baby’s blood must now be taken and sent to Newcastle for testing. Catherine and Ben will need to wait 3 weeks to find out if Henry has Ipex Syndrome.
3 weeks after the transplant, while Lisa is on a visit home to Hull, she gets an urgent message to call the hospital. It is good news. The transplant is working and working quite well.
Toby has been in the bubble for 4 months. Now, for the first time, Lisa is allowed to approach him without the need for a rigorous scrub-up. She can hold him, cuddle him, and kiss him.
3 months after the transplant, Toby is able to go home and Henry has been given the all-clear.
