While most people will do anything to help their siblings, two-year-old Jonah Jones will be doing more than most when he undergoes a transplant procedure to donate bone marrow to his younger sister Esmae. At just seven months old, Esmae Jones has spent nearly all her life in hospital after being diagnosed with a series of rare conditions.
After noticing something wasn't right with their baby when she was just two weeks old, parents Peyton Bowen and Jordan Jones from Llanelli were given the devastating news that Esmae had been diagnosed with aplastic anemia and STING-associated vasculopathy with onset in Infants (SAVI). Both incredibly rare conditions.
As a result, Esmae is unable to fight off infections and her tiny body has to work so hard to keep her going that she has fought heart failure in intensive care. Find more of our health stories here.
Read more: Miracle baby born without airway finally goes home after spending his whole life in hospital
Aplastic anemia is a condition that occurs when your body stops producing enough new blood cells. The condition means Esmae is unable to fight off bacterial infections and is more prone to developing them. Alongside this, while testing for means to control the anemia, doctors discovered the seven month old also had SAVI.
SAVI is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs. Peyton said doctors had told her and Jordan that Esmae was the first baby to have the rare genetic disease and both parents not be carriers.
Peyton first started noticing problems with Esmae in July, 2022, when she was just two weeks old after white spots started appearing on her body. After several trips to Glangwili Hospital and different antibiotics which did not work, Esmae was transferred to Noah's Ark children's hospital in Cardiff where specialists discovered the rare diseases.
Esmae underwent several blood culture tests which consistently showed there was no infection present as well as a bone marrow test and a lumbar puncture before doctors were able to find the cause of her illnesses. Peyton said: "On November 9 we had an appointment up in Cardiff with Noah's Ark for Esmae to go through a bone marrow test. You can get more local news and other story updates straight to your inbox by subscribing to our newsletters here.
"The consultant doing it turned to me and said: 'I’m not looking to find something', but her results came back really quickly the same day and they said she’s got aplastic anaemia. Obviously, as parents, because you’ve never heard of it you’re like ‘what’s that? How serious is it?', you have no idea. That's when we were told that she would need a bone marrow transplant."
Three months later, in January, 2023, doctors also had more devastating news for Peyton and Jordan as they found out that Esmae had SAVI, an incredibly rare condition which impacts her lungs and causes inflammation. The condition is so rare that in 2017 only around 25 people were known to have been diagnosed with it.
Peyton said it had been a difficult diagnosis because the doctors knew so little about the disease. She said: "The consultant actually told us that we will know more about SAVI than the nurses on the ward because it’s so rare. They said Esmae was the first baby to have this genetic disease and both parents not to be carriers. She will be the first baby to have it transplanted on."
"The main thing we know is that it’s not curable but it is treatable, so it’s just finding out how to treat it." Once they were given the news that Esmae would need a bone marrow transplant, Peyton, Jordan and their two-year-old son Jonah all had tests to see if they were suitable as a donor, with doctors warning them this was unlikely to be the case.
However, defying all odds, Jonah came back as a 100% match to his little sister and will be able to complete the transfer when she is well enough. Esmae will need to undergo around seven rounds of chemotherapy before she will be able to have the transplant procedure.
The transplant will need to be administered in Newcastle Children's Hospital and will require the family staying in close vicinity for three to six months while doctors monitor Esmae's response.
"I am honestly so proud. Jonah is boisterous, he is so wild but when it comes to Esmae he is so gentle and so besotted by her. To look at him it makes me emotional to think ‘you’re going to save your sister's life’ and he has no idea. He is so young he’s not going to remember, Esmae isn’t going to remember."
While it will take some time for the transplant to work and for Esmae to feel the benefits, while Jonah will have to be given general anaesthetic, other than a sore back for a few days the procedure shouldn't be too invasive, "which is a relief as it would be awful to have two really poorly babies on our hands," said Peyton.
Bone marrow is a spongy substance found in bones. It manufactures bone marrow stem cells and other substances, which in turn produce blood cells.
Sadly , when the family arrived in Newcastle on January 29 for what they believed was a meeting about the transplant and how to proceed, doctors pulled Peyton and Jordan into a meeting and explained that they thought that baby Esmae had heart failure and would need to spend time in intensive care to recover.
"That, as parents, is the worst thing you could ever hear," said Peyton. "Basically it’s up to Esmae [if she can go through with the transplant], if she responds to the medication they are going to give to try and save her heart. The SAVI affects her lungs, the infection was so big she was only breathing with one lung so that is what made her go into heart failure because she was trying so hard to breathe, she tired herself out."
"Everything just happened so quickly. If you would have seen her a week ago you would have thought what a poorly baby, she has fought heart failure, she is off a ventilated mask and she is on high flow oxygen. She has fought everything that has been out in front of her in just seven months."
After a week in intensive care Esmae was finally allowed back onto a general ward where she is now building up her strength to hopefully have a successful bone marrow transplant from Jonah when she is ready.
"We will get through it. We are a strong family. Esmae is such a fighter" said Peyton. Both Peyton and Jordan have started a facebook page to provide updates on Esmae's condition which is being followed by hundreds of people. In one update Jordan wrote: "The fight and strength the daughter has shown already makes me the proudest father alive, the things she's been put through I can honestly say I'd never be able to do it".
A family friend has also started a fundraiser for the family to help pay for their stay in Newcastle while Esmae receives treatment and to raise awareness of her condition. It can be found here.
Read next:
- 'There was something wrong with my baby's head but doctors didn't believe me'
-
Baby born at 23 weeks who weighed the same as a loaf of bread had just a one in five chance of survival
-
'I gave birth to a 1lb baby at home and he was so quiet I thought he was dead'
-
Baby born without upper airway baffles doctors as to how he's still alive
-
'My son may never walk, talk or interact normally after his traumatic birth'
