We first read about him on The Straits Times; it got us curious to know more about this Singapore boy whose leg was saved by a novel stem cell procedure.
Rare genetic disease
Little Javier has a very rare genetic condition called Fanconi anaemia. Apparently, only four others in Singapore are known to have this disease, which is an inherited blood disorder that leads to bone marrow failure.
Mum Vivian, 34, informs us, “When Javier was 2, we had to do some minor surgery. Before the surgery, some procedures were done, the test results came back with really low platelet and overall blood count.
At first, the doctor suspected it was leukaemia but it was found to be otherwise. Our main doctor suspected it to be a rare blood disease and sent the blood sample to Australia for testing, as Singapore does not have the facility to test for this disease. A month later, the diagnosis was confirmed.
He almost lost his leg
They thought of using his brother, Javen’s, cord blood for Javier. But unfortunately, it did not match Javier’s. Eventually, the hospital found a good match in the public bank.
They started the stem cell transplant on 2nd Dec 2014, when Javier was seven. Usually cord blood transplant can take up to 3 months to engraft.
Unfortunately, the cord blood transplant did not work out for Javier, his body rejected it.
He suffered multiple infections, and a bone infection so serious that the doctor told us that if things got worse, they would need to amputate the leg.”
Challenging period
One can only imagine what the family went through. Vivian recalls, “We could not imagine him without a leg. Our minds were filled with images of him running carefree.
We were worried, upset and anxious. But we did not lose hope, we believed that things would get better, that maybe the engraftment would take place the next day. Every day, we hoped that the blood count would increase.
Javier went in and out of the surgery room; the bone infection was so bad that he needed 12 operations within a month. The infection spread from ankle up to the knee.”
Javier was in urgent need of a stem-cell transplant. His body had to create new blood to save his life and defeat the nasty infection in his leg.
Go to the next page to find out how they saved this Singapore boy’s leg!
Novel stem cell procedure
Javier’s health was at stake and finding the next perfect donor could have taken months.
That was when the doctors at SGH, and Dr Rajat Bhattacharyya of KK Women’s and Children’s Hospital (KKH), opted for a haploidentical transplant. This novel transplant method required the donor to be only a 50% – not 100% – match. This finally meant that his parents also became suitable donors.
Earlier, in the absence of the new method, the chance of a parent being a match for his child was low. So doctors had to rely on siblings, where there was a 1-in-4 chance of a match. When that failed, they would have to search for unrelated matching donors in the public bank.
Many children and adults have already benefitted from this new transplant method in Singapore.
For Javier, it meant that there was hope finally. His daddy, Jimmy, was now his donor.
Dad as donor
Vivian reveals, “The stem cell transplant was done on 30 and 31 Jan 2015. Prior to that, my husband Jimmy got admitted in SGH, and had to undergo the donation process for 2 days.
He donated in total, 2 bags of cord blood. Compared to the cord bank, the dose is more than double, as more dose stands a higher chance of engraftment. The donation process extracted the cells that would not cause problem to Javier’s body and returned the rest of the unused cells back to Jimmy.”
Braved the pain like a super hero
Javier, on his part was such a good boy, he even won the ‘Inspirational Patient Award’ this year, in April.
He would keep himself busy all day with his Nanoblocks and favourite superhero figurines, to distract himself from the pain.Says Vivian, “He would often mumble to himself, ‘Don’t think about it, don’t think about it’ when the pain hit him hard. As a parent, seeing my child go through this, was indeed very heartbreaking but we couldn’t appear weak. We needed to be his strong support so that he could brave through this period.”
This little angel even Skype-d and wrote letters to other patients undergoing similar procedures to cheer them up. When he was discharged, he made Thank You cards for the doctors and nurses filled with origami flowers.
Go to the next page for more on this little hero…
Return to normal life
Today Javier is a healthy, happy child (touchwood!).
The only downfall is that his skin is really dark and dry, because of Graft versus Host Disease (GvHD). So how have people been reacting to this change in appearance?
Vivian shares some unpleasant truths, “Whenever we go out, we encounter many unfriendly glares and stares. At times, children ask us why he is so dark. I think these cannot be avoided, we tell him to ignore it and constantly remind him that he has been through so much, which others will never understand.
It is pointless to bother about what others say. Just be yourself, you do not live for them.”
Back to school
Javier returned to school in May this year and is now in Primary 3. Prior to his return, he was with ARC and Club Rainbow to help him transit back to school life. “We truly appreciate the help ARC and Club Rainbow have given him”, adds Vivian.
Advice to other mums
Vivian has only this to say to other mums, “Don’t give up hope on your kids, for you are your kid’s hope as well. Things might not change overnight, but everyday is a good opportunity for things to get better.”
Little Javier wants to be a scientist when he grows up and he wants to help other people with his inventions. May his dreams come true. Here’s wishing the family Merry Christmas and a blessed New Year!
Also READ: Singapore’s youngest donor saves two lives!
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