On the blog Martim Margaça’s mother created to record his life, there is a ticker showing how many days, hours, minutes and seconds it has been since his liver transplant on Oct. 24, 2009.
Martim was diagnosed with Alpha-1 Antitrypsin Deficiency when he was just 3 months old, but only after a long battle with a team of pediatric surgeons who refused to believe it could be true.
Alice Margaça, Martim’s mother, says she was shopping at a baby store when a stranger pointed out that her son, then 2 months old, was jaundiced. Margaça knew this was not normal. Immediately, she called Martim’s pediatrician and rushed to the nearby children’s hospital.
She says that she and her husband Paulo spent the next 20 days in the hospital with Martim, “and after many tests and exams, the gastro and surgeon team told us that our baby had biliary atresia,” a condition in which the common bile duct between the liver and the small intestine is blocked or even absent in newborns.
Doctors wanted to immediately perform a Kasai procedure. This is the usual treatment for biliary atresia, a temporary fix until a child with this condition can undergo a liver transplant.
“However, our pediatrician was there and questioned the team about Martim’s abnormal Alpha-1 Antitrypsin levels. They told him they were not considering Alpha-1 and that they were 99 percent sure he had biliary atresia,” says Margaça.
At this point, overwhelmed with the multiple and scary diagnoses being discussed, Margaça and her husband felt they needed to do some research of their own.
Like most people, the Margaças had never heard of Alpha-1 Antitrypsin Deficiency. When they discovered it was a genetic condition that affects the lungs and/or liver, Martim’s parents wanted to rule it out with a blood test before agreeing to any of the surgeries that the doctors were so ardently pushing for.
Apart from the Kasai procedure, the team had suggested exploratory surgery as well. “They just wanted to open him up, see his liver and document his evolution from the beginning, doing whatever they wanted without me questioning.”
When the Margaças refused any of these invasive procedures, and instead pushed for Alpha-1 testing, doctors went as far as to threaten to call social services. “Thank God our pediatrician was there to support our decision,” says Margaça.
Finally, on the 21st day in the hospital, Martim’s pediatrician called a private lab and the next morning they had the diagnosis. Martim was a ZZ Alpha.
Though relieved to have an answer after such a long and difficult journey, the diagnosis was still devastating. “The first complete article we read about Alpha-1 said that children wouldn’t pass 8 years old,” says Margaça. “My baby, my sweet baby couldn’t die. We had to do something.”
The Margaças visited Dino Hadzic, MD, an Alpha-1 liver specialist at King’s College Hospital in London. They made an appointment within that same week, and Martim underwent his first biopsy at just 3 months old.
Martim’s parents were happy to hear he would not need a liver transplant in his first year of life. Hadzic did explain, however, that his disease was progressing, and there was still a 50/50 chance of Martim needing a liver transplant in the future.
“With Dr. Hadzic we learned about Alpha-1, how to help our son, possible prognosis and how to live with it. We didn’t find a cure. But we found hope,” Margaça says
“We returned to Portugal with our baby and we learned how to live with Alpha-1 and how to prepare our son, physically and psychologically, for a possible transplant. We also prepared ourselves to be his donor. We made arrangements in our lives, work, etc., to leave to the UK for a liver transplant, when and if Martim needed one.”
Eventually, he did.
It wasn’t until Martim was 2½ years old that he showed new and frightening symptoms. “I had a 2-year-old baby boy who was always on my hips with his little hands around my neck, watching other kids playing without the energy to play with them or sometimes even to smile,” says Margaça. “He had bleedings, lack of energy, osteoporosis, bone fractures, etc. We knew it was time for a transplant.”
After an evaluation by Dr. Hadzic confirmed their suspicions, the Margaças left Portugal in September 2009 for London.
In October, doctors at King’s College Hospital took what Margaça calls “a beautiful piece of liver” from his father, Paulo, and transplanted it into Martim.
“The surgeon told us that Martim was now the owner of one of the most beautiful grafts he had ever seen and that this new liver would work perfectly. And he was right.”
Martim will be 7 on Dec. 7. “He is a new kid, FULL of energy,” says Margaça. The boy, who for the first years of his life was limited because of his liver disease, is now riding a bike, a scooter, and playing football, “even though he has two left feet,” jokes Margaça.
His big sister Marta is 9 and not even a carrier. But Martim’s little sister, Maria, is a ZZ like him.
“Being pregnant again was a surprise,” says Margaça. “In Portugal, we have the option to end the pregnancy in this situation, but that was never an option to us. Ending this pregnancy was like killing Martim just because of Alpha-1.”
Little Maria Margaça is now 1 year old, and shows no signs of liver disease. “She doesn’t take any medicines and we hope she will never need to,” says Margaça. “She is like a reward to us, after all we’ve been through with Martim. Maria is healing my and my husband’s hearts.”
Although Martim cannot remember his transplant, he loves to tell people about his scar and why he has it. “He has such a wonderful personality, such joy and happiness. He is always smiling and saying funny things. No one is sad around him. He lives his life to the fullest every day!”
Visit Martim’s blog here.