Mahalia is a 21 year old music student who loves chatting, singing and socialising with her friends. But life has been far from plain sailing as her mum, Pat, explains.
Mahalia was born by emergency c-section in March 2003 and wasn’t well from the start. After a few days on the special care baby unit, she came home at six days old. But from then until the age of two, she had a range of health problems including bouts of vomiting, slow development and not gaining enough weight. Various tests were done, various diet plans discussed but nothing seemed to have any effect. I knew there was something seriously wrong. One episode resulting in me challenging a consultant, telling him what was happening to my child was not normal and they needed to do something. So, they had me labelled as an anxious mother with a sick child and contacted Social Services.
After one especially bad vomiting episode that had lasted two weeks, I took Mahalia to the GP again. This time she was floppy and couldn’t really walk or stand. If she attempted to walk, she looked like a mini drunk person. I was told to take her straight to the hospital and was given a letter to take to the children’s ward. Blood tests were carried again and just by chance one of the doctors remembered seeing something similar as a student twenty years previously and asked for her ammonia levels to be checked. The result showed it was over 400 (normal range is single figures). They didn’t have the medication needed at our local hospital in Coventry, so Birmingham Children’s Hospital had to send it over by taxi. The medication started to work, and doctors confirmed that Mahalia had a metabolic disorder also called a urea cycle disorder.
After discharge, a visit to Birmingham Children’s Hospital confirmed that she had Orthnine Transcarbamsylase (OTC) deficiency which was to be managed with medication and a restricted protein diet. It turned out that “OTC deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC) and is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with OTC deficiency. Symptoms include vomiting, refusal to eat, progressive lethargy, and coma.” I also discovered that there was a risk of potential brain damage.
Happily, the medication started to work along with the restricted protein diet which included low protein snacks and milk substitutes. It did mean having to weigh out portions and calculate the protein content of each meal, but things did get better. We had an emergency regimen in place as we learned that the developmental stage of illness would set off a metabolic episode every three months or so, resulting in a hospital admission, so we had a packed bag by the front door just in case.
By the time Mahalia was five, the consultants in the Metabolic Team at Birmingham told me that she wasn’t progressing as they would have liked with the medications and the restricted diet and that for a better quality of life, they would suggest a liver transplant. She went on the list and her transplant took place in September of the following year when she was six.
I can only describe events after that transplant as like being hit by a ten- ton truck. Everything that could go wrong did. It took a good 12 months for Mahalia’s new liver to settle down. This is where her mental health issues started, from remembering the trauma she went through. The liver plodded along for a few years and then Mahalia hit puberty and in 2015 she went into rejection which periodically happened over the years but this time nothing was improving. She had jaundice but being of black Caribbean heritage we didn’t notice a yellow tone to her skin and by the time it started showing in her eyes she was in the grips of rejection. Numerous deficiencies were occurring, vitamin K, potassium, steatorrhea (that was not pleasant), medication induced diabetes, vitamin D and her hair started falling out.
In April the following year the Liver Team at Birmingham told me that without another transplant she had 12 months to live. We were fortunate that she received her second transplant that August and this time things were very different. The previous liver was a split liver. This one was a whole liver, and it kicked in straight away. I remember feeling guilty because she was the healthiest child on the liver ward. Since then, Mahalia’s physical health has been pretty good but the trauma she went through certainly had an impact on her mental health, particularly with the second transplant as she vividly remembered the difficulties with the first one.
I’m a single parent and I have a fantastic support network who have basically held me up along this journey. As for Mahalia, attending CLDF’s Talk Tell Transform workshop was brilliant for her. She was with other teenagers who had issues with their liver and had to take regular medications, and it made her feel less isolated.
Mahalia is now 21 and in her second year of a degree in music business. She loves singing, dancing to K-pop and she loves to talk and has very strong opinions! And although life has always pretty much been just the two of us, she is now forming friends with other young people with similar interests to her, something which was more difficult at high school, but it’s good to see her developing a social life.
I think most parents whose child has gone through a transplant would agree that it’s not a cure – it’s a different course of treatment, so don’t get complacent. For us, five years post-transplant and we were practically back at stage one with Mahalia needing another transplant. Things can change in an instant.
Sometimes it can be difficult to know how to support your child, particularly if you’re not feeling the greatest yourself but I would say keep talking. Mahalia and I talk a lot and even if it’s difficult to hear your child talk about the pain she is feeling, I’m glad that the channels of communication are open.
