Johana and ella
In 2015, the teachers at our eldest’s daughter’s high school noticed she was struggling with remembering things. Johana was 16 and had always experienced learning difficulties. However, the teachers were concerned, so we took her to see a pediatric neurologist. In early January 2016, after an MRI and blood and urine tests, Johana was diagnosed with MLD (Metachromatic Leukodystrophy). We had never heard of MLD or even leukodystrophy. This was a huge shock and a steep learning curve, as we had no idea how it would affect the girls. Johana was offered the only treatment available to her at the time, which was a stem cell transplant. We were told her younger sister Ella could be a matching donor, but they suggested we have her tested for MLD too as the condition is genetic. Ella was very bright and always did well at school. She was an avid reader and did not have any learning difficulties. For this reason, we were convinced Ella could not possibly have MLD as well. Ella was tested and on the same day she had her MRI scan we received the unfortunate news that she too had MLD. We were devastated, both girls had the condition, Ella however had no symptoms.
Both girls were offered the same treatment at the Royal Children’s Hospital here in Melbourne, Australia. Johana underwent a stem cell transplant first in April 2016. She received a double cord blood donation; Ella underwent her transplant in November later that same year and she received a bone marrow donation.
Following the transplant Ella unfortunately had a cognitive decline, Johana remained stable. Both girls now have cognitive impairment, affecting their short-term memory and present with an intellectual disability.
Johana is now 25, and Ella is 22. We are fortunate and grateful that they can receive government disability funding, which allows them to attend a day program and participate in community activities. Johana works, with the help of her support worker, at a cafe where she bakes twice a week and once a month she sells her cupcakes at a local market. Once a week, Johana also volunteers, again with a support worker, at a food bank, preparing meals for the homeless. Ella is hoping to find work too soon.
Both girls also attend pottery classes and dance classes. They love going out to cafes, the movies, ballet, musicals, concerts, and music festivals. They do all these wonderful activities with the assistance of their support workers. They both also love baking and cooking and helping prepare dinner.
After everything the girls have gone through, they continue to remain optimistic about their future. They both hope to keep doing all the things that make them happy and live meaningful lives. They have each other for support, but they also have a wonderful team, from their support workers, to their doctors and allied health workers.