‘Nothing else really matters’: After a rare diagnosis, a family fights for time

“Our life is about making Connie as comfortable as possible. That is what we do.”

Connie was bright, energetic and active. She enjoyed reading books, helping her parents make shopping lists, climbing trees and going down the slides at the playground.

Then, when she was five years old, something seemed to change.

“She became clumsy and she didn’t want to do the things that she’d enjoyed,” recalls Connie’s mother, Nicola Elson. “She was doing things that toddlers would do, like tip water onto the table and splash in it with her hand, or scribble on the wall in pen.”

At first, Connie’s teachers thought that she was simply acting out. But Nicola and her husband, Ian, knew something was wrong. They took her to the hospital for a CT scan, and their worst fears were realized: Connie had a degenerative brain condition.

Further tests led to a specific diagnosis that would upend the Elsons’ lives. Connie had metachromatic leukodystrophy, or MLD, a rare and life-threatening inherited disease of the body’s metabolic system. MLD is caused by a genetic mutation that results in the accumulation of fats called sulfatides in the brain and other areas of the body, leading to loss of sensory, motor, and cognitive function. Currently, there are no approved treatments for MLD.

Connie rapidly declined following her diagnosis. Within three months, she was no longer able to walk. Within six months, she could not speak. With each unwelcome milestone, the family began the grieving process all over again.

The Elsons, who live in the UK, have two other children, Joe and Miriam. Joe, who was also diagnosed with MLD, doesn’t have many memories of his older sister before she lost the ability to walk and talk.

Today, Ian says, “Our life is about making Connie as comfortable as possible. That is what we do. Nothing else really matters.”

He adds that the family has learned not to take small, seemingly ordinary moments for granted – knowing that they are anything but.

“Quite often, she’ll wake up in the morning and you’ll get a beaming smile,” Ian says of Connie. “Those moments are so special now.”

This is representative of one family’s experience with MLD. Experiences may vary. All medical assessments and decisions should be made in consultation with a physician.

Read about another family’s experiences with MLD.
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