Luxembourg family opens up about baby's incurable condition on Rare Disease Day

Rare Disease Day, held on the last day of February, shines a light on rare diseases and pushes for better treatment and support for those affected. It’s no coincidence that in leap years, it falls on 29 February – the rarest date of all.

Baby Timo was diagnosed just a matter of weeks ago, at two months old, with a severe genetic rare disease – so rare that it has only been identified in around 100 children worldwide.   
 
Timo's brain stopped developing at one month as the condition is caused by mutations in the WWOX gene. This gene plays a crucial role in brain development and other cellular functions.  
 
Jane explains that her infant son faces extreme motor limitations and will not be able to walk, talk or even lift his head. To compound the sense of helplessness, there is currently no cure for this disease.

A chance at life 

After what was a healthy and normal pregnancy, Jane said she knew early on after the birth of her much-longed-for baby that something wasn't right.  
 
The disease, she says, first manifested as epilepsy. Following a series of tests in Luxembourg and Belgium a cruel reality unfolded and the couple was given the brutal diagnosis.  
 
Unfortunately, with every passing minute, Timo is losing the chance to develop, his mother tearfully admits. 
 
At the moment the emphasis is on symptom management and the only way to help her son is if he receives gene therapy or if an alternative therapy is found. Jane explains that gene therapy is currently under development in the US and hopes are pinned on a clinical trial that may be conducted next year.

However, places will be limited meaning it is not guaranteed that her son will even be included in the trial, she adds. Critically, more funding is needed for the research and development of treatments that might give Timo a chance at life.

Baby Timo has been diagnosed with WWOX syndrome at only two months old. / © Jane Liu

Distress

The couple, who live in Helmsange, have spent the past few weeks "living in a horrible dream" with Timo's diagnosis coming as a huge shock to them. 
 
"We were not aware that we both possess this recessive gene, and Timo has had very bad luck that he got it from us, with just a one-quarter chance. Especially since me and my husband are from two such faraway countries [China and Luxembourg]. We could not imagine something like this would happen."
 
Jane adds that the distressing situation the family is facing has stirred memories of her own childhood. 
 
"Growing up in China as a single child I felt very alone in my childhood. My older son was asking to have a younger sibling since he was three years old. I wanted my child to have a better life and not experience the same loneliness as I did as a child."
 
"I was trying to conceive for five years and I was so happy it finally happened. I was imagining my son playing with his younger sibling, but the reality I have to face is so cruel."
 
"It was definitely a difficult period for me and my family. I was crying a lot and blaming myself. But now I am at a stage of running out of tears, facing the reality and fighting for him to have a better chance of life."

Jane adds that seeing her older son, who is eight, holding Timo in his arms, is the "most beautiful thing" adding that it breaks her heart that the siblings will not be able to play together.

The search for a cure

To develop life-saving treatments, and find a cure for WWOX syndrome, more funding is needed and Jane is appealing to investors, companies, and individuals, in Luxembourg who may be able to contribute and help accelerate the process.

A GoFundMe page has been set up to raise money to fund the research that is desperately needed to help find a cure for the disease and give Timo a chance at life.

For more details, see the GoFundMe page.