I'm running the Kettering Half Marathon on Sunday 9th March. I took this on as a personal challenge with some work colleagues to get me running again, but I would like to take the opportunity to raise money for the Malan Syndrome Foundation - a cause close to our hearts! Our youngest child was diagnosed with Malan Syndrome just over a year ago. Being such a rare and newly identified condition (it was first named in 2010), we as a family are so grateful that there is a Foundation to support and connect families. Their resources have been a lifeline and allow us to educate our Doctors, as medical knowledge is so lacking on the condition. Your donations to the Malan Syndrome Foundation (Nonprofit | Malan Syndrome) will support families and fuel the scientific research into the condition, to explore treatments and – maybe one day – a cure.

Our story..... Our son Ben was born in March 2019, to very happy and proud parents and big sister Georgia. But it wasn’t long before complications arose and it became apparent that Ben was struggling to meet milestones. He had trouble feeding and his weight dropped. At just six weeks old, Ben had a cardiac arrest after contracting viral meningitis and bronchiolitis, for which he had to be resuscitated. When he recovered, he continued to experience developmental delays, and he was consistently in and out of the NHS system with varying concerns around breathing difficulties, infections, hearing problems, an eye squint, low muscle tone and a fast-growing head circumference. Ben had 12 hospital inpatient admissions before the age of 2.

Finally, in December of 2023 we received genetic test results which tied Ben's challenges together: he was diagnosed with an ultra-rare genetic neurodevelopmental disorder called Malan syndrome. Malan syndrome is caused by a mutation of the NFIX gene. Our genes act as the instruction manual for our body to make the proteins required for it to function. Ben has one tiny spelling mistake (a missing letter) in his instruction manual, which means he doesn’t produce enough of a specific protein that is important for brain and muscle development. There are only around 350 people diagnosed with Malan syndrome worldwide. It causes a range of issues, like intellectual disability, skeletal abnormalities, vision and hearing problems, anxiety and epilepsy, among other things.

While Ben's early years have been tough, he has also been such a source of joy and inspiration. Ben is unable to communicate with many words (he is still working on speech sounds and communicates mainly with makaton signing, his own version of some words, and some elaborate charades!). Yet he is such a social, loving, affectionate and funny boy, with a wicked sense of humour. He loves dancing, dogs, and his friends and family. And we love him.

Thanks for reading.

Please visit www.Malansyndrome.org to learn more.