Our dear Mukkie

Muk is our first child, our beautiful daughter. A little girl with a heart of gold: sociable, sweet and sensitive, but also strong, with a mind of her own that makes her so unique. During the pregnancy, everything felt right. We had an extensive NIPT test and several ultrasound scans because we loved following her growth up close. We expected a healthy child and a future full of beautiful moments.

The early years

When Muk was born, we thought everything was fine. The first years seemed normal. She laughed and played, but we noticed small things: she was not really walking on her own and often fell, she had frequent colds, and her language development was falling behind. As new parents, we were not sure what was normal; we thought every child develops at their own pace.

Still, something did not feel right. After we pressed our GP and visited an ear, nose and throat specialist, we learned that Muk had a lot of fluid behind her eardrum.  She needed ear tubes to improve her hearing. A hearing test showed that she had been hearing as if ‘underwater’ for a long time. No wonder her language and balance were falling behind. We had hope: perhaps this was what had held back her development. But the progress never came.

The diagnosis

When Muk was almost three, she had further tests. Blood and urine samples were taken under anaesthesia. We waited anxiously for the results. Then came the moment that changed our whole lives. The paediatrician said: “I have bad news, the worst I could have given you. Muk has Sanfilippo, a severe and rare metabolic disease. Type A, the most aggressive form.”

Those words hit us like a bomb. It felt as though our future had been pulled out from under us. What do you do when you hear that your little girl may only have 15 years? That she will slowly lose everything that makes her who she is? Speaking, eating, walking, and eventually recognising the people who love her. Watching her decline, bit by bit, without being able to do anything about it is indescribably heartbreaking.

Sanfilippo is a form of childhood dementia. It is a rare, inherited metabolic disease that mainly affects young children. Sanfilippo prevents the body from properly breaking down certain waste substances. These substances, which would normally be cleared away, build up in the brain and cause increasingly serious damage.

Muk has this disease. Around her third birthday, we noticed that her development was falling behind. Her speech and movement were not progressing as much as those of other children her age. This led to extensive medical tests and, eventually, a heartbreaking diagnosis: Sanfilippo type A, the most aggressive form of the disease.

Children with Sanfilippo often develop normally at first, but after a few years they begin to fall behind. Speech development stalls, movement skills decline, and daily activities such as walking, talking or eating independently become increasingly difficult. Eventually, they lose their independence completely. Behavioural problems, epilepsy and pain are also common.