Sam (ML III)

Sam (ML III)

Sam has ML III.

Sam was diagnosed with Mucolipidosis III (ML III) in September 2008.

Sam was born in 2002, a healthy little boy, with a couple of ‘anomalies’ to his health – talipes in his right foot, a Mongolian blue spot, and a deep sacral dimple, and his teeth were showing through his gums.

The Consultant Paediatrician at Rochdale Infirmary gave Sam the once over before he could be discharged to go home. The dimple was safe, the foot could be massaged back into position, and the Mongolian Blue spot was typical as I, (mum) was of Oriental origin, and dad was a mix of Bengal and Scottish. Dr Smith said Sam was fine and healthy, but would like to keep an eye on him to make sure he developed normally.

Sam had various hospital check ups which didn’t amount to anything being amiss with his development.

Sam was late to start walking, just two weeks off his second birthday, but he learned to steady himself and walk and run. Sam was never keen on jumping or climbing, and took his time climbing the stairs.

When Sam was three, his little brother, Edward arrived. Sam was still at nursery, when the carers pointed out that Sam was having difficulty with his grip, holding crayons, cups and cutlery. His handprints were never legible enough to distinguish palms and fingers. Sam was upset that he couldn’t clap along to songs with his friends.

On our next visit to the doctor, I mentioned Sam’s fingers were stiff and bending inwards like a claw. We were referred to Occupational Therapy and plastic surgery at Wythenshawe.

Sam was given hand splints to wear at night. Over a short time, Sam’s fingers began to stretch out, and Sam had full motor movements in his hands. As Sam seemed to be developing normally, he was discharged from the clinic.

As Sam was our first child, we had no one else to measure his development against. Edward walked soon after his first birthday, and soon began climbing, jumping and running everywhere, at times, overtaking Sam. Sam still seemed to be moving at a slower pace, but we just dismissed it as every child being different. If Sam did jump or fall, he would fall heavily, and seemed unable to cushion his fall. He seemed to stumble and trip up a lot too.

Around Sam’s sixth birthday, he developed a bad chest infection. On the second visit within a week, the GP asked me if I was aware that Sam had a heart murmur. Sam was referred to the cardio department at Manchester Children’s Hospital for verification.

I asked if the doctors could check Sam’s shoulders and legs as I didn’t think Sam had full range in his shoulders, and he was beginning to limp a bit. Sam also seemed very stiff when he got up after sitting down for a while. He looked like an old man slowly levering himself up.

In the back of my mind, little anomalies were cropping up with Sam’s development, especially his movement and constant build up of mucus following an infection. I didn’t want to appear a neurotic mother, but I also didn’t want to ignore all the signs.

The doctor said he would refer Sam back to a genetic counsellor to see if she could find a genetic link between the hands, heart and joints. During Sam’s appointment, blood and urine samples were taken and shortly after, we were asked to attend a meeting and were told that the samples taken had shown that Sam had a rare genetic condition called ML III. We were to attend St Mary’s Hospital to meet Prof Ed Wraith who was a specialist regarding the condition. He would explain what the condition was and how it would affect Sam in the future. We were asked if we were planning on having any more children, as we would be advised to take genetic counselling. From our description of Edward and his antics, they didn’t think he had the condition, although he may be a carrier.

We met with Prof Wraith, and he examined Sam first before explaining things to my husband and I. He said Sam was at the lower end of the spectrum of MLIII, which was probably why it hadn’t been diagnosed earlier. He explained the characteristics and symptoms of the condition, many of which corresponded to Sam’s symptoms.

Both my husband and I, unknowingly were carriers of the ML III gene, and had passed this onto Sam. Everything was starting to fall into place. The reasons why Sam didn’t like to jump, or why he was limping were due to the pain in his hips and legs. Sam also struggled to dress himself, especially his top half. He would struggle putting his head and arms in, or undressing.

I felt a kind of sense of relief that I wasn’t imagining things, and that I wasn’t just a neurotic mother. It was now time to start thinking of the future, and what we could do for Sam. My husband took it badly at first, wondering “Why us?, why Sam?” We both have our low moments at times, but luckily not at the same time, as we always seem to be there for each other and supportive when the lows hit.

Sam still runs around to his best ability, and loves to play football and cricket. He has swimming lessons, which help to keep his joints moving. He loves playing on the Wii. We make sure he’s playing the games with plenty of movement.

Sam has tried to ride a bike, but can’t get the speed up as it causes him pain. He and his brother still drive us crazy when they are squabbling, like all other siblings do.

We’ve tried to explain to Sam about his condition, and what may happen in the future. He kind of understands, but often asks why Edward isn’t the same, as he is his brother. How can we explain this?

Although Sam is at the lower end of the spectrum for ML III, it still poses an uncertainty for his future. We don’t know if a cure will be found, but we are happy that Sam is under the care of excellent medical professionals.