Emily, (4) our youngest, has Phelan-McDermid Syndrome (PMS). She was diagnosed at 12mths but before we got her diagnosis there were a number of signs, along with many other characteristics of PMS, that she had difficulties with her mobility.
Emily was having a lot of difficulties moving when she was very small and meeting the usual mile stones from birth were a challenge for her. At first this was obviously quite worrying for us as parents that our baby girl was unable to do the basic movements she required to develop. We didn’t want to compare Emily to her older sister, but we could definitely see she was having a lot of trouble.
When Emily was born her legs had to be put into plaster casts due to incorrect positioning in the womb so luckily for us she was having physiotherapy care from birth. Once they noticed Emily’s mobility difficulties they worked hard with her and gave her lots of different exercises to do at home. Progress was slow, but even the smallest achievement was massive for Emily and celebrated to the max.
Once we got Emily’s diagnosis of PMS at 12mths we learnt a lot about hypotonia, low muscle tone. This explained a lot about Emily’s mobility issues.
Having hypotonia makes every movement an effort for Emily. She gets tired very quickly and is still quite delayed in her mobility now at 4. Hypotonia affects her whole body. Even when Emily gets a cough it takes her longer to get rid of it and it usually turns to a chest infection because her muscles don’t work as well to move it on.
Now at 4 Emily has learnt to walk, very unbalanced, wobbly, gets tired quickly and has little sense of safety or spacial awareness, but she is mobile. She also recently learned to crawl up the stairs at home, we give her a lot of assistance and support but it’s such an achievement for her. She’s also started to lift her head up more and it’s so lovely to see her beautiful face and get some eye contact plus she can start to see where she’s going better.
The hypotonia in her arms seems worse than in her legs meaning feeding herself, clapping, playing with toys and communicating using Makaton signing are all very difficult for her. She is non verbal so it makes communication very challenging. Any form of communication is so important so she uses the iPad a lot, but her understanding is limited so even this is at a very basic level.
We are still and always will be working hard to progress all of Emily’s movements and improve her mobility. She has a snappy pushchair to use when we are out and about and she wears special orthopaedic boots to support her ankle, her flat feet and help her walk. Although she can move around the home, walking outside is a lot more difficult and has many safety issues. With a lot of practice Emily (3.5yrs) managed to climb the slide last summer. This took a great amount of effort, patience and support, but she got there, yay!!! We still stand behind her just in case but we’re so proud of this achievement.
She sees OT and PT regularly at school to help progress with different activities and exercises. With this intervention and work we do at home we’re hoping Emily will continue to make great progress.