Looking at our beautiful daughter it is hard to believe she has Phelan McDermid Syndrome. Birdy is verbal, walks and has never wet the bed! Birdy was 5yrs old when she was diagnosed with PMS. She had several tests done at the hospital due to Birdy not meeting those magical milestones. Birdy was 4 months into starting at the local main stream school with her big brother, when we received a hospital appointment, for what we thought would be a quick catch up on Birdy’s progress. As we settled down with the consultant I soon realised it wasn’t just a catch up, she began to tell me that the blood test Birdy had over a year and a half ago had gone missing, and had now turned up, this would explain why Birdy was struggling and not progressing as she should.
We were told Birdy had PMS a deletion of only 55Kb, who would believe such a small deletion would be so life changing, not just for Birdy but the whole family. I was sent away with a leaflet that would explain and answer some of our questions and that they would be in-touch as Birdy would need to have her kidneys, heart, eye sight and hearing checked, I’m glad to say are all fine.
We soon discovered we would need all the support we could find, not just family and friends but people who, really understood, this was to come in the form of the PMSF and PMSF UK websites. They have been a real life line, as well it has introduced us to the PMS Support Group Face book page, and the PMSF UK Family days. We’ve made some great friendships with families from the UK and around the world. If you need an answer or have a query whether it be behavioral issues, health, educational, or just a shoulder to cry on there’s always someone who will listen or point you in the right direction, I’d be lost without it as I’m sure most PMS families would say the same.
Birdy’s now 7 and continues in main stream education, she loves school, they have been so supportive of her, and have a separate education plan for her which caters for her needs. She has a one to one teacher who has created a special area within the class which has all Birdy’s special things in. She continues with her speech therapy once a week and school have organised for her to go swimming with the older classes to help with her muscle tone. When we found out Birdy’s PMS diagnosis we were unsure whether to keep Birdy in a main stream school but so far its been the best decision we ever made. The school are constantly coming up with ideas in helping Birdy not only with her education but also her health, my mum who’s a dinner lady at the school spotted her marching round the playground lifting small weights in her hands while counting to five, they’re incredible, the children and teachers love Birdy to bits… WOW!
They say that out of something bad comes something good, and they are right as far as we are concerned, PMS comes with its challenges but we feel it’s what makes Birdy the special little girl she is; quirky, happy, with endless amounts of love. Not a day passes without her amazing us with her achievements no matter how big or small, we consider ourselves very lucky for Birdy to be a part of our lives.
Just remember support is only one click away!