11 June 2017
In August 2010 we welcomed our 4th child, Ted into the family. On his initial examination, the midwife commented on his ‘funny feet’. His 2nd and 3rd toes were joined together but we thought nothing of it as joined toes are quite common in our family. (We later discovered this was a common feature of children with Phelan-Mc Dermid Syndrome.) He was as beautiful as we had expected and to begin with everything was easy. After all Ted was my 4th baby and I was an old hat at this.
It was at around 6 weeks that I first started to have a niggling feeling that something was different with Ted’s development. He didn’t start to smile. All of our other children had hit this first milestone bang on time. I gave myself a talking to and reminded myself the age at which my child smiled would not be required on his university application. I got my smile at around 9 weeks and relaxed a little. More and more milestones were not met. At 9 months, Ted was still unable to roll over never mind sit or crawl. The hustle and bustle of our family life went on mostly unnoticed by him. That said, he was a happy baby who ate well and at that time was a good sleeper. When we met with the health visitor to do his 9 month check the reality of just how delayed Ted’s development was hit home. The chart in the little red baby book said his development was the same as that of a typically developing 2 month old. Of course in my heart I already knew something was wrong but I had laughed off saying that as Ted was going to be my last bay I didn’t want him to grow up too quickly. Now I had to face reality.
Just after Ted’s first birthday, we were sent to a paediatrician who poked and prodded, ummed and arhhed. He sent us to have everything checked- eyes, ears, heart, kidneys and referred us to early intervention services for speech and physio therapy. Still I tried to pretend it was all ok. Ted would catch up, I tried to convince myself. Ted would not engage in the hearing test and after 6 months of trying it was decided to do an ABR test. And so we received our first diagnosis. Ted had a severe conductive hearing loss. Hearing aids were fitted and because Ted had no control over his hands there were no issues with him taking them out. There was my silver lining- I was by this point getting very good at finding them. Everyone knew someone whose child had hearing aids and those kids were just fine they told me. Why was I worrying now I knew what was causing the delay they asked. We continued with therapy and accessed services for the hearing impaired. Ted made very limited progress and it became harder for me to stay in denial.
Ted’s hearing loss is the least of his worries but was a blessing in disguise. In April 2012, when Ted was 2, we moved to Australia. Ted still wasn’t crawling but he could sit up with a little support. He had little control over his hands and he had started to have poor sleep habits. He was happy and although he didn’t seek out interaction with others he would engage with people who came to him. Because of the hearing loss diagnosis we were able to access services in Australia immediately. We were referred to a paediatrician and an ENT. The paediatrician ordered a test to check for chromosomal abnormalities. The ENT booked Ted in for grommets. The grommets were fitted within the month and Ted’s hearing loss went from severe to mild/moderate. Things were looking up, I thought.
In January 2013 the paediatrician phoned. Ted’s results were back. He had Phelan- McDermid Syndrome (P-MS). The doctor had never heard of the syndrome. She told me to google it and made us an appointment to meet with her the following week. I googled it and my world come crashing down. The limited information I could find was telling me my child would not walk, talk or even be toilet trained. We met with the paediatrician but she could not offer anything more than Google did. She did put us in contact with the Phelan- McDermid Syndrome registry and soon I received a phone call from Megan, the P-MS Region 8 representative. She listened to me cry and explain between sobs
how scared I was. She reassured me and welcomed us into the P-MS family. As I read the stories of other children with P-MS celebrating their achievements a little hope crept back into my life. Some of the children with P-MS were doing all kinds of amazing things. If they could, then why wouldn’t Ted?
Ted is walking, climbing and loves to swim. He has an infectious smile and I have yet to meet a person who does not fall in love with him. Ted laughs a lot and although his interests are very limited they bring him joy. Ted is currently non-verbal but learning to communicate with an app on the iPad. He attends a special school and is learning lots of things there. We will never say never!
Our life different to the one we had imagined. Ted is also diagnosed with ASD, wears AFOs, has gastro issues and doesn’t sleep well. Appointments are a regular occurrence with Ted currently seeing 5 specialist doctors regularly as well as 3 therapists. This path we have found ourselves on has taught us patience, tolerance and compassion and best of all an excellent ability to always find the silver lining.
PMSF worldwide membership is for immediate family members and carers of children/adults diagnosed with Phelan-McDermid Syndrome.
This membership is free and allows you to be connected to people in your local area.
Once you have registered, a Regional representative will be in contact to arrange your welcome pack and you will begin to receive regular newletters from the worldwide PMSF.Register Now