“There are people out there going through the same or similar situation to you. Join groups, ask questions and ask for help.”
Preston was born in September 2012. At 3 weeks old a Paediatrician found he had a VSD (Ventricular Septal Defect) or heart murmur. An ultrasound showed a 3mm hole between ventricles. It was monitored & over time it closed by itself. He was a very happy and healthy baby but was slow to meet milestones. Crawling came at 14 months and walking unassisted at two years old. When he could sit, he would rock his body back and forth and then came the hand flapping. We didn’t think too much of it at the time.
At his before school check, Preston couldn’t complete the sight or hearing tests because he didn’t understand what he was being asked to do, couldn’t tell them what was in the pictures and didn’t like the headphones on his head. When they asked if I had any questions, I burst into tears. I was offered a referral to a Paediatrician.
After a number of appointments, tests and months of waiting, the results of the blood test came: “He has Fragile X Syndrome”. A diagnosis! What is it? What does it mean? I’d never heard of it. I had months of sleepless nights googling Fragile X - websites, research, joining forums and Facebook groups.
Getting information can sometimes be a challenge. There are people out there going through the same situation to you. Join groups, ask questions and ask for help. Keep pushing until you get what you need. We have some amazing and supportive friends, family and groups now - we don’t know where we’d be without them.
Preston sees a number of medical specialists including an Ophthalmologist for his lazy eye, and a Podiatrist for his flat feet. Thirteen months after a referral we finally started seeing an Occupational Therapist (OT). They helped us to understand our son so much more.
The trouble living in a small town is getting medical professionals to stay and work here. Wait times can be long, costs can be out of reach and if there is no clinic here we have to travel three hours one way to get to another one. Less than a year after we started seeing the OT their contract with the DHB wasn’t renewed, which meant we could no longer see them unless we went private. So frustrating and while it would be worth it, it’s not something we can afford.
Preston started school when he turned five. He is in mainstream, has ORS funding and Teacher Aide support. He has a number of challenges and one of his biggest is anxiety. We follow the same routine each morning - changes like fire alarms can really upset his day. Eighteen months on we have more good days than bad. His school has awesome teachers, staff and students. Whether he is in class or the playground, there is always someone looking out for him. He wears a high vis vest during break times for his safety. As his parent I feel it’s right for him and he loves wearing it.
Preston is a happy, funny and caring boy. He loves apples, chips, movies, dancing, wrestling and he plays Rippa Rugby for a local club. He loves the haka and is a big supporter of the All Blacks. He has the biggest smile and the biggest heart. He is very helpful, he likes to clean and he’s very determined when he sets his sights on something.
Today, he has a lot more words but still has difficulty with speech and communication. He has some fine and gross motor difficulties. He has sensory issues like loud noises and food, and he needs a lot of help with self-care. His anxiety varies but “Go Home” and “See Mum” are on repeat if he’s having a bad day. He has no sense of danger (around water and will run onto road) and we’re unsure of his pain tolerance level.
Being a parent of a child with special needs can be so hard, frustrating and draining. It’s exhausting telling the same story to so many different people to get the help needed for your child. At the same time, seeing Preston achieving is so rewarding. It’s the small things like trying a new food or coming out with a new word that make you so proud. We are only just beginning our journey. It is one full of the unknown. It won’t be easy but he is already an amazing human being and we know he can do anything.
Meagan and Adam
West Coast, South Island
|Condition||Fragile X syndrome|
|Occurrence||1 in 4000 males and 1 in 6000 females|
|Description||A genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment|