Our Story to Diagnosis
Preston was born in September 2012. He was a very happy and healthy baby. He also has an older brother, Hunter, who was born in 2011. At 3 weeks old at a midwife follow up, a problem was picked up with Preston’s heart. The Paediatrician confirmed he had a Ventricular Septal Defect (VSD) or Heart Murmur. An Ultrasound showed a 3mm hole between ventricles. It was monitored and over time it closed by itself. He was slow to meet milestones. Rolling over came but he hated tummy time.
Crawling came at 14 months and walking unassisted at 2 years old. When he could sit himself up, 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. When he started walking we were discharged from Paediatrics. After he turned 3 years old his Preschool referred him to a Speech Language Therapist (SLT) for his very limited speech. He also played by himself a lot. He developed a love of the swing and swinging. Early Intervention and SLT put plans in place. An Early Childhood Support Worker (ESW) was hired to help at preschool and a referral was made to an Occupational Therapist (OT).
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 he didn’t like the headphones on his head. When they asked if I had any questions, I burst into tears. My 4 year old son couldn’t complete a sight or hearing test, has limited speech, a lazy eye, rocks and flaps his hands, won’t eat meat or vegetables and isn’t toilet trained. I was offered a referral to a Paediatrician and had repeat visits for the hearing tests but no change.
Visit one to a new Paediatrician was a long one. Visit two he was diagnosed with Global Developmental Delay (GDD). She asked us how we would feel about him being diagnosed with Autism. We wanted to be sure so decided to go ahead with a blood test. Visit three Preston drank his “special juice” and sat on the bed with Dad. He’s so strong. Three people had to hold him still so they could draw blood. He was so freaked out. Afterward, he just wailed. It broke my heart seeing him so distressed, but the doctor assured us he wouldn’t remember any of it.
8 weeks later the results came. “The results show that he has Fragile X Syndrome”. Followed by an explanation, a website to check out and an email address for questions we went home to digest it. A diagnosis! What is it? What does it mean? I’d never heard of it. I had months of sleepless nights googling FXS. Websites, research, joining forums and Facebook groups. Preston has over 200 CCG repeats on the FMR-1 gene on the X Chromosome which means he has full mutation Fragile X syndrome.
Other specialists
He is seeing an Ophthalmologist for his lazy eye. Our first 2 appointments were horrible! How do you explain to a 3 year old who is almost nonverbal and no understanding of why a stranger wants to flash lights and put strange things near his eyes? 13 months after a referral was sent we finally started seeing an OT. They helped us to understand our son so much more. He was due to turn 5 and was functioning at the level of a 2 ½ year old. He has visited Audiology recently for a proper hearing test. I had to demonstrate them first, but we got there in the end. Waiting for next paediatrics appointment for next steps. We have also seen a podiatrist for his flat feet and has started wearing orthotics.
School life
Preston started when he turned 5. He is in mainstream, has ORS funding and Teacher Aide support. He has a number of challenges. One of his biggest is anxiety. We follow the same routine each morning. He doesn’t like seeing his teacher before we enter his classroom. He struggles letting me go at 9am. Changes to routine like fire alarms can really upset his day. A year on we have more good days than bad. His school has awesome teachers, staff and students. Everyone is aware of his challenges and needs. 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. It was something I asked for. As his parent I feel it’s right for him and he loves wearing it. This term he has also been participating in a new music and dance class which is right up his alley – he just loves it.
Everyday life
Preston is a happy, funny and caring boy. He loves apples, chips, movies, dancing, wrestling and rugby among other things. For now, 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 (bells, fire alarms, sirens) and food (won’t eat meat or vegetables). He needs a lot of help with self-care (bathing, toileting, dressing). 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. We are starting a sleep study soon. He’s a co sleeper, a light sleeper and early riser. 2.30am isn’t an appropriate time to start the day! Haircuts, teeth brushing and cutting finger/toe nails were like torture for him. He would cry, struggle, hit, kick and scream. With help and time, we are able to get them all done without too much stress. He also has trouble identifying his own body temp as hot or cold. A nice sunny day and he will refuse to take off his fleecy school jacket.
The trouble living in a small town is getting professionals like doctors, SLT’s, OT’s, Physio etc to stay and work here. Wait times can be long, costs can be out of reach and if there is no clinic here we would have to travel 3 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. Getting information can sometimes be a challenge. Not everything is easily accessible or laid out for you by the professionals. Join Fragile X New Zealand, make connections with other families either locally, internationally or online. There are people out there going through the same or similar 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.
Being a parent of a child with special needs can be so hard, frustrating and draining. You have to spend so much time focusing on the negative and explaining about your child. Telling the same story to so many different people and professionals to get the help needed for your child. At the same time, on the positive, seeing Preston achieving is so rewarding. It’s the small things/rare moments
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. We will do our best to fill his life with positive experiences and help him to be as independent as possible. It won’t be easy but he is already an amazing human being and we know he can do anything.
Meagan, Adam, Hunter and Preston live on the West Coast, South Island.