On the 12th March 2005 our twin boys Harrison and Noah came into our lives.
I had a wonderful pregnancy. There were some anxieties about a twin delivery and sleepless nights with what we thought were two future AFL players practicing their kicking skills inside of me at night, but other than that it was as easy as a walk in the park.
The boys were born four weeks early by caesarean section at Mercy hospital. Two perfect little boys, all tests indicating healthy normal baby boys. Ahh what a sigh of relief. But how all of that was going to change. The boys were feeding by day four. Noah was always the slower feeder, we just assumed being prem this was probably normal. Noah was what we called a colicky baby; he cried a lot through the night and was very unsettled. Being first time parents with two newborns we just assumed that was what little babies were like. Harrison was a lot calmer, more settled, and better at feeding.
Harrison was reaching his milestones incredibly quick whereas little Noah was quite floppy and found it very difficult to sit up. “He just couldn’t no matter how hard he tried”, of course he did eventually. We had Harrison cruising furniture around eight and a half months and then walking at nine and a half months. And his twin brother who would struggle to sit up.
Alarm bells were ringing – something is terribly wrong here. He can’t just be a late developer and he is not a lazy baby.
We had a consultation with a wonderful physiotherapist Jan Walters at the State Child Development Centre who saw Noah frequently, then referred us to see a wonderful paediatrician Dr Peter Rowe, who fortunately started arranging tests for Noah. These took several months. Noah had an ultrasound of the brain in 2006 and an MRI which showed abnormal signal in the striatum bilaterally. Particularly involving the putamen and caudete nuclei.
Noah was diagnosed with Leigh disease at two and a half years of age. Noah and Harrison have the Mitochondrial ATPase6, T8993G mutation. Noah presents clinically with Leigh’s and T8993G is considered as the cause of 10-20% of Leigh’s and 50% of the neuropathy Ataxia Retinitis Pigmentosa (Narp).
We will never forget the moment that our world was turned upside down the day Dr Rowe delivered this heartbreaking news. Total despair.
No cure, no treatment and really not a lot of answers for the thousands of questions we had. It is such a difficult disease to understand, manifesting in people differently depending on their mutation load. Noah is the most amazing little boy, strong willed, determined, witty and very cheeky. This empowers us as parents to keep striving to give him as many opportunities as possible to be a regular 11 year old boy. Noah has many hurdles in front of him. He can’t walk independently, and uses a walking frame with assistance when he has the energy to do so. Otherwise, Noah relies on a wheelchair, and requires assistance with all daily activities. Despite Leigh disease being degenerative, Noah has made little steps forward which we pray he will continue to do.
He can’t speak, but communicates via communication devices. He adores his brother Harrison, and hugs and tackles him like any normal sibling would. He attends Carson Street School in East Vic Park which has a conductive Education Programme; it helps children with motor disabilities to develop skills necessary to experience greater levels of independence and success in everyday life. This has assisted Noah tremendously. He is a beautiful boy with an enormous amount of courage and determination. Yet as parents we are so frightened for his future.
We are so proud of every little baby step that he has made. Although sadly this is a degenerative disease Noah has made little steps forwards which we pray he will continue to do.
Harrison had an assessment for autism around the same time that we had Noah’s diagnosis; we had been suspicious for some time that Harrison was showing autistic features. Our boisterous, chatty, happy little boy changed. He lost his words and became distant. He would line up his toys and had a fascination for cars, which he continues to do. He would have meltdowns, had poor social skills and barley noticed someone walking into a room. He was still a happy child. Even though we knew we were probably going to be told that Harrison had autism it was still incredibly hard to hear. Two boys with major health concerns. We have had lots of appointments with speechies, OT’s and physio’s in the boys’ short lives.
We feel very fortunate that Harrison started Early Intervention almost immediately. There is such a small window of opportunity to help children with autism. You need to get them help as soon as you can. He is rather bright in certain areas and attends a main stream school. To us and many of his peers he is just like any regular 11 year old boy. He is active and healthy. The Autism Association has had a great impact with Harrison’s development and continues to support Harrison in his daily life. He has come a long way in the last few years. He is an amazing boy, so gentle, caring, funny and full of love. We are so proud of his achievements.
Jason and I feel so privileged to have had access and met the amazing Phillipa Lamont she has a beautiful nature and is such a pleasure to speak to whenever we have had contact. We are truly grateful for all her hard work in finding out information in regards to our family.
Dr Peter Rowe has been consulting our boys for a number of years, he has been very encouraging and caring with our boys’ needs. He has arranged many tests in Dr David Thorburn’s Laboratory to help us get to the bottom of Noahs disease.
Our family are strong advocates for the Mito Foundation and will continue to do so, and assist other families affected by mito as much as we can.