Mito Sufferers and their stories:

Harrison’s and Noah’s Story

On the 12th March 2005 our twin boys Harrison and Noah came into our lives.

I had a wonderful pregnancy, of course there where some anxiety's about a twin delivery and the sleepless nights with what we thought were two future AFL players practising their kicking skills inside of me at night, but other than that it was as easy as a walk in the park.

The boys where born 4 weeks early by caesarean section at Mercy hospital. Two perfect little boys, all tests indicating to healthy normal baby boys. Ahh what a sigh of relief. But how all of that was going to change. The boys where breast feeding by day 4, 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 a very unsettled baby. Being first time parents with two newborns we just assumed that was what little babies were like. Harrison was a lot calmer and better at feeding.

Harrison was reaching his milestones incredibly quick where as 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 8and a half months and then walking at 9 and a half months. And his twin brother who would struggle to sit up.

"Alarm bells were ringing in our ears” 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 and she saw Noah frequently then referred us to see a wonderful paediatrician Dr Peter Rowe, who fortunately started the motions of arranging tests for Noah. These of course 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's Disease at 2 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 little boy. Of course he has many hurdles in front of him and is restricted; Noah can't walk independently and uses a Nimbo walking frame. He cruises furniture and gets from A to B by shuffling around on his bottom or crawling. He is a dare devil and will climb onto the most obscure places given the chance. He wants to be independent. Although needs some assistance with feeding and toileting. He has had so many tumbles and falls that we have lost count and each one hurts us more than him.. Noah uses a communication book called a PODD as he doesn't have any speech although he tries extremely hard and certainly gets his message across. He adores his brother Harrison and hugs and tackles his brother just like any normal siblings 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.
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 prey he will continue to do. He is a beautiful boy with an enormous amount of courage and determination. Yet as parents we are so frightened for his future.

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 still does. He would have meltdowns had poor social skills and barley noticed someone walking into a room. He was still happy loving and happy thank goodness. Even though we knew we were probably going to be told that Harrison had Autism it was still incredibly hard to hear it after the Assessment. Two boys with major health concerns. We have had lots of appointments with speechies.OT 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. Harrison is what we call High Functioning. He is rather bright in certain areas, very social and attends a main stream school. To us and many of his peers is just like any regular 5 year old boy. He is active and healthy he just has a little trouble every now and then with his sentence structure in conversations. The Autism Association has had a great impact with Harrison's development. He has come a long way in the last two years. He too is an amazing little boy, so gentle, caring, funny and full of love. We are so proud of his achievements.

Jason & 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 when ever 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 also, he has been very encouraging and caring with our boys needs. He to has arranged many tests in Dr David Thorburn's Laboratory to help us get to the bottom of Noahs disease.

"Our dream is to of course find a cure for Mito.

If not for today, be hopeful for the future."

Tamara & Jason Robins October 2010