"All tests indicated two healthy normal baby boys. But that was going to change."

By Tamara Robins

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

The boys where born 4 weeks early by caesarean section; two perfect little boys, all tests indicating two healthy normal baby boys. Ahh – what a sigh of relief.

But how all of that was going to change.

The boys where breastfeeding 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 8 and a half months and then walking at 9 and a half months. And his twin brother would still struggle to sit up.

Alarm bells were ringing in our ears, and we knew something was terribly wrong here. He can’t just be a late developer and he is not a lazy baby.

We had a consultation at the State Child Development Centre and they referred us to see a wonderful paediatrician, 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 Crocodile 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 a school with a conductive Education Programme, which 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.

Our dream is to of course find a cure for Mito. 
If not for today, be hopeful for the future.