My name is Will and this is our family’s story

Our son, Will was born on 3 May 2011 via Caesarean, and straight away the doctors noticed he had tachypnoea or rapid breathing They thought he probably had fluid on his lungs due to his complicated birth but tests showed this wasn’t the case. Will was also having trouble feeding and struggling to gain weight, and then the doctor discovered he had a heart murmur.

After two weeks in our local hospital our doctor thought it best to transfer our little boy to Sydney Children’s Hospital. This was the beginning of a long and emotional journey for us all. Will spent the first six months of his life here, and the hospital soon became our new home.

Over the next six months Will endured countless tests and procedures – lumbar punctures, MRIs, blood tests, barium swallows and the insertion of a NG feeding tube – to name a few! Some of these were very painful and distressing for both Will and us. During this time, Will developed a movement disorder and the nystagmas in his eyes deteriorated so much that doctors thought he might be blind. He was extremely irritable, didn’t sleep, struggled to regulate his body temperature, sweated a lot and suffered reflux. It was becoming clear that he had developmental delay.

By now we had seen every specialist in the hospital – a pediatrician, cardiologist, neurologist, respiratory, ENT, gastro, genetic and metabolic specialists, an ophthalmologist, audiologist, oncologist, speech therapist, dietitian and physiotherapist. We had had many possible diagnoses but no definite answer.

My husband and I struggled to bond with Will; he could easily go 24 hours with out sleep and screamed constantly. We were totally sleep deprived, and felt horrendous guilt that we couldn’t bond with our child.

At eight months Will was to be fitted with a gastrostomy feeding tube, and the metabolic specialist recommended that Will have a liver, muscle and skin biopsy at the same time. I asked what he would be looking for with these biopsies and was told mitochondrial disease. By now Google was my best friend! I googled mitochondrial disease, and once I saw how devastating it was, I decided not to research it any more until the results came back. I didn’t want to upset myself until we knew for sure.

We waited months for the biopsy results to come back and in June 2012 the Genetics Department at Sydney Children’s Hospital asked us to come in for an appointment. This was the first time Jeff, my husband, did not come to one of Will’s appointments. Until now he had always taken time off work but all previous test results had come back negative so we were not concerned. We just figured that these test results would be negative as well. This could not have been further from the truth! I knew something was not right from the moment I walked into the doctor’s rooms.

The metabolic specialist and the genetic counselor were there, and the first question they asked me was “where is your husband? Is he coming today?” The doctor pulled out some paper work and said, “I have some news. Will’s muscle biopsy is showing he has a Complex IV deficiency”. This was the only appointment that Jeff missed, and it was the worst time of my life sitting there alone listing to this devastating news.

This has been a long and hard road for us. We have lost many family and friends because I think hearing about Will and his condition makes them feel uncomfortable. It’s not that they don’t care. I should also say that we have made many new and wonderful friends, that we would have never met, if it were not for Will and this journey. We are still grieving for the son we imagined in our dreams. The son that would walk, talk, play sports, and the son that would spend time with his dad in his workshop making things together. I also grieve for the career I gave up to become Will’s full time carer and for the life we gave up. We had to sell our home and move further away from family and friends because we just could not afford to stay living where we were.

Will is now two years old; he is a thriving and very determined little boy who continues to strive and make gains all the time. His will to survive and live is impressive and inspiring. He has already exceeded the doctors’ expectations, and I know in my heart he will continue to do so. He still struggles to cope in the hot weather, the tachypnoea is still present, he has significant disability and Global Development Delay, and is receiving all meals through his gastrostomy tube. He still does not sleep well. Doctors are continuing to investigate his heart condition and he suffers terribly from reflux. On the positive side, his irritability has improved, and now we quite often get smiles and laughter that just make our hearts melt. I am pleased to say we have all bonded well with our beautiful little boy. The nystagmas in his eyes has improved greatly, and we now know he can see quite well. Thanks to Will’s hard work and a wonderful team of medical professionals that help with his development, I am extremely hopeful that one day he will walk and he will talk and he will eat.

We are like many families struggling to understand and waiting to find out exactly where this disease stems from. We are still going through the painfully long process of DNA genetic testing to find the gene associated with Will’s condition. I feel finding this will give me some peace and final acceptance, and also rule out our greatest fear that our beautiful little girl, Abby does not have the same devastating disease.

Our plan is to better educate ourselves about this awful disease so that we can provide for our son and be the best advocates we can for him. We want to give him the best possible quality of life filled with fun and laughter during the time we are blessed to have him here with us. Will’s gorgeous big sister, Abby loves and adores her little brother.
Michelle Robson
April 2014