This is our beautiful blue eyed boy, Órán, the sunshine in our lives. Órán Kevin Nibbs was born on the 22nd April 2009. He is the youngest of our three children. By all appearances he was a healthy and happy baby.
As time went on however we began to notice that Órán seemed to be quite limp as he tried to sit up or hold up his head unaided. As the months went by Órán failed to reach some of his pediatric milestones so, together with the community pediatric nurse he was seen by doctors at Letterkenny General Hospital.
In March of 2010 he was admitted to Children's University Hospital, Temple Street, Dublin for what the doctors called “global development delay with persistent hypotonia and muscle weakness”. What this meant was that Óran was very weak, he had very little to no muscle tone and could not play as other children his age would do. Unfortunately this was not the only issue for our little boy and it was to be the first of many visits to Temple Street Children’s Hospital. At the same time he was suffering from choking episodes, especially when he was being fed. There were teams of doctors taking care of him and at the time and he had to undergo a lot of tests in the hospital. From ECG’s to muscle biopsy our wee man had more tests than most adults do in a lifetime.
The medical team in Temple Street Hospital said they had to adopt a wait-and-see approach because some symptoms of certain disorders are so similar to many other diseases at different ages and so we waited.
Every parent’s worst nightmare began on the 13th and 14th of October 2011 when Órán went into cardiac arrest in the kitchen. We had to give him mouth to mouth and CPR until the ambulance could reach our house. He had turned blue and was unresponsive by the time they did arrive and rushed him into A&E in Letterkenny General Hospital. Things went from bad to worse when he his condition deteriorated rapidly after suffering a number of severe seizures. He had to be ventilated and he was rushed to ICU in Temple Street Children’s Hospital in Dublin by ambulance. It was a harrowing time for the whole family and not one of us can even imagine what Órán was going through because he couldn’t tell us and we couldn’t tell him why it he hurts so much or why his body was not working properly.
A battery of tests were conducted in Temple Street he and was diagnosed with Tonic Clonic Seizures which is the most severe form of Epileptic activity. During this type of seizure, Órán turns blue almost immediately, his breathing stops and he goes into a state of unconsciousness. In discussions with both the Neurology and Metabolic Teams, it was stated that Temple Street Hospital were unable to diagnose Órán’s condition despite extensive and invasive testing over a period of almost 20 months.
Great Ormand Street
It was decided at this time (the 21st of October 2011) that Órán be referred to Great Ormond Street Hospital for Children in London as a matter of urgency. After further unnecessary delays by the HSE Órán was eventually sent to Great Ormond Street Children’s Hospital in London in March 2012 and it was after another week of testing there that he was finally and conclusively diagnosed with Mitochondrial Disease, multiple complex deficiency. When we eventually received the devastating diagnosis, in Great Ormond Street Children's Hospital it may sound strange but despite receiving the news that our child was suffering with a severe form of this disease we almost felt a sense of relief as the not knowing what was wrong with our son was almost too much to bear. The life expectancy for children with this condition is extremely limited particularly for those who do not have the mild form of this disease, as is Órán's case. Indeed his prognosis is a very poor one and he is already living on borrowed time according to the experts. To face the prospect of outliving your own child is not normal, and not something that we ever expected to face, having had what we thought was essentially a normal child at full term who did not require neo-natal intervention of any sort.
Due to the progressive nature of Mitochondrial Disease, time has not been kind to our little boy. Órán is now unable to sit unsupported, cannot walk, talk, or feed himself. He is fed through a gastrostomy tube, has global hypotonia, hypermobility, developmental delay, gastroesophageal reflux disease, multiple chronic drug resistant seizures on a daily basis and has struggled to maintain a healthy body weight. He must take a vast number of medications, several times each day to try to control some of these symptoms. We are struggling to manage Órán at home because of the high burden of his disability and the multiple seizures he has been having since he was critically ill. We now have to bring portable oxygen, suction machine and emergency seizure medication with us at all times due to the high risk of his seizures. As a result of all these complications, Órán requires 24/7 care and has had to attend occupational therapy, physiotherapy, speech and language therapy, feeding clinics, orthotics clinic, psychology on a weekly basis (aside from his regular appointments with the Paediatric Dept. in Letterkenny General Hospital and appointments in both the Neurology Dept. and the Metabolic Dept. in Temple Street Hospital in Dublin) all the while we have to try to maintain a normal family life with our other two children.
Having a child with Mitochondrial Disease means our son Oran’s life is very unpredictable. Lack of sleep, infection, change in body weight or any number of other environmental changes can cause an increase in his number of seizures or a rapid spiralling of the progression of his Mitochondrial Disease.
We are acutely aware that each new symptom Órán presents with, is in fact an indicator of a progression of this savage disease which means that Órán is running a race against the clock of life. The little things that seem so trivial to other parents, are diminishing one by one in what can only be described as the longest and most torturous goodbye leaving us with a shell of the child who was our son. Yet despite all these problems, he is a very happy, contented sociable little boy who can light up the room with his presence and brings so much love and laughter to our lives. For all his slight frame, he has a courage beyond anything we could ever endure and despite never being able to utter a single word, he communicates by teaching us lessons in life, love and the importance of being each and every day.
At the age of just six years old, our beautiful boy, Oran, has been given a death sentence and whilst it is not within our power to alter what he will have to face in the near future, we will have failed him in our duty as his parents, if we do not try our utmost to try to change the present plight that he, and all children with Mitochondrial Disease endure every single day. There is no fairy-tale Disney ending to Oran’s story and that of so many Mito children, but there is the opportunity to provide hope. Hope for parents, like us, who feel that there is a huge lack of awareness of this deadly disease in both the medical profession and the general public and a blatant lack of medical support. We can be create that hope, by continuing to fight to create awareness of this deadly disease and campaigning for more in-depth medical research into a disease which is now more prevalent than all childhood cancers combined.