Leo was born on 9th July, 2018 on a cold winters morning in Dunedin, New Zealand. He was a full term, healthy baby boy after a normal pregnancy. Sadly at 20 hours old there was something wrong and he began to show tachypnea (rapid breathing) and low blood sugar. He was admitted to the Neonatal ward where he underwent lots of tests. When he was a day old we were told he had a metabolic condition that he would have for the rest of his life and that there would be no cure for it. It was a very scary time for us during his first few days as he had abnormal blood levels and we were getting transferred to starship hospital in Auckland because the Doctors didn’t know if he was going to survive. Luckily Leo pulled through and his bloods stabilised. He had many metabolic tests and genetic tests to try and figure out what metabolic condition he had. At 8 weeks old he was diagnosed with mitochondrial disease and the specific type he has was called megdel syndrome. (It is very similar to Leigh’s syndrome). We were absolutely devastated as we had to try and make sense of this condition and what this meant for Leo and his future.
Luckily Leo developed normally during his first year and he continued to amaze us as he achieved his milestones. He was a very social boy who adored his big sister, family, and friends. Sadly though we had to be watchful of the symptoms that could emerge and he had many check ups and tests. We tried to kid ourselves and think that our boy was going to grow up as a healthy normal boy, but we held on to hope for him! He showed a mild hearing loss in both ears at 3 months but continued to develop normally. He got his first hearing aids just after he turned 1 and these worked well for him.
It was when he got to age 1 when we really started to notice the symptoms of the disease show. He got sick with normal colds and flu and he had less energy. He suffered a major regression and the hardest thing was watching our boy lose the skills that he had developed as he became weaker. Leo never learnt to speak but communicated with us in his own way making babbling sounds and through his smiles and wonderful laugh. He was also great at letting us know right from the beginning if he was hungry or unsettled. He achieved the milestone of sitting for a very short time and was able and move himself around by rolling and pushing himself forward. He loved exploring things. He was very close to crawling! Sadly he developed hypotonia (low muscle tone) followed by dystonia and spasticity. It became a real challenge to him. He also lost his ability to eat orally (although he never really took off with solids but loved his milk). He had an NG tube placed for feeding and soon a peg tube into his stomach. This was a life saver! Leo’s biggest asset was his eyes. He lived so much of his life through them and watched other children do things around him (as though he was doing it). They became his main tool of communication when he had lost all his other abilities. He also had a strong heart.
His disease progressed very quickly during his last 6 months. His hearing loss had become moderate to severe in both ears. His dystonia and spasticity progressed and they became difficult to manage. He was on many medications several times a day to try and manage his symptoms. We worked closely with his paediatric team and specialists and hospital became a second home to us. Sadly Leo went into respiratory failure and passed away in our arms in hospital when he was 2 years and 3 months of age.
We are incredibly grateful for the massive medical team, our family, and friends for the love and support they had given us during our little boy’s journey. We couldn’t have done this without them!
Leo’s legacy lives on. He had his determination and fight to the very end like the brave and courageous lion that he was 🦁. He lives on in us and we hold him in our hearts forever 💚
We have that same hope, determination, and strength for other children and families affected by mitochondrial disease. Every child is unique and will tell their own amazing story. We continue to raise awareness for this devastating disease and the hope that there will one day be an effective treatment for it. Honouring all the beautiful mito warriors and princesses that have lost their lives because of this disease. We won’t let the power go out 💚🦁💚