Just prior to Louise and Mitchell getting married in May 2017 they were asked to meet with the neurology and respiratory teams in Edinburgh to discuss information relating to their young son, Leo.
Leo, who loves being around other children/ people, watching Paw Patrol, Blaze and The Monster Machines on TV and playing with cars, had experienced a traumatic birth requiring emergency admission to the Special Care Baby Unit to be given CPAP ventilation. It was noticed following admission that Leo’s muscles, most obviously his neck muscles, were weak. Leo was discharged after 11 days in SCBU and close monitoring of his condition was then done through community paediatrics.
Leo appeared to be doing well until he was 11 months old when he took ill with respiratory tract infections, resulting in Leo being intubated and flown down to Edinburgh for treatment. This went on for four months, with four episodes of intubation and three trips back and forth to Edinburgh from Inverness.
During the third month of Leo being in the hospital, it was noticed that Leo may have been aspirating and gastrostomy and fundoplication surgery took place.
It was during Leo’s first stay in ITU in Edinburgh, following a failed extubation, that Leo’s diagnosis was looked in to further and Louise and Mitchell we were introduced to the neurology team. The team undertook an EMG test on Leo which highlighted a problem with Leo’s neuromuscular junction and led the neurologist to believe that Leo had Congenital Myasthenia Syndrome. However, following genetic testing in Oxford for all genes connected to CMS, it was soon realised that this was not the condition that Leo had.
It was at the meeting in May that Louise and Mitchell were told that Leo’s FKRP gene had shown two variations, meaning that Leo was diagnosed as having Congenital Muscular Dystrophy Type 1C.
Louise and Mitchell’s feelings at the time were very mixed, but firmly had the attitude that they would just need to take each day as it came. What they had been told didn’t change Leo or the way they felt about him.
Family Fund Leo’s Pride was set up by Louise and Mitchell to help raise awareness and vital funds to support the work of Muscular Dystrophy UK into Congenital Muscular Dystrophy.
Leo sadly passed away in June 2019 at just four years of age. Leo touched many hearts and left a big impression to those who knew him. In celebration of his life, Leo’s Pride will continue to help raise awareness and vital donations so that Leo’s legacy can continue in helping make every day count for those with congenital muscular dystrophy.
How you can help:
Setting up a family fund like Leo’s Pride is a great way to fundraise for Muscular Dystrophy UK to keep our vital research moving forward. Find out more about our family funds.