Meet Oscar and Theo…

“We had concerns that something wasn’t quite right with Oscar when he was just a few days old. He would have the shakes and eye wobbles, but being new parents we weren’t sure if this was normal in a new born baby and the doctors reassured us it was. As he got older though we continued to feel that something wasn’t quite right, he wasn’t hitting the same milestones as other babies of the same age and always seemed so unsteady.”

Eventually Oscar was referred to a neurologist at Birmingham Children’s Hospital and after numerous scans and tests, in November 2020 their lives were changed forever when they received the devastating news that he had Pelizeaus-Mertzbacher Disease (PMD), a rare condition that affects around 1 in 900,000 children in the UK, primarily boys. Symptoms include muscle stiffness, Nystagmus (a vision condition), Ataxia (which affects co-ordination, balance and speech) and Hypotonia which affects muscle tone.

Adding to the family’s heartbreak, when the couple received Oscar’s diagnosis, Oscar’s Mum, Cortney was already pregnant with their second child. Cortney and her husband, Stuart, went through extensive full genome DNA testing and the unborn baby was tested in utero at around 15 weeks. The results showed that the baby, another boy, also had PMD.

“It was hard enough dealing with one diagnosis but then being pregnant and worrying if the baby had the same condition was overwhelming. We decided to continue with the pregnancy as we wanted Oscar to have a little brother, someone to play with, love, hold, and make memories with. Baby Theo was born in June 2021.”

The family have been supported by Dougie Mac’s children’s services since December 2021 after a family friend, who also uses the hospice, suggested it to them.

“We really weren’t sure what to expect but we were put at ease when one of the Care Team, Jo, came to our home to show us photographs and explain the service and what was available. Since then we’ve enjoyed sensory sessions, support groups, vouchers for days out, family days and men’s counselling sessions. We’ve visited the hospice a few times now and everyone is so understanding, supportive and nurturing.”

Theo has recently also started to attend Play as Therapy sessions at the hospice, which are funded by Children in Need.  Cortney adds, “Theo has loved exploring the different sensory activities during the sessions, especially the lights and music. He also loves messy play so the sessions have given me some great ideas about things I can try at home with both boys.”

Stuart has also found great support from the Men’s Group, where he’s been able to meet other Dads in a similar situation to himself. There’s very little mental health support out there for Dads like Stuart, there’s no opportunity for them to speak out. After the first Men’s Group meeting he said it was the hardest two hours of his life, but he felt like a huge weight had been lifted. He’d been able to share his feelings and thoughts with other Dads who understood him. He’s been like a different person since that meeting.”

Oscar and Theo have been given a prognosis of around the age of 10. The disease is progressive over a period of time and gradually gets worse over a course of deterioration before they pass away. 

“We never want to think the worst but unfortunately our minds are constantly worrying about when a deterioration may happen and what that may look like. We are absolutely terrified about the outcomes, it’s hard to accept and we don’t want to believe the truth of this outcome so we focus on making as many memories and enjoy every day to its fullest as we never know what the next day will bring.”