Background 

Theo is two years old and lives in Lincolnshire with his mother, Kayleigh, and his grandmother, Sharon. “Theo has been diagnosed with Ohtahara syndrome which means his ARX gene (Aristaless Related Homeobox – a protein gene) has mutated.” 

 

Theo’s condition 

Kayleigh explains “Ohtahara syndrome causes uncontrollable epilepsy which is drug resistant. It’s really hard to control so he has seizures on a daily basis. It’s also caused brittle bones disease. He started having seizures when he was three days old. It first happened when he was in hospital and I was telling the midwife that something wasn’t quite right but they said it was just normal baby movements. After 12 hours they changed their minds and realised that he was having seizures.”  

“He spent a week in neonatal where they thought the seizures were under control but within two days of being at home, he had another one. We went back and forth to the hospital for a couple of weeks until he had a prolonged seizure which led to him being incubated in intensive care. We spent 12 weeks in hospital and during that time we got the diagnosis of his condition.” 

“When he was first born he would have 50 to 60 seizures a day but with medication, a ketogenic diet and a Vagus nerve stimulation we have got it down to two seizures on a good day. However when he is poorly they can increase to up to 17 seizures a day. The seizures can vary between a split second and ten minutes, but he is not treated for his seizures unless they last for 20 minutes, and if that happens then it’s normally caused by something underlying such as an infection.” 

“Theo is nonverbal. He has started to make noises and you can see through expressions on his face and body language how he’s feeling, so you learn to understand him. Theo has begun to use switches to communicate. He has a ‘yes’ and a ‘no’ switch which he can press if he’s in the right frame of mind. Hopefully later down the line we can extend it so he can use more communication aids.” 

  

How it affects family life 

“Theo’s favourite thing to do is to go out in the car. He loves driving! We have a cathedral near where we live and the area has cobbled roads, Theo likes to drive there so he gets the bouncing sensation. As a family we enjoy going out and spending time together. Theo’s diagnosis is classed as life limiting so we try to make the best of everyday. We are a very close family so we spend a lot of time with my sister, niece and nephew and try to do things as a family such as going to new places and exploring.”  

Kayleigh adds, “My mum helps me a lot and my friends are really supportive. I specifically enjoy the times we don’t have to do medication and can just sit on the sofa and have a cuddle. I have always had a positive outlook on life but as a parent to a child with a disability you learn to appreciate the smaller things more and to not take anything for granted.” 

 

How we helped 

“Family Fund helped me to get a car, which has been a lifeline, to go to hospital appointments, days out and to have enough room in the car for all of Theo’s medical equipment. They have been a godsend and we are so grateful. They have taken the pressure off having to worry about funding a car that is suitable for Theo. There is so much financial burden that comes with having a child that is medically complex, it takes a toll on you.

Theo’s family was granted a lease to a Ford Galaxy. “It means I can take Theo out with me. The car has a hoist in it for his wheelchair so I don’t have to fold it and faff around trying to get him in and out. We have to bring his feeding pump for food and water, and he has his oxygen, suction machine, SATs machine and his wheelchair, as well as all of his medication that he needs on a daily basis. It’s also beneficial to know that Theo has enough room in the back in case he has a seizure. It’s reassuring to know that he can’t hurt or damage himself in anyway.” 

Along with a car, Kayleigh received the support of staff from Family Fund, Motability, and the showroom, such as Fran:

“Fran has been amazing! She has taken all the stress away. If I have any worries then I can contact her and she sorts it for me, she has been fantastic. We are coming up to the three years of age which means we won’t have the Family Fund car anymore, I was worried about changing over to the Motability scheme but Fran has made it easy and is walking me through it all. She is going to help me look at a grant towards the deposit which is taking a massive stress off me.” 

“I can’t put into words how grateful we are for Family Fund taking that financial burden away.”