Freddie was born a week early; I had a normal delivery and a normal birth. At three weeks old he had viral meningitis but not a severe strain, which left him in hospital for about a week. After that he wasn’t very well really and had lots of bronchiolitis and just had a really poorly six months.
Then it became apparent that all his milestones were very delayed; everything from smiling, walking, sitting - all of them were significantly delayed and we started getting help from outside organisations.
From age two and a half, literally overnight, he started showing traits of autism. He lost all his words and became very distant; it was almost as if he was in a bubble. It was like losing your child’s personality overnight. He had a big regression socially and verbally. We got speech and language therapists and physios involved but they weren’t sure that it was autism.
Doctors started doing genetic tests to find out what the reason for his developmental delay was. There were lots of investigations and then at about age 4 they said ‘we think he’s got a rare metabolic condition called Mucolipidosis Type III (ML3)’ which is a very rare lysosomal storage disease and is progressive. It’s a bone and joint disease and there’s no cure for it. Not many people in England have been diagnosed with it at all, maybe 5 or 6. However, they said that wasn’t likely to be the reason for his developmental delay so there must be something else going on that they hadn’t found yet.
He started having periods of fainting and low blood sugars and was diagnosed with ketotic hyperglycemia, which is another metabolic condition, which seemed to be unrelated.
It was Great Ormand Street who diagnosed Freddie as severely autistic at age 5. Then at age 6, out of the blue, he had a very big tonic-clonic seizure on New Year’s Eve, which was an hour long and we couldn’t stop it. He was taken by ambulance to hospital where the consultant had to inject straight into his bone marrow. It was horrible. And he didn’t wake up for 48 hours. We didn’t know what was going on, or if he would wake up.
He stayed in for hospital 12 days and had another two seizures. They started him on medication, but it was difficult to give him anything orally, so he was given epilepsy medication by suppository. He started to have seizures monthly thereon, so was given additional epilepsy drugs. However, his seizures continued to worsen - they could be anything from 20-mins to two and half hours. Three times he went into intensive care because we had tried all the emergency meds but we just couldn’t stop them. They tried everything to stop the seizures but couldn’t so eventually they had to shut the body down and put him into a self-induced coma.
We adjusted his medication again but they all had side effects. It got to the point where I was crushing 14 tablets a day into his food and it was so hit and miss. Sometimes he just didn’t eat all his food so wouldn’t be taking on all the meds. Freddie continued to have seizures and I was always on high alert. Eventually it was suggested he have a PEG fitted, which I was hesitant about because he’s so hyperactive and into everything, I didn’t think he’d cope with it. This year we’ve had it converted to a Button and it’s been a Godsend. We can get all the drugs down him. He’s now nil by mouth by fluids, which is part of the ML3. And he’s not had a big seizure for over a year.
Freddie has mild carpal tunnel in one wrist, and he’s lost his swallow for fluids because of the ML3. But he has regular x-rays and we think the next thing to go will be his hips, then his knees, back and his joints. He will need several operations which I think he will cope with, it’s just the recuperation I’m not sure about because he likes to be so active and doesn’t like to sit still.
Developmentally he’s about 14 months old so he doesn’t understand what’s happening. He gets very frustrated and I don’t know if he’s in pain, or it’s because of his restricted communication. On the whole though he’s a very happy chap but if he sits and sobs, we have no idea what it is he’s upset about.
Freddie is dire at night! He averages about 5 hours. He’s usually up from about half past two in the morning and then feels tired when it’s time to go to school. He’s very difficult to take out in public as he’s very erratic. He can let off ear-piercing shrieks and is very socially inappropriate. This impacts his brother, Joseph. Joseph used to be very upset and resentful that he had a disabled sibling. He just wanted to have a little brother who would follow him around and who he could play Lego with. Instead, Freddie might pull his hair or bite him when Joe wanted to give him a cuddle. Now I think he worries about him because he’s seen so many big seizures and he’s had to help me with the medication or calling an ambulance. He’s witnessed a lot, which I would have preferred him not to see really. I think now he is fiercely protective over him.
Fours years ago when Freddie’s epilepsy was bad was when we were introduced to Charlton Farm. Joseph thought it was like a mini Center Parcs! I think a lot of people when they hear the word ‘hospice’ certainly don’t want to think about it, but it’s respite really. For most people it’s respite and having nurses there 24 hours a day and people who can help. When I say to my friends we’re going to the hospice, they ask ‘is everything alright’? But I say we’re going for some respite, some family time and chill time and we’re able to pass over the care of Freddie.
Although it’s nice to hand over the care of Freddie, I very rarely leave him alone at Charlton Farm. I like to stay as there are no distractions for me here. There’s no washing, no cooking, very little signal on my phone, no paperwork, no jobs to do. I can pick up a magazine, get in the bath, uninterrupted - and I just can’t do that at home. I can’t even have a shower at home unless I‘ve got someone to look after Freddie. I can’t leave him at all.
At the hospice, it’s my downtime and I don’t have to worry about meds or the times, or that Freddie is having water six times a day. And being able to go out with just Joseph and not have to take oxygen, emergency medications, the wheelchair - the whole entourage! Now my husband and I are separated we can both come and stay but we rotate the nights, which is good for Joe too as he gets one-to-one time with both of us; it’s a really nice arrangement.
To know Freddie is really well cared for is so reassuring. I know if the worst happened here, everyone would know what to do. Hospitals are a sterile environment that it’s lovely to know you can come here where it’s calm and peaceful and you’re so supported, it’s like having a big, comfortable warm blanket around you. People are here to help and hug; it’s wonderful.