Children with Alpha-1

Children with Alpha-1

Some children with alpha-1 antitrypsin deficiency have damaged livers.  The treatment for this condition is highly specialised and there are excellent liver treatment centres for these children.  If you have any concerns about your child then seek medical advice.

Sometimes Alpha children have breathing difficulties but these are usually related to other lung diseases and treatments are also available for these.  (Replacement therapy is not indicated for these children’s lung complaints.)

We have a booklet for parents of Alpha children as well as 3 booklets for children themselves.  To download digital versions of these booklets click here to go to our booklets page.






Bobby’s Story

Three years ago Bobby lost his father to alpha-1 antitrypsin deficiency. He is now 6 and this is his story as he remembers what happened to his father.

My daddy died when I was 3 years old. I remember him really well from our home in Ashby-de-la-Zouch. I remember playing with him and him telling me things that were really interesting. It makes me sad that he is not here anymore to enjoy stuff with me, mummy and Ted. He didn’t see me in my uniform when I started school or know that Ted (that’s my little brother) likes playing football and that he’s at school now too!

My mummy told me that when daddy was born a long, long time ago (way before I was born) that he was really ill. He was all yellow and very tiny. He spent three months in hospital (that’s a lot of sleeps) before he could go home to be with his mummy and daddy (that’s Grandma Christine and Grandad John). Mummy says the doctors never knew why daddy was so poorly and he just got better. Well, when I was born mummy says that daddy started to get ill again.

When I was 9 months old (that’s means I was only 0!) the doctors told daddy he had an illness called Alpha-1 Antitrypsin Deficiency. They are very big words and I don’t understand the illness but it’s got something to do with your liver and lungs. I know they are important parts of your body because my teacher told me at school.

I don’t really remember daddy being ill but I do know he spent a lot of time in bed. Mummy used to tell me to be quiet and let daddy sleep and we’d (that’s me and Ted) would climb into the double buggy and mummy would push us to the park. Sometimes we’d have a fight…and once Ted fell out because mummy forgot to strap him in!

Mummy said that after Ted was born daddy started to get really, really poorly and have seizures. I don’t understand this either but I do know it meant that daddy couldn’t control his body and he had to go to hospital. There was one time we were shopping and daddy had one of these things. It took ages for the ambulance to arrive because mummy couldn’t find anybody to tell because she had to look after me and Ted. Then I wanted a wee so she had to ask somebody to look after Ted and daddy whilst she took me! I was in McDonalds. When I came back from the toilet a nice man was playing a game with Ted so I joined in and then the ambulance came, put daddy on a bed thing with wheels and into the ambulance. I remember another time when an ambulance was at our house when I got back from nursery and daddy had a mask on his mouth to help him breathe and he was covered in bruises. Mummy said he’d had one of his seizures in the garden and hurt himself.

I remember going to stay in a caravan with mummy, daddy and Ted. This was in Charmouth by the sea. This was the last holiday I had with daddy. It was really fun. One night mummy got me out of bed because there was a fantastic rainbow. Daddy couldn’t walk very far on this holiday so we would do lots of cuddling and sat down a lot.

When we came home again I remember daddy was in bed a lot. Then Grandma and Gran came to stay a lot and mummy kept going out. Daddy wasn’t there. He was in hospital and mummy went everyday to visit him. Mummy cried a lot and I didn’t really understand why. One day Ted and me went to visit daddy. When I saw him I was very happy but then I was a bit scared. There were lots of machines and wires and I didn’t want to go up to daddy. Ted did. He lay down next to daddy and daddy cuddled him. Daddy held my hand but I didn’t want to. We then went home with Grandma.

Daddy didn’t come home. Mummy said he was too poorly and his body stopped working. I miss him so much. I like to drink lemon juice because I know it was one of daddy’s favourites. People say I look like daddy and I’m silly like him – I like it when people say this as it makes me proud. I feel sorry for Ted because he was only a baby when daddy died so he can’t really remember him – he says he does but I don’t believe him. He asks for a new daddy a lot. I once asked mummy if I could go to heaven to see daddy but I don’t think you can do that. We have lots of photos that we look at often with mummy and we all love doing that.

Mummy told me that not many people know about daddy’s illness. She says that babies are still being born today that are poorly and they might have daddy’s disease but that not enough people know about it. Mummy told me as well that when daddy was poorly he was looked after by lots of different doctors who were all very confused and didn’t know what medicine to give him. If more people knew about daddy’s illness then he might have got the right medicine. Then he might have seen me start school.

Mummy says that daddy was amazing. She told me that even though he was so poorly he never did any moaning and was a nice daddy and friend to my mummy. Mummy still cries a lot. I try and do what my daddy would have done and make her feel happy again and help with jobs in the house.

We all miss daddy. I don’t want anymore babies to suffer or boys or girls to be sad if their daddy dies. It would make me happy if we all knew more about daddy’s illness.




Claire’s Story

This a story about Claire and her sister. We hope that Claire’s words will give courage and hope to parents of Alpha1 children.

I was first diagnosed with alpha1 antitrypsin deficiency (AATD) when I was 6 years old. My sister had been extremely ill from birth with liver problems and was finally recognised as having AATD at 2 years old. The rest of my family were tested and it was discovered that my brother was unaffected but that I had the same genes as my sister (PiZZ).

My parents were advised that I should not smoke, drink or take drugs (not difficult at 6) but that otherwise I would be OK. I’m not sure how much information was given and how much they took in as my sister had developed liver cirrhosis and was terminally ill.

She was kept alive by a cocktail of steroids and a high-protein low-salt diet against the odds until she was 8 years old. At 8, she received a liver transplant just in the nick of time, and although the next 18 months was touch and go she survived.

I kept in good lung health throughout my childhood, with only occasional infections. As I hit my teens the embargo on alcohol and drugs got more and more irritating, but looking back this was probably not a bad thing! At 18 I went to University to study biology. I had a fantastic time but soon broke all the rules about alcohol resulting in one brief hospitalisation for alcohol poisoning. To be honest I wasn’t the only one with that dubious honour and I think it probably had more to do with my poor diet, late nights and low weight than anything else. I had been raised to be excruciatingly clear about the dangers of smoking for someone with AAT, so I religiously abstained from smoking and any other drugs, and I think that was absolutely that right think to do.

After about 8 months my curiosity got the better of me and I pulled up some research papers about AAT from the library. The reported outcomes were bleak and I remember being shocked and quite upset at the depressing future awaiting me; emphysema by my thirties and other complications.

One winter I got a chest infection as so many bugs were going around the halls at that time. I spoke to the university health centre about having AAT and they referred me to a chest consultant for investigations. So it was at 19 that I learned that AATD has a very variable course and that female non-smokers can have a very good prognosis. My X-ray was clear so I pretty much forgot about my alpha1 for the next 10 years.

I’m 32 now and have no major problems with my liver or my lungs. I have always done some form of exercise and I avoid fumes, pollution, cigarette smoking and the usual suspects. After recently meeting lots of other people with AATD at the Scottish Patients Alpha1 meeting, I feel that my knowledge on the subject has improved in leaps and bounds. I am hopeful for the future, as both my sister and I lead pretty normal lives despite being PiZZ.