Gary - Interview 17

Age at interview: 53

Age at diagnosis: 35

Brief Outline:

Gary was diagnosed with Gaucher's disease 18 years ago, which was further complicated with a diagnosis of diabetes around the same time. He has since developed Parkinson's disease symptoms as a consequence the Gaucher's disease.

Background:

Gary is married with one daughter and is an entertainer. Ethnic background/nationality: White British

More about me...

Gary, an entertainer, was diagnosed with Gaucher’s disease eighteen years ago, aged 35, after experiencing prolonged bleeding episodes when shaving. Around the same time he was also diagnosed with diabetes. Gary was taught to self cannulate at home. After a few years his veins collapsed and a new drug, Miglustat, was prescribed. He started on 1 Miglustat PD for two weeks then 2 Miglustat. When he got to 3, Gary collapsed into a diabetic coma and the doctors realised that the new drug had an effect on sugar levels. Gary cut down on his insulin, had a complete break from the drug for three weeks and then had a controlled return to 3 Miglustat a day until tests revealed that the drug was damaging his kidneys. He now takes 1 Miglustat a day.

 

During a routine check for his Gaucher’s, the consultant noticed Gary’s arm twitching and referred him for a series of neurological checks. These checks revealed that the Gaucher’s cells had mutated to his brain and were causing Parkinson’s disease type symptoms.

 

Gary feels the Parkinson’s is moving faster than he anticipated and despite the drugs, he experiences a lot of cramps and pain which can make moving around and sleeping difficult. He is no longer able to do things like play the guitar or walk very far but takes the approach that he will try to find new things to do to make up for this. He feels frustrated that he is a burden on his wife and would like to be able to do more himself. 

Gary talks about the way in which Gaucher disease is passed on.

You can only develop it if you have both, you have to have both, both the, the chromosomes or whatever it is. You have to have both one from the father and one from the mother. So there’s only, it’s not guaranteed that even if, even if you marry, even if both parents are carriers there’s no guarantee that the child will get the disease, because you could get the other side, and you could get nothing and nothing. Or you could get a diseased one and a non diseased one and that would be a carrier. So there’s no guarantee. The only guarantee of the child having the disease is if both parents actually have the disease. Other than that there is no a guarantee. But obviously the greater, you know, if you have the person who has the disease and a carrier, then you don’t have much chance of not getting it.  

Gary describes how he "feels a burden" to his wife because he has had to give up work.

But, you know, I can’t say that it isn’t difficult, because it is difficult. I hate being a burden and I feel that I am a burden because [name] has to do so much for me, and does it so selflessly that you know, I just, I hate it, I do, and I wish that I could do more to, you know, to be more of a partnership. I wish that I could, you know, I wish that I could work some more. But I, I’ve got a part time job, but it hasn’t really worked out. I’m about to go out to tribunal for… but then again it’s for disability discrimination. But I’m not sure that I can work. I’ve tried working just part time, although it was 30 hours a week, so it was quite a lot. But I want to do more. I want… maybe it was the wrong job. I don’t know. But I’m not going to give up. I want to, I want to do something.

Gary lives 60 miles from the hospital. They will try to arrange all of his appointments for the...

And they’re very good the hospital, because I’m sixty odd miles away they, when I go up there I go for a whole day and they, if I’ve got to have any tests or anything they arrange that for the morning and then if I’m seeing more than one doctor, then they arrange that for the same day. So I see, I usually see two doctors and I might have an MRI scan or something, all on the same day, so that I don’t have to keep coming backwards and forwards. So they’re very good. And sometimes if they have to make me a very early appointment they have a place up there where people can sleep over night and they let me stay. So, they are excellent. Very, very pleased to be a patient there.

Gary can see how Gaucher's disease became a 'Jewish condition' because of intermarriage.

I was given some, some information to read but it was quite scanty at that stage, and I looked up on the internet but the internet was fairly new at that time. So there wasn’t much to read, but I can’t remember how it came about. Yes. Somebody at the girls’ dancing school, either knew or knew of [professor], who was the head honcho of Gaucher disease. So I wrote to him and said that I’d just been diagnosed with this disease, can you tell me more about it. And he sent me loads of stuff. So that’s how I learnt more about what it was. What it could do if it wasn’t treated, and all that stuff, and why they called it the Jewish disease in the beginning although now they’ve found that in fact its, its not so. That at first they thought it was not confined to Jewish people but it was largely, they originally it was due to inter-marriage of, of Jewish people that was causing the problem. But that was quite interesting.

 

How did you feel about that?

 

How did I feel about?

 

When you read that, about it being a Jewish disease at that point?

 

Well it, to be honest, it made sense to me, because if you go back to the early nineteen hundreds, Jewish people tended to live in very small communities and they, they tended to when they got married, they tended to marry certainly within the faith and usually it was cousins getting married. I mean they didn’t tend to marry brothers and sisters. But certain cousins were marrying each other and so there was that level of intermarriage that could have caused a problem. I mean we know if, if it is a known scientific thing that if members of the same family marry, there is a risk of difficulties in further generations. So, you know, it seemed logical to me, that if, if those people, the Jewish people from the year 1900s were inter-marrying than this could quite easily come from there. So I didn’t have any problem with it. It seemed quite logical. 

After 2-3 years of taking Ceradase, Gary started taking Miglustat which caused a diabetic coma....

And I initially I went to the hospital to have this drug, because it has to be canulated, injected into a vein, but they taught me how to, they taught me how to self canulate. And then I was able to do it at home on my own leisure. And I did that for about, well two or three years. But the pain in my legs, particularly my shins didn’t really get any better, and sometimes, I would wake up, I would wake up, and I would wake everybody else up in the house screaming in pain. Literally screaming out.

 

And then all my veins collapsed and I couldn’t, I couldn’t do cannulation, and the organisation who ran, who delivered the drugs had nurses who would come and do the, do the injection if you couldn’t do it. So I phoned up and I said, “Can I have the nurse please. I’m struggling.” And the nurse came down. I’ll never forget this ever. She, she tried ten times, five times in each arm to get this needle in so that the drug drip could go, and she couldn’t, she couldn’t do it. And she said to me, “I’m not going to try anymore because it’s just going to cause you unnecessary pain and you know, I just don’t think I can do it.” So I said, “Well look, you know, it’s just one of those things don’t worry.” And she said, “Okay.” And she went.

 

And then [name] my wife noticed she’d left her box of tissues, so she ran out to try and catch her, and this poor nurse was sitting in her car sobbing because she hadn’t been able to do it. But in the mean time they developed an oral drug. And so, again, only on a named patient basis. And this was very, very new. Just come into, what’s it, to use, and had only just been licensed. 

 

So because of the because of the vein problem I got permission, or [hospital] got permission for me to be given it, and I had to take one a day for a week, then two a day, and then three was the top. 

 

When I got it, I did one or two and then I took three for two days, and I collapsed into a diabetic coma and my blood count was 1.9 and it turned out that nobody knew that this drug, this new drug had a huge effect on sugar levels. And nobody knew that because I was the, I was the, as far as I know, I still am, but I was certainly the first person to have the combination of diabetes and Gaucher’s. So nobody knew that there would be an interaction with the insulin and the Miglustat – the new drug.

 

And so I was merely taking three Miglustat and carrying on with the levels of insulin that I was taking and I was effectively, I was, I was overloading myself with sugar reducing drugs. So I came off the Miglustat for a while. And then I cut down on the insulin and I in fact cut down the insulin by 65%. And then I went back on the Miglustat and then I was fine. I was all right. Until I got a letter from [hospital] saying, “Stop taking three Miglustat and reduce it to one immediately because we have results of some blood tests that we took last time which show that your kidneys are failing, and this is the result of the Miglustat. So you must no longer take three, you can only take one.”

 

While Gary is unable to do some of the things he used to enjoy doing, he has taken the attitude...

In terms of sort of general life it’s okay really, you know, I mean there are a number of things that I can’t do any more that I used to do, but I just take those as, you know, I knew that was going to happen. I mean, I used to do a lot of amateur dramatics, but I don’t do that anymore, because there’s certain, there’s no real. I used to do musicals mainly and there’s no possibility of me dancing now. So I can’t do that. 

 

And my memory is going. Although they say that my memory, the last time they tested my memory it was okay. But I mean I used to be able to get up and debate with people and remember all the words I wanted to say, and yet, now, often I forget a particular word, like dyspraxia. I couldn’t remember that. And the other thing I’ve noticed is that when I’m driving, if I drove to somewhere for the first time I would know the route after that. I would never have a problem going there again. Now, even if I’ve been that way three or four times I still can’t remember it. So … you know, that is a problem there.

 

But, so I can’t do that, and I used to play the guitar but I can’t move my fingers fast enough anymore. But apart from that, I don’t think I’m particularly restricted. I can’t walk very far. But I get I get motability allowance. So I basically I think you’ve got two ways of looking at it. You can either say okay, I’ve got all this stuff and I’m just going to sit in a chair and the world owes me now. I’m solely, you know, the world sort me out. And, and I’ll just wait for the end. Or you can say, I’m not going to let it get me. I’m going to go out there and I’m going to do everything that I can do and when I can’t do it, I’ll find something else that I can do to replace it. And that’s the view I try to take. 

 

Miglustat to treat Gaucher disease interacted with Gary's diabetes and affected his sugar levels.

So because of the, because of the vein problem I got permission, or [hospital] got permission for me to be given Miglustat, and I had to take one a day for a week, then two a day, and then three was the top. When I got to, I did one or two and then I took three for two days, and I collapsed into a diabetic coma and my blood count was 1.9 and it turned out that nobody knew that this drug, this new drug had a huge effect on sugar levels. And nobody knew that because I was the, I was the, as far as I know, I still am, but I was certainly the first person to have the combination of diabetes and Gaucher’s. So nobody knew that there would be an inter-reaction with the insulin and the Miglustat – the new drug.

 

And so I was merely taking three Miglustat and carrying on with the levels of insulin that I was taking and I was effectively, I was, I was overloading myself with sugar reducing drugs. So I came off the Miglustat for a while. And then I cut down on the insulin and I in fact cut down the insulin by 65%. And then I went back on the Miglustat and then I was fine. I was all right. Until I got a letter from [hospital] saying, “Stop taking three Miglustat and reduce it to one immediately because we have results of some blood tests that we took last time which show that your kidneys are failing, and this is the result of the Miglustat. So you must no longer take three, you can only take one.”