I wonder if you could just start off by telling me about the condition in your family and how it affects your family.
OK. The condition is called Severe Combined Immune Deficiency Syndrome. My daughter’s got it, or had it shall I say, and how it’s affected my family. My daughter was hospitalised from the age of about 5 months. She was originally at the local hospital for a short period of time and then transferred to a hospital up north and there she remained for a total of about two and a half years. I have obviously had to stop work and be with, because she was my first child and it was so far away, I just felt I couldn’t leave her on her own there and I did want to be involved in her care. And so I went with her while my husband stayed at home and carried on working and commuted at the weekends or mid-way during the week.
At what point did you find out that your daughter had this condition?
I think it was, to be quite honest with you, it was one of the first questions I did ask when I took her into the A and E for a second opinion after being to my GP because she just wasn’t behaving as a normal child her age would. And one of the first sentences on her notes are ‘Mum suspects child may have SCIDS’, which is Severe Combined Immune Deficiency Syndrome, and it took them about six weeks to come up with the diagnosis.
Why did you have that suspicion?
Because my nephew had the same condition so I was pretty much aware and I’d helped my sister look after him. So I knew the similarities between my daughter and my nephew, which were just alarmingly similar, so in the back of my head was that doubt that maybe she might just have that condition. And so that was one of the first questions I asked and I was completely dismissed.
And apart from your nephew was there any other family history of it?
Not that I’m aware of no.
Talk us through the contact you had with the members of the health professionals at that point, the doctors and nurses and specialists.
My first contact was the GP and he examined her and felt her stomach and said you know, her stomach seems to be a bit distended. And I just laughed and said ‘she’s just fat.’ But then she wasn’t really presenting herself as a normal child because when you lifted her up at 5 months she should have been pointing her toes down and she wasn’t she was pulling her legs up, so I knew there was something not right. And then I asked him, could I have a second opinion and he said yes, let’s just refer you to the A & E and go and have her checked out. Take her to casualty because he wasn’t too happy with her either. Next contact at casualty was an SHO. I think he was very dismissive and I was there for hours and hours and hours. I was also pregnant again and I found them very very, I don’t know, cold as it were, and quite frankly it wasn’t a very nice experience. They told me they were going to keep her for a few days, three days they said because they thought she had some cells showing in her urine so they said they thought she had an infection. And I had been saying you know I think she’s got SCIDS which would have been a simple test but no, no, they weren’t going to do it.
The next point of contact was obviously on the ward. They then isolated her into a cubicle and I didn’t know why and then I was told she’d got BCG as a result of the BCG injection that she’d had when she was a couple of days old. I found the consultant very patronising and I found him very opinionated and also he would say to me ‘Oh I need to talk to your husband and you together. Can you ask him to be here at 12 o’clock’. And so he would take time off and turn up at the hospital for 12 o’clock and the consultant wouldn’t show up until 5 o’clock in the evening and so that was causing a lot of friction between myself and my husband because he was saying to me ‘Can’t you ask them to give us a time?’ and I said ‘Yes I am. They did give me 12 o’clock but if he doesn’t show up until 5 o’clock what am I to do about it?’ So you know all in all he wasn’t very pleasant.
Is this the person in your local hospital?
This is at the moment. I think the only person that I found very helpful was a doctor, the name has just gone out of my head, what department he works for. Blood?
Haematology thank you. He was very, very good because he asked me if I wanted to have - by this time quite a few weeks had gone by and then they realised I was pregnant as well and so I had been diagnosed with SCIDs - whether I wanted the baby I was carrying tested and I said yes. So he arranged for me to go to down to London to have the test done, which I did and it did give me, that there was a one percent chance of a miscarriage etc etc. Anyway he was very, very good. He sat me down, told me what the results were. That baby was a carrier as well so I then had to make a choice as to which child I would go with because obviously my daughter’s treatment was going to be a long haul. Because of the BCG things would be complicated. Would I go with the child that was living and give my full attention to that child, or would I have this child and the chances were that the two babies would be in two separate hospitals, one in London and one up north, so how were we going to divide ourselves between the two babies. And then he arranged for me to have a termination with obviously my consent and stuff and my husband’s. I think he was the only one who was really, really helpful. And then they would arrange for her to go down into surgery for - what was it they were going to do? I think they were going to put in a peg-line or a central line as they call it now and they would book her in for about 10 o’clock in the morning and it’s nil by mouth and the child is starving, crying, and it’s 4 o’clock in the afternoon and she still hasn’t been taken down to surgery, and I’m ranting and raving because that is just not on for a little child because she doesn’t understand at that age why she is being starved. And just little things like that which I found very, very annoying. Also they were very ‘anti’ me looking at the notes, the medical notes, or my husband looking at the medical notes because this was the medical profession and I was an ignorant mother and I wouldn’t understand what they were writing, but it’s surprising how quickly you educate yourself when your child is sick. But that was my experience locally.
When we got transferred to the hospital up north, it was a totally different ball game. We just couldn’t get over the fact that people were so open with us. They sat us down and the first thing they said was yes, this is what we are going to do and it’s a 50/50 chance of survival and we are not going to quote any more than that because your daughter’s got a lot of problems and its not just a straightforward SCID. She has got disseminated BCG in her body. She is riddled with that and it’s in her liver and we don’t know how the chemotherapy is going to affect her, which was great because they were quite open with us and I knew from day 1 what we were facing. The nurses were more than helpful, the SHO, the doctors. There was no ‘them and us’ situation and we were all in this together and we were all going to work together as a team to get this child better. I’ve only got praise for them. They were fantastic.
Up north, was this a genetic specialist unit or something?
This was a ward where yes I would say it was an immune unit with immune problems but it was part of a general ward as such, where children came in with infectious problems and weird and wonderful things but they’d got separate cubicles which were designed solely at that time, we only had the two cubicles for babies with Severe Combined Immune Deficiency Syndrome and they had the bubbles in there and nurses trained to deal with that and obviously the immunology consultant and the SHOs who were doing immunology at the time and the registrars.
Just to go back to that point when you were pregnant with your second child, what did you get in terms of counselling?
What about the discussion that occurred? What was that like even about the choices you had? Was that a frank discussion?
I think that was a fairly frank discussion. To be fair to the doctor, he didn’t have much time because my daughter was being moved on the Wednesday and the results had come in on the Monday, and he chatted to us Monday afternoon and it was just really quick. And I went into hospital on Monday evening. Obviously the baby had to be induced. That was on Tuesday and I had to come back and literally prepare myself for going off up north, so I never really had time to grieve over it or time to get any counselling for it. I had to put it at the back of my mind.
And you mentioned the fact that your sister had a child who had the same syndrome. How did that affect you and the family?
For me personally I was absolutely petrified because my sister’s baby actually died and I was the one looking after him in London, so it brought back memories for me from years ago. I remember when my daughter was first diagnosed, my first reaction was to ring up London and to speak to the consultant, who when I was there was a registrar but now was a consultant. I was in so much panic at the time. You know you are really fretting because you don’t know what to do and the only way, my way of coping was I’ve got to ring somebody familiar that I know who knew what I had been through. And the doctor was very, very good when I told him. “Oh but they are going to send her up north because there is no space in London”. And he was very reassuring. He told me he was in close contact with people there and I didn’t have to worry about anything. They knew what they were doing and he was very reassuring, had a very calming effect on me. But at the back of my mind I think there was still that horrible, horrible feeling because my nephew had died in my arms that history might repeat itself and I think I was constantly on edge and I think for the family as well although nobody voiced the fact that they were worried about this, I think it was at the back of everybody’s mind what had happened to my nephew may happen to my daughter. But luckily touch wood, she’s come through it.
And what about now, do you have contact with any kind of genetics services, any genetic nurses or genetic doctors, specialists?
No but I think the hospital up north are looking into it because my daughter’s was a very peculiar case and gave them a lot of headache to be quite honest with you, weird and wonderful things happening all the time. They are, as far as I am aware, I know that somebody is working on finding why and who is the carrier and why this has happened to her, whereas she is a female and my sister’s child was a male. So there is a general feeling that both my sister and I may be carriers and we have married partners who are carriers as well which is one in God knows how many million chances because neither my sister or her husband are related and I am married to an Englishman, so the chances of us being related is non-existent but we both seem to have married partners who are apparently carriers as well as ourselves.
So at the moment are there any tests to identify a carrier or any way of predicting that?
I think what they’ve told us, there’s a one in four chance of having a baby that is SCID.
And how does this affect your children at the moment? Obviously they are very young but for the future, have you any thoughts on it? Have they been tested in any way?
No not at the moment. I think it depends on who the carrier is and how the gene is passed. Whether it is going to be my daughter or whether it’s going to be my son, I don’t know yet but I think both the children are aware even at that young age. My son is 9 and my daughter is now 13. Both of them are aware that we’ve now got a history of SCIDS in the family and we haven’t really discussed it thoroughly but I have sort of you know, generally when we talk about my daughter being in hospital, or when we go to up north for my daughter’s yearly check-ups now, the other kids, obviously when we drive up now its four hours, a long time to drive. The children generally ask questions about it, my son ask does about my daughter’s condition, how it affects them, what happens if Mummy has another baby and things like that, so we are quite open about it.
OK you have identified some of the positive experiences you have had with the NHS and you have identified some of the more negative ones, but I was just wondering if there was any way that care could have been improved for you and your family, either in the past or things that you would like to see for the future. Is there anything you can think of?
Yes. I think when we were going to the local hospital. I don’t know whether they have changed their working methods or whether they are still working to the same principles. My daughter still sees the doctor here in after six months, now it works out she has an appointment in one year, after six months she has a check up with the doctor and then after another 6 months I take her up to the hospital up north, so it is like a yearly appointment with each one of them. I find the doctor’s department locally is very good because when my daughter caught chickenpox, all I had to do was ring them panicking, going ‘Aaaargh! she’s got chickenpox’. And the frightening thing is secondary infections there. I found them really good, very open. I don’t know how the other paediatric wards deal with anything and if I had to improve anything I would to say that they were a bit more open with parents and not treat parents as idiots because that’s the impression that we had when my daughter, even with my son because he had a diaphragmatic hernia. They used to go berserk if I wanted to look at the notes to see what they said and my son was born obviously after my daughter came home and my experience of the other hospital was now totally different, where I could access my child’s file. I could read what they had written, I could go into the office and they didn’t have a problem with me looking at my daughter’s blood results. There were no issues, nothing.
Whereas here locally, they’ve got a big hang-up about parents because what they said to me was ‘You wouldn’t understand’. I think they need to get over that that parents are idiots and haven’t got any medical, or knowledge of medical jargon, but I think once you read the notes you’ve got a general concept of what’s going on with your child and I think you need to know that. Because if people are not willing to let you have a look at a file, they’ve got to be hiding something from you and why can’t they be open? Having said that I did put it in writing asking to have access to my child’s file and to date, this is now 9 years on, I’ve had no reply.
OK. Is there anything else you would like to suggest in terms of the genetics services, how they can improve care for families or children?
I think for families, on the genetics side, I really don’t think we’ve had an in-depth session with them and it would be a nice idea to see where the gene comes from, to see whether I have passed it on to my children and really what are the chances of my children having children that are affected by the same genetic disorder because I really wouldn’t want either of my children to go through with their kids what I’ve been through with mine. It’s not a very nice experience and from that point of view I think it would be a good idea to know and for people. I think while you are still in hospital to be working on that, because once your child comes home you want to forget that part. You want to move on and I think this is what I’ve done because I don’t want to relive those experiences. I want to move on with life but having said that I still want to know how this is going to affect my children. The ideal time to work on that would have been when we were still in hospital with my daughter.
Have you ever been offered any kind of support in that context even now?
Not now but I think, my memory is not very good on this one. I think I was when daughter first came home…
Just to go over that point, if there was anything in terms of genetic information, would you like that and has it been received in the past?
Very briefly I think it was one interview, if I’m correct and that wasn’t much use because nobody knew where the gene was coming from. They hadn’t done any research on it and I didn’t feel any point in going. My husband’s quite a stubborn person anyway and he didn’t want to pursue that so I just left it but it would be nice to go and have it positively diagnosed as to who is carrying it how it is passed on and whether my children are carriers as well.
And is there any research or much research done on it?
I think so. I have a feeling that the hospital in London may be looking into it, because if my memory serves me right, the consultant up north, he mentioned something to that ilk, but I can always check on that and come back to you.
OK. And do you yourself have a lot of information about SCID, in terms of being able to talk to other people, tell them about it?
Yes, yes I do.
Is there anything else you would like to add to that.
Not really no.