How did you find out about the condition in your family?
My daughter had been suffering, for 19 months, a variety of symptoms from an inability to feed to an eventrated diaphragm which eventually extended into a loss of muscle tone throughout her body. We only had the symptoms put together for us a month before she died when we were finally referred to a hospital in London to see a Prof who had dealt with cases like this before. We had the final diagnosis 8 months after she had died. The final diagnosis was SMARD-1 (Spinal Muscular Atrophy with Respiratory Distress type 1
How has it changed your life?
Firstly, and most obviously, my daughter died with no definite cause. Before this I had had to delay my return to work because they could not find out "what was wrong with her" so we did not qualify for any help. My daughter stopped breathing every now and again, had to have major surgery at 8 months and was in a spinal cast refitted every 2 months. This all adds up to a family that does not fit into a medical category for help but can also not exist as though nothing is happening. We ended up quite isolated as people were frightened of my daughter and convinced that actually I was just paranoid. The strain of unpredictable 24 hour care and then another baby put immense pressure on our relationship. We had, on average, two appointments a week in any of 3 hospitals and 5 departments. We have lost faith in the medical system as they would not admit that they did not know what was wrong, speak to each other or answer our more serious question of "is this going to kill her". On the next level we now have a twenty five percent chance of having another child with the same condition so the impact continues.
What is your experience of the care you have had from the NHS (either positive or negative)?
The care we received was frightening. We were initially treated as though there was nothing wrong with my daughter and had to rely on a friend to get us an appointment with another paediatrician. When they finally believed there was something wrong we dealt with so many different departments and hospitals that could not or would not communicate with each other. In the end my daughter was finally admitted and we had to tell our local hospital what she had and what website they could find out about it on as they had not received any information.
Could you tell us about one experience that you particularly remember (either positive or negative)?
I went for an amnio 7 months after my daughter had died because the results of my daughters test were not available any earlier in the pregnancy. The condition they were testing for would be fatal for my unborn child if the test was positive and the midwife said "we will phone and tell you the results" I could not imagine anything more callous. Thankfully the consultant stepped in and said that he would arrange for someone either to come or let us know or we could go in and see him. I was not expecting special treatment but can you imagine finding out that your 32 week foetus is going to have a condition which will mean that it is probably dead by 2 years old over the phone?
How could we improve care for you and your family?
If you could educate people with an attitude of understanding that the knowledge that they have, or admit they donít have could drastically change a personís life. If you could teach people that a genetic disorder can be catastrophic and people somehow need to process the information they are giving them so they may need to write things down, repeat things or explain even the most basic things. If you could find out about their condition so that you can talk to them with a sound basis of knowledge so that they can trust you and feel that you can answer their questions. If you could emphasis the importance of empathy and honesty and nothing else you would be doing a great thing!
If there is anything else you would like to add, that you feel is important for the project, please go ahead.
I just have to say that without the amazing support from the genetics consultant we accidentally acquired we may never have found out what was wrong with our daughter. It was only through his honesty, time and support nurse that we have made it through this nightmare. They were the first people to treat us as people with a problem not the problem itself and broke far too many rules to help us.
Have you had any experience of genetic nurses? What was your experience of them and the other nurses?
We did have great contact with a genetic nurse after we had found the genetic consultant. She has been great. They seem to have more flexibility in their job role and far more time to listen to all the things that are difficult or that you are not yet getting treatment for. In the end she sorted out all the correspondence for us between consultants and with the consultant got us referred to a London hospital. To be honest she was the only nurses we saw outside of hospital admissions.
The midwife - please could you expand on the emotions felt with such a difficult encounter and what you would have preferred in place.
As with many things during my daughterís illness the frustration is immense. If I had had a previous miscarriage or still birth there is a code of conduct that is followed so that your next pregnancy is as stress free as possible. All of the nurses and midwives know the protocol and this has been established through working with affected groups of people. If your child has died of a genetic disorder there are no such rules during pregnancy at all, you are just another pregnant woman. I was not just someone having an amnio on the chance my child may have a problem previously unknown they were testing for something specific that had already killed one of my children. I know it is emotive language but it had killed her and it was horrific. I wanted to choose how I would find out. I would have like the option of going back to see someone to discuss the results. As it was I phoned the genetic nurse who got the consultant to let her know and she came to my house to tell me. I should not have had to do this the options should have been in place. Everyone is different but I think you need to have the choice and be asked what you would like within the limitations of the hospital.
What does it feel like when your family does not "fit into a medical category"?
You may sense some of my frustration in answer to your previous question! Nobody knows how to treat you, there are no guidelines and hospitals seem to function on guidelines and problems they have answers to. We didnít receive any care or disability allowances or community nursing for over a year because we could not be categorised. It means you constantly have to fight for anything. My daughter didnít see a physio etc because they didnít know what was wrong. As a parent, if your child doesnít sit up unaided until one year old you shouldnít have to fight to say that there is a problem. (sorry still a little angry about it!)
What was it like not getting any help as a result of that?
I didnít go back to work, I couldnít socialise. They wouldnít give us oxygen to travel so for a couple of months if my daughter was having a bad day we couldnít go out. For the first year it was just frustrating because her illness only affected her to a small degree but during the last six months we just seemed to be fighting all of the professionals to get anything. If we had had a category we would have qualified for respite, oxygen at home and to travel, help at home, family hospice time etc etc. I may have been able to spend some time with my son in the first 4 months of his life instead of sitting in ITU and HDU with my little girl for the 2 weeks he started to eat solids, laugh and do other stuff mothers might like to see!
Describe the isolation felt and what it made you feel like, when they were suggesting you were paranoid?
My child was crying 20 hours a day for over three months, I ended up with a psychiatrist sat in my lounge listening to her, when she finally fell asleep even he commented on how stressed it made you feel. We then spent 2 months in hospital so they could monitor her feeding where they concluded she had feeding problems but because she went very grey on the insertion of a feeding tube they wouldnít do it at home if she pulled it out because they didnít think it was safe so she didnít have one! I could go on as there are so many occasions like this where you practically scream at them to just tell you what is wrong because even the worst news would be better than the existence that you have.
What about the pressure on your relationship? What is it that couples need at such a time?
More than anything we just needed people to be honest with us. In our case we could have done with access to a nurse one night a month to stay with her so we could go out and talk instead of being in the house. Again I think people need the option to access things that would otherwise be inappropriate like a qualified person to babysit, someone to clean or just allow you safe time together without the constant worry.
Please expand on the communication issues with people in hospitals
Hospitals seem to be very protective of their own information and donít like to refer you or send other Drs letters to let them know what is going on. I understand that the child is meant to have brief medical records that the parents keep but in the end we asked to be copied in to the letters that were being sent between hospitals after appointments so that we could take them to make sure that they were there when we needed them. Patients should not have to do this. In one instance it took 3 months for a letter to arrive after an appointment discussing further treatment.
Not knowing - how do you think doctors handle that?
Honestly. If they tell you they donít know but offer you access to tests, other hospitals, specialist centres etc at least them you feel you have options. People can be supportive without knowing the final diagnosis by reacting to the impact of the individual problems rather than just searching for the label for the whole group of problems.
Again sorry for ranting but my little girl died and while she was alive there were so many obstacles to us just getting on with our lives and that was all we wanted to do. We stayed out of hospital as much as possible and just got on with it. I didnít even care if we ever were told the final diagnosis we just wanted help to safely stay at home and enjoy our daughter, who, by the way, was a very feisty little madam!