The Gift I couldn’t Keep: Part 3, Living with a Shadow

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This is the story of our daughter with Tay-Sachs Disease.  If you missed Part 1 or Part 2, you can catch up before carrying on.

We left the hospital and tried to carry on with our lives.  Two days later I got up to give Amy her breakfast, when one side of her face started twitching and her eye started blinking furiously at me – I knew straight away what it was, a seizure (a fit).  At the time we lived literally round the corner from our local hospital, I shouted for DH, told him not to call an ambulance but to drive us there instead as it would be quicker.  Looking back now I should have called an ambulance but I thought I was doing the right thing just getting her to hospital.  I tried to remember my medical training, I put her on her side on the sofa.  She threw up everywhere all over the sofa.  I threw some clothes on and carried her in the car.  I remember stopping at the traffic lights and DH banging his fists on the dashboard, but the other drivers didn’t know we had an emergency going on!  He dropped me at the A & E entrance and I ran in, saw a nurse and said, “She’s having a seizure!” She rushed me in.  Amy still had bruises on her arm and hands from the blood tests she’d had in the hospital, the doctors gave me a bit of a stare at first, I could imagine what they were thinking, I was crying but tried to calm down and tell them she had an undiagnosed (at the time) neurological condition.  I was terrified she’d not smile again and wouldn’t be the same again – it was too soon, I wasn’t ready.  They managed to get the seizure under control and she went to sleep.  My in-laws came to be with us, they didn’t hesitate and dropped everything, something I’m forever grateful for.  When she woke up she was ok, and later that day she managed to smile again, which was such a relief.  I knew that we would lose her smile but I wasn’t prepared for it to be so soon.  I wasn’t sure how much more I could take.  She was put on anti-seizure medication and we were given an emergency medicine to put in her mouth if she had an uncontrollable seizure again.

Life returned to somewhat normal.  We were allocated a children’s nurse, and regular sessions with the therapy team. These were a source of stress for me, because they never seemed to get it that she wasn’t going to improve, only worsen, so really, what was the point?  Eventually they changed it to a therapy lightroom session, but I gradually phased them out, it was more hassle to attend them than anything I or she got out of it.

We went on holiday with family to the Isle of Wight later that year (2007).  A couple of days before going, I noticed her lips go blue a couple of times, but it was so fleeting I didn’t know what it was.  On holiday it got worse, so we went off to the local hospital – by this time we were unfortunately getting used to hospitals!  She was having breakthrough seizures and whilst we were there needed her emergency medicine.  We were advised to increase the medication and add in a different one which seemed to help.  From then on every so often we would need to phone the neurology team and get the ok to increase doses to stop the seizures breaking through.  Over time we wouldn’t get complete control, just less breakthrough. It was so hard seeing her little body endure the fits, not knowing if they were painful to her.  It was on this holiday that she lost her ability to cry and smile.  She always used to fuss a bit when going to bed, but this just faded away.  I spent a long time over the next weeks agonising over whether she still felt the distress but just couldn’t verbalise it, or whether she wasn’t distressed and couldn’t show it – I’ll never know for sure, but I learnt to live with it, all we could do was make sure she was fed, clean, comfortable as much as possible.

Feeding was a serious issue.  She could take milk from a bottle, and puree, but this was getting harder for her to take.  We had her swallow tested, we knew eventually she would need tube feeding but we didn’t know when.  I didn’t want to wait until she couldn’t swallow before a tube could be inserted, we went on a waiting list for a PEG (percutaneous endoscopic gastrosotomy), a tube that gets put directly into the stomach.  That first Christmas after diagnosis was awful, she ate less and less, refused solids completely.  You can see from this photo, I’m smiling and it was a nice day, but I could only get fluids into her.  I gave up trying the solids and decided to contact the hospital.

Boxing day or the day after we were back in hospital again in London.  She had a Naso Gastric Tube (inserted into the nose to the stomach) put in and at last I could stop worrying about getting food and medication in the traditional way.  It was sad, because I’m such a foodie and associate food with comfort, but she had been struggling and coughing with food that she was so much better off.  They worked out how many calories she’d need, and she gained weight – a little too much, we had to adjust it as she couldn’t move by this point so she wasn’t expending any energy.

After the diagnosis we were also referred to the local children’s hospice, Demelza house.  At first we were resistant, weren’t hospices for when you died?  It turns out no, it’s to help when you’re alive too, not just for end of life care.  They arranged for regular respite stays, so we could go away together, or just have a break.  The first time I went I found it hard, the staff were lovely, if a bit patronising.  I always felt like I was going  to a nice grandma-ish type place, they constantly offer tea and cakes and sympathy.  I’ll never forget the support and love they gave us and Amy, and I continue to support them as a charity, I play their lottery and will always donate when I can – they are a full charity, without them I really would have had a breakdown.

That year was very difficult.  Amy was stable, she wasn’t imminently dying, she had the tube fitted.  She became completely unresponsive, so I basically had a beautiful doll that I dressed, fed via a pump and sat with. I had help from a carer that came twice a week so I could go out, I did take her out but I preferred not to, she was difficult to manouvre and we got given a rather unwieldy buggy/wheelchair which she never looked that comfortable in.  She couldn’t even hold her head up. I’d cut down my work to one night a week at the local hospital, and my mum and dad looked after her whilst I slept.

People said I was brave and strong but I didn’t feel it – maybe I just put a brave face on?  I don’t know what the opposite would be, maybe crying a lot more in public or going off the rails or having a breakdown?  I don’t know – I’d actually come off the anti depressants when I got over the postnatal depression, and I didn’t see the point in going on them again, they couldn’t change the situation.  I just had to get on with it.  We went to a family wedding in the september of 2008 and I sat next to the partner of a relative we don’t see much – he kept on and on about how wonderful we were and how amazing every time I did anything with her.  It was so annoying, what were we supposed to do, put her in a corner and forget about her?  I was just looking after her, like anyone would.

At one point I really couldn’t cope, I just couldn’t cope with looking at her and being reminded all the time, I tried to get her in to the hospice for respite, but they were full.  I rang my nurse in desperation and it almost came to her going to a foster home for the weekend, then they managed to get her in to the hospice for a few days.  That’s all I needed, a break.  Demelza house were always there for us for support and respite, and when she was ill.

I knew one day she would get a chest infection, and that would likely be her cause of death, so I knew it would come.  Part 4 will carry on the story of her getting a chest infection and fighting on, living with a sick and disabled child.  From November 2007 we started to try for a healthy baby, but I’ve decided to write about that separately, as that is a whole other story!

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