Dealing with diagnosis

We went to Center Parcs at Sherwood forest when Eilys was a little over 3 months old. It was a lovely holiday and we all fell in love with the place. While we were away Eilys was trying her hardest to roll over and was very nearly managing it. She could sit quite well when she was supported and her head control was really strong and sturdy. When we got home all this changed.

When we returned home Eilys just didn’t seem to be trying to roll, at all. At first we didn’t really notice but then it became more and more obvious as the weeks moved on. She was still quite strong and sturdy but was gradually getting less so. We tried to worry about it. We made a few jokes that she was just lazy and that she’d figured out that if she rolled over she’d be on her front and Eilys HATED being on her front. The fact that we made light of it really hurts me looking back, I should have known something was wrong and I should have been more worried than I was. And I was worried. I kept asking friends and family and they would say that I was being daft, that Eilys was fine and so happy, that Dylan did everything super early and it wasn’t fair of me to compare them.

Eilys nearly sitting unaided

After about a month, I started to look for some medical advice. I went to my Health Visitor and made an appointment to see her in a couple of weeks after her reassuring me that Eilys was just being lazy. Now her head control was starting to become noticeably less strong and when you lifted Eilys under her arms she just sort of hung there, a bit like a dead weight, not in the kicky and squirmy way that other babies did. I spoke to other Mums at baby groups. I talked to the play coordinator at a stay and play group for tips on getting her stronger and more willing to roll over. I tried to set up playmats so that all Eilys’ toys were out of her reach and tried to get her interested in rolling over but she wasn’t interested in rolling at all. We put her on her tummy for tummy time and tried to encourage her to roll back over but she would get really upset.

Trying to get Eilys to roll

During the appointment with our Health Visitor she went over a 6 month check list with me and Eilys scored really really low on all the physical things but very high on all the other things. Obviously I got more worried. The HV was lovely and really reassuring that I was just over thinking it and that some babies take longer than others to do things. I felt better bit I still knew that something wasn’t right. She suggested that I got an appointment with our Doctor but it was to put my mind at rest. Oh I didn’t mention, during this appointment I was a wreck. An absolute wreck. I was crying, shaking and just beside myself with worry. I was getting more and more into a state about it all and no one seemed to be listening to my concerns.

I made an appointment at the Doctor’s. I couldn’t get an appointment with the Pediatric Doctor at our surgery but they’re all really good so I wasn’t too worried, I knew I’d be listened to. And I was but I was also dismissed. He basically said that I was worrying over nothing and that she was just slower than other babies and there was nothing to worry about. Right. Ok. Thanks. I went home and drove myself slowly crazy for a few more days. Joe said I should make another appointment if I was still worried. So I did. This time with a female locum Doctor. She listened to my concerns and actually examined Eilys. She asked a lot of questions but again, didn’t seem that worried. She tried to put my mind at rest. “But she is regressing” I said over and over and I was just rebutted with it might seem like she is but she really isn’t, that Eilys was just being lazy or she was very content etc. To add to my concerns Eilys now had a cough and was becoming unwell too. She wasn’t really ill-ill but she was definitely coming down with something .

At this point, I think my family thought I was going crazy. I was so worried. I have googled her symptoms once and after a few pages of “all babies are different” and “babies do things at different rates” I came across a list of medical things it could be.  I read through a few conditions. Encephalitis, Muscular Dystrophy, Spinal Muscular Atrophy, Spinal injuries, Brain Injuries etc. The list was terrifying. My heart was in my mouth, I felt sick. Part of me knew. I just knew. I used to work with a student who had Spinal Muscular Atrophy so that was the one that stuck in my head. Also, weirdly, there was something about how Eilys’ hands looked that reminded me of that student’s hands. Anyway, I didn’t google again. I was too scared. Another thing I worried about a lot was that it was something that I had done. My greatest concern was that when we were at Center Parcs we had taken Eilys in the hot tub when the pool was really cold one evening. I was worried that this had maybe caused something to happen in Eilys. I felt so guilty.

We went back to the doctors on 30th November 2015. I spoke again at length with a Doctor about my concerns and how I felt like I was going crazy and that no one was listening to me. I listed all her symptoms, the Doctor checked Eilys over and I got the same line again. I was being paranoid. There was nothing wrong. All babies are different. Blah blah blah. My brain was screaming. I cried most of the way home. I could see it in the Doctor’s eyes that she thought I was being hysterical. That night at dinner I completely broke down to Joe. I was hysterical. I just didn’t know what to do. I knew something was wrong. I knew it wasn’t normal. Eilys was regressing. It wasn’t that she was not moving forwards with her development, she was moving backwards. Why would no one take my concerns seriously? Joe agreed that we needed her checked out properly and said that he would come with me to the doctor the next day.

I woke up and called the Doctors the usual 350 times to get an appointment and this time I stood my ground. I wanted an appointment today and I wanted the appointment to be with the pediatric doctor at the Surgery. Then off we all went to the Doctors. Again. The Doctor this time was brilliant. She was concerned. She listened. She checked Eilys over completely, she asked me and Joe loads of questions. Then she called the Children’s Ward at the local hospital. She wanted Eilys seen that day, asap. Finally! Someone was listening! Eilys was also struggling with her cough more and she wanted that checking out too. The ward was rammed so they said no, not today but told our Doctor to send over an appointment request and they would sort it so we were seen by a consultant as soon as they could. At the end of the appointment, I looked at the Doctor and said “Is there anything we can do to help her in the meantime as we wait for the appointment?” and she just looked at me and said “Just love her” there was something in the way she said it that made it sound like a bad prognosis.

The following day my Dad took the day off to visit me as he was getting worried about how upset I was. We had a lovely morning with Eilys but she was getting more poorly with her cough and chest. The Doctor had said to call the hospital to get the appointment date and time confirmed. I was expecting them to say later on that day or maybe by the end of the week. They appointment they gave us, our emergency appointment, was for 6 weeks later. 6 WEEKS!! Gutted doesn’t even come close. I called the Doctor who said she would chase it up and call me the following day.

A visit from GP

As the day went on Eilys was getting more and more poorly, I couldn’t get a Doctors appointment so by the time Joe got home from work I had got both kidlets ready to go to the walk in clinic at the hospital. After a long wait we were seen by a triage nurse and moved to A&E where we were seen by a Doctor who admitted Eilys to the Children’s Ward with Bronchiolitis. She was put in a ventilated box thing and put on medication to make her better. The consultant took our concerns about her regression seriously and said he’d run some tests in the morning. I stayed with Eilys that night on a fold out bed and Joe went home with Dylan. I didn’t sleep. I lay there and just panicked. I had wanted answers but now I was too scared to get them. I didn’t want bad news. And she was so poorly with bronchiolitis on top of everything else.

Hospital Day 1

In the middle of the night a Consultant and a trainee Doctor came in to see Eilys and they were talking about what her symptoms could mean, thinking I was asleep. They thought Spinal Muscular Atophy and spoke about that likely outcomes and then a couple of other conditions too. Overhearing this exchange broke my heart as I silently listened to them say that my daughter, my beautiful baby daughter, might have something that would mean that she wouldn’t live to see her second birthday. As soon as they left I broke down completely but I didn’t tell anyone else what I’d overheard. They didn’t need to know. Not yet.

Hospital Day 2

The following day Eilys deteriorated and had to be put on CPAP (a ventilator mask on her nose to force air into her lungs). They took bloods to run the tests that they wanted to check on her regression. Over the next few days she got better. She was moved from CPAP to BiPAP and then taken off ventilation all together. That was the best bit because I was able to hold her again. I missed snuggling her so much but with all the equipment that went with the ventilator it wasn’t an option and even when we did try she hated it so we stopped.

During her 6 days in hospital Eilys developed a love for CBeeBies especially My Pet and Me, all the nurses and doctors fell under her spell and we had lots of visitors. We were finally allowed to go home on the 8th and told that the results from her blood tests would go to Alder Hey Children’s Hospital and that Eilys had been referred there for further investigation.

Home at last

It was so lovely to have her home. To be a family again. She had missed Dylan and Dylan had really really missed her. It was so lovely. For 3 days. During those days it did feel like we’d got over the worst of it but also I knew that the worst was looming. It was a weird type of limbo, I desperately wanted everything to be OK but I knew that it wasn’t going to be. I did a lot of bargaining. I was running some errands in town when I saw an old guy struggling to walk and I went to help him, he needed to get to the benefits office to claim his disability allowance or something and part of me thought “I have done a good deed so maybe the news will be good news”. There were lots of little things like this that I tortured myself with.

On the 11th December me, Joe and Eilys went to Alder Hey to meet with a Neuromuscular Consultant called Dr Spinty to have our world turned upsidedown and our hearts broken with the terminal diagnosis of Spinal Muscular Atrophy Type 1. I have explained what happened at that appointment here.

Alder Hey

Getting Eilys’ diagnosis was the awful but the not knowing was so much worse. With the knowledge of what we were dealing with we were able to more forward. We wanted to make her life matter. We wanted to fill it with love and memories and that is what we focused on as much as we could.

One of the things that really distresses me, even now, is how much I had to fight to get her diagnosed. Why on earth was it so difficult and why didn’t anyone really listen to me? It was pretty much 2 months of me being told that I was imagining an issue. I felt so stupid a lot of the time, like I was wasting people’s time and that I was being hysterical. I know being diagnosed earlier wouldn’t have helped her prognosis but how many other mothers get the same treatment for things where time is of the essence? Just because I am a mother and I have a little baby doesn’t mean that I am being overly cautious or that I am making things up that aren’t there! If I was taken seriously after the first appointment it could have saved a lot of torment and heartache and I could have spent those 2 months just enjoying being with Eilys rather than losing my mind.

If you are worried about your child then don’t take no for an answer. Stand firm and make them take notice and if the first person you see doesn’t then go and see someone else. Keep going back and keep badgering until they listen!!

Thanks for reading (sorry it was an actual essay!)


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