Patient Stories - Amelia D

“But Keech isn’t just a place for us to go, the people there are our friends, a part of our family.”

Coming to terms with a diagnosis

Amelia was diagnosed with a rare genetic muscular disorder called Nemaline Myopathy Type 2 when she was just two weeks old. My husband Paul, 36, and I have a particular recessive gene and when both parents have that gene, it causes Nemaline Myopathy. It is so rare it affects around 1 in 50,000 people.

When I was pregnant we had no idea Amelia had this disorder. At the 20 week scan we were told she had clubfoot – where the feet grow inwards – but all the other scans and tests showed that everything else was normal. The pregnancy was horrific for us, I could never relax, I just wanted her to be here and for it to be over. When I was pregnant all I worried about was her feet, I wish it was just that now.

When Amelia was born we discovered she also had a cleft palate which hadn’t been detected during the pregnancy and she needed to be on oxygen as she was struggling to breathe on her own. It took us a long time to get our heads around what was happening. For weeks I just kept trying to be positive, she would be fine and would be able to come home soon. Looking back I was in complete denial about the seriousness of her condition.

It’s so hard to watch your baby go through all of this, nothing can prepare you for it. I remember when Amelia had an MRI when she was just a week old and was put in this giant incubator. She looked so small and innocent, I just wanted to rescue her, but I couldn’t. I don’t think any parent can be prepared for their child to be diagnosed with a life-limiting illness, whether it be mild or extremely severe, it’s your child this is happening to and there is nothing you can do. Your first thought as a parent is: ‘How can I fix this? What did I do wrong? How will I ever cope with a child who is disabled?’

Amelia had to stay in hospital for seven weeks after she was born while they carried out tests and because she was struggling to keep her feeds down and kept vomiting. And even once she was up to two hourly feeds we were still in and out of hospital for the first four months of her life. Before she was born we thought Christmas would be fine, we’d get her feet sorted and be home for her first Christmas. In reality it was nothing like that. It was hard because Amelia couldn’t even come home and spent her first Christmas in hospital. There were moments of joy but it was like living our worst nightmare.

We had moved house that June and it was going to be our first Christmas in our new home, I had it all planned, it was going to be great. We had so many plans, I’d done all the shopping already and wrapped everything because I knew with a toddler and a newborn I’d never get it all done in time if I waited until after Amelia was born. Then suddenly we found out our baby had this rare genetic disorder and all our whole world collapsed around us.

Thank god we had our two-year-old daughter Penelope – she kept us going. We woke up with her at home on Christmas morning before the three of us went to the hospital to spend the day with Amelia. They had presents for all the children and Penelope was running around with jingle bells on making everyone laugh. We tried our hardest to make it special for her and have the best Christmas that we could, but the truth is we couldn’t wait for it to be over.It was made even harder because they transferred Amelia between hospitals on Christmas Day. At Addenbrooke’s Hospital in Cambridge we knew all the staff, we knew exactly where she would be every day and how to get there. Then on Christmas evening she was moved to Lister Hospital in Stevenage and it was awful, we didn’t know anyone and couldn’t imagine where she’d be because we didn’t know what part of the hospital she was in.

Meeting Keech

This year it’s going to be different. Amelia will have just turned one-year-old and it’s going to be the best day it can be. We’ll be together, we’ll watch ‘It’s a Wonderful Life’ as that’s our Christmas family tradition and it will be amazing as long as she stays well and out of hospital. As long as we’re not in lockdown again we will see our parents, but really the most important thing is the four of us being together at home at Christmas while we can. Last year we felt so alone, but this year we have Keech by our sides.

When we were first referred to Keech Hospice Care we didn’t know what it was so we thought it meant they were telling us our baby girl was about to die. It wasn’t until one of the nurses at Lister explained it better that we understood. Carly, one of Keech’s amazing nurses, came round and we just talked about everything. It was scary at first because when you think of a hospice you do think end of life but that’s completely wrong. They’re there to give us help because it is hard and you need it. You need help dealing with all of your emotions, help with how to explain it all to your other children, and Keech is there to give it.

The day we first visited the hospice when Amelia was around two months old our eyes were opened. We spent a wonderful day meeting other families just like ours with children who also had feeding tubes, were in wheelchairs or on oxygen, children who couldn’t sit up but were still playing and enjoying the special sensory room they have there. For the first time I didn’t feel like the odd one out. It is the one place we can go where we aren’t watched and I don’t have people thinking ‘oh that poor woman’. At Keech there are people who understand where I am coming from and who aren’t fazed by the meds or the beeping machines, it’s all normal.

Carly organises everything for us and has helped us put together a care plan for when the time does come that Amelia is no longer with us. I don’t know what we’d do without Keech. Knowing you have that support and that everything is in place for whenever that day will be is so important. We know they will be there for Penelope too. Carly has visited us a lot and I know I can call her anytime. Paul has spoken to Keech’s bereavement counsellor and Faye, our fantastic community healthcare assistant, came round and did castings of the girls’ handprints which was just wonderful. I can’t wait until we can go back to the hospice. Lockdown has been really tough for families like ours. We’ve been out on a family adventure to Woburn Safari Park recently but otherwise just had a few people round in the garden, we want to keep Amelia safe but still need to feel connected.

When we realised the extent of Amelia’s condition we thought ‘how are we going to do this?’ but since being at Keech it has opened our eyes that we can do it. Penelope loves it because there are so many toys. I can’t take Amelia to baby groups and classes but I can take her to the play groups at the hospice, all the mums are like me, it’s clean and safe and I’m able to have a cup of tea knowing the girls are fine. It’s so important to have that otherwise I’d just be stuck at home. But Keech isn’t just a place for us to go, the people there are our friends, a part of our family.

Amelia’s condition means she can’t hold her head up or sit up by herself, she’s very floppy, it’s like having a newborn baby but harder because she’s getting heavier all the time. She can’t do any of the things Penelope did at her age like crawling, walking, or even weaning because she’s fed through a tube. It doesn’t affect her mind though so it’s like she’s trapped in her body.
Despite everything she’s been through Amelia is such a lovely girl. She’s very cuddly and her smile lights up a room. She loves playing with her feet and eating her toes! She giggles all the time and adores her sister Penelope. She’s our little angel, she’s so beautiful.

Since we found out we were having a girl I imagined the two of them running around and playing together, dancing to Frozen together, so it’s hard now to come to terms with the fact that will never happen. But Penelope doesn’t know any different so she thinks all babies are like Amelia. She thinks they’re all tube fed because she doesn’t see any other children at the moment. We don’t know what to tell her because we don’t know how long Amelia is going to be with us. We don’t want it to affect her now so just try and have as much fun and time together as we can. They have such a lovely bond. One of the other mums at Keech told me once it was a bond like you’ll never see anywhere else.

The hardest day will be when we have to go back to being a three. The doctors have told us that because Amelia has a very severe form of Nemaline Myopathy her life expectancy is between two and three years. If we only have two years then that’s what we have and we will make the best of it but if we have more then that’s amazing. We want her to have the best, most comfortable life she can without going back and forth to hospital.

Our lives have completely changed to something we’d have never thought was possible but we are still happy. We really struggled with it all in the beginning and thought we were never going to be happy again, but we’re in a better place now and wouldn’t change her for the world.