Rare Disease Day takes place on the last day of February every year to raise awareness for rare diseases and the impact they can have on patients’ lives. Many of the children Roald Dahl Specialist Nurses support have a rare disease and we regularly hear about the immense challenges families who have a child with a rare disease face. Before having the support of a Roald Dahl Specialist Nurse, families have had to co-ordinate large numbers of appointments with multiple consultants or feel that they have to cope on their own with the stress of not knowing what the future holds for their child. Roald Dahl’s Marvellous Children’s Charity recognised the urgent need for specialist nursing support for these families and established the UK’s first Rare Disease Specialist Nurses as a result. There are now four Roald Dahl Rare Disease Specialist Nurses at Birmingham Children’s Hospital and one of the children they care for is 7-year old Logan. We caught up with his mum, Sophie to find out more.
Sophie: “Before Logan was born, when I was 12 weeks pregnant, they picked up that he had fetal hydrops (a collection of abnormal fluid in or around the baby’s body). Most babies diagnosed with this do not survive pregnancy and if they do only 20% survive birth. He's 7 now so he defied the odds before he was even born! They said he was incompatible with life and ushered me out and asked if I wanted a termination, but I decided I wanted to go through with the pregnancy, no matter what. When he was born, the physical abnormalities were obvious. They think he has VACTERL Association, but this isn’t confirmed. He is under a total of 14 specialist doctors. He has congenital heart disease, spinal abnormalities and a short stature. He has underdeveloped thumbs and ears that aren’t properly formed. He has recurrent respiratory infections. He also is coeliac and has gastric problems. Many of the issues he was born with are not normally seen in other VACTERL children. He has taken part in a Deciphering Developmental Disorders (DDD) study with Genetics Services, but nothing has come back from that. So that’s why they say he has both VACTERL Association and a very rare, undiagnosed genetic condition.
When Logan was younger, he had lots of operations. When he was born, they didn’t realise that there was anything wrong with his heart but then he had cardiac failure and had to have open heart surgery when he was six weeks old. He’s had surgery on his thumbs and an operation on his skull to implant bone anchored hearing aids so he can use his hearing aid. He will be having reconstruction on his ears in a few years if he chooses to. He needed an operation to put a PEG into his tummy so he could be fed via a tube. This was because he had respiratory based dysphagia which meant swallowing was unsafe. This has thankfully improved, so the tube is now just used for fluids.
How does Logan’s condition affect him? “His condition impacts Logan massively. A lot of his issues are hidden so people don’t understand how much is going on. They can see he has a tube and his ears haven’t formed and that he’s small for his age but other than that you wouldn’t think there was much going on. More recently, his behaviour has got worse. They think he’s on the spectrum but it’s a long process to go through, so we are at the beginning of that phase. His overall condition impacts him every single day. He has a wheelchair as he struggles with long distances. He’s got a muscular skeletal disorder, which affects his bones, but we haven’t had much information about it. He has a lot of pain in his ankles and hips. He is on medication every day. We’ve been lucky that we got a hot tub from a charity, so he goes in that regularly for physio as it relieves his symptoms. But there’s nothing they can do as they don’t know what’s wrong. That’s the hardest part and it can be quite scary. If your child gets diagnosed, you can chat to parents in the same boat. You can talk to parents who have a child that has a PEG or with the same ear or heart problem, but no parent out there has a child with every that Logan has got. It’s really tough. I often wonder, what does the future hold for Logan? I shouldn’t worry as he’s here and he’s stable, but I imagine it’s quite frustrating for Logan as he can’t understand why he has to be at the hospital so much. He always says, “have I really got to go again?”
Logan is a typical little boy. He’s into football and goes to mainstream school. He loves to swim but his absolute favourite thing is Duplo. He loves building. He’s pirate mad! He’s actually getting a Duplo pirate ship delivered for the garden for his birthday, which we’re all very excited about! He’s quite shy at first but overall, he is very happy. After two years, his Roald Dahl Nurse, Sarah is now getting conversation out of Logan which is a great.
What impact has having a child with a lifelong illness had on you and your family? “It’s had a big impact. I had to stop working when Logan was three as it got too much. There were too many appointments for me to continue work. I also had two more children. They feel the effect too. We can’t do certain things that other families can do. We are more limited as to where we can go. It’s an emotional struggle too. I find it really hard at times. Some weeks are harder than others. Having a child with a rare disease throws you into the world of the unknown. Until you’re in that world you can’t understand how hard it can be. It can be so rewarding when Logan does things, they say he would never be able to do such as walking as he has scoliosis, but it isn’t as bad as they thought. We didn’t think he would go to a mainstream school either. He’s defied all the odds stacked against him as a baby. He’s proved how strong he is.”
How has your Roald Dahl Nurse, Sarah, helped? “We’ve had our Roald Dahl Nurse, Sarah for two and a half years, since Waterfall House opened at Birmingham Children’s Hospital. As a family, our life has been turned around for the better thanks to Sarah. I do feel that Sarah was the missing link. As a parent, I’m Logan’s carer, physio, audiologist etc. and it’s tiring to link everything together. I’m like his PA. Before I had our Roald Dahl Nurse, I did find myself phoning around organising appointments and transport and there was no one there to help me with that. Having to phone the hospital multiple times and then leave a message is a nightmare. It’s so much easier now. Sarah simply says: “I’ll sort that.” It’s pretty amazing what she does.
Before Sarah, we had problems where the specialist teams didn’t speak to one another and there was a lot of confusion as a result. One time this led to a referral being put in for the wrong piece of equipment – a wheelchair rather than a special buggy. The referral that went in was soul destroying for us as parents. If we had had Sarah then, she would have said, “hang on a minute, you’re missing out information.” We don’t have any of those kinds of problems now. Sarah is that missing link and ensures there is communication between everyone. She’ll arrange meetings at Logan’s school so that the teachers understand his needs. She is more aware of everything that Logan has going on and can fill in the other healthcare professionals rather than me having to do it. Before Sarah, I found myself repeating myself all the time.”
“Sarah has helped with Disability Living Allowance (DLA) forms, which can be emotionally difficult to fill in as you have to write down what your child can’t do rather than what they can. She has helped with grant forms and asked for a referral for early help through Worcestershire County Council. She helps the whole family. All our children have medical needs. Although she is Logan’s Rare Disease Nurse, by helping him, it’s helping all of the other children too. She’s just fab, absolutely fab. There are times she’ll ring and ask “how’s your week been?” and I’ll just cry. She is someone I can offload to. For example, as Logan is coeliac, he has a coeliac dietician and a normal dietician and we weren’t sure which one to go to, so when I called Sarah, I just started crying as it was all so confusing. She said, “give me 10 minutes and I’ll sort it.” She then called back and said, “right, this week you have an appointment with the coeliac dietician and next week, an appointment with the other dietician, is that ok or should I rearrange them?” That would have taken me hours to do – she relieves a lot of stress for me.
I don’t think Sarah realises how important she is to us. She says, “it’s my job.” But she goes above and beyond. She’s obviously passionate about her job but it’s who she is that makes her amazing at her job. All the nurses are brilliant, but Sarah is special to us. If we didn’t have our Roald Dahl Nurse, I would feel really lost again. I feel that we were going to get lost in the system. I’d really struggle again. I really struggled before with my mental health because of the stress and strain of Logan’s health problems. I wouldn’t want to think about how much we would struggle without her. I’d have to become Logan’s PA again! It would be really difficult. As he gets older, he’s become more complex. Things are coming out of the woodwork so it’s only going to get harder, so having Sarah is even more important to us.
What would you say to people who have donated to Roald Dahl’s Marvellous Children’s Charity and helped fund your Roald Dahl Nurse? “To those who have donated to Roald Dahl’s Marvellous Children’s Charity and helped provide our Roald Dahl Nurse, I’d say that with their donations they have literally changed not just Logan’s life but his family’s life as well. Their donations are so valuable. I can’t put into words how much it means to us having our Roald Dahl Nurse, Sarah. It’s really difficult as a parent to deal with so much and your child can get lost in the system. Before we had Sarah, Logan was struggling, and I thought no one was listening to me. She keeps us afloat when we were sinking – she keeps us going.
If you would like to support Roald Dahl's Marvellous Children's Charity so we can establish more Roald Dahl Specialist Nurses like Sarah, please visit www.roalddahl.com/donate