Shailza and Daniel have two beautiful boys just a year apart in age. They smile and giggle and win hearts just like any other 4 and 5 year old but sadly neither Riley nor Stanley is able to sit, walk, talk or even feed properly. Both boys have been diagnosed with a very rare genetic condition involving a duplication of an X chromosome which has left them with very poor muscle tone and requiring constant care. The condition is so rare that not even the hospital specialists are able to predict what the future looks like for Riley and Stanley. It is simply a question of taking each day as it comes.
Here Shailza shares her story about life with her boys and how the Rennie Grove children’s hospice at home team has become her lifeline.
“I was really happy when I found out I was pregnant with Riley. I’d had a few problems conceiving and had almost given up hope it would happen naturally so when it did, we were delighted.
“I had a normal pregnancy but developed gestational diabetes which led to labour being induced at 39 weeks. It was a long and difficult labour lasting four days and when Riley was finally born with the help of a forceps delivery, we were both exhausted. There were a few early problems; Riley didn’t cry properly which led to him spending a few days in the special care baby unit, he also didn’t latch on and he had bad jaundice but we were told everything was fine and it was just a result of the long labour.
“Once at home, Riley grew normally and was a very good baby. I had postnatal depression which was linked to my disappointment about not being able to breastfeed and it was not until he was about 4 or 5 months old that I started to think things might not be right. Riley became seriously ill when he was 6 months old and my GP sent us to the children’s Accident and Emergency department where the consultant said something was wrong and was concerned that he was not holding his head.
“We were referred to specialists who started to ask about our family history. It was only at this point that I connected some events that had occurred in my family and realised that there might be a hereditary genetic problem. There followed a raft of genetic testing for members of my family and the disorder, which affects only males, was identified.
“By this time Riley was 8 months old and I was already 20 weeks pregnant with Stanley. We had found out that he was a boy and we knew that there was a chance he would have the disorder too, but it was only a chance and as it wasn’t possible to test Stanley at this time, I couldn’t consider a termination – there was a chance that he would be fine.
“The extent of the effect of the condition on Riley was becoming apparent at this stage. He could not sit or roll over and it was clear that he was not going to be able to walk. He also did not develop speech and could not do anything for himself. Life became a constant round of hospital appointments and managing Riley’s care around the clock which was exhausting.
“We were referred to the Rennie Grove children’s service and they began a weekly three hour visit when one of the charity’s nurses was able to take over all of Riley’s care needs to give Daniel and me a break. They also helped us liaise with other healthcare professionals involved with Riley.
“Stanley arrived 3 weeks early by emergency caesarean as he was breach. The hospital checked him for muscle tone and they said he was fine. He was a strong baby; he was alert and active and latched on and breastfed well. He was very different to Riley and I convinced myself that everything was ok. I didn’t even ask for a genetic test.”
“When he was three and a half months old I took him to India for my sister’s wedding and the minute my Auntie saw him, she said he was the same. She could see it. I was heartbroken and as soon as we returned I discussed it with the Rennie Grove children’s service nurse who was helping us with Riley. I was very emotional but we decided to ask for the genetic test which confirmed what we had feared, Stanley was affected in the same way as Riley.
“The Rennie Grove team then took Stanley onto their books too and continued with their weekly visits. Both boys developed distressing difficulties with swallowing and feeding which led to them needing naso-gastric tubes and ultimately they both had gastrostomies fitted which are a feeding device that goes straight into the stomach.
“The boys had the operations at different times and the team supported us through them both by providing extra care at home so that both Daniel and I could visit the hospital.
“At the point when Stanley was diagnosed we were living with Daniel’s parents but we badly needed our own space the nurses, were able to help us with a housing application and just before Stanley’s first birthday we moved into our own flat.
“It was at this point that worries for the future really hit me. I felt very scared about what would happen and what our life would be like. Would the boys die and how would Daniel and I cope?
“But we are coping. The boys’ smiles really keep us going and the Children’s Hospice at Home team play a large part in helping us cope too.
“It is immensely reassuring that the team is only a phone call away, 24 hours a day, every day of the year. The whole team is fantastic. We have called them at night for help and advice. Daniel works nights and there have been two occasions when I have become really unwell and have been unable to care for the boys. A nurse has come out without hesitation on both occasions to look after the boys until Daniel was able to get home and on one occasion continued to care for Riley and Stanley while Daniel took me to hospital.
“Knowing that there is help at hand 24 hours a day is immensely reassuring. I have also called them at night for advice when the boys become ill and I was unsure about whether or not to call an ambulance. They will always offer advice and come out if needed and if the boys are in hospital they will come and visit.
“Every member of the team shows the utmost professionalism at all times, but they are so friendly and caring that they feel like part of the family. While I do sometimes use the three hour weekly visits to have some time to myself, on other occasions we plan to take the boys out. I can’t manage to take both of them out on my own so we might plan a walk or a swimming trip. I am determined to give the boys as much quality of life as I can and they really enjoy these trips out and they absolutely adore the nurses.
“I am also able to talk to them about new symptoms that might develop and they advise me accordingly. For example, it was one of the nurses who looked at Stanley’s tonsils when I said that he was not sleeping properly and she spotted that they were big and recommended that I speak to the consultant about it. They then did a sleep study and diagnosed sleep apnoea and Stanley has now had his tonsils removed.
“Two years ago Riley developed seizures which is an extra worry, particularly as they are getting worse and are sometimes prolonged. So far Stanley does not suffer from seizures but he does have spasms which means we have to monitor him closely too. Both boys also have frequent chest infections which can be challenging.
“Caring for both boys round the clock is exhausting. They need medication, water and feeding at regular intervals throughout the day and they need to be turned three times a night, and because of the seizures, I also have to monitor Riley’s temperature. If I’m lucky I will get three or four hours of sleep in between caring for them. But if I’m worried or they are unsettled, I often sleep very little. There’s so much to think about that I do find it hard to switch off and sleep, even if the boys are fine. I have had Reiki Therapy through Rennie Grove which has really helped with this. It taught me some little breathing exercises to help me fall asleep quicker and they actually do work!
“The boys’ needs are increasing all the time but with the help of Rennie Grove we are accessing as much extra support as we can. We have had a lift installed for the boys and are waiting for an extension which will give us more room for all their equipment and provide level access to the garden so we can take the boys outside more easily.
“Riley and Stanley are both now at school during the day which definitely helps Daniel and I so much but the Rennie Grove Team still visit us weekly in the late afternoon or early evening when the boys are home and the nurse often comes with a healthcare assistant. The boys get so excited about the visits because in addition to the practical help with their care such as chest physiotherapy, they absolutely love the extra attention and stimulation.
“The Children’s Hospice at Home service has been a lifeline for us. It is very important to have someone you can rely on and who you know won’t let you down when you are in real need. It is so reassuring to know that if we ask for help and advice, it will be given without hesitation, whatever time of the day or night.
“We are just taking each day as it comes. We don’t really know what the future holds but with Rennie Grove just a phone call away, we face that future with much more confidence than we would otherwise."
Coping in lockdown
The first lockdown coincided with Riley’s muscle spasms becoming more frequent and intense.
“He was having really bad spasms that made him so stiff,” says his mum, Shailza. “They were happening so often that he was only getting about two and a half hours’ sleep every 24 hours. He would doze off on my lap for about 20 minutes before another spasm woke him. It was awful to see him looking so ill. He was losing weight, exhausted and in pain.”
Riley had been about to begin a trial to try and reduce the spasms, but it ended up being delayed by more than a year because of the pandemic.
“He really suffered during that time,” says Shailza. “He had a spell in Helen and Douglas House to help manage the pain, and the Rennie Grove Children’s Nurses coordinated all that.”
Although Shailza and her family are used to the isolation that comes with caring for children with complex health needs, she says they wouldn’t have got through the lockdowns without the charity’s nurses.
“They liaise with consultants, our GP, they arrange for prescription changes and delivery to us. They speed up the whole process and make sure nothing is missed.
“Sometimes you only have a tiny window of time to sort something out in between feeding, medication, toileting or sickness, and the Rennie Grove Children’s Nurses completely get that. Sarah has been in our lives forever – Riley was just eight months old when we first met – and she’s known Stanley since he was born. If I need anything at all I can quickly text the team – no small talk needed! I know they’ll call me back as soon as they can and sort out whatever it is we need.”
Shailza and her family shielded during the first lockdown. “We were very cautious as we didn’t know what we were dealing with or how it might affect the boys – especially Stanley, who has respiratory issues. But from September we started having the nurses visit us again – I couldn’t handle it any more by myself.”
At this point, Stanley was hospitalised for five days with a severe chest infection. “He was so poorly,” recalls Shailza, “dehydrated and being sick constantly.” That hospital stay was harder than usual because of Covid, and the risks and restrictions that came with it.
As well as the nurses’ support throughout lockdowns, remotely or in person as necessary, the family has more recently been able to benefit from Rennie Grove’s Play Specialist too as restrictions eased.
“That was amazing,” says Shailza, “she brought her box to our house and played stories through a speaker, acting them out with sensory toys and involving the boys in arts and crafts too. Stanley loved it – Riley slept! But it gave me chance to get on with some chores knowing they were safe, relaxed and entertained.”
Shailza and the boys are happy they’re back at school now, and the family is looking forward to doing more again.
“I’ve really missed the gym,” admits Shailza, “it’s my one chance to be myself and not just Riley and Stanley’s mum.”
Updated June 2021