This blog post, written by Ceri, documents her daughter Lyla’s first three years. It was a long and scary journey with repeated hospital stays, but eventually, with a lot of persistence, a RSS diagnosis was made.
Lyla was born on 23rd December 2009 at 36.5 weeks. We first knew there was something wrong at the 12 week scan, Lyla was small for gestational age and they put my due date back a week — even though I was very sure of the dates! At the 20 week scan they noticed I had low amniotic fluid and Lyla was small with a normal head circumference. We returned to the hospital 3 times a week for CTG and a growth scan every two weeks. At 36.5 weeks Lyla was born by elective caesarean at the suggestion of our consultant.
Lyla was born with a birth weight of 1.75kgs (3lb 13oz), had very good APGAR scores (8 and 10) and was admitted to neonatal due to her small size.
Lyla was fitted with an NG tube and dextrose drip while feeding was established. After 4 days Lyla had lost 13% of her birth weight. We had a lot of midwives and some suggested we shouldn’t wake her for a feed as she will cry when she is hungry — that didn’t happen. We woke her every 3 hours and she was very disinterested in feeding. We would basically force feed expressed breast milk and top her up with SMA. When we were released Lyla weighed 1.63kgs (3lb 5oz).
For the first few weeks Lyla was fed 30mls every 3 hours but a feed would take anything up to an hour and a half — every now and then it would be 20 minutes or so and we would think it was getting better! We tried every bottle and every teat on the market and just squeezed it down when she wouldn’t suck. She was very good at looking like she was drinking but nothing would be going in!
After eight weeks of thinking it would get better we took her to the doctors for her 8 week check with a bottle to show how she was feeding, they then referred us back to the hospital to see a paediatrician.
We saw a Registrar on an outpatient basis. We explained that she would take 1.5 hours to have 20–30mls of milk and midwives/health visitors were telling us to force feed her. Lyla was diagnosed with Reflux and was given an NG tube, as well as Ranitidine and Domperidone. We then replaced half of each feed with high energy SMA. Instead of gaining weight Lyla started vomiting after each feed and this got progressively worse. They thought she may have a cow’s milk allergy and so was taken off the SMA and breast milk and given Neocate, but the vomiting didn’t stop. She even started vomiting on an empty stomach but the Registrar would not deviate from her diagnosis or recognise that the medicines prescribed weren’t helping.
We had a number of tests including brain, kidney and abdominal scans, a barium study, PH study and a sweat test for cystic fibrosis.
After 13 weeks of no progress and the vomiting increasing to the point Lyla was vomiting blood, the Registrar referred us to the in-house Reflux clinic which her Consultant managed. He suggested yet more drugs (none of which have worked to date) but also suggested genetic testing to check if there was an underlying issue and referred us to a geneticist. Shortly after this Lyla’s vomiting got worse and much more blood was coming up. We took her to A&E but were sent home with more drugs. We were so frustrated and Lyla was becoming more distressed we went back to our GP and she referred us to a new hospital for a second opinion.
We saw the gastro consultant who admitted us to do more tests and try and find out what was causing the vomiting and failure to thrive. We spent the next 5 months living in the hospital while they tried to work out what was happening. NG feeding was moved from bolus feeding to a continuous pump to see if that helped which it did for short periods of time and she would gain weight. However, as we slowly increased the volume of feeding Lyla would begin vomiting, even retching on an empty stomach until she was being sick up to 50 times an hour — all gastric juice, bile and blood! The only way to break it was to stop all milk, sedate her put her on a saline and dextrose drip for 48–72 hours — no anti-sickness drugs worked — we tried them all!
Lyla had lots more tests during our 5 months living in the hospital including an endoscopy and colonoscopy which showed a lot of lesions in her stomach but it was otherwise clear — the doctors even treated her for cyclical vomiting for a while — if she had it she would have been the youngest in the UK as children don’t normally get it until about 2–3 years — but even that didn’t stop the vomiting. They thought it could be a growth in her brain so she had a MRI scan — that was also clear. We even tried a NJ tube but she just kept retching it up and we couldn’t keep it in place.
When Lyla was six months old we saw a geneticist. The initial focus was on 3M syndrome which is significantly rarer than RSS and genetic testing had to be done through research. They did a full skeletal survey and took bloods as well as testing CGH and 11p15.
We researched IUGR and growth ourselves and identified Russell Silver Syndrome (RSS) as a potential cause of Lyla’s sickness and failure to thrive. It was the only condition we read about that made any sense at all although Lyla only fitted some of the criteria. We discussed this with the doctors but were told it couldn’t be that it would not have caused her feeding problems and they had ruled that out.
In July our consultant decided to put Lyla on TPN feeding through a surgical line as a way of getting calories into her and the right balance of nutrients. However, when increasing the surgical feed beyond a certain level Lyla started vomiting again despite no oral food intake. It was then that we were referred to the Metabolic Team at the Evelina Hospital as this might explain why milk and surgical feeding were both issues. The team at the Evelina were excellent and quickly established that there was no metabolic cause. They also suggested Russell Silver to us as a cause as Lyla had a similar appearance and history to other patients with this.
Again our doctors dismissed this diagnosis with no suggestion as to how to deal with it. Despite printing stories and pictures from various websites and making lists of the features she has and hasn’t got no one would consider RSS as the cause — we had various comments from doctors including — it can’t be Russell Silver because ‘she hasn’t had ear infections’ or ‘she hasn’t got the body asymmetry’ or ‘I know Dr Russell and he’ll tell you it’s not Russell Silver’ — My favourite!!
I contacted the geneticist and insisted on testing for MATUPD7, we took this test in September when she was 9 moths old.
We read that RSS babies need Endocrinology support and we pushed for an Endocrinology referral to GOSH to try and keep things moving forward but had to argue and really push to get one. In the end we waited for our consultant to go on holiday and got one of his colleagues to refer us in his absence.
We carried on with TPN and some occasional solid feeds until we went home. We were discharged with a homecare plan in place for the TPN. TPN wasn’t the easiest to manage , in the short time she had been on it she had 3 line infections and had to have IV antibiotics and other medicines.
Two days after being discharged in early November we were back in hospital as Lyla got sick again she had bronchiolitis, a line infection and septicaemia. Just as we thought she was recovering she had heart and lung failure, it took over 5 hours to resuscitate her and we spent the next 3 weeks in intensive care with Lyla on an oscillator. We told the doctors we think she has RSS and all meds were mixed with dextrose to ensure her blood levels stayed stable.
Although this was unrelated to the long-term issue Lyla had because she was small it affected her very badly. She had to go on an oscillator because her lungs were so bad — at the end of the first day the machines were working at their hardest and we were hours away from being flown to GOSH. Luckily they noticed a build up of fluid under her skin and she had that drained and started responding.
After 3 long weeks Lyla was woken and we were transferred back to the ward where they started to wean her off the Morphine and other drugs that she had become addicted to. It was when we were on the ward the geneticist called and said she had some news. She came to our room and said the MATUPD7 test was positive — it was Russell Silver. Finally we had some answers!
We made it home over Lyla’s 1st birthday and Christmas, it was a stressful time with the TPN but we were happy to be home. Lyla weighed 10lbs and was 45cm.
In January Lyla got another line infection and we were back in hospital. The infection was resistant to all of the antibiotics and her line had to be removed. The initial plan was to remove the line wait two days and then insert a new line. We read that a lot of RSS babies had a PEG and the gastro team agreed that this was a better way forward and started to wean her off the TPN.
While they were weaning the TPN we were replacing the calories with puréed food and high energy milk, when the line was removed she was taking enough calories to replace the TPN but wasn’t keeping her blood sugar overnight so we started to syringe feed high calorie milk to sustain her blood sugar.
On the day she was to get the PEG the surgeon came to see us and said he was only 80% sure she needed the PEG and wasn’t happy to do the surgery unless he was 95–100% sure she needed it — to which we agreed.
We were discharged and kept a food diary of all of her calorie intake and fed her about 30g every 1 ½ hours with Fortini overnight to sustain her blood sugar. This gradually increased until we were down to 7 feeds a day and Lyla’s intake was 100–120g of pureed food. This was our final prolonged stay in hospital and since February 2011 we have only had one overnight stay.
2 years on Lyla is still feeding 6 times a day, predominantly eating pureed food with the syringe. She can tolerate up to 150g a feed now and no longer holds it in her mouth without swallowing. She still needs winding regularly but is getting stronger and sometimes burp herself. We use all the standard distraction techniques to try and keep her sat still and eating, and this is much easier now we know what her favourite TV programmes and can use the V+ box! She is slowly starting to show interest in solid foods — buying foods at the supermarket and putting bits in her mouth but tires easily when chewing and has difficulty swallowing lumps so everything needs to be washed down with juice. Now she is nearly 3 we can ‘negotiate’ a little more with her which is helping. She stills needs movicol when she gets blocked up and dioralyte when has been vomiting but it is becoming less regular.
When we left hospital we were assigned an early intervention worker who has been really good a co-ordinating the different specialists Lyla needs. She regularly sees speech and language therapist, portage, community dietician, physio, OT, dentist and optician as well as the Gastro and Endocrinology teams at GOSH. We seem to have an endless series of appointments on a weekly basis but try and keep as many of them as possible despite the challenge of trying to fit them around feeds and sickness.
Thanks to the physio Lyla started walking at 22 months, she didn’t crawl as she couldn’t lift her head. She still falls and hits her head where she can’t hold herself up but is getting stronger by the day. They ordered her a small chair and table and got her tiny, supportive shoes so she could walk outside.
Lyla is yet to say her first word — just before she was two she started getting very frustrated with not being able to communicate so thanks to Mr Tumble we learnt to sign, Lyla picked this up very quickly and the frustrations seemed to pass. She has found her voice and attempts a few words and animal sounds but nothing is clear.
The OT have found her s step for the bath so she can see over the top and feel more involved and have adjusted the steps to the house so they are only 3 inches to give her independence coming in and out. They are working on an adjustment for a potty so we can start potty training. She is not able to hold herself up and falls to the bottom of all the ones we have tried!
The portage team have really helped with her development and getting her prepared for Nursery. We have attended a ‘social skills’ group weekly to help with her interaction with other children. Lyla is very cautious around small children as they tend to try and pick her up (often dropping her!) and treat her like a doll.
Lyla will be 3 in December and is due to start nursery in January which we are apprehensive about. After three months and a series of assessments Lyla has just received a full statement to support her at nursery, which means Lyla will get up 30 hours one to one support to help with her social and physical needs as well as speech and language. Without this we may not have sent her, but mentally she is definitely ready. We were asked to consider a range of settings and having looked at several different nurseries we have settled on a mainstream pre school.
In May 2012 Lyla started growth hormone and her energy and strength have improved significantly and she seems to be fighting the bugs a lot better than before — although we haven’t hit the winter yet! Lyla has really started to progress in the last 6 months and is starting to assert her independence! Despite the feeding and physical challenges we are finally starting to feel like things are settling down a bit.
Lyla is an extremely happy child and always has been, with bags of energy so she is difficult to keep up with. She loves reading, drawing and numbers, as well as going out to her regular groups each week including gymnastics and Boogaloo.