Meet Spencer from the United Kingdom.
His mother, Leanne, shares his journey beginning with her pregnancy and then navigating many WSS symptoms during the early years of his life. At seven years old, Spencer continues to knock down the challenges as he encounters them in his path and is growing into his big personality.
By: Leanne Odell, United Kingdom
Starting at Pregnancy and Birth
At my 12 week scan I had the routine blood tests offered in the UK which included the Down Syndrome test. A few days later on a Sunday a midwife arrived on my doorstep to tell my husband and I that my baby had a 1 in 5 chance of having Down Syndrome. She didn’t really explain much to us, she had made appointments for the following day at the hospital. It was all a bit of a whirlwind and I ended up having an amniocentesis, where a needle was inserted through my womb to take a sample of my baby’s blood. Which would screen for some of the common genetic abnormalities. This came back and we were told my baby had a normal male karyotype- so he didn’t have Downs Syndrome this didn’t rule out all genetic abnormalities it just screened for a few… the pregnancy carried on with regular scans and it seemed at each scan something new was picked up, short long bones, slow growth, small in size, there was mention of club foot at one time… so we were well prepared for something not being quiet right. Despite this uncertainty I had a very easy pregnancy with no other complications.
Fast forward to a growth scan at 37 weeks found I had low amniotic fluid, so I was induced the following day.
My 2nd son Spencer was born at 37 + 2 days and weighed 5lb 3oz. He was tiny but apart from that he looked all in proportion despite our fears of short limbs, he was very cute initially he started to feed sort of ok. Spencer eyes were firmly shut from when he was born and I raised these concerns that I hadn’t seen his eyes before discharge, the doctor checked his eyes and said there was nothing to worry about. The midwife during the night spotted that Spencer had a tongue tie, this was cut later that week.
Dealing with Failure to Thrive
Despite seeming to feed ok in hospital, Spencer became difficult to feed. He never really asked or cried for food, but when offered he would start to feed, then he would just pull away, give up or fall back to sleep.
Midwifes spotted early on he wasn’t putting on weight well. They were coming to the house constantly and getting me to try bottle feeding as well. Again, even on the bottle he would soon tire and give up. He was a very fussy feeder and would get upset and turn his head. Concerns were raised early on and after numerous GP, midwife and breast-feeding team appointments. My GP recommended I stopped breast feeding and purely bottle feed on a formula for reflux babies and prescribed Gaviscon. Again, this didn’t solve our problem, and it felt it only got worse, I was constantly trying to feed Spencer, one feed would roll into the next and we struggled with more than an ounce.
My GP then referred us onto a paediatrician at the hospital. Spencer was labelled as having failure to thrive. She also straight away picked up on his facial features and referred us to genetics. Spencer’s formula was changed to a high calorie formula and more reflux meds, this also didn’t help. We discussed he was borderline for a feeding tube. She changed his milk again to this time a hydrolysed formula, so would be easier for his body to break down. Spencer then caught a bad cold at 4months and what little milk I got in came back out, this was the start of the vomiting. He was admitted to hospital and diagnosed with bronchiolitis and given an ng tube. She also put him on further medication to help empty his stomach quicker.
Addressing Ptosis, Reflux and Respiratory Issues
Spencer’s eyes were still very small, they did eventually open but were like little slits and he had no crease above his eyelids and epicanthus folds. The geneticist tested for lots of conditions and ran many tests and surveys everything kept coming back normal. He was diagnosed with Bilateral Ptsosis, he had a swallow Xray which showed he was refluxing very severely, and his geneticist was struggling to find answers. After my pushing, we were then referred onto Leicester Royal s gastro team and Spencer was admitted for a 24-hour PH study to monitor his reflux. He was taken off all reflux meds. The 24 hours stay turned into a month stay in Leicester as his Sat’s became very unstable during his sleep and his oxygen levels were dropping significantly and requiring oxygen every night. We were then put under every department possible during that stay.
The respiratory team was great and carried out further studies and a sleep study. They decided to watch and wait as his oxygen levels came up on their own despite us holding our breaths at the same time. He also didn’t go blue and didn’t seem to be affecting him. Slowly as his reflux medicines got back into his system and his doses being adjusted it seemed to do the trick and we left hospital a month later with home sats monitoring for a week during his sleep.
Feeding Difficulties Continue
Spencer’s feeding was still a nightmare and despite having an ng tube it was a massive battle to get food in and keep it in. We always offered orally and then put the rest down the tube. So, feeding took over our lives. Weaning was hard as the Spencer seemed to like food and would be really interested in the first few mouthfuls and then he would clamp that mouth shut and push everything away.
It was so tough going; however, we were supported by a fantastic gastro doctor who kept me sane, and the dietician was brilliant. We all recognised that Spencer was a child who wanted to eat. His growth was incredibly slow and whatever we did, it never improved. Luckily, they came to accept Spencer was following his own growth curve and he wasn’t failing to thrive, so they gave me the confidence to stop worrying so much. He couldn’t handle the normal volumes of liquid or food.
Our dietician eventually gave us the confidence to only let Spencer eat and drink what he wanted to in the day, we had tricks on high calorie foods and melt in the mouth foods. He hated purees so it was the baby led we followed. Some meals consisted of two pieces of pasta, but as soon as I started to push food Spencer would vomit. I always kept a bowl of food next to him with snacks in in the hope something would go in. Then at night we would run his pump really slow to allow some milk in to top up his food intake. His growth curve continued at the same rate.
There were many times when Spencer got a cold or any illness that no food would stay in and he was admitted into hospital to get his vomiting and feeding settled. He would spike temperatures and had many pneumonias and chest infections. It was constant in and out of hospital stays for the first 2 years. There were many swallow studies done as it was never sure how safe Spencer’s swallow was. He was confirmed as having micro aspiration but luckily as time went on and he grew bigger and stronger we now seem to have grown out of this.
As Spencer’s feeding slowly got better under the guidance of his dietician, we went solo without his NG tube. He had had an ng tube for 19 months, so this was a massive thing for us as it was his lifeline… we had always put all his meds down his tube. We removed the tube and slowly over several months Spencer’s intake of food started to get more and more and the vomiting started to reduce.
Getting the Diagnosis
Numerous genetic tests had always drawn a blank, Spencer was put forward for the 1000 genome project to help diagnose rare genetic diseases – this unfortunately took over two years to get the results back, though a few months previous we saw a new geneticist who recognised Wiedemann-Steiner Syndrome in Spencer – she had recently diagnosed another child and spotted Spencer’s Hairy elbows and arms. I went away and read up on it and Spencer had almost all the symptoms. I joined the parent’s group, and I just knew straight away we had answers and Spencer’s diagnosis. Then, like buses in a week, both studies came back with the same diagnosis as a fault on the KMT2A gene, and Spencer had the diagnosis of Wiedemann Steiner syndrome at aged 4.5 years old.
Spencer struggled with his bowels, and he had an enlarged bowel which treated with medication and training him to get into a routine… we were able to get him properly toilet trained.
Knocking Down Challenges
Despite all of Spencer’s problems in his early life his personality grew bigger and bigger and more infectious. Everyone Spencer meets seem to be drawn into him. He is so much fun to be around, he likes to play be silly and interact with anyone willing to play. He is a confident boy who amazes me every day. He has been late to hit all his milestones and it takes so much more effort for him to learn the simplest of tasks.
I was so worried about him starting school, would he eat enough? would he make it to the toilet? would he make friends, how would he keep up with the work and learning. He has his struggles, but he seems blissfully unaware. He absolutely loves school; he has some lovely friends and is very caring.
Yes, he’s behind with his development but he’s proven to us all the way through his life that he gets there in the end…
At age 5 Spencer had corrective surgery on his droopy eyelids. We knew surgery was always on the cards and we were so worried about putting him through the operation. However, in true warrior spirit he took it all in his stride and he looks amazing and now has better vision.
Spencer has gone through so much in his little life, many hospital stays, many invasive procedures and tests, however he is a such a happy and strong little boy. He has taught us to slow down, patience, to be kind and to help others in their hour of need as so many people helped us when we needed it.
He still has big mountains to climb but we will break it down into smaller manageable sections. He makes me so proud and I’m so happy to be his mum. As Spencer has got older his health has vastly improved. He now seems to have a more normal immune system with just the usual coughs and colds, the vomiting still rears its ugly head from time to time. He has a good diet and eats well (despite some bad habits we’ve gained along the way).
Focusing on Strengths
Spencer is now 7 and in year 2 at school, he is still very short for his age and behind his pears academically. He thrives on a routine. He is progressing well with his reading and writing albeit at a slower pace. He struggles intellectually and maths and numbers are a major struggle and progress in this area is very slow.
Spencer loves being outside. His hand eye coordination is amazing he loves ANY sport with a ball. He loves music, to dance, he has great rhythm, anything to do with water, swimming. As a family we focus on his strengths, we have always found encouraging Spencer to be active will hopefully make his core strength stronger. He can run 2k and 5k park runs. He is the most loving little boy who loves to give cuddles, he is happy, he has a lot of energy, he’s thoughtful, very fun to be around and kind. He is very particular about certain things and sometimes his behaviour can be challenging but we are able to manage it at present.
We don’t have a magic ball to see what Spencer’s future holds. We just want our little boy to be independent, have all the same opportunities as others, to be happy and loved with strong family and friends around him. He has taught us to appreciate the good times and we value so much his health now.