I’m Natalie, married to Jonathan and mother to four boys: Ben seven, Ollie five, Freddie three, and Oakley 17 months.
I suppose our story with SWAN UK starts in 2011 when Ollie was born. It was apparent something wasn’t right as he was extremely floppy and had difficulty feeding. Fast forward to three months old and he was admitted for being underweight and still having feeding difficulties. We were diagnosed with a cow’s milk protein allergy and I thought that would be the end of it – he would thrive and grow now he was on the right milk. How wrong I was. At seven months old we were admitted for feeding observation. In the week he spent in hospital he lost 9oz and it became apparent that something was wrong. A decision was made to start tube feeding with a nasogastric tube. He was also referred to QMC for a PH study along with bowel and stomach biopsies. They all came back clear. Ollie has low muscle around his ankles which delayed his mobility. However, at 17 months old he walked for the first time, he had a PEG tube placed in April 2014 and has been tube-fed overnight ever since, along with eating orally during the day. Many blood tests were done and revealed that Ollie had low growth hormone levels; he clinically fits the description for Russell Silver syndrome, but his blood work does not fully match despite his growth levels being typical of a child with this syndrome. We were given a clinical ‘Russell Silver syndrome’ diagnosis.
Ollie is now five and though still small for his age he’s come such a long way. He attends mainstream school and is doing well. He still struggles with stomach bugs and colds as they can have a much bigger impact on him than a typically healthy child and he still tires very quickly, needing just that bit of extra help.
We took a risk and had another baby in 2013 and he was perfectly healthy as is our seven-year-old, Ben. Naturally, we thought Ollie was a one off. In 2015 I found I was expecting again. Knowing we had two healthy children against one not so healthy child, surely the odds of another healthy child outweighed having a non-healthy baby. Wow, how wrong I was … and so began the incredible rollercoaster of a ride with Oakley.
My pregnancy was awful from the start; it was so different from my others. I was constantly poorly with migraines and incredibly tired – more so than normal pregnancy tiredness. Both our 12 and 20 week scan showed a seemingly healthy baby, however, at 27 weeks pregnant after having good patterns of movements, the movements stopped. I went to get checked out and my blood pressure was high. I had history of preeclampsia in my first pregnancy and third. It was decided I should have a scan just to make sure everything was ok and sure enough the baby was fine, just not moving much. A week or so later I still hadn’t had movement like I previously had, so I went back and it was decided then that I would be monitored with twice weekly cardiotocography tests and scans every 14 days. We made it to 38 weeks, though we were told to be prepared to deliver from 31 weeks. Oakley was a planned c section and it was decided at 37 weeks to deliver the following week as his heart traces were becoming more sleepy – still within limits but definitely declining. We had paediatricians at the birth waiting to check him over and once he was born I felt such a mix of emotions. Was he going to be ok? He was stuck in my pelvis so had to be pulled out with forceps and upon checking him over everything seemed fine. It became apparent that things weren’t ‘fine’ quite soon as he was vomiting after every feed. I just told myself it was mucus and he was just getting it up all babies are sick right? At two weeks the vomiting was out of control he was diagnosed with cow’s milk protein allergy, a change of formula was all he needed and he would be fine. At four months old he was not fine. He had a nasogastric tube placed, he was losing weight and the vomiting, despite different reflux medication, was out of control. He was sent to Nottingham for a PH study which revealed he was refluxing approximately every two minutes and not only was he refluxing but he was aspirating too. Oakley had been plagued with chest infections from birth which we thought were due to aspiration. In June 2016 we went into QMC for a fundoplication and a button surgery. Unfortunately this landed Oakley in intensive care and it was becoming clearer that he had a much bigger fight ahead of him.
Everything that was meant to make him better seemed to be making him worse. After a few weeks of being in and out of hospital, July 2016 came and he was admitted for excessive secretions by his consultant in Lincoln. The first day or so passed in a blur and then we were sent on an emergency transfer to Nottingham where we spent 24 days trying to find an answer. Oakley seemed to be declining rapidly. His muscle tone was low, he was having absences, his stomach was blowing up and he had gone from a low toned happy baby to a baby we didn’t even know. We didn’t know what was going on and his neurologist came and sat us down.
I still remember the conversation so clearly: ‘we are incredibly worried for Oakley – he is not a well baby.’ I remember her leaving the room and thinking to myself has she really just said that? After an MRI, many bloods, nerve studies, sleep studies, oxygen on and off, no one had come to any real conclusion and we were allowed to bring him home.
We had a few more admittances for various chest infections and stomach bugs – we can’t take the risk with him as you just never know what way it’s going to go. After lots of physio and input we started to see some progress and he learnt to sit around his first birthday, and then learnt to crawl; we were made up that he was making progress.
Unfortunately it was short lived and we have come to a standstill again – no progress, no growth, no weight gain and no head growth since he was 10 months old. He’s now 17 months old.
At the beginning of March Oakley was given a wheelchair from wheelchair services to provide more supportive seating for him. After a recent admission for sickness where he spent a week in Lincoln we were discharged with oxygen. Oakley’s oxygen levels have been all over the place for as long as we can remember but he’s always managed to be borderline on sleep studies. Unfortunately this time he didn’t – he outright failed it.
He has good days and bad days and you don’t know what’s going to happen. He’s currently awaiting a muscle biopsy and possible surgery for a Jejunostomy, as his stomach is just bloating with every feed. He has nothing orally. He lost his ability to swallow properly some time ago and had an unsafe swallow to begin with and was aspirating. After recently meeting with his neurological team we discussed possible mitochondrial disease; his growth and especially his lack of head growth has become everyone’s main focus and concern now.
He has been enrolled onto the 100,000 Genomes Project and I hope that one day we won’t be living with the unknown and can help him. For the time being we take each day as it comes and are thankful for the little things.
SWAN UK has been amazing for our family especially me as there’s always someone to ask questions to or help ask for help. If you want to ask a question no matter how daft it seems I can pretty much guarantee someone will have an answer. People know how you are feeling and how isolating it can be having not just a poorly child but one who is undiagnosed. I would urge anyone in that situation to join SWAN UK – they are fantastic.