Alex’s Story

At eleven weeks old, Alex was diagnosed with a tumour as old as he was, it had grown in utero very early on in pregnancy. Here his mum describes their journey.

Alex in a paddling pool

Alex in a paddling pool

Alex* was born naturally following a healthy pregnancy. Once born he was noted to have swelling to the right side of his face and his eye wouldn’t open as a result, this could be explained as a result of his position during the latter stages of pregnancy. Alex cried a small cry and breast fed beautifully. We stayed in hospital for 24 hours with no concerns at all. He slept a lot but fed well, his cry was as quiet as a mouse. As any new mum does, I gazed at my beautiful baby all day, during those wonderful periods I kept seeing a cleft lip which magically disappeared within a second or two but enough to make me check and double check each time I saw it. I’m confident in my knowledge of newborns as a result of my work and told myself it was the gas and air distorting my perceptions. We waited for the paediatrician to do the routine new baby check before going home, we’d had the newborn hearing screen, no clear response from the left side could be obtained, the likely explanation being a wet ear and we’d repeat the screen a week later. The paediatrician diagnosed a facial palsy on the left side (accounted for my fleeting impressions of a cleft lip), stridor to explain his small cry, and a heart murmur, not forgetting the failed hearing screen that now looked like it was caused by more than a wet ear. I was heartbroken for the future of my baby and predicting the syndrome that surely must explain this collection of symptoms. I was swiftly moved into a side room for my own dignity and waited for a consultant paediatrician to visit and liaise with a neonatologist in a large teaching hospital. Fontanel ultra sound was suggested along with a raft of investigations but thankfully the neonatologist put a halt to that and suggested we go home with the expectation that the problems would resolve in the coming weeks. Our local consultant paediatrician planned to review Alex at three weeks old in the outpatient department.

My anxiety levels were high, however I had a three year old at home who needed his mum and was looking forward to crawling races with his baby brother so life had to carry on as normal. Alex failed the second newborn hearing screen and was referred to audiology. I do not believe in coincidences and was feeling frustrated when I was constantly reassured that he would be fine. Alex behaved like a very premature baby in his first few weeks of life; he slept for 23 hours a day and needed rousing for feeds. A visit to the GP about his tiredness reassured us that his heart murmur had resolved (it was later heard at 18 months old when unwell) but she was clearly worried. Alex’s cry was so frail that we struggled to hear him down the baby monitor. As the swelling on his right side reduced, the facial palsy on the left became more evident especially when he cried or attempted to squint in strong light.

Comments about Alex’s appearance were made from a very early age by strangers and well meaning friends who I guess were trying to be light hearted about the situation. The comments included “he’s winking like a dirty old man” or he looks like “pop eye”. Strangers would glibly comment “he’s winking at me” or that’s half a smile”, not realising that no amount of tickling would get them a full smile. As parents we cried when thinking that one day Alex would have to cope with his peers at school making the same tactless or cruel comments. Alex’s cry became stronger but with it the noise that he made was different to the cry of other babies, “he sounds like a donkey” was how one person described it, the best way to imagine it is as geese in flight when they are calling to each other.

Alex cried a lot. I recognised the symptoms of silent reflux at two weeks old, Alex was only properly sick once or twice with the reflux but mostly it was hours of regurgitation evidenced by the noise and effort of repeated swallowing, smell of vomit and distress. I asked the paediatrician to prescribe something for acid reflux which he did. Alex then experienced the start of constipation and the reflux was not responding to treatment, he dropped two centiles on his weight chart. His GP was really supportive and saw him weekly to manage the constipation with medication. Eventually we trialled a new medication and the difference was remarkable. Alex stopped crying in distress. Alex smiled later than most babies because he was in constant pain but within several days of this new treatment he smiled his beautiful smile for the first time.

At six weeks of age Alex was referred by the paediatrician to an otolaryngeal ENT specialist who ‘likes interesting babies’. A small camera was inserted down his nostril and a left vocal cord palsy was evident along with gastro oesophageal reflux, despite Alex not having fed for three hours, regular medication and having been sat upright all that time in a car seat. A further palsy affecting the vagus nerve had also been diagnosed to explain the reflux and constipation that continues to be problematic at times even now that Alex is aged two, despite medication continuing.

The outcome of the audiology investigations showed moderate hearing loss but at the uppermost threshold in the left ear, it was suggested that this was conductive but the specialist also queried a sensori neural cause of the loss. We were offered a routine MRI scan under general anaesthetic for the purpose of possibly diagnosing a small cyst in the ear that could explain the facial palsy and the hearing loss, leaving the vocal cord paralysis as a coincidence. With some soul searching given the perceived risks of anaesthetic we agreed to proceed.

At six weeks old Alex also began some asymmetrical ‘bicycling’ movements with his legs when crying and at nappy change times. Alex’s left leg was taking a bit of ‘warming up’ to join in with the bicycling movements of the right. Alex was seen by the very busy on call GP who told me I was being anxious, most babies had a subtle difference and there was nothing to worry about. His parting shot though was that his niece was three months old when eventually she was diagnosed as having cerebral palsy. At this point I thought he was reading my mind, yes I did now think Alex had a major disorder affecting lots of aspects including gross motor skills, but why tell me this after minimising my observation?

At eleven weeks old Alex had a routine MRI under general anaesthetic, two hours later a paediatrician broke the news that Alex had ‘brain cancer’ and needed urgent evaluation at a specialist hospital. Within two hours every emotion possible wracked its way through our minds and bodies. I will be honest and say a small feeling of elation even occurred because as shocking as that devastating news was, we now had a diagnosis and a plan to look at all of the symptoms together and view Alex as a ‘whole baby’ not just a collection of individual symptoms listed by an overly anxious mum. After a two hour ambulance journey we were admitted to the neurosurgical ward at the closest specialist hospital. We were all housed in a side room; multiple entourages of doctors examined Alex and interviewed us. Alex quietly breastfed for most of the time to make up for the starvation incurred as a result of the earlier anaesthetic. Due to repeat MRI scans and a CT he was to spend three out of the next four days starving which seemed particularly cruel given that he was started on steroids that gave him a voracious appetite. Thankfully I was fed on the ward like a prize dairy cow and provided with an equally commercial dairy-like pumping and freezing facility for storing all the milk that Alex wasn’t allowed to drink prior to anaesthetics.

Alex in his pushchair

Alex in his pushchair

We were introduced to the Consultant neurosurgeon who informed us in his quiet, compassionate manner that Alex did not have ‘brain cancer’ in the way we imagined. The tumour is as old as Alex and had grown in utero very early on in the pregnancy. This was evidenced from the way that the single tumour was within the cerebellar pontine angle region of the brain, wrapped around the brainstem and also outside the skull as a result of the skull plates fusing, thus giving the single tumour two parts. The impression being that the tumour was slow growing and likely to be benign but still growing and needed to be removed because of the disabling or worse fatal impact it would have on the basic life functions including breathing and swallowing. The operation was carried out four days after the initial diagnosis. We were told that there was a 1-in-100 chance of the operation resulting in death and 1-in-20 chance of significant problems arising from surgery, e.g. loss of ability to swallow, or stroke. The odds of continuing life with the tumour and continuing to function well were poor, so surgery was seen as a necessity to save Alex’s life. The aim of the surgery was to debulk the tumour, we were told it was not possible to remove it in its entirety, given the vulnerability of the brain stem. The second part of the tumour was in a completely different region and would not be focused on. The aim of the surgery was damage limitation and there was no expectation of improved nerve function as a result so we were to expect all the palsies to remain a problem for the duration of Alex’s life because it is likely that the nerves had never functioned normally, even in utero, given the maturity of the tumour. After 12 hours in theatre, thanks to the careful skill of the surgeon and his team, 60% of Alex’s tumour was removed. He stayed in intensive care for less than 24 hours before returning to the ward for a further week. Histology results three weeks after surgery diagnosed a mature teratoma, thankfully a rare, benign brain tumour.

Alex with his walker

Alex with his walker

Post-surgery Alex had input from a physiotherapist for support with the weakness down the left side of his body which has recovered sufficiently that now, at the age of two, the weakness is so subtle that most people wouldn’t notice. From six months old, a swallow therapist from the speech and language therapy team has been involved to assist with feeding solids and thickening fluids to aid successful drinking from a beaker, and an occupational therapist for assistance with feeding chairs and general functional advice. Alex now drinks unthickened fluids from a beaker, although drinking from an open cup is tricky and we are thickening again to reduce the rate of flow.

Alex’s hearing loss deteriorated from moderate to profound on the left side following surgery (a small price to pay in the scheme of things) and it is a mixed loss of conduction and sensori-neural. We started signing at four months old, to aid hearing and speech and language acquisition, and then the hearing impairment teaching service began working with Alex from the age of six months, three months later the audiology team fitted him with a hearing aid.

As a result of the facial palsy and the impact on the internal structures of the mouth, mild velopharyngeal insufficiency was diagnosed and as expected it has increased his risk of glue ear and infections, resulting in eight infections in six months. Unfortunately all the infections have occurred in Alex’s hearing ear so he is now prescribed prophylactic antibiotics that are working well and he’s had a much healthier 12 months, with no necessity for hospital admissions for intravenous antibiotics. The facial palsy and vocal cord palsy are impacting on the quality of the pronunciation of words (even allowing for his young age) and Alex works hard (despite the intensive input he’s had from early infancy) to speak the hundreds of words he has in his vocabulary which he signs successfully.

Alex

Alex

Alex’s eye care has been a fundamental part of his routines, his tear duct was blocked despite massage and although his eye discharges yellow gunge less often now, a tear runs down his face frequently throughout the day. He is prescribed artificial tears and post brain tumour surgery his eye closes fully when he goes to sleep, the exception being when he is unwell. Alex dislikes the sunshine and since a young baby he has worn sunglasses on a headband to protect his eye and reduce his distress when in bright light. Alex’s eyes are regularly monitored by the orthoptist and ophthalmologist.

At the age of two Alex has a happy and healthy life, the impact of problem areas are relatively mild but given the multiple aspects of Alex’s neurology that are affected, there is a degree of complexity that makes life an extra challenge for Alex and us as his parents. Periods of illness are always a worry as a result of exacerbation of facial twitching (EEG was negative for epileptic type seizures), weakness and reflux symptoms, but these settle down again following recovery. Alex’s prospects for achieving his potential are excellent. Supporting his hearing, speech and language development and self esteem will be key to him having the confidence to achieve his potential.

*Name has been changed for confidentiality reasons


Disclaimer: Please note that views expressed are person’s own and should not be considered a recommendation of particular medical treatments, therapies or surgeries. We would always advise you seek advice from a health professional with experience in facial palsy who can assess your individual needs.

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Last reviewed: 22-10-2016    ||    Next review due: 22-10-2018