Doctors said my baby boy had colic – now he lives with a lifelong seizure disorder and too many brain tumours to count
WHEN five-month-old Thomas Ward began screaming inconsolably on Valentine's Day in 2012, doctors told his mum Philippa that he likely had colic and might be teething.
Nine days later, 'the bottom fell out' of Philippa's world when her son was diagnosed with a genetic disorder that causes tumours to form on numerous organs, including the brain.
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Thomas is now 13 and has "more tumours than doctors can count".
His devastating condition impacts nearly every aspect of his life, causing developmental delays, terrifying three-hour seizures, and the need for a wheelchair.
Here, Philippa, 47, a communications professional from York, tells their story…
'YOU can't possibly think Thomas is having seizures, can you?'
I will never forget the response from the out-of-hours doctor when I took my then-five-month-old son to the hospital one weekend in February 2012 after he began behaving unusually, crying incessantly and making strange, jerky movements.
We were dismissed and told it was likely a simple case of colic - when a baby cries a lot but there is no obvious cause - or that he might be teething.
Unhappy with this outcome, and as the symptoms continued, a few days later I took Thomas to see our local GP.
She agreed he was behaving unusually and wrote to the paediatrician at the local hospital.
There was no indication that Thomas had a medical problem that needed to be urgently addressed, but my instincts told me otherwise.
The following day, I packed a bag, took my older son Ben to nursery and walked to A&E with Thomas.
As soon as the doctor saw him, he diagnosed Thomas with infantile spasms - a rare and damaging form of epilepsy.
He then revealed my wonderful little boy might have tuberous sclerosis complex (TSC), but he would have to be transferred to a larger hospital for an MRI scan to confirm the diagnosis.
It was a terrifying time.
February 29 is recognised around the world as Rare Disease Day, and it also happens to be the day Thomas was officially diagnosed with TSC, which causes tumours to form on the eyes, heart, kidneys, skin, lungs and brain.
My legs gave way when we found out. It felt as though the bottom had fallen out of my world.
My husband David and I learned that our son had numerous tumours on his brain and that they could cause cognitive impairment, developmental delays, behavioural problems, autism spectrum disorder, and seizures, which often cannot be adequately controlled using standard medications.
We were also told that there are no approved therapies that address the root cause of TSC, so our only care options for Thomas were various therapies, symptom-based medications and possibly surgery.
The days that followed were a blur.
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Despite an estimated one million people living with it worldwide, TSC is classified as a rare disease.
If Thomas hadn't been diagnosed with it, I'd probably never have heard of it myself.
Thomas underwent a few more tests before being discharged from hospital.
As we were leaving, the neurologist handed us a leaflet from the Tuberous Sclerosis Association (TSA) - the UK charity dedicated to helping families affected by TSC.
It felt like a strange consolation prize after receiving such a massive, life-changing diagnosis, but it became a lifeline, signposting to many of the resources and support available to us.
We also joined a newly-formed Facebook group for other parents of children with TSC, and through that met some people who have gone on to become friends.
But TSC continues to affect us every single day.
Thomas is now 13, and like many people with TSC, he experiences seizures most days.
At one point, Thomas was having up to eight seizures a day.
Today, he typically still has at least one, usually right after waking up. They can last up to three hours at a time.
He is not able to verbally communicate and has delayed motor skills. He often uses a wheelchair for outings to ensure his safety.
Thomas requires regular medical scans and monitoring to track his tumours - there are now too many on his brain to count.
He has been on numerous anti-epileptic medications, but none have fully relieved him from the exhausting seizures.
TSC has put our entire family on a rollercoaster ride.
As parents, there has been so much to learn about having a child with complex medical and developmental needs.
FAMILY IMPACT
It is especially difficult for us to witness the effect on our elder son, Ben.
By age three, he could recognise a seizure and learned to alert us if Thomas was having one.
There is nothing more heartbreaking than hearing a toddler shout: 'Seizure, seizure!'
Ben, now 15, is very aware of his brother's needs. He understands the importance of being quiet in the evenings so Thomas can sleep.
There are many activities we can't do as a family due to safety and accessibility issues.
As a young carer, Carers UK provides him with support and resources when needed.
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Despite the challenges Thomas has faced throughout his life, he remains a lovely young man with a vibrant personality and clear passions.
He is a remarkable problem solver and even though he cannot speak, he is able to communicate very effectively when he wants something.
He's a gentle and affectionate soul and a joy to be around.
Thomas' favourite foods are chips, toast and avocado - he also loves ketchup and mayonnaise.
He enjoys going on train rides, car journeys, watching YouTube videos and listening to music.
His favourite person in the world is his big brother.
One of the most important things we've learned since Thomas' diagnosis is the importance of community, especially one that understands your unique circumstances.
What is tuberous sclerosis complex?
ABOUT one million people worldwide are living with tuberous sclerosis complex, and up to 11,000 are diagnosed in the UK.
It causes non-cancerous tumours to grow on the brain, as well as the eyes, heart, skin, kidneys and lungs.
These tumours, which impact the central nervous system, can result in cognitive impairment, developmental delays, behavioural problems, autism, and seizures, which often can't be controlled by standard medicines.
The condition can also cause skin abnormalities (such as patches of light-coloured or thickened skin, or red acne-like spots on the face), breathing difficulties, hyperactivity, kidney issues and a build-up of fluid on the brain.
TSC is present from birth, although it may not cause obvious problems immediately.
It is caused by changes in either the TSC1 or TSC2 gene, which are involved in regulating cell growth.
There is no cure, but medicine, surgery and educational support can help.
Many people with TSC will have a normal lifespan, although a number of life-threatening complications can develop.
These include a loss of kidney function, a serious lung infection called bronchopneumonia and a severe type of epileptic seizure called status epilepticus.
Patients may also have an increased risk of developing certain types of cancer, such as kidney cancer, but this is rare.
Source: NHS
Families impacted by serious conditions, especially rare diseases, often find themselves feeling isolated and alone in the weeks and months following a diagnosis.
We are hugely fortunate to have our own family close by, and they are a great support to us, as is the wider TSC community around the UK and beyond.
Since Thomas' diagnosis, I have done everything in my power to advocate for TSC awareness.
I took part in the Great North Run to raise money for the TSA, have spoken at conferences and awareness events, shared our family's story with my workplace, and advocated for the TSC community within the NHS.
There are a number of messages that I hope people take away from our family's story.
Firstly, research for rare diseases like TSC is critical.
While only between 3,700 and 11,000 people in the UK are diagnosed with TSC, each of these diagnoses impacts everyone in the patient's life.
'On constant alert'
Having a treatment for TSC would be amazing. Thomas' frequent seizures require everyone in our house to be on constant alert.
It's not easy, but Thomas is a wonderful young man, and he makes it all worthwhile.
We remain hopeful that there will one day be a treatment that can improve Thomas' quality of life - and ours.
I also want to remind parents of children with TSC, or any rare disease, of the importance of living in the present.
When your child is diagnosed with a condition like TSC, it's understandable to ask: Why does my child have this disease? What will our future look like?
We immediately begin grieving the child we thought we would have.
I still don't fully understand why Thomas has TSC, but David and I are able to find tremendous joy in our lives with our son every day.
The best things we can do are keep him safe, meet him where he is, help him enjoy life, and love every part of who he is.
I look forward to the day when Thomas and others with TSC can access safe and effective treatment options.
Until then, I am committed to making the world more inclusive and understanding.
When it might not be colic
ALL babies cry, but one may have colic if they cry for more than three hours a day, three days a week for at least one week.
It may also be colic if, while they are crying:
It's hard to soothe or settle your baby
They clench their fists
They go red in the face
They bring their knees up to their tummy or arch their back
Their tummy rumbles or they're very windy
Colic is common, affecting up to 40 per cent of babies, and it usually stops by the time babies turn three or four months old.
But there are other reasons your baby may be crying. These include: hunger, a dirty nappy, wind, reflux and constipation.
Call NHS 111 or see a GP if:
You're worried about your baby's crying
Your baby has colic and nothing seems to be working
You're finding it hard to cope
Your baby is not growing or putting on weight as expected
Your baby still has symptoms of colic after 4 months of age
Go to A&E or call 999 if:
Your baby has a weak or high-pitched cry
Your baby's cry does not sound like their normal cry
You know better than anyone else what your child is usually like.
Trust your instincts if you think something is seriously wrong, particularly if they have other worrying symptoms.
Source: NHS
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