Stuart's Story

Stuart was born at 40 weeks after a completely normal pregnancy. He was a little floppy at birth and had some difficulties feeding, but there was nothing at the time to suggest that his life was going to take a very different path from that of other children.

As the months passed, however, it became clear that Stuart was developing much more slowly than other babies his age. He was late to hold his head up, sit and roll over. By 18 months he was showing little interest in walking, and our GP recognised that this wasn’t typical and referred us to a paediatrician.

Not long afterwards, Stuart had his first seizure. At the time it was thought to be a febrile seizure, something relatively common in young children. But the paediatrician noticed some fine motor difficulties and jerky movements and referred us to a neurologist.

That was the beginning of a very long journey.

The search for an answer

Over the following years, Stuart underwent an extraordinary number of investigations. There were blood and urine tests, MRI scans and even a bowel biopsy. We were looking for an explanation for his developmental difficulties, seizures, feeding problems and unusual movements, but nothing seemed to provide an answer.

Stuart had several more seizures, often when he was unwell. At three years old he had two seizures in one day and was admitted to hospital with pneumonia. Looking back, we now think he was probably aspirating.

An EEG showed a spike-and-wave pattern during sleep and Stuart was started on Epilim. The jerking and twitching at night continued, so Lamotrigine was introduced, but it didn’t suit him and had to be stopped. We were then referred to dieticians to consider the ketogenic diet. A pre-treatment EEG showed no seizures, so that was abandoned too. That was a particularly low point for me.

Despite all the investigations, there was still no diagnosis.

The doctors had ruled out many of the serious conditions they were looking for, including Batten disease, Angelman syndrome, Refsum disease and Fragile X syndrome. Cerebral palsy was also considered but didn’t seem to fit, although Stuart dragged his left foot when walking and often held his left arm in a spasm.

Eventually, just before his third birthday, Stuart started to walk. He was unsteady, but he was walking. He was making vocal sounds but had no clear words, so he was referred to a speech therapist. She quickly recognised that he had childhood apraxia of speech and difficulties coordinating movements, and he was subsequently described as having dyspraxia.

At around seven years old, many of the investigations were repeated. By then his seizures had stopped, so we were able to gradually wean him off Epilim. Once again, nothing was found.

I remember asking whether they thought it might be genetic. We were told that it probably was, but that we might never know exactly what it was.

And for a long time, that was how things remained.

Finally, an answer

Stuart’s speech gradually improved and he was able to say quite a few single words. It was clear that he understood far more than he could communicate, but he also had a significant learning disability.

Then, in his early teens, things changed again.

He developed a significant movement disorder. He would throw his head around violently and developed facial grimacing. These movements were difficult for him to live with, and once again we found ourselves looking for answers.

Some of Stuart’s classmates had received genetic diagnoses through microarray testing, so we asked for him to be referred back to a neurologist. This time we went to Great Ormond Street Hospital.

We attended the clinic for a couple of years, but still had no diagnosis and no real explanation for Stuart’s symptoms. Eventually, we insisted on seeing a geneticist.

They confirmed what we had suspected: Stuart’s condition was genetic. Further investigations were suggested, including a lumbar puncture, which showed that his dopamine level was low.

When we returned for the results, our usual consultant was away. Fortunately, we saw a young research fellow who took a particular interest in Stuart’s results. She recognised that he had a movement disorder called dystonia—a word I had never even heard before.

She recommended that we see one of her colleagues, who suggested carrying out an epilepsy panel genetic screen.

And that was when everything changed.

The test identified a FOXG1 missense variant.

After all those years of searching, Stuart finally had a diagnosis.

It was a surprise to everyone because, at the time, Stuart did not show many of the features that were considered typical of FOXG1 syndrome. He had a milder presentation, which may have contributed to how difficult it had been to identify.

The low dopamine level also didn’t appear to be typical of FOXG1. Stuart was started on levodopa, which he continues to take today. It made a remarkable difference. His posture and speech improved, and gradually the movements and facial grimacing disappeared.

Stuart today

Today, Stuart is a generally happy person, and many of his symptoms have improved with time.

He still has difficulties with speech and communication, particularly around people he doesn’t know, and he remains very vulnerable. He needs help with many aspects of personal care. He can’t brush his teeth or wash his hair independently, and everyday tasks such as buttering bread or stirring something can be difficult. He understands that money is used to pay for things, but has no real concept of its value.

He also has some ritualistic behaviours and can be very impulsive, which can be challenging to manage. His combination of speech, communication and learning difficulties has probably had the greatest impact on his quality of life.

But there is so much more to Stuart than his difficulties.

He attends an adult college and particularly enjoys gardening and being outside. He loves musical theatre, museums and art galleries—although he may hold the record for being the fastest person ever to get around an exhibition! For Stuart, it’s often the going out that matters more than the exhibition itself.

He loves going to football with his dad and brother, and he loves holidays and travelling. He enjoys socialising at college, even though he doesn’t have any close friends.

And perhaps one of the things we are proudest of is his walking. After being such a late starter, Stuart is now an amazingly good walker, and it’s something he enjoys doing with me.

He is good company.

And I wouldn’t swap him.

Living with FOXG1

Stuart lives at home with his parents. His dad takes him to and from college and enjoys taking him to football. I look after everything else.

Although Stuart needs a lot of support, he also likes to help where he can. He helps with shopping, washing, recycling and stacking the dishwasher. He is generally very willing to be helpful, and those little contributions are important to all of us.

Life with FOXG1 isn’t always easy. The ritualistic behaviours, impulsiveness, communication difficulties and learning disability can be challenging, particularly when you’re trying to support someone who can’t always tell you what they need or understand why something is happening.

But Stuart has also taught us that a diagnosis doesn’t define a person.

For many years, we searched for a name for what was happening to our son. When we finally found FOXG1, it gave us an explanation—but it didn’t change who Stuart was.

He’s still Stuart: happy, funny, sociable, determined, a great walker, a lover of holidays and football, and someone who enjoys getting out into the world.

And after everything we’ve been through, he’s still very much the person we wouldn’t swap for anyone.