ype 3 Sturge Weber Syndrome
Amelie was born at full term on the 5th July 2012 following a healthy pregnancy. Up until 3 months old she was growing and developing as expected.
At 3 months old during a morning nap, we noticed that Amelie’s fingers on her left hand were twitching. It continued on and off whenever she would sleep. I was sure this wasn’t considered typical for a baby even as a first time mother and took her to see the GP the same day. We showed him videos we had taken from the morning and he agreed this seemed very unusual. He tested her for diabetes which came back clear and referred her for an urgent appointment with a paediatrician for the following day.
When Amelie woke up the next morning her whole left side was violently jerking. This involved her mouth, hand, arm, leg and foot. This became her first life threatening seizure. She was rushed to our local hospital via ambulance and we were met by the team in resuscitation. They worked tirelessly to stop the seizure but Amelie’s body was not responding. She was intubated, ventilated and blue lighted to the Evelina Children’s Hospital in London. I remember the noise, tears and feeling like my heart was being ripped out. The seizure lasted 3 hours. She spent a few days in intensive care where she continued to have seizures each requiring loading doses of rescue medication until she was established on a good dose of Anti-Epileptic medications. After 3 days she became stable enough to come off of the ventilator and after having every test possible, following an MRI scan, she was diagnosed with Structural Focal Epilepsy. She was moved to a neurological ward for a further 5 days for close monitoring and observation. After this, she was discharged home now under lots of different teams, medications and a new normal for us to adjust to.
By the age of 6 months old we noticed that Amelie was not hitting her motor milestones. She was unable to co-ordinate her movements and was very obviously neglecting her left side. By the age of 9 months Amelie was unable to roll, sit or crawl and she became increasingly frustrated. She was not successfully weaning onto solids as she struggled with mouth movements to chew and swallow. She was referred to Physio and Occupational therapy where she was then diagnosed with Hemiplegia. She continued to work with her therapists until she was 5 years old. She began having weekly input sessions at our local hospital and started to make motor achievements. By 18 months old she had learnt to crawl! She may have looked like a hopping bunny rabbit that dragged a leg but it didn’t matter to us. We were so proud of her and her determination to move.
Because Amelie continued to have such frequent seizures throughout, she spent a lot of time with hemiparesis which would cause her physical progress to regress. This was sometimes disheartening to see after the amount of effort she had put in and the long hours I spent building on it with her at home. It was Amelie’s cheeky nature, smile, willingness to carry on and try again that always carried us through and we continued to persevere. She had learnt to stand albeit very briefly but independently by 21 months old and loved to cruise around furniture. By 2 years old she started to walk almost completely unaided. Her left leg was still very noticeably weak, her foot was very markedly turned inwards and she continued to drag it. This was such a HUGE achievement for her and one we weren’t sure would come and had prepared ourselves for. I remember bursting into tears and feeling overwhelming pride in her. How our little girl who had been through so much, always had a smile on her face and just continued to amaze us time and time again.
During this time it became increasingly obvious that there were many issues around tactile defensiveness and worry. Amelie was unable to tolerate soft food textures, messy play, having ‘dirty’ hands, face or clothing. She would not wear certain materials, all labels had to be cut out or she would become distressed. The signs were present from very early on. Amelie also appeared extremely worried almost all of the time. She would not play as other children seemed to and became very attached to me. As her mother, I knew that this was not just because of the amount she had been through and that it was something more, I knew she was suffering with anxiety. When I spoke about it, I remember being told that I was overthinking and that she wasn’t even 2 yet. The OT later diagnosed Amelie with sensory processing disorder. Amelie’s consultant never (and still to this day) made me feel as though I was an over worried mother like others did – she listened and told me that I was the best judge of Amelie and praised me for being so in tune with her. Amelie went on to be diagnosed with anxiety.
When Amelie was 18 months old she begun having drop seizures. These were provoked by any and every unexpected loud noise to her. This could be from someone coughing/sneezing in the same room as her without her knowing, a cupboard shutting, car doors… any sudden noise. She would have anywhere up to 60 a day.
She wore a (pink of course!) protective helmet to help prevent her from injury but because she was only crawling at the time, it was difficult and I spent so much time just watching her and keeping her safe.
Shortly after she was 2, Amelie went back in to status epilepticus and was rushed to our local hospital. The crash team surrounded her. They put an oxygen mask on her face and were once again working relentlessly to bring it under control. I remember feeling as though the world had stopped. After a very long 2 hours, she was stable and all I did was cry tears of relief and gratitude to these people who had saved her. I cuddled Amelie and didn’t let go for a very long time. Amelie soon came round with a big smile on her face, asking us for chocolate! I knew then that this girl was sent to teach me everything I would ever need to know. The next day Amelie had her second T.I.A (Transient Ischemic attack and seizures continued. She was transferred back to the Evelina Children’s Hospital. Whilst she was there, they carried out a repeat MRI and Amelie was diagnosed with Type 3 Sturge Weber Syndrome.
Even though initially we were both scared, what is this syndrome? What does it mean for Amelie? We also felt relieved. We finally had answers to everything Amelie was going through. This is when I found Sturge Weber UK who have been an incredible source of support and knowledge ever since. I suddenly felt less alone in our journey knowing that there were others who had faced similar struggles to us, who we could relate to and understood the way we felt.
Amelie was started on Aspirin and to this day (Jan 2021) she has not had another T.I.A.
After this, Amelie was seizure free for 2 years and despite anxiety, mobility and sensory processing difficulties affecting everyday life, life seemed to be a lot easier for her.
In the term she began school in September 2016; Amelie began having drop seizures again. This time they were sporadic in nature with no trigger. She was suddenly dropping up to 60 times per day. Seizures seemed to come back with full force with new types appearing and sleep seizures becoming regular. Medications were added and taken out. Amelie still always kept her smile throughout…. And her love of chocolate!
Over the years learning and behavioural difficulties became more apparent with increased difficulties particularly in communication and understanding, she was diagnosed with Autism in July 2017 at Great Ormond Street. She struggles with many areas of her learning but has always and still does have an enthusiasm to give everything a go.
Amelie is now 8 years old and is the most caring, kind-natured, funniest and bravest little girl I have ever known. She has the ability to light up any room and her personality shines through to all who know her. We have lived and witnessed Amelie face many struggles and hurdles in her life so far but have equally watched her grow from strength to strength, even during the times when we didn’t think it would be possible.
She attends a mainstream school with full 1.2.1 support and an EHCP in place. She is not academically at the same level of her peers but she continues to work hard and make progress. She continues to have daily startle seizures and regular focal seizures. Amelie is not a candidate for surgery but we live in hope that one day we will get it right and in the meantime, we carry on together. She still struggles with mobility but can walk, run, loves to play basketball and really loves to talk!
Life with Sturge Weber Syndrome for Amelie means;
We have been to more appointments, therapy sessions, meetings, assessments, had numerous hospital admissions and more ambulance rides than I can count. We have witnessed her in a staggering amount of seizures in her short life.
Being a parent of a child with Sturge Weber has taught many valuable lessons about life. We have learnt to never let anyone place limitations; to fight for her because she is ours and we are hers. We don’t take things for granted and we laugh… a lot. We recognise and celebrate every achievement and most importantly we love.
Whilst I wish that life would be kinder to Amelie, I truly believe she is the brave, incredibly resilient, determined girl she is because of her journey and we will forever walk the Sturge Weber Syndrome path by her side. She may have Sturge Weber Syndrome but it does not have her. She is our inspiration and we are so so proud to be her parents.
