Tuberous Sclerosis Association

Run for Avery

Sam Cooke

Sam Cooke

My Story

My niece Avery was born in 2019 with a rare condition - Tuberous Sclerosis, a rare genetic condition that causes non cancerous growths to develop in different organs throughout the body. 

The early signs began when Avery was only three months old, she began to startle in her movements and it wasn't clear what the cause was. Initially Avery was prescribed anti-reflux medication however it didn't have an affect on her, in fact the movements were getting longer and around certain times of day. Following discussions with Avery's auntie (my amazing wife) and some of her colleagues within the NHS we began to suspect this could be infantile spasms, a form of epilepsy. 

Avery's mum returned to A&E and persisted to get Avery the help she needed, again being told it was just a reflex startle. Her mum battled to get Avery seen by a specialist. Eventually after three days in hospital Avery was given an MRI scan and the results changed the families lives forever.

Avery had two white matter masses on her brain - an automatic symptom of Tuberous Sclerosis. Avery was monitored for a further two days and was prescribed medication for the spasms.

Since the diagnosis Avery has been seen by numerous professionals and specialists from the Evelina Children's Hospital. Due to the Tuberous Sclerosis Avery is now on the Autism Spectrum as the illness has affected her development. She regularly has appointments with speech therapists, physiotherapists and other Health Care specialists.

Tuberous Sclerosis causes benign tumours to grow on Averys organs and throughout her body, at this stage they are benign however she has Gene 2 of the disease so there is a chance they could turn cancerous. Avery under goes regular MRI scans to monitor the growth and spread of the tumours.

As well as the epilepsy and autism caused by the disease, Tuberous Sclerosis has also caused a lesion on her left eye affecting her vision and she suffers from Wolf-Parkinson White syndrome which effects her heart rhythm. 

Despite everything this little girl has gone through in four short years she is quite possibly one of the happiest, bravest people I have ever met. She takes everything in her stride and is progressing well. Unfortunately this is a life long prognosis so the family have to take one day at a time.

I began this journey to raise awareness and money for this amazing charity back in 2020, when I was originally due to run the London Marathon. However due to Covid it was cancelled just weeks before hand. This affected me mentally and I gave up with my training and myself....I'm ashamed of that. Avery doesn't have the opportunity to give up she has to get up and battle every day, a true inspiration.

Tuberous Sclerosis is a rare genectic condition that affects approximately 1 million people worldwide. That's 0.0125% of the world's population!

TSA not only supports the research into this rare condition but also offers support to families with after care, information groups and events so that families in similar situations can network and share experiences.

Any donations that can be given would  be gratefully received by myself, Avery, her family and the Tuberous Sclerosis Association. Thank you!

#RunForAvery

***Update 31/01/23***

Avery recently had a routine MRI scan and the results were nothing short of heartbreaking. Avery has developed an aneurism which is pushing onto her brain stem. Aswell as this Avery now has six tumours on her brain as opposed to the two we were already aware of, and now has 14 growths on her kidneys. Avery underwent immediate heart scans to determine if her heart could handle surgery to remove the aneurism on her brain. Fortunately she is well enough and will be admitted to King's College Hospital for brain surgery on 06/02/23. 

💜💜💜💜

Tuberous Sclerosis Association

Raising for:

Tuberous Sclerosis Association
121%

Funded

  • Target
    £1,000
  • Raised so far
    £1,211
  • Number of donors
    38

My Story

My niece Avery was born in 2019 with a rare condition - Tuberous Sclerosis, a rare genetic condition that causes non cancerous growths to develop in different organs throughout the body. 

The early signs began when Avery was only three months old, she began to startle in her movements and it wasn't clear what the cause was. Initially Avery was prescribed anti-reflux medication however it didn't have an affect on her, in fact the movements were getting longer and around certain times of day. Following discussions with Avery's auntie (my amazing wife) and some of her colleagues within the NHS we began to suspect this could be infantile spasms, a form of epilepsy. 

Avery's mum returned to A&E and persisted to get Avery the help she needed, again being told it was just a reflex startle. Her mum battled to get Avery seen by a specialist. Eventually after three days in hospital Avery was given an MRI scan and the results changed the families lives forever.

Avery had two white matter masses on her brain - an automatic symptom of Tuberous Sclerosis. Avery was monitored for a further two days and was prescribed medication for the spasms.

Since the diagnosis Avery has been seen by numerous professionals and specialists from the Evelina Children's Hospital. Due to the Tuberous Sclerosis Avery is now on the Autism Spectrum as the illness has affected her development. She regularly has appointments with speech therapists, physiotherapists and other Health Care specialists.

Tuberous Sclerosis causes benign tumours to grow on Averys organs and throughout her body, at this stage they are benign however she has Gene 2 of the disease so there is a chance they could turn cancerous. Avery under goes regular MRI scans to monitor the growth and spread of the tumours.

As well as the epilepsy and autism caused by the disease, Tuberous Sclerosis has also caused a lesion on her left eye affecting her vision and she suffers from Wolf-Parkinson White syndrome which effects her heart rhythm. 

Despite everything this little girl has gone through in four short years she is quite possibly one of the happiest, bravest people I have ever met. She takes everything in her stride and is progressing well. Unfortunately this is a life long prognosis so the family have to take one day at a time.

I began this journey to raise awareness and money for this amazing charity back in 2020, when I was originally due to run the London Marathon. However due to Covid it was cancelled just weeks before hand. This affected me mentally and I gave up with my training and myself....I'm ashamed of that. Avery doesn't have the opportunity to give up she has to get up and battle every day, a true inspiration.

Tuberous Sclerosis is a rare genectic condition that affects approximately 1 million people worldwide. That's 0.0125% of the world's population!

TSA not only supports the research into this rare condition but also offers support to families with after care, information groups and events so that families in similar situations can network and share experiences.

Any donations that can be given would  be gratefully received by myself, Avery, her family and the Tuberous Sclerosis Association. Thank you!

#RunForAvery

***Update 31/01/23***

Avery recently had a routine MRI scan and the results were nothing short of heartbreaking. Avery has developed an aneurism which is pushing onto her brain stem. Aswell as this Avery now has six tumours on her brain as opposed to the two we were already aware of, and now has 14 growths on her kidneys. Avery underwent immediate heart scans to determine if her heart could handle surgery to remove the aneurism on her brain. Fortunately she is well enough and will be admitted to King's College Hospital for brain surgery on 06/02/23. 

💜💜💜💜