Sophie Patmore - Mitochondrial Disease - Long Term Ventilation - Tracheostomy
 
 
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28/04/2011 09:41:55
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Annette's childhood friend Fliss and her friend Jenn are running for Wheels of Experience - please sponsor them!
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21/06/2013 09:38:58
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THE SOPHIE STORY - LIVING LIFE ON A VENTILATOR WITH MITOCHONDRIAL DISEASE

Sophie Patmore lives life permanently connected to a ventilator. Her muscles are profoundly weak due to an undiagnosed genetic condition, currently thought to be an extremely rare form of mitochondrial disease.

Sophie suffers from a rare form of mitochondrial disease that has made her muscles extremely weak. Because of this she has profound hypotonia which means she is very floppy. She has a tracheostomy and is permanently connected to a ventilator to help her breathe. She cannot swallow and therefore is fed through a tube directly into her tummy and at nearly three years old, her muscles are so weak that she cannot sit, crawl, walk, talk or even support her head up. She is however, the brightest toddler you could ever wish to meet! Please visit the Medical Info page for a full list of Sophie's symptoms.

Sophie developed completely normally until around three months of age when she began to squeak when she breathed (stridor) and struggled to feed - She would suck and suck on a bottle but the milk would not go down. The local GP concluded she had a virus three times before finally admitting her to hospital where she quickly became very floppy. Sophie was then transferred to St Georges Hospital for what would be the start of a rollercoaster ride of highs and lows. Sophie's full story can be found on the Sophie's Story page.

When Sophie first became poorly we didn't know what a 'Neurologist' did, we didn't know what 'Hypotonic' meant and we certainly didn't know the definition of a 'Neuromuscular Disease' or 'Myopathy'. We have spent a lot of time researching information to help us understand Sophie's illness and also how to deal with the pressures of caring for a complex special needs child. We have tried to find others with similar symptoms to Sophie who had a diagnosis in the hope of finding out what is wrong with our little girl. We hope that by creating this site and sharing our story we may be able to help other parents who find themselves in a similar situation. Please visit the Useful Links page for a list of sites that have helped us in the past.

Please feel free to browse our site and do not hesitate to contact us if you have any questions, advice or just want to chat.

Facts about Mitochondrial Disease
Mitochondrial disease is incurable.
One in every 2,000 babies born will develop a mitochondrial disease in their lifetime. Half will develop the disease before their 5th birthday.
Mitochondrial disease is nearly as common as childhood cancer.
Recent research results indicate that mitochondrial dysfunction is a large factor in degenerative disorders of aging like diabetes, heart disease, Parkinson’s and Alzheimer’s.
There is little funding to support mitochondrial disease.
New testing methods developed during the past ten years have advanced the diagnosis of some mitochondrial diseases.
Many mitochondrial disease patients go undiagnosed and, as a result, these patients and their families suffer.
It is precisely this combination of “newness” and diagnostic difficulty that works against recognition of mitochondrial disease and the finding of an effective cure.
The consequences of this genetic disorder can be devastating to those afflicted and their families.

Further Information about Mitochondrial Disease
What is Mitochondrial Disease?
Mitochondrial Disease Frequently Asked Questions
Mitochondrial Myopathies Frequently Asked Questions
Symptoms of Mitochondrial Disease


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Featured Links
Breathe On UK
Shooting Star CHASE Hospice Care for Children
Trewan Sands Childrens Trust
 

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