Help Elise! Incurable Peutz-Jeghers
Donation protected
13. September 2017.
I have 2 little girls, and I'm a single, (trying to work) parent. I have a PhD, and work very very hard. I pride myself in setting a good example to my children, and have never asked for any handouts nor do I receive contributions from the girls father for her health. I never thought I would find myself in this position.
My youngest daughter Elise, is 4 years old, and was born healthy. She started to develop little freckles on her lips when she was 2 years old, which were very distrinctive. It looked like she had been sucking the end of a pen. Often people would ask me if I had wiped her mouth or if she had been eating chocolate!!
These freckles became much more noticable this year, and I took her to a specialist dermatologist who equally had no idea where these came from. He passed us to a genetic consultant who dismissed us, as there was no family history nor did she appear unwell. In fact she was healthy, happy & thriving!
Uncomfortable with the advice I had been given, I decided to dig a little myself. I work as an academic at a University, and I had the fortune of coming across an article written in a leading medical journal about Peutz-Jeghers syndrome. Elise seemed to present similar symptoms.
I directly contacted St. Marks hospital to seek advice from a specialist, who, upon inspection diagnosed her with Peutz-Jeghers, and took a blood sample which later confirmed she had a mutation on her STK11 gene. Meaning that she has been clinically diagnosed.
There are only 167 people in the United Kingdom with Peutz-Jeghers, it is so rare, and we still have very limited knowledge about this incurable syndrome.
Learning that your 4 year old child has a 93% lifetime risk of developing a whole range of different cancers, and will need to undergo many operations from bowel polyps removals, to later ovaries, breasts and most probably other organs too.... is something as a parent you never want to hear. Watching Peutz-Jeghers taking your childs life, bit by bit, and crippling with a whole range of incurable cancers, which will develop agressively, because she is missing part of the STK 11 gene which normally supresses tumour growth. We are devasted and heatbroken, and we are just at the start of this journey,
The funds raised will help to make my daughter Elise's life as comfortable as possible, and to help with family costs & hospital treatments.
She may not have a long life, but there are things I know can do which could help prolong her life expectancy, and to help my other daughter maintain some kind of regularity in her life.
These are:
1. Seek guidance & testing from a specialist nutritionist and review any food intolerances & allergies which make compromise her immunity, contribute to growths of the polyps, and ability for her body to function properly
2. Invest in dental pulp stem cell banking, in the hope that if there are advances in stem cell research that may help to treat any cancers she develops
3. Help towards the costs to pay privately for Elise's regular screening checks for bowel polyps and when she is older all her organs to be screened for cancer. NHS screening protocol for PJS isn't consistant with the USA or other countries.
4. Cover my loss of my income (unpaid leave) for the regular hospital stays at St. Marks London
5. Cover costs of a child minder to look after my eldest daughter while I am in hospital with my youngest.
6. Start a public awareness campaign through press releases, collaborations with clinics and engage with all media so that more parents are aware of the classic symptoms of Peutz-Jeghers.
For more information about Peutz-Jeghers click on the link at St. Marks
http://www.stmarkshospital.nhs.uk/wp-content/uploads/2014/07/Peutz-Jeghers-Syndrome-PJS.pdf
Thankyou to everyone who have read this far. This is an urgent situation as my daughter Elise will be admitted for her first camera pill endoscopy on 15. 07. 2017
Peace and Love.
Jill, Gaia & Elise xxxxxx
I have 2 little girls, and I'm a single, (trying to work) parent. I have a PhD, and work very very hard. I pride myself in setting a good example to my children, and have never asked for any handouts nor do I receive contributions from the girls father for her health. I never thought I would find myself in this position.
My youngest daughter Elise, is 4 years old, and was born healthy. She started to develop little freckles on her lips when she was 2 years old, which were very distrinctive. It looked like she had been sucking the end of a pen. Often people would ask me if I had wiped her mouth or if she had been eating chocolate!!
These freckles became much more noticable this year, and I took her to a specialist dermatologist who equally had no idea where these came from. He passed us to a genetic consultant who dismissed us, as there was no family history nor did she appear unwell. In fact she was healthy, happy & thriving!
Uncomfortable with the advice I had been given, I decided to dig a little myself. I work as an academic at a University, and I had the fortune of coming across an article written in a leading medical journal about Peutz-Jeghers syndrome. Elise seemed to present similar symptoms.
I directly contacted St. Marks hospital to seek advice from a specialist, who, upon inspection diagnosed her with Peutz-Jeghers, and took a blood sample which later confirmed she had a mutation on her STK11 gene. Meaning that she has been clinically diagnosed.
There are only 167 people in the United Kingdom with Peutz-Jeghers, it is so rare, and we still have very limited knowledge about this incurable syndrome.
Learning that your 4 year old child has a 93% lifetime risk of developing a whole range of different cancers, and will need to undergo many operations from bowel polyps removals, to later ovaries, breasts and most probably other organs too.... is something as a parent you never want to hear. Watching Peutz-Jeghers taking your childs life, bit by bit, and crippling with a whole range of incurable cancers, which will develop agressively, because she is missing part of the STK 11 gene which normally supresses tumour growth. We are devasted and heatbroken, and we are just at the start of this journey,
The funds raised will help to make my daughter Elise's life as comfortable as possible, and to help with family costs & hospital treatments.
She may not have a long life, but there are things I know can do which could help prolong her life expectancy, and to help my other daughter maintain some kind of regularity in her life.
These are:
1. Seek guidance & testing from a specialist nutritionist and review any food intolerances & allergies which make compromise her immunity, contribute to growths of the polyps, and ability for her body to function properly
2. Invest in dental pulp stem cell banking, in the hope that if there are advances in stem cell research that may help to treat any cancers she develops
3. Help towards the costs to pay privately for Elise's regular screening checks for bowel polyps and when she is older all her organs to be screened for cancer. NHS screening protocol for PJS isn't consistant with the USA or other countries.
4. Cover my loss of my income (unpaid leave) for the regular hospital stays at St. Marks London
5. Cover costs of a child minder to look after my eldest daughter while I am in hospital with my youngest.
6. Start a public awareness campaign through press releases, collaborations with clinics and engage with all media so that more parents are aware of the classic symptoms of Peutz-Jeghers.
For more information about Peutz-Jeghers click on the link at St. Marks
http://www.stmarkshospital.nhs.uk/wp-content/uploads/2014/07/Peutz-Jeghers-Syndrome-PJS.pdf
Thankyou to everyone who have read this far. This is an urgent situation as my daughter Elise will be admitted for her first camera pill endoscopy on 15. 07. 2017
Peace and Love.
Jill, Gaia & Elise xxxxxx
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