Across the miles, in a country I can only but hope to visit one day lives a dear friend. Funnily enough
Like myself Lori is a breast cancer survivor and diagnosed with Cowden's syndrome. She is also a teacher ( like me), a blogger ( like me) and yes I'm going to say it hard headed, focused and resilient ( like me!). We both have husbands who maybe though short on words have well and truly earned a place in heaven.
I wish the similarities end there but they don't. We both have children who in recent years have been through hell and back with their health. Both kids have had arteriovenous malformations, both have had thyroid issues, both have lost their favourite pet in the last twelve months. Both refuse to let their conditions define them. Meghan swims and does well at school, my daughter is determined to finish her degree.
There is one difference at the moment. Eleven year old Meghan has been diagnosed with Cowden's syndrome but the jury is still out as to whether my daughter also carries the faulty gene.
The story of Meghan Ortega is one of bravery and resilience not usually seen in an eleven year old child. Recently, a newspaper in the States published her story and with her mother's permission, I have suspended my blog this week to bring it to you.
12 SURGERIES IN 11 YEARS; LIVING WITH COWDEN'S SYNDROME
STATEN ISLAND, N.Y. -- Meghan Ortega, a Westerleigh sixth-grader, is
one of my favorite dental patients and one of my twin daughters' dearest
friends.
A graduate of PS 29, Meghan is a Principal's Honor Roll student at
Markham Intermediate School in Graniteville. She loves drama, is an avid
reader, loves to swim and has a broad smile and sunny disposition.
Meghan also happens to be one of the bravest kids I know. In her 11
years, she has had 12 surgeries. Twelve. She hurts every day, but has
learned pain is part of her life.
Meghan has a rare genetic disorder called Cowden's syndrome. Cowden's falls under the umbrella term of PTEN hamartoma tumor syndrome. The PTEN gene, which suppresses tumor growth, malfunctions, resulting in benign and malignant tumors developing all over the body.
Approximately 30 percent of children with genetic disorders die before their fifth birthday, so Meghan is fighting for her life with preventive screenings and surgery.
As her dentist, I saw firsthand one of the oral manifestations of Cowden's syndrome -- a suspicious gingival (gum) growth -- for which I referred her to an oral surgeon for biopsy and excision.
Not once did I ever hear Meghan complain.
The PTEN gene is passed on in an autosomal dominant pattern and is rare, affecting one in 200,000 people. The cancer risks are high; the lifetime breast cancer risk seems to exceed the BRCA risk, and there are significant risks for thyroid, uterine, kidney, skin, colon, and countless other malignancies.
To keep a close eye on the disease and its progression, Meghan sees doctors regularly for preventive screenings -- including biopsies.
But she is just happy that she finally has a diagnosis.
When Meghan was a baby, her parents, Lori and Felix knew something was "not right." She was chronically ill. She suffered with gastrointestinal distress well past her first birthday, and her diet had to be free of gluten, dairy, soy, dyes and preservatives. Her gallbladder was removed when she was 3 years old.
Meghan also had a lipoma taken from her back and her tonsils and adenoids removed. She had to have a complete thyroidectomy because of 19 rapidly growing abnormal nodules on her thyroid gland, three of which were deemed pre-cancerous.
The most notable of the surgical procedures for Meghan's abnormal growths were the five she had to undergo as a result of an AVM (arteriovenous malformation) in her right knee. While AVMs are not exclusive to Cowden's syndrome, there is an increased incidence in the population.
Recently she was hospitalized for a week because the medication that helped control the AVM in her knee caused damage to her GI tract and her esophagus.
She was taken off that medication and is healing, but the pain has returned to her knee.
It is one of the constant smaller battles she fights with side effects of the multiple medications she must take.
Meghan is often at a doctor's office. Barely a week goes by without at least one appointment. She waits like a champion for hours on end, because she is conditioned from years of practice.
Lori, her mom, firmly believes Meghan saved her life -- because of Meghan's diagnosis, she also was tested and confirmed positive for the PTEN gene mutation. She had surgery as well, a prophylactic double mastectomy.
In a world where we often get wrapped up in trivial annoyances, Meghan is an inspiration, a reminder that in the great scheme of things, people all around us are fighting real battles.
Although Meghan has met some great friends along the way, it is often a struggle for her to relate socially to most children, who likely have been to the doctor only once a year their whole lives.
Meghan's experience of living with Cowden's, combined with the food issues, can be isolating for her, realizing early on that talking too much about pain to her peers can also increase the isolation: It is hard for them to relate.
So she threw herself fully into support of other children and adults who have rare diseases, like the one she and her mom share.
She worked with one charity, the Global Genes Project (www.globalgenes.org) soon after she was diagnosed.
Meghan also sought a symbol for those with multiple medical issues and what developed was beautiful: A denim ribbon, a nod to the slogan, "Hope, it's in our Genes."
The first year after her diagnosis, Meghan simply wanted to hand out Denim Ribbons on World Rare Disease Day. The second year, she worked with the Student Council to organize a successful fundraiser at school.
Now, Meghan has struck up a friendship with Borough President James Oddo, who has invited her to Borough Hall several times to talk about ways she can make a difference. He has become her mentor, helping her find her voice.
This year, Meghan has organized a fundraiser to be held Sunday, Feb. 15, at Nicotra's Hilton Garden Inn in Bloomfield, to raise awareness and money for rare diseases. To help others like her, many worse off.
Her goal is to educate everyone about rare diseases in general. She is acutely aware that everyone struggles, but wishes there would be less judgment and more support. One of her pet peeves is people who say, "You don't look sick."
For more information about Meghan's journey and to support her fundraiser, please visit her blog, www.beatingcowdens.com. Tickets can be purchased at www.eventbrite.com.
http://connect.silive.com/user/Gracelynsantosdds/posts.html
Till next time...xxx
Meghan also happens to be one of the bravest kids I know. In her 11
years, she has had 12 surgeries. Twelve. She hurts every day, but has
learned pain is part of her life.Meghan has a rare genetic disorder called Cowden's syndrome. Cowden's falls under the umbrella term of PTEN hamartoma tumor syndrome. The PTEN gene, which suppresses tumor growth, malfunctions, resulting in benign and malignant tumors developing all over the body.
Approximately 30 percent of children with genetic disorders die before their fifth birthday, so Meghan is fighting for her life with preventive screenings and surgery.
As her dentist, I saw firsthand one of the oral manifestations of Cowden's syndrome -- a suspicious gingival (gum) growth -- for which I referred her to an oral surgeon for biopsy and excision.
Not once did I ever hear Meghan complain.
The PTEN gene is passed on in an autosomal dominant pattern and is rare, affecting one in 200,000 people. The cancer risks are high; the lifetime breast cancer risk seems to exceed the BRCA risk, and there are significant risks for thyroid, uterine, kidney, skin, colon, and countless other malignancies.
To keep a close eye on the disease and its progression, Meghan sees doctors regularly for preventive screenings -- including biopsies.
But she is just happy that she finally has a diagnosis.
When Meghan was a baby, her parents, Lori and Felix knew something was "not right." She was chronically ill. She suffered with gastrointestinal distress well past her first birthday, and her diet had to be free of gluten, dairy, soy, dyes and preservatives. Her gallbladder was removed when she was 3 years old.
Meghan also had a lipoma taken from her back and her tonsils and adenoids removed. She had to have a complete thyroidectomy because of 19 rapidly growing abnormal nodules on her thyroid gland, three of which were deemed pre-cancerous.
The most notable of the surgical procedures for Meghan's abnormal growths were the five she had to undergo as a result of an AVM (arteriovenous malformation) in her right knee. While AVMs are not exclusive to Cowden's syndrome, there is an increased incidence in the population.
Recently she was hospitalized for a week because the medication that helped control the AVM in her knee caused damage to her GI tract and her esophagus.
She was taken off that medication and is healing, but the pain has returned to her knee.
It is one of the constant smaller battles she fights with side effects of the multiple medications she must take.
Meghan is often at a doctor's office. Barely a week goes by without at least one appointment. She waits like a champion for hours on end, because she is conditioned from years of practice.
Lori, her mom, firmly believes Meghan saved her life -- because of Meghan's diagnosis, she also was tested and confirmed positive for the PTEN gene mutation. She had surgery as well, a prophylactic double mastectomy.
In a world where we often get wrapped up in trivial annoyances, Meghan is an inspiration, a reminder that in the great scheme of things, people all around us are fighting real battles.
Although Meghan has met some great friends along the way, it is often a struggle for her to relate socially to most children, who likely have been to the doctor only once a year their whole lives.
Meghan's experience of living with Cowden's, combined with the food issues, can be isolating for her, realizing early on that talking too much about pain to her peers can also increase the isolation: It is hard for them to relate.
So she threw herself fully into support of other children and adults who have rare diseases, like the one she and her mom share.
She worked with one charity, the Global Genes Project (www.globalgenes.org) soon after she was diagnosed.
Meghan also sought a symbol for those with multiple medical issues and what developed was beautiful: A denim ribbon, a nod to the slogan, "Hope, it's in our Genes."
The first year after her diagnosis, Meghan simply wanted to hand out Denim Ribbons on World Rare Disease Day. The second year, she worked with the Student Council to organize a successful fundraiser at school.
Now, Meghan has struck up a friendship with Borough President James Oddo, who has invited her to Borough Hall several times to talk about ways she can make a difference. He has become her mentor, helping her find her voice.
This year, Meghan has organized a fundraiser to be held Sunday, Feb. 15, at Nicotra's Hilton Garden Inn in Bloomfield, to raise awareness and money for rare diseases. To help others like her, many worse off.
Her goal is to educate everyone about rare diseases in general. She is acutely aware that everyone struggles, but wishes there would be less judgment and more support. One of her pet peeves is people who say, "You don't look sick."
For more information about Meghan's journey and to support her fundraiser, please visit her blog, www.beatingcowdens.com. Tickets can be purchased at www.eventbrite.com.
http://connect.silive.com/user/Gracelynsantosdds/posts.html
Till next time...xxx
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