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Heather Wright |
Rare Disease Day: Workout to help
others in their quest for wellness
February 18, 2015
By Peggy Kelly
Santa Paula News
Santa Paulans will have a chance to workout to help others’ in their quest for wellness the last week of February at Santa Paula Fit Fusion Family Studio where low-cost classes will benefit those with rare diseases.
The event will run from Monday, February 23 to Saturday, February 28 - National Rare Disease Day - at the studio (957 Faulkner Road, Santa Paula) where for only $5 drop ins will be able to take a class.
According to the studio’s flyer: “Let’s get together FFFAMILY and show our support for our own Heather! She’s a fighter and our inspiration, and we are behind her 100%! Please plan on bringing in all your friends and family, donate to the foundation,” and spread the word to raise awareness of the Jeans for Rare Genes Day benefiting the Global Genes Project and PTEN Foundation.
“Heather” is Santa Paulan Heather Wright who has two rare diseases, Cowden Syndrome and Lhermitte-Duclos disease, the latter often associated with the former.
Cowden Syndrome probably occurs in at least 1 in 200,000 people and is characterized by small, non-cancerous growths that are most commonly found on the skin and mucous membranes but can also occur in the intestinal tract and other parts of the body. Although largely benign, people with Cowden syndrome have an increased risk of developing several types of cancer.
Lhermitte-Duclos disease is very, very rare: there are only 222 cases that have been diagnosed since 1920. The disease is a slowly growing tumor of the cerebellum portion of the brain.
Symptoms of the disease most commonly manifest in the third and fourth decades of life, the timeframe that Heather became ill.
“Hope it’s in our genes,” is the motto of the fundraiser, which could be applied to Heather herself who has undergone various testing, treatments and surgeries, a cycle that keeps repeating.
Heather, a Santa Paula native, was first diagnosed with brain tumors July 18, 2011 and was told she had Cowden’s Syndrome (CS) several months later in October.
“My tumors are thankfully benign,” said Heather, although CS does put her at risk for benign and malignant growths.
Being diagnosed was challenging: Heather had “weird headaches, I called them the pressure headaches,” that also brought a dimming of sight, “Like someone was turning the lights down... some doctors said I had migraines,” but she became progressively worse.
She knew it was serious the day she had a CT scan at Santa Paula Hospital and the technician cheerily told her not that her physician would call with the results, but that he was waiting to see Heather at his office above the hospital complex.
“When I walked up the steps it was the longest walk in my life,” and she underwent surgery a week later.
Heather said that “Looking back” she had indicators of CS including numerous skin tags, a “huge goiter” as well as a bout of thyroid cancer in 2003.
Now, “I have good days and bad days... I sometimes have balance problems and vertigo and memory problems,” either related to the surgery and/or the nonmalignant tumors that could not be removed.
“There hasn’t been any growth,” since her surgeries of which was 13 hours long.
Heather keeps active volunteering at the Santa Paula Animal Rescue Center (SPARC) and Glen City School where her nephews are students. She is also a Santa Paula Housing Authority Commissioner and works at times as a substitute teacher.
“When my health allows I do what I can but I’m usually inundated with medical appointments,” to monitor her for cancer or for other treatment, such as a “preventative strike” hysterectomy to guard against future illnesses and, she noted, to ensure she does not pass the diseases along.
There are still no definitive answers on the likelihood of CS or Lhermitte-Duclos being genetic.
Heather said her family tree was examined closely including by a UCLA geneticist who found no family connections even distantly to the two diseases.
Global Genes Project (globalgenes.org) and PTEN (Ptenfoundation.org) are benefiting from the workout fundraiser at Fit Fusion Family Studio, the latter concentrating on Lhermitte-Duclos with the mission to educate about PTEN syndromes, provide financial support to patients, support research, and to promote awareness.
Rare Disease Day was established as a day to bring awareness to rare diseases, which in the United States are defined as conditions that affect fewer than 200,000 people. Currently, a total of about 30 million Americans are affected by almost 7,000 rare diseases.
Patient advocacy organizations in the United States and around the world observe Rare Disease Day as an opportunity to bring recognition to rare diseases and to the people affected by them. The rarity of these diseases can make it difficult for affected individuals to receive an accurate diagnosis and proper care. The theme of Rare Disease Day 2015 is “Living with a Rare Disease,” focusing on the lives of individuals with a condition as well as the families, friends, and caretakers of affected individuals whose lives are impacted by rare diseases.
Rare Disease Day 2015 is an opportunity to recognize thousands of rare diseases and to increase awareness of how these diseases impact not only the affected individuals but also the supportive people in their lives.
Heather, who regularly works out at Fit Fusion Family Studio, is excited about the upcoming fundraiser where people will work on not only their own fitness but also that of others.
“The last week in February people can come and spend $5 to buy a class and workout any day... then their name will go into a drawing,” offering a free one-month membership for two adults and two children.
“Come in and take the class you want for only $5,” said Heather who noted she is looking forward to the Fit Fusion event: “I’m excited... my purpose is to raise awareness of rare diseases,” as well as raise awareness.
Visit Heather’s blog: Hopeforheather.wordpress.com
Visit the Fit Fusion Family Studio Facebook page, www.facebook.com/FitFusionFamilyStudio/timeline or call (805) 794-2823 for more information.
