Rare Moms Making A Difference - Happy Mother's Day
MAY 12, 2017
It is an inarguable fact of life that nobody knows, has ever known, or will ever know you quite like your mother does.
Before anybody else, your mom knew what you looked and acted like, both in sickness and in health. This Mother’s Day, Rare Disease Report wants to honor a few moms that are changing the way that rare diseases are being managed. These heroes of the community have been recognized on the website before, and now it’s time to follow up on the strides they’ve made throughout the years.
Gina Szajnuk; Undiagnosed
Gina is not only a rare disease patient, she is also a mother of rare disease patients. She and her children have a rare disease. They just do not know its name. They are part of the rare and undiagnosed network. And if you think it is frustrating dealing with a rare disease, try managing a condition that has no name, no known etiology, and no known prognosis. It is physically, emotionally, and financially exhausting. However, that has not stopped Gina. As co-founder of RUN, Gina has given families with undiagnosed conditions the assistance that need to help them manage their conditions and hopeful find a diagnosis.
Below is an interview we did with Gina in which she explains that being undiagnosed is a diagnosis (until further notice).
Carrie Ostrea; Gaucher Disease
Carrie entered the rare disease community after her daughter, Hannah, was diagnosed with Gaucher disease type 2 or 3, which is a very rare and often fatal disease. When they were given the diagnosis, the doctor told Carrie and her husband that Hannah likely had about 9 months to live. Hannah brought joy and purpose to the household until her passing at the age of 3 1/2 .
Her death inspired Carrie to do more. As Carrie wrote in the eulogy to Hannah, “You taught me how to love on a level that very few get the opportunity to feel. … You taught me how to be a better mother, a fierce advocate, and a more compassionate person. Before you, I would let fear, laziness, and insecurity stop me from going after certain things in my life. But because of you, I was forced to face them head-on, and between the two of us, we were able to do some amazing things. Things that I could have never imagined I could accomplish just a few years ago. This is something that I will never let go of.”
And Carrie has not let go of those things. the Little Miss Hannah Foundation continues to help families with rare conditions and her consulting work is helping advocacy groups with their mission. It has been 7 years since Hannah’s passing, and Carrie continues to keep her promise.
Andrea Taylor; Aterial Tortuosity Syndrome
When Andrea’s son, Aiden, was 2 years old, he was diagnosed with arterial tortuosity syndrome (ATS). ATS is a genetic condition that leads to excessive growth and the elasticity of the artery walls. Patients with ATS are at extremely high risk for strokes, heart attack, aneurysm, and death. So far, Aiden has had 3 heart catherizations, several balloons, one stent, and open chested surgery to reconstruct his pulmonary artery. There are about 100 reported cases of ATS with a mortality rate of 40% by the age of 5.
When Aiden was born, there was no organization for ATS patients and very little research. Thanks to Andrea efforts, ATS Twist of Fate has brought families from around the world together and additional research has been initiated.
In the video below, Andrea talks about ATS and the some of the projects ATS Twist of Fate is involved with.
Monica Weldon; SYNGAP 1
In 2012, Weldon’s infant son was diagnoses with SYNGAP 1 after displaying developmental delay, among other symptoms. She began a blog about her experiences as the mother of a child with a rare disease, and founded the first-ever organization – Bridge the Gap – focused on the mutation. She has since quit her job as a teacher, and is now the president of that organization.
In the video below, she describes exactly what a SYNGAP mutation is:
Lisa Schill; Noonan Syndrome
Lisa Schill is the advocate and mother of her son Max, a Noonan syndrome patient.
Max and other Noonan syndrome patients suffer from heart malformations and developmental delay, among other syndromes, and the mother-and-son team have made efforts to change how rare diseases are managed at the legislative level.
Previously, in a piece for Rare Disease Report, Lisa wrote: “Franklin D. Roosevelt once said ‘Let us never forget that the government is ourselves and not an alien power over us. The ultimate rulers of our democracy are not a President and senators and congressmen and government officials, but the voters of this country.’
Do you know who your legislators are? When it comes time to vote, have you taken the time to research their position on issues that may help the treatment and research into rare diseases? Take the time to get informed.”
Christine McSherry, mother of DMD patient Jett, established the Jett Foundation to raise awareness for the disease that slowly robs people of the functionality in their muscles. In addition to advancing the science of DMD, the Jett Foundation is helping families in countless ways, from the Giving Fund to their summer camp, the foundation is transforming the lives of many DMD families.
Below is an enlightening interview with Christine, in which she explains how it is often the little things in a person’s life – things that can’t be measured in a 6-minute walk test – that can show if a drug is working or not. In this case, it was opening a beer can.
Melissa Hogan; MPS II
In 2009, Melissa's 2-year-old son, Case, was diagnosed with Hunter syndrome (MPS II), a devastating rare disorder causing severe cognitive regression, in addition to physical problems like organ damage and breathing difficulties.
Melissa moved her attention from her job as an attorney to becoming an advocate for the Hunter community. In 2011 she began a blog, SavingCase.com, to share information about Hunter syndrome and support families. Her feelings can be heard and felt in the song she wrote, “Alive,” which focuses on her son’s battle with the disease.
Melissa’s latest project is a multi-episode documentary series. Check it out at ProjectAlive.org
Jill Wood and Jonah’s Just Begun
In 2010, at 22 months old, Jill Wood’s son Jonah was diagnosed with Sanfilippo Syndrome type C. At that time, very little was known about the disease except that the disease would slowly rob Jonah of his mental and physical abilities. Jill and her husbanc decided to change that prognosis.
Shortly after the diagnosis, they established Jonah’s Just Begun. The organization has two goals: “To drive the science that will ultimately lead to a cure, and to raise awareness for all rare diseases.” Jill also helped cofound Phoenix Nest, Inc, a biotech company seeking treatments for Sanfilippo syndrome. Jill blogs about her personal experience as a mother, advocate, and citizen scientist, connecting to others through her personal story.
In the video clip below, Jill talks about the origins of Phoenix Next.