If we were having a glass of wine, I would tell you that having the flu sucks. Having the entire family have the flu sucks more. Having the entire family have the flu and you have to still be a mom….there are no words to describe how much that sucks.
The “sick” ward
If we were having a glass of wine, I would tell you that Mother Nature can kiss my Irish ass. Having a snow day in the middle of March is just not fair. Continue reading
First-Ever Conference and Gathering of Families with PACS1 Children
CONTACT: Kerri Ames firebailey@gmail.com
WHAT: First-Ever Formal Conference and Gathering of Families with Children who have Schuurs-Hoejemakers Syndrome or PACS1 Related Syndrome (PACS1)—an ultra rare genetic condition that causes developmental delays and intellectual disabilities. PACS1 children have dysmorphic features, which include distinct shape of the eyes, arched brows, a button nose, and a wide smile. The condition was first identified in 2010 in the Netherlands and reported in medical literature in 2012. Since that time, just 50 cases have been diagnosed, in 9 countries: USA, UK, Australia, Canada, Belgium, Netherlands, China, Germany, and Spain. The potential of children with PACS1 is unknown.
WHEN AND WHERE: April 28 – May 1, 2017, at the Hampton Inn-Central 718 By-Pass Road in Williamsburg, Virginia.
WHY: It is extremely difficult for families with PACS1 children to receive a diagnosis. This event—which is drawing families from the U.S.A., Canada and Australia—marks the launch of a formal network, so that when a child is diagnosed, the family is offered immediate support. Participants hope that this event will help them reach other families with as-yet-undiagnosed PACS1 kids, and to raise awareness in the scientific and medical community about PACS1 testing.
AGENDA: In Development. At least one planned session will be devoted to the challenges of raising a PACS1 child, and how best to support families. Participants welcome the opportunity to talk with the media. On Sunday, April 30, participants and guests will be meeting with Dr. Wendy Chung, a board certified geneticist at Columbia University.
HISTORY, AND ONE FAMILY’S STORY: For David and Kerri Ames of Cape Cod, the path towards this event began in 2008, when their daughter, Bridget, was born. During Bridget’s first year of life, David and Kerri made the 60 mile drive to Children’s Hospital in Boston more than 30 times, for issues including cardiac, lung, gastric reflux and neurological issues. She also had dysmorphic features. Combined, Bridget’s “symptoms” did not add up to a diagnosis. Her family was told she had an “unknown” syndrome.
Bridget received excellent care at Children’s; over the next several years, she acquired 14 pediatric specialists, a feeding specialist, physical therapists, speech therapists, augmented speech therapist, and several occupational therapists, and received a host of early intervention therapies. What she didn’t get was a specific diagnosis for her evolving collection of symptoms. No one could help David, Kerri, and Bridget’s big sister Abby understand what the future might hold for Bridget, or how best they could help her develop.
So they just called what Bridget was experiencing, “Bridgetitis” and did the best they could to treat Bridget’s symptoms, help her through a host of surgeries, encourage her progress, and live their lives. But they also continued to pursue a diagnosis, and finally, in June of 2014, when Bridget was five, she underwent EXOME genetic testing at the VMP Genetics Clinic in Atlanta, Georgia, and in October 2014 they received the PACS1 diagnosis.
Kerri had started blogging in 2012, as a way to keep her perspective and chronicle Bridget’s progress, and after they learned about PACS1, she wrote: “We were told that Bridget would never do more than sit in a corner. She has come so far, much farther than that doctor I still want to punch in the nose ever expected.” Later on, after finding other PACS1 families through Facebook, she wrote, “One mother searched for more than 13 years for an answer to what made her son unique. Why does it take so long? Why do so many families struggle and wonder and fear and remain undiagnosed? I remember being so frustrated and scared and we were diagnosed with PACS1 when Bridget was 5 years old. Imagine, for a moment, your child being a teen or in their 20’s before you were told why they fought so hard . . . I am so grateful for the PACS1 Family. Because being alone sucks. Being a part of a family does not.”
Dear Mr. President,
After an eventful first month in office, your office has determined to undertake an overhaul of our healthcare system. Specifically, you and the House Republicans want to repeal and replace the Affordable Care Act (a.k.a. Obamacare). It seems you are now realizing that dismantling the ACA is not going to be as simple as creating an Executive Order.
“Nobody knew healthcare could be so complicated“-President Trump
Actually, Mr. President, thousands of special needs parents could have told you that. If only you had asked.
It’s complicated when a child in Dallas can not receive the same healthcare services as a child in Boston.
It’s complicated when a parent has to complete an application for Medicaid, every year, so that her disabled child can continue to participate in the program.
It’s complicated when a family determines where they will reside based on the healthcare their disabled child will receive.
It’s complicated when your teenager in New Jersey needs diapers and insurance will not cover them, but if only they lived in California the insurance would cover the expense.
It’s complicated when a child has been on the same medication for five years, yet every year the doctor has to complete a prior authorization form proving his patient still needs the medication.
It’s complicated when one insurance company covers ABA therapy, but another one doesn’t.
It’s complicated when an insurance company covers one body part/diagnosis per life-time, yet a disabled child will fall down the stairs more than once when learning to walk.
It’s complicated when we have insurance through our employer, yet we have to pay additionally out of pocket for Medicaid for our children to receive care.
It’s complicated when a parent has a medically complex child and has to fight the healthcare system for their child to succeed.
It’s complicated when your child needs to see an orthopedic but needs to see two doctors for approval before the appointment can be made.
It’s complicated when a child who needs a wheelchair is only eligible at minimum every five years for replacement.
Yes, Mr. President, our healthcare system is complicated. Only those who have never had to access it’s programs are naive enough to think otherwise.
The ACA is not perfect, Mr. President. There are many improvements that can be made to the program. For example:
Yes, Mr. President, healthcare is complicated.
The ACA is a good start. It covers preexisting conditions, a disabled child is now covered if their parent’s plan changes. It covers children to the age of 26, allowing a disabled child to be less taxing on the Medicaid system. It holds physicians accountable. It covers more screenings and preventative care.
Healthcare is complicated, Mr. President but it needs to be improved and not dismantled.
I implore you, don’t limit your team to just hearing from big Pharma and elected officials. Like yourself, they may never had to worry about having medical care covered. Listen to the true stakeholders, your primary responsibility. Listen to the American citizens who are effected by the “complicated” healthcare system, every moment of their day. Bring us onto the panel, as an active voice, so we can tell the Republican and Democratic leaders how a change will impact real people.
Yes, Mr. President, healthcare is complicated. But not more complicated than anyone could have imagined.
Just ask any parent of a child who has a disability.
I was thinking the other day about how far Bridget has come this year. Bridget tends to stay at one level and the BOOM milestone after milestone. I honestly thought this day would never happen. Continue reading
Look at this face and tell me what word would you use to describe it? Would you say retard, stupid or unintelligent? Or would you say thoughtful, beautiful and breathtaking?
(Un)Diagnosed and still okay 