And then I was fixed, well more a work in progress

I was asked recently about “fixing” Bridget. I was very happy Bridget wasn’t there to hear the question.

I understand that Bridget is different, but I do not want her to see different as bad or something that needs to be “fixed”. She isn’t a flat tire but a person.  Continue reading

Shhhh they can hear you

Imagine you are in the restroom at a function. You are going about your business and you hear people coming in. Not wanting to be eavesdropping you try not to listen. Then you realize they are talking about you. How you need to be fixed. You are not talking properly. You wore the wrong outfit. Gasp, you were very excited. You sit there and listen to these people who know you, but don’t understand you. You sit there in the stall but am unable to speak up for yourself.  Continue reading

We came, we shared, we joined together

I’m finding it difficult to put into writing. Go figure, here is usually where I just let it all out. Last weekend our family traveled to Virginia to meet our PACS1 family. The weekend should have been an absolute disaster. We had 14 families traveling from around the world.

One PACS1 family traveled from Australia. The trip with their 2-year old son took 36 hours and upon entering the lobby the poor thing suffered a seizure. Being PACS1 parents meant that while the dad checked in to the front desk the mom gave medication and handled the situation. I’m sure the front desk clerk almost puked in her mouth. But PACS1 parents continue on with their lives.

Another child began vomiting and had to be admitted overnight. Again, the PACS1 parents handled the situation. One stayed at Busch Gardens with the older sibling while the other parent handled the ER. Then they switched off.

The hotel messed up 5 of the 14 reservations. Again, some would have thrown their hands in the air and gone home. Not our PACS1 families. We traveled from 4 countries to be together. Three families traveled from Texas. One family drove from Michigan. Two families from New York and another two from New Jersey. A family crossed the border from North Carolina, while still another flew from Kansas. A newly diagnosed family from Ohio was lucky when one parent couldn’t make it a friend said I’ll drive with you and became our weekend photographer. Bridget met her new best friend from Tennessee. Families from the US, Canada, Australia and Spain. Oh and our family from the Cape.

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It was different than I had expected but so much more than I could have imagined.

It should have been an epic failure, but it was more awesome than I can fully describe.  Continue reading

We have enough fights, don’t make us fight you too

Dear Senator

I called your office and offered our story. You didn’t return my call so I thought I would write you this letter to introduce you to my daughter, Bridget.

 

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Bridget was born with a congenital heart defect, laryngomalacia, hypotonia, intellectual disability, Reynaud’s Phenomenon, reflux, autism and PACS1. All of these are considered pre-existing conditions. When you vote on the repeal and replacement of the Affordable Care Act, I need you to be fully informed on how your vote will effect those who without the ACA would be left to harm. Continue reading

This is an Autism Family

A parent walks into the store, dragging her child kicking and screaming as other shoppers look on.  A sibling walks into the store and says, “next time I will babysit so you can try to get the shopping done”.

A parent answers, “What time is it” for the 500th time with patience that is waning. A sibling tries to redirect the looping by distracting them with Disney Jr.

A parent tells her other child that they cannot attend the school play, because their sibling cannot handle the lights and sounds. A sibling whispers they understand while their heart is breaking. Continue reading

If we were having a glass of wine…

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.

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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

Press Release: 15 PACS1 Rare Syndrome Families from around the world meeting for first time

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 Australiamarks 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.

FOR MORE INFORMATION, PLEASE CONTACT:

Kerri Ames 

firebailey@gmail.com

Kerri’s blog: https://undiagnosedbutokay.com/

~Kerri

The life and times of Bridget’s family as they navigate an unexpected journey with a rare genetic syndrome

Yes, it’s complicated

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:

  • Once approved as permanently disabled, cease the annual application process.
  • Make durable medical equipment, therapies and treatments universal and not dependent on what State you reside in.
  • If a person is approved for a medication once, let that medication order stand.
  • Change Medicaid to a Federal program, rather than a State program, thereby covering disabled persons when they travel.
  • Cover genetic testing for any child with an unknown diagnosis.
  • Demand that Big Pharma bring down the cost of prescriptions. No one in America should have to pay $1029 (a month) for a medication that is free of cost in the U.K.
  • Cover ABA therapy for all children, not just those diagnosed with Autism.
  • Have every elected official enroll in the plan that is created, so they feel the same limits their constituents may encounter.

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.