Category Archives: PACS1

We can handle the truth

Dear Teacher and/or Educational Support Personnel,

You do a wonderful job of caring for our children. You nurture them. You hold a parent’s expectations in check. You challenge the child and keep the parents honest. Yet sometimes in your quest to be empathetic to our families, your kindness becomes a falsehood. Especially for parents whose child has a special need. You try to understand how difficult our life can be. You want us to focus on the positives, the milestones that are achieved and the goals that are finally captured.

You also lie like a rug. Continue reading

Simons VIP

On April 30, 2017 during our PACS1 Family gathering we were so thankful to have Dr. Wendy Chung join us for a mini-conference. Dr. Chung is a geneticist from Columbia University in NYC. She works with Simons VIP to provide families access to research opportunities, support and information.

Initially, Simons VIP focused on certain copy number variants associated with autism. They have expanded their research to include a wider variety of genetic events that cause neurodevelopmental disorders, (like PACS1).  The main goal of Simons VIP is to help provide treatment and care by identifying the genes that cause medical, cognitive and intellectual disabilities.
Continue reading

This photo….

When I look at this photo, I remember Abby telling her kindergarten class that her new sister was in the hospital (again) but she was going to be home soon.

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When I look at this photo, I remember Abby telling her first grade class that there was nothing wrong with her sister. That Bridget just threw up a lot so if you want to be near her make sure you are not wearing nice clothing. White would be a good choice because then you can use bleach. Continue reading

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

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

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

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

PACS1 Awareness Day

I love being a member of the PACS1 family. Our small group has grown from 14 families to over 40. Our most recent adoptee asked a reasonable question: “all these young children…I am wondering why it took so long to diagnose X”.  This mother has searched for over 13 years for an answer to what made her son unique.

Why does it take so long? Continue reading

Third time’s the charm, I hope

I do not consider myself an athlete. I have never pushed Bridget’s older sister to compete, join a team or do anything but follow her passion. I do wish her passion wasn’t horses or adopting every stray animal, but I have been perfectly happy not having to sit on the sidelines at some cold and rainy soccer field.

It is easy, with Bridget, not to worry about typical events in children’s lives.  We have been so busy trying to make Bridget verbal and a member of society, we can forget to expose her to normal, run-of-the-mill life experiences.  Recently her SPED teacher told me that she thinks that parents with children who have disabilities forget to do the normal childhood fun, like sledding or skiing or just playing outside.  I tried to explain that, for me, having faced failure before it makes me less likely to try again.  It is definitely easier to just let her watch her I-Pad then to continue to expose her to experiences that are going to make her cry.  Last year we tried basketball, epic fail. We tried soccer and watched our little girl happier sitting on sidelines than kicking the ball.

Yet, I do not want Bridget to sit on the sidelines of life.  My entire goal with Bridget is to make her a functional member of society. I want her playing with other children, not lost in the world of videos.  Lucky for me our town recreation department is making a concerted effort to work with Special Olympics. For the winter they offered bowling.  We talked it over and felt, well she won’t get knocked over by her teammates, let’s give it a try.

She loved it.  I mean loved it more than Fig Newtons kind of love.  She might win the World Record for slowest bowling ball down an alley, but she had so much fun!

The next day she walked into her first grade class and actually shared what happened during circle time. “I go bowling with J”. Her teacher told me that Bridget’s excitement was beyond measure. Bridget articulated her story and added to the classroom activity.  Bonus, she retained what happened and will tell anyone she comes into contact with how she went bowling.

This is something we can do as a family. Bowling is not only accessible it does not need to be adapted for Bridget to access it. Except the gutter guards, but even I would benefit from that help.

I always want to have Bridget access “typical” experiences.  Special Olympics has taught me that by exposing her to adaptive experiences first she will have much more success.

 

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I am incredibly thankful to the Sandwich Recreation Department, their partnership with Massachusetts Special Olympics and for the generosity of Ryan Family Amusements for donating the lane time to let “special” families feel typical for a few hours on a Saturday.