Category Archives: PACS1

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. 

 

When you don’t land where you planned

When you first enter a Children’s hospital, scared out of your wits, most likely you will see a plaque or a friend will send you the link to read the poem, Welcome to Holland by Emily Perl Kingsley. You find solace, at first. Knowing that another parent understood how you are feeling at this moment. At this moment when your child is not the one you planned but the one you must make heartbreaking decisions.  You prepared for one journey and ended up not even close to where you planned. Continue reading

Never doubt the power of parents

When I started this blog in the summer of 2012 I began a journey of discovery.  I did not know one person who was in our situation. Where you left the hospital with a brand new baby and were told they had something wrong but they did not know what it was or what it would mean for the future. It took four years of feeling alone before I discovered the world of blogging.  Then I met Kristi, another mom in a similar situation.

It would take another two years of blogging before a kind reader would lead us in the direction of a diagnosis.  We were told that Bridget had a rare syndrome, that she was the only third child discovered and the first female. Thankfully the power of social media is faster than medical research. Our family was welcomed into the PACS1 family and a brand new journey emerged.   Continue reading

Blind date

I went on a blind date this weekend. I’ve developed a relationship with someone I met online. They live a few states away. We’ve decided to finally meet midway between our states. I am nervously counting down the hours until we see one another face to face.

We are meeting in a motel parking lot and not telling anyone but our closest confidants.

Continue reading

I will always be thankful for Facebook

I have a mixed relationship with Facebook.

I hate the endless “a like means you hate cancer” (like who loves cancer?). I get frustrated at being reminded that there are such things as stupid questions (seriously people, use the search feature). I get alarmed by the bully-pulpit that develops in local politics (get involved but learn the facts before you post on a subject you have no knowledge about). And for the love of all things Holy, please do not put your personal crap on Facebook in a vague way and then ask people to respect your privacy.

Yet for all the reasons I might want to leave Facebook, I have one reason to be incredibly thankful. Continue reading

You have a diagnosis. Now what?

In February 2015 there were 19 confirmed cases of people who have PACS1 Syndrome. As more children have Exome sequencing, we have grown to 32 (known) families. In a year. Thanks to this blog, I am sometimes the first point of contact for the newly diagnosed. It is a role I cherish yet at times feel sad that I cannot provide the answers they may be looking for.

Welcome to the PACS1 family! Now what? Continue reading

Thankful to be 1 of 20

Today is the very first PACS1 awareness day. A day created by the parents of just 20 children, with the help of fellow bloggers. PACS1 is a rare genetic syndrome. So rare that there are only 20 children in the world that have been diagnosed.

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There could be more children. So much more. Sadly there are countless parents out there with children who have unknown syndromes. Unless physicians are aware of the PACS1 malformation they will not know to test for it. Unless parents know that PACS1 exist they will not be able to ask their physician to test for it.

What I am so very thankful for, today, is finding the PACS1 parent community. Together we have discovered that common therapies help our children succeed. We have discussed what has worked, what hasn’t and how our various countries create special education advances. While small, we are making a difference. Not just in our families, but in others.

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To be able to send a quick message, and be told YES we have that same issue. To be able to not feel alone.

I know, in truth, our family was never alone. We are so beyond lucky in our village. Those who are there (day/night, text/call, whatever we need). We have been surrounded by support each step of Bridget’s life.

Other are not so lucky. They do not have the resources, or the reach, to know where to look for the answers. To know that no matter what that answer is they have friends and family who will be there.

Here is why PACS1 Awareness is so important. The parents know that there are more families out there searching. When we were diagnosed in October we were told Bridget was just the third child and only girl. Based on the research from 2011 published just 3 years prior to our diagnosis.

In the three years since the original paper was published 17 other children had been diagnosed. (Research papers are not typically updated) If I hadn’t contacted the originators of the paper we might never have found our PACS1 families. We would not have known that while still considered an “orphan disease” (what they call syndromes with less than 200,000 people) we were more than 1 of 3. We are now 1 of 20. Maybe tomorrow we will be 1 of 100. I never give up hope.

Bridget’s doctor didn’t know to test for PACS1 because the research was not widely promoted. If doctors are unaware of a syndrome they cannot test for it, without performing full gene or Exome genetic testing. Without that testing we would not have found the PACS1 gene.

Sadly, most parents do not know to ask for it or how to go about getting the testing done.

If parents do not know about the possibility and if doctors do not know to test for the PACS1 malformation, more children will struggle with being undiagnosed. Undiagnosed is a difficult life for a family. We worry about early death, question what therapies to use and feel isolated.

With more awareness of PACS1 more research may be undertaken so parents will know how best to nurture their children. Please, I ask you…no beg you, share the PACS1 information with others. Join the PACS1 Awareness Day on Facebook (not a fundraiser, I promise!). Invite your friends to join you in spreading the news about this very rare syndrome.

You might just be someone’s Dr. House.

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I want to personally thank my blogging friends who are writing about PACS1 today:
Abracabadra
Considerings
Finding Ninee
Mardra Siorka
Transceding CP
Another Clean Slate
Red Boots
Tamara (like) Camera
Anna Fitfunner
Cape Cod Scrapper
Club Scrap

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For more information on PACS1 please visit our PACS1 Families Site

It’s here!

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Tomorrow is February 7th. The very first PACS1 awareness day. Feb 7th was chosen as it the day the first child was diagnosed. The first of 20 children. In the World.   The parents of children with PACS1 are speaking up and out as loud as we can so another parent does not have to undertake the same journey. So that a parent, somewhere in this big world. will get their mystery solved sooner rather than later. Continue reading