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.
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.
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.
I want to personally thank my blogging friends who are writing about PACS1 today:
Another Clean Slate
Tamara (like) Camera
Cape Cod Scrapper
If you would like to add your post please click this link:
For more information on PACS1 please visit our PACS1 Families Site
YES! I am SO SO happy you’ve found your village, and that you and the other PACS1 families have been able to connect and support one another. Sharing this EVERYWHERE, and you are welcome for any little thing I’ve been able to do – this is SO important, and I hope so much that you reach your goal of getting the medical community to recognise and know to test for PACS1 🙂 The video is LOVELY. Really good job.
It’s truly a testament to your determination that you have discovered PACS1, along with the 19 other families who have a child with this diagnosis. I am going to share this post right now, because I agree that there must be so many more families out there who are wondering, searching, and hoping for an answer. They are lucky to have you spearheading this effort, because I just KNOW you are going to make progress in raising awareness and subsequently educating physicians and families about this rare syndrome.
Reblogged this on An Honest Sinner and commented:
I remember Kerri and Bridget from my early days of blogging. Kerri is an amazing mom who never, ever gave up on finding a diagnosis for her beautiful daughter. I am sharing her post here today and asking for anyone who reads it to share it, click the links, become part of a someone’s miracle. Kerri’s family got their answer and found their support. Who knows how many more people out there will benefit from this information. Shout it out loud. Over and over. Change some lives.
Kerri, I reblogged this post today. I feel so strongly about sharing this and spreading the word. It has sincerely lit a fire in my heart. I look at your beautiful Bridget and I am so relieved that you have your diagnosis and I can tell how important it is for you to help others if this is their battle as well.
Happy to be a part of this, Kerri!
I’m looking forward to writing my post today. I hope I can use that video!
I’m spreading the word all over Facebook! Everyone, everywhere!!!
I have been sharing sharing and sharing everywhere… and I pray for HOPE to reach those parents who are unaware and in need of answers. I am honored to support you and honored to be witness to your strength and perseverance in this motherhood journey, my dear friend!!
So wonderful.. I was at a party this morning and shared your post! I was with a bunch of nurses and a few docs as well as psych people… I have such admiration for the journey you have undertaken… Way to go…
What a well done video! I have shared it on Facebook. I’m so happy you found a diagnosis. I’m so happy you have found others. Your tiny little village is going to grow and grow. I am in awe of your efforts over the years to get Bridget diagnosed. You are amazing.
Kerri – mom extraordinaire.
So happy you have found some answers, and so impressed with your desire to help others find answers, too. I shared the video on facebook, and encouraged others to do the same.
Thank you. That video was done by another PACS1 parent. The kids are just adorable 🙂
I twitted and shared. Thanks for alerting us to this condition. I am sorry your daughter has this, but glad you are finding support. I will pray for her.
Thank you Mary! I really appreciate the prayers
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This is new to me. I sure will spread word. God Bless You All ALWAYS..
Thank you so much for spreading the word. If just one other family can find peace a little earlier than we did it would be wonderful
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Thank you for wanting to reach out to others out in the world. It is a beautiful thing to do 🙂
Stopping by from Tamara’s blog! Your story is amazing! I hope that other undiagnosed kids are diagnosed because of your awareness campaign!
Thank you, Ginny, for stopping by and learning more. It has been a long strange journey for sure. If we can help just one other family it will be worth it!
Kerri, you and Bridget are amazing and I am happy that you finally found a helpful piece of the puzzle. Thank you for sharing this and allowing us to help you spread the work about PACS1.
I would like to thank you for promoting and sharing this really important information. I work with special needs kids and one of the kids I know has an undiagnosed genetic disorder. Your positivity and promotion will help other parents.
Thank you so much. Please do share our story. If I can answer any questions I would be happy to!
Just so delighted that you have a diagnosis and a support network. That is awesome. Sometimes just having that tangible answer makes all the difference. I really wanted to post for you on my blog this weekend, but my nasty stomach bug has kept me pretty much off the Internet. I did share and tweet and re-tweet a bunch, though, when I did look at a screen! I will continue to share.
I owe you a post! Sorry Kerri. The flu has single handlely taken down the Smith family! Its coming, I swear.
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