Challenges, Diagnoses & Awareness.

I was just thinking about how it was a weekend of challenges – some small and some larger than they appear.

I spent half of my weekend solo parenting with Cassidy on a short trip, and the most unchallenging part of that was a Friday night pizza dinner with dear school friends and the most adorable and personable kitten I’ve ever seen. Honestly. Just look.

PACS1

PACS1

You want to eat him, right? It’s ok to admit it. I did. (admit it and not eat him)

Saturday is when it got challenging(ish). Cassidy wasn’t due back until nighttime so I was parenting solo, and parenting with anxiety, which I suppose is always a factor but with the hot and crowded restaurant situations we got ourselves into, I was slightly concerned. It was only slight, though. Maybe it’s all the talking and exploring, or maybe it’s the appearance of more light at night, and just maybe, it was the Florida trip and how I survived the most crowded place on earth, but I was ok in the end. I do feel sturdier these days, and more up to challenges. I took the kids to a benefit ice cream for breakfast event.

It was waffles a la mode with rainbow sprinkles and Lucky Charms on top.

PACS1

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On Sunday, Cassidy was back, but this time it was parenting while sick. You all know that’s no joke. And Scarlet had asked me out to breakfast to our resident sugar shack cafe in the woods, just the two of us. Then I had a birthday party. And parenting is hard enough and winter is hard enough and being sick is hard enough, and getting out of the shower or bath is hard enough.

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It can all be harder. It can all be easier. It’s experience and perspective and time and love. A whole lotta love.

Speaking of which, have you “met” Bridget yet?

Bridget is beautiful. Bridget is unique. Bridget does things her own way in her own time. Bridget is my blogging friend Kerri’s daughter, and she was recently diagnosed with the mutation PACS1. Bridget is one of TWENTY people in the WORLD with this mutation.The PACS1 parents are using Feb 7th to raise awareness so more children do not go undiagnosed like Bridget.

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I started reading Kerri’s blog Undiagnosed But Okay about two years ago, before it more recently became Diagnosed And Still Okay. They used to call it “Bridgetitis” because there was no name attached to it, until they finally got an answer after months and months of waiting. Kerri’s family found a doctor in Georgia willing to perform Exome Sequencing, where they view the patient’s DNA strand by strand, and look for abnormalities with each one. After several years of being told a slew of diagnoses for Bridget, they found one answer. PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1 or PACS1.

There was some relieving news:

1. PACS1 is not hereditary because they worried about Bridget’s sister, Abby, and the girls’ cousins.
2. PACS1 does not affect life expectancy.

From Kerri’s blog:

PACS1 does not really have “symptoms” rather there are a lot of commonalities in the children. For example:

– Widely spaced eyes and low-set ears
– Down-slanting eye corners and mild uni-brow
– Highly arched eyebrows and long eyelashes
– Round “button” nose with a flat bridge
– Wide mouth with down-turned corners
– Thin upper lip and widely spaced teeth

Other common traits that may be seen:
– Low muscle tone (“floppy baby”)
– Repetitive stimulation (similar to Autism Spectrum Disorders)
– Sensory over/under sensitivity (similar to Autism Spectrum Disorders)
– Motor planning difficulties (affects movement and coordination)
– Delayed physical and cognitive development
– Chewing and swallowing diffculties
– Digestion and/or bowel problems
– Slower growth resulting in lower height and weight
– Near-sightedness

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What can you do?

You can be aware. You can spread awareness. There is a Facebook page to “join” the event. It’s virtual, so you don’t have to leave your house. No donations are being asked for. PACS1 families are trying to get 5,000 people to join, so local hospitals will take notice. The link to the Facebook event is HERE. And look for beautiful Bridget in this video at the 40 second mark:

Kerri’s beautiful words:

“The reason Bridget (and others) have a hard time being diagnosed is that physicians are unaware the syndrome exists. What happens when you go to a geneticist is he/she will look at your child, review their history, family history and then test for 3-5 genes that “might” be causing the problem based on those three criteria. Bridget had multiple tests like this. It wasn’t until we took a leap of faith and went to a private MD where her DNA (called Exome sequencing) was viewed strand by strand. That testing showed that the PACS1 gene was mutated. Once the mutation was found they looked into the orphan disease registry and viola found the 19 other children. This is why it is so important. Most parents are unable to get the Exome sequencing performed. If we had gone through our hospital it would have to be approved by 5 scientific boards and then the insurance company. That would have added years to her journey. BUT if doctors are aware of the syndrome, they will test for PACS1 as part of their array. The leap of faith/following your instincts/fate. I always knew that Bridget had an unknown syndrome. But I was unwilling to just “wait for science to catch up”. A reader of my blog reached out and gave me the name of the doctor in GA. We thought long and hard, research the doctor, but then took a week off of work and traveled to find an answer. The answer might have been still a genetic abnormality never seen before. Instead we were given hope. So my hope with PACS1 Awareness is that a parent will never be satisfied when a doctor says they don’t know. To keep searching and never giving up on the finding an answer.”

For more information on PACS1 families, go HERE.

About Tamara

Tamara is a professional photographer at http://tamaracamera.com/, a mama of two, a writer/blogger at http://tamaracamerablog.com and a nearly professional cookie taster. She has been known to be all four of those things at all hours of the day and night. She is a very proud contributor to the book, The Mother Of All Meltdowns. http://themotherofallmeltdowns.com, as well as Stigma Fighters Anthology (volume 1), and The HerStories Project: So Glad They Told Me. She is also a proud Community Lead/QA Reader with Sway, and a regular contributor to the SoFab Food blog, and the Target Made Me Do It blog. After two cross country moves, due to her intense Bi-Coastal Disorder, she lives with her husband, daughter, son, dog, cat, and 11 chickens in glorious western Massachusetts.


Comments

Challenges, Diagnoses & Awareness. — 138 Comments

  1. Been a challenging weekend here, as well with it ending with taking Emma to urgent care for what turned out to be strep throat today. I am exhausted and remembering what being on no sleep looks like once again as she had me up pretty much all night last night. I didn’t write at all this weekend and my blog tomorrow is a draft I wrote over a week ago (was thanking god I do have drafts to fall back on), but was aware of this share and just plain forgot (no excuses). I will totally be tweeting your article, before I crash for a bit now to spread the word for Kerri though (thank you for reminding me) and just hope for a better night’s worth of sleep tonight.

    • Oh no!! Is she ok? Luckily that’s treatable, but you really have to treat it. went to a party yesterday with a cold, and the father the birthday girl was not at all afraid of my cold because his three-year-old had just had strep and the flu. Can you imagine?
      Don’t worry about the writing! It will come and we will all be here if you need a break.

      • She is slowly getting better, but doesn’t help that she is not a very good patient and when she doesn’t feel well she whines and fights taking her medicine. So, lots of battles here and not even non here yet. And we had preschool for Lily closed for bad icing this morning. So, I have had them both home, plus a puppy whining to be outside to play in the snow and ice. No I am whining here, lol! Must be contagious as the flu and strep! But thank you my friend and like I said I shared and will tweet again today at some point, too 🙂

  2. How frustrating that must have been to know something was wrong, but not know what it was. I’m glad they got their answers! Bridget looks like a cutie! I’ll head over to the Facebook event now.

    • Thank you so much, Michelle! And I really can’t imagine all of those years of not knowing. I get really worked up if my kids have a cold. Heck, I have a cold right now and I’m worked up!

  3. It’s tough when you’re in the minority and there isn’t a lot of awareness about a medical condition! That’s insane there are only 20 in the whole world! I’ll share this post far and wide!

  4. Oh wow, 20 people in the world? I’m glad that they were able to find a diagnosis given how unbelievably rare it is. I just liked their page; I hope they are able to get more awareness for PACS1.

  5. I love this so much- I love Kerri and Bridgett, and I’m SO glad they finally have answers!! Bless you for sharing this and supporting them. <3 I do hope this raises awareness and they can research more about this mutation and get it OUT there for all to KNOW about, and hopefully help more parents who don't have answers!

  6. I’m glad you’re feeling strong, Tamara. Where do I sign up for the ice cream breakfast?? I read about Bridget on Lizzi Roger’s blog. It’s great to hear more about her and this brave mom who was so tenacious as to finally get a diagnosis. Thanks for the awareness piece!

    • I wish I had given warning about the ice cream breakfast! This was the first year that the ice cream parlor participated, and the attendance was way more than they imagined.
      I’ll have to read Lizzi’s blog!

  7. Wow, I am so glad that her parents finally have answers! I can’t imagine going undiagnosed for so long but KNOWING something wasn’t right. And it sounds like you had an eventful weekend, I hope you’re feeling better. Parenting while sick is the worst. As well as getting out of warm baths and showers!

    • Right? It’s that maternal instinct to begin with, and then so many doctors knowing nothing or giving the wrong information! I would go crazy.
      I’m so glad Kerri stayed patient and got that extra sequencing done.

      Parenting while sick is a circle of parenting hell I never knew until it happened!

    • Thank you! I feel pretty great in the day. It’s at night and in the morning that I’m all congested. Very confusing, indeed. It’s spring soon, right?

  8. What an incredibly special little girl. I personally know what it’s like to go undiagnosed (and misdiagnosed) and almost cost my life so I understand this struggle of doctors wing unaware. Knowledge is definitely power. Headed over to the page and will spread the word.

  9. This is a great post Tamara, a reminder of the degrees of challenge that exist in parenting.

    I totally hear you about solo parenting anxiety (esp in crowded places!). The story about Bridget’s story. It really shows the amazing reach of blogging, how a reader recommended a doctor to Kerri, and the awareness you’re raising here.

  10. I can only imagine how hard it must be living undiagnosed but I am glad they finally got their answers! She looks like a real cutie and seems so happy. I’ll head over to Facebook now!

  11. Ed teaches a class on Saturdays in February, so I’m mostly solo parenting on those days. But Lily and Emmy are 10 and 7, so we just have fun together! They are good company. 🙂 I stopped by Kerri’s blog. What an amazing story!

  12. Bridget is just so lovely! I hear ya on the parenting solo! Hubby has been traveling quite a bit and with so many snow days here in MA the past few weeks, it makes it fun in one way and very challenging in another. I hope you are surviving our current storm! Cheers!

  13. Seems like we all have our challenges. They seem more intensified in the winter for sure. With the internet and our cyber global village, we are able to piece things together to realize a syndrome exists. Best wishes to that family and that girl is adorable!

    • It does seem intensified in the winter – really everything does!
      I love the idea of the cyber global village piecing things together.
      Bridget is very adorable, yes!

  14. I hope you’re feeling better now (though, oh man, another snow day). You’re right, Bridget sound seem like a beautiful little girl- how maddening for her family to not get any answers And it’s wonderful that you’re raising awareness. Hugs to you, Tamara!

    • I can’t tell if my cold is starting, in the middle, or ending early. I always hope for the last but it never seems to happen. Here’s hoping!
      Thanks for reading about Bridget!

  15. She must be relived to have some sort of “diagnosis” but what a struggle for the family. I absolutely love that first picture of Bridget!! It says to me “Life out loud!” and I hope she and her family always live it that way.
    Here’s to solo parenting, more snow and waffles with ice cream!

  16. Bridget is beautiful! Amazing that they were able to figure it out by DNA sequencing. My sister is a scientist and she sent me a snap chat the other day of how she extracts DNA in a test tube. My mind was blown. Thanks for spreading awareness!

  17. A rough weekend here, too – the flu in in the house. Ugh. I’m hoping to show it the door before anyone else gets it.
    So glad that you shared Bridget’s story and so happy that her family found the answers they were looking for.

    • Oh dear – the flu! It’s everywhere this year. I’m not sure I’ve seen as many people I know get it any other year. And people who have had the shot, and people who haven’t. It’s just everywhere.
      Thanks for reading about PACS1!

  18. I am glad Kerri and her family finally have a diagnosis. It took us years to figure out migraines/food intolerances with Marius and it was so frustrating.
    So glad you are feeling sturdier these days – and looks like you made it through the weekend like a boss! xo

    • Oh that is frustrating about Marius! So glad you did get answers. I’m not very good at waiting for answers, especially when there are mixed messages.
      Like a boss! I like that. I weekended like a boss.

  19. Oh bummer that you are sick – that is the worst because Mom’s are not supposed to get sick. What a sweet young lady Bridgett is. Thanks for sharing her story I had never heard of PACS1. And that kitty IS adorable – hope you feel better soon!

    • Yeah, it’s a weird cold! Not terrible at all but that makes me either think it’s still coming on and will hit me hard, OR maybe I fought it off well? I wish I knew! Usually colds are an ordeal for me.

  20. Well count me as someone who had never heard of this. Facing a foe you can’t name or don’t know anything about is always more difficult. But she looks so sweet and adorable… clearly thriving in spite of!!

    • I imagine many haven’t heard of it! I certainly haven’t. I hope Facebook and blogging is helping to spread awareness.
      She’s certainly thriving, isn’t she?

  21. YAY for your beautiful PACS1 awareness post. Sorry about the parenting solo, with anxiety and while sick though. I’m glad Cassidy’s back and hope that your week feels better (only how many more months until spring???). xo

    • Less than two! Like.. 40 days or so. That’s not so bad, right? Although in New England, sometimes spring doesn’t come until May. Wah!
      Totally inspired by your PACS1 post, by the way! xo

    • Thank you!

      And I wish I could steal you this cat. Best personality ever! It’s a boy. Not sure which you’re looking for. We have girls and I’ve heard boys are nicer but I’m sure there’s no scientific basis for that!

  22. I had no idea about the existence of the PACS1 syndrome. Thank you for writing and sharing this information.

    Solo parenting stinks and true enough there really are zero sick days if you are a parent, but those waffles with sprinkles would be almost a surefire way for me to beat any blues or sickness. I think I need one now!

  23. Solo parenting is always hard- I remember trying to keep everyone entertained and happy when Crhis would be gone for weeks and weeks – not something I miss. Now it is easier since the boys and I have so much fun together and Jordan can drive!!!
    Hope your cold is not a major one and that you feel much better soon!
    I read about Bridgette yesterday – so glad they finally have a diagnosis and at least a starting place for help.

    • Oh I totally imagine it being so much fun when the kids are older. Staying up late and eating ice cream in front of a movie!
      It’s fun(ish) now but hard. I have to be solely responsible for all baths and meals and diapers and school duty! Boo!

  24. I understand anxiety and solo parenting. I know it can be tough. Hope you get some rest. Tamara – I appreciate the awareness you are trying to raise for PACS1. Thank you.

    • What’s funny and odd is that I’m often at my strongest when solo parenting or when abroad. When I’m home and he’s home? Anxious. So weird!

      Thanks for reading!

  25. Rich was the solo parent this weekend. I was (and still am), in bed, knocked out with the flu. Three of the kids were home sick last week, and the school called today, to come get #4….misery.

  26. Some days are really better and easier than the rest. But I’m glad you made it through!! I love that ice cream on a waffle, and for breakfast? Why not! Lol.

    Thanks for sharing about Bridget because I never knew what PACS1 is and that it ever existed. I guess most people aren’t aware? It’s great that you guys have this kind of campaign to raise awareness.

  27. Thank you for sharing about PACS1. I hope the campaign is a success!

    Looks like you did great solo parenting. Ice cream is always a good solution :). Hope you got one for yourself!

    • Thank you so much! I think the campaign is going well.

      I actually didn’t get ice cream that day, can you believe it? It was just too early in the morning for me. I can totally eat ice cream for dinner, though.

  28. Oh my gosh, Bridget, is beyond adorably cute! I’m incredibly grateful for the medical care we have in the U.S. yet we sent men to the moon 45 years ago and still are in the Dark Ages medically since then from where it would seem we should be. Kerri, I’m so glad you were able to get the Exome sequencing for your little sweetie. I’m sending lots of prayers to you, Bridget and your family and will put out a shout on Twitter. Tamara, I hope you guys are getting on the mend from colds my dear! 🙂

    • You are so right! I often say that they can send people to the moon, but they can’t make kids zippers that work. Obviously I making light of it, but you are so right about our medical field!

      Thank you so much for reading and sharing!

  29. Kerri was one of my very first blogging friends – I’m so happy they have answers! As for solo parenting, I remember when I dreaded it. It’s pretty easy now, although I give all the single parents out there huge props for doing such a hard job on their own.

  30. Glad you got through your challenging weekend. Scarlet with her icecream breakfast and the kittie are seriously adorable. But, Bridget, she is beautiful! It really gives hope to see that parents and their doctor got an answer. No cure, but an answer, which is better than uncertainty.

  31. I have never heard of this, Tamara so big big kudos and thank you for sharing this with the world to raise awareness. Bridget is so beautiful and I wish her and her family well. Sending them lots of love from here.

  32. Wow. 20 people in the world? I can’t imagine how frustrating it must have been for her parents trying to get the right diagnosis. I’m glad that they finally got some answers. She’s beautiful. And parenting solo and parenting sick – two of my least favorite things! The sickness/flu this year has been unrelenting. I’ve started to come down with something again. Oy! Hope you’re feeling OK!

    • Thank you! I’m feeling okay. It’s a very weird cold, but so many of my friends have something worse.
      I can’t imagine what the family went through, and the relief upon hearing that it’s a disease that will still give her a long life!

    • Oh, thank you! You know I love to use my blog for good. That goes for all of you guys.
      You know I had never done ice cream for breakfast. I’ve done hotdogs and cookies, though! Not together.

  33. I just joined the event on facebook. I’m glad they were able to find a diagnosis for their daughter. I’m sure it was really stressful not knowing what was going on with their child.

  34. What a beautiful little girl. How hard it must have been to not have a diagnosis! I headed over and liked their page. And by the way, ice cream for breakfast is the best idea ever!

  35. I just read Kristi’s post and shared it. I am liking the Facebook page from here. Thank you for sharing that info.

    I was determined to start my day off “right” but Scarlet’s breakfast looks “righter” than honey nut cheerios and a banana.

  36. That must have been so frustrating for Bridgett’s parents – to know there was something wrong but not have doctors test her thoroughly. I’m happy they finally got a diagnoses, but wow – 20 people in the world? That’s insane. You are awesome for sharing her story.

  37. The waffles and ice cream look so good! Reading about PACS1 is very interesting. It’s so frustrating that doctors stop at “I don’t know” instead looking for other causes. It must be a relief to finally have an answer. Thank goodness they found a good doctor.

  38. I cannot believe I have never heard of PACS1 before. She is such a beautiful little girl, and as a mom I cannot imagine going back and forth with doctors and not knowing exactly what was wrong. I am glad they finally have a diagnosis. It’s always good to know what you are up against so you know how to fight back. Prayers for her and her family and thank you for sharing this!

  39. My husband’s grandpa said that the only good cat is a … well I’ll leave it at that.
    We’re a dog family and yes that’s no matter how … ahem barf hairball…”cute” cats are 🙂
    I read Kerri’s blog and have been following little miss Bridget. I am so glad that you used your blog to help promote awareness on this diagnosis!! I cannot even fathom having a diagnosis so rare as this. Kerri is one amazing momma and Bridget is as adorable as a button.

  40. Is that a bath towel photo of your little one, or a newborn baby photo?
    As for cats — we talked about eating our outside cat, Smokey, if the apocalypse ever hit. Because protein. Sadly, Smokey disappeared a few weeks ago. I’m a peace with it now. We decided that he was not lost or hurt. He was simply raptured by God — taken up into heaven while still alive. That’s the story I choose to believe of my dear Smokey.

    • Hahaha! This made my day.
      I imagine that’s exactly what happens to cats. They are part of the rapture, while they leave behind all of the dogs and humans that they find to be peons.
      RIP dear Smokey.

  41. that breakfast looks cool. My daughter would love it too.

    That is nice to spread this story of this little girl. Glad her parents are getting some medical answers now. Thanks for sharing 🙂

  42. Single parenting is tough stuff! And no one likes to get sick on top of it all. I’ve never heard of PACS1 syndrome. With only 20 diagnoses in the world, it’s easy to see how it could get missed or mis-diagnosed. Thanks for spreading awareness & I hope you feel better soon!

    • I don’t even know if my doctor has heard of it! I imagine a lot of doctors have not!
      Being sick is the pits, but I have it a lot worse this week and he’s back.

  43. You conveyed Bridget’s journey so fully and eloquently, Tamara. It’s incredible, and those of us who love Kerri love the story. Thanks for bringing such awareness.

    Yes, we all have challenges, and we can always say it could be worse. It could. But in our own worlds, whether it’s cold or heat or isolation or crowds, the challenges are tangible. Here’s to a dose of sturdy for all of us today.

  44. Parenting while sick is really NO joke. No sick days for moms, that’s for sure. I’m kind of into that cat….what a weird sentence for me!

    I LOVE TOWEL BABY DES!!!!!!!!!!!!!!!!!!!!!!!!

    Bridget is so beautiful and Kerri sounds like a gem! 20 people in the world? That’s insanely rare and I’m so glad you are bringing awareness!

    • I get it. Cats are very yucky but that particular one is not.

      Towel Baby Des is the best! And that was only taken last week. I made him look very small because he’s quite large.

  45. I’ve been doing the solo parenting gig off and on for about a year and a half now. It’s tough. Really tough. Add illness into the mix and it’s just plain miserable. My hubby was away for 3 days last week and 2 days this week. I had two major safety/crisis issues… one which resulted in accidental poisoning and landed us up in the emergency yesterday (all is well and I’ll be sharing on the blog next week).

    20 with that diagnosis! Wow! I’ll have to check out her blog. I’m interested in knowing more.

    Thanks for sharing.

    Wishing you a lovely day.
    xoxo

    • Oh no! Glad you said all is well about the emergency.
      Solo parenting is very tough. Parenting while sick is tough. I imagine that combined, it would be very bad.

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