Tag Archives: PACS1

Ten Things

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Time goes by so quickly, it has been a few weeks since I took a moment to pause and remember with all the craziness going on in my life it is important to remember all the good that has happened that balances out the feelings of my life is a dumpster fire.

Bridget loved her cheerleading season, that capped off with an exhibition at Gillette Stadium with the Patriots Cheerleaders. She not only picked the song her team danced to but insisted on doing the “Lift”.

Taking some “me” time and doing some much overdue self-care

That at work we have successfully opened a second location, expanding my role in a way that keeps me not only challenged but fulfilled

That a friend who spent a year in NYC, came home and we were able to have snacks for dinner for the first time in over a year.

That Bridget went bowling with a friend and while she has the funniest and slowest technique it doesn’t matter how the ball gets down the lane, we are just thankful for the gutter guards

That there were more smiles than tears this week

That when doing a deep clean in preparation for holiday visitors, I found little pieces of my eldest and her imagination that I had forgotten about. And the amazement that even though she has been away at college for over 3 years, I am still finding the hiding places of her “treasures”.

That while I was completely unsuccessful in recreating Wing Dings from Bobby Byrnes Pub, I didn’t poison us. While they were not wing dings, they were still edible, and the onion rings came out fantastic!

That I recognized that I am in a rut, personally, may have some menopausal madness going on and have started to strategize how to get me back to where I was a year ago. I have realized that Bridget’s latest health trauma has impacted me in a way the previous one had not. I could blame that menopausal madness, but those who know me know I don’t like a pity party or to shift blame. It is up to me to put myself back together. It will take some growth, some accountability and most of all my village. Thank you for not letting me slide, for not letting me fail and for never giving up on me.

    And that is what I am most thankful for, the friendships new and old that continue to be the reason I survive this unexpected life.

    A little self-care goes a long way

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    I am horrible at self-care.

    With my eldest away at college, I am very aware of how much I took advantage of her being here. Wait, that sounds bad. I did not really take advantage, more I was spoiled by her willingness to hang out with Bridget while I went for a walk, a night out or even just running to the grocery store without Bridget tagging along.

    I am extraordinarily lucky that while my friend’s children are grown and have either left the nest or are fully independent, my friends understand that 99% of the time, if they see me that I will have Bridget with me.

    I am also lucky that while her dad is as joined at my hip as Bridget is, he does get that once in a while I need a mommy-time-out.

    It is my own fault that I have self-isolated…which brings me to how I have also neglected my own self-care. Not just by putting family and work first. Not by not prioritizing myself. But I think I might have had a little (gasp) depression over the past year. Those who know me, know I just threw up in my mouth a little bit by not only writing it out but acknowledging I may not always be able to pick myself up by my big girl panties and suck it the fuck up.

    If not depressed, I definitely allowed myself to get “old” over the past year. I’ve gained weight. I am not maintaining my nutrition and balancing the snacks like a 50+ woman should. Instead, I am acting still maintaining the diet of my 16-year-old self with access to my parent’s liquor cabinet! I have not truly exercised (other than walks that become shorter and shorter) this past year. Me, the woman in her 40’s that was running obstacle races probably could not jump rope in her 50’s.

    Somewhere along the way, I decided my gray hair was fine. That it was natural. After all, I haven’t worn makeup since it was forced upon me at my wedding 29 years ago. I have historically been a woman that is low maintenance, just some wet hair and some hair gel and I am ready to go. I even started cutting my own hair over the last year (something those of us with curls can get away with!).

    Then I saw this photo of me.

    Holy crap, I got old.

    And not in a graceful, Betty White way.

    So the other night, I took some time for some long overdue self-care. I went to an adult salon, not a chain.

    Thankfully the stylist not only took mercy on me but guided me away from looking like Elvira and inadvertently signing up to a hair commitment I could never keep. Three hours later I went from this to that.

    Photo courtesy of Michelle @ Color Me Crazy Hair Salon

    Thank you, Michelle at Color Me Crazy for rejuvenating this tired, overworked special needs mom. It was just what I needed.

    Ten Things

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    I am a firm believer that the more I recognize the good that has happened this week, the easier it is to deal with a week full of Mondays.

    And this week has been a Monday. All freaking week. It wasn’t just me, either. Everyone I talked to, from friends, coworkers, customers and Bridget’s team said their week felt like one long freaking Monday.

    Which brings me to the first thing to be grateful for

    1. That others acknowledge bad days. That when I say this has been the longest Monday, and it is Thursday they immediately get me and make me feel less alone.
    2. That my week started with brunch with two of my friends from high school. That we shared, laughed until we cried and shared the hard times. The times that in the grand scheme of things, are less than world hunger but more than noticing the milk has gone sour after your first sip of coffee. That the time went by so fast it wasn’t until we got home that we realized we forgot to take the group selfie. Again.
    3. That I’ve kept this basil plant alive. Those who cannot grow, buy their herbs from the grocery story and the fact that after multiple attempts to grow my own have failed, my Market Basket basil is alive and well.
    4. Wine, because let’s face it life is always better with Pinot Grigio.
    5. When I lost my shit last weekend after Bridget screamed she hated me (while hugging me) my husband didn’t try to fix me. Instead, he held me and said, this really sucks.
    6. That my mom is finally healthy enough to go out to dinner and ate her entire meal.
    7. That my sister-in-law read how I blame her mom for the “mothers curse” post and saw the humor (and agreed with me).
    8. That at Bridget’s IEP this week, her team were kind at keeping my expectations in check and understood my need to make Bridget as independent as possible before she leaves their school.
    9. That I have a village that remember all of Bridget’s appointments and check in to make sure I am okay. That they check in to share their own struggles so that I do not feel like I am always taking from them. That at the brunch on Sunday, they just assumed Bridget would be there and when she was not poured me a really big glass of wine and let me really relax for the first time in too long.
    10. That my week ended with mall pizza with Bridget and another best friend who didn’t care that we were at a food court. She laughed when shoe shopping for Bridget took 2.2 seconds and when we strolled the mall, she engaged with Bridget. Friends that bring Bridget out of her shell and into the world around us is priceless.

    A week full of Mondays could leave me crying in my wine. But as hard as this week was? It was also full of more than ten things that brought a lightness to my week. The friends that make this unexpected life so much easier to navigate the speed bumps life keeps putting in our way.

    What are you thankful for this week?

    When you feel defeated….

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    I was sent this meme the other day and it really put this unexpected life in perspective.

    As much as I hate, and I mean HATE in JC CAPS, how much Bridget has suffered in her 16 years, she not only survives she triumphs.

    While Bridget battles, I admit to faltering when she has to survive the shit storm. Tethered Spinal Cord just after she came off a pediatric walker? Cue the ugly tears and emergency phone call to my BFF. Going to a pre-K all school playdate where she was knocked over on the playground and I lost it and said she was going to be homeschooled. Thankfully, this was a very brief moment until sanity restored regarding my homeschooling lack of patience which was reinforced when Covid shut down the education system.

    Every 12-18m the PACS1 gift that keeps on giving creates some other storm that Bridget (and her family) will need to weather. In the past five years, Bridget has triumphed over relocating schools, Achillies tendon surgery, oral surgery and is now fighting catatonia.

    Since 2008, Bridget’s battle average is currently 100% kicking PACS1’s ass.

    My bet is on my tiny but mighty warrior.

    Not to tempt fate or anything!

    I’ll tell you a secret…

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    Shh…I want to tell all the special parents out there a secret:

    It is okay to feel guilty.

    It is okay to not always love this life we lead.

    It is okay to wish your child was typical.

    I have this friend, Jenn. Jenn is usually right. She has been since high school. A few months ago, Jenn said “Kerri it is okay to resent this life you are living.”

    Typical me, I argued that I don’t have the right to ever be upset with Bridget or this life we lead. I chose this life. I chose to save Bridget in the NICU when we lost her, then multiple admissions that first year of her life and almost every year since.

    2009

    I am the one who has subjected her to procedures and testing, both invasive and non-invasive. Trying to find a diagnosis, a cure, a treatment plan.

    2023

    Not knowing at the time, how much more I would be subjecting Bridget to in her fight against PACS1.

    2025
    2017

    This child has had more MRIs, EEGs, lab work and testing than any other person I have ever met. She has triumphed in therapies from learning to eat, to learning how to walk up the stairs. She has conquered everything PACS1 has thrown at her.

    From 2014
    To 2024

    How dare I, for one moment, even brief, resent this life she has fought so hard to live?

    Jenn said: Because you have fought alongside her every step of the way. That is why you are allowed to say fuck this, this is hard, this is unfair. Because you think it and fight anyway.

    This, my readers, is true friendship. When your friend cries alongside of you. When your friend fights alongside of you. And more importantly, when your friend calls you on your bullshit. When she lets you have the pity party, but tells you when it is time to stop feeling sorry for yourself and start admiring how far you’ve come in 16-years.

    Yes. I feel guilty all the time. I feel sad. I feel some days that I punishing Bridget not helping her.

    I think that’s normal. As long as those feelings are balanced with: I’ve got this, I will fight for her. I will never give up

    So, to you, my fellow warrior parent…listen to Jenn. It is okay to feel everything you are feeling. It does not diminish your love for your child. If anything, it proves that a parent’s love is stronger than whatever disease they are fighting.

    2025

    Because we love these children despite their difficulties, not because of them.

    So, feel whatever you are feeling. Lean on your friends and listen to them.

    As Jenn said….it makes this life so much easier.

    Ten Things of Thankful

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    There has been a lot going wrong in our lives this year, but there is so much more going on to be thankful for this week.

    1. That Bridget has a team of Doctors that care about her as a person and are not treating a disease but how that disease impacts every aspect of her life.
    2. That I have a job, a boss and a team at work that understands Bridget has to come first and allows me to work not only a flexible schedule but a remote and sometimes from the PACU schedule.
    3. That there are friends I have not kept in contact with or up to date with Bridget’s recent struggles understand that it is a me not them thing.
    4. That Jenn doesn’t need chemo.
    5. That even though I am a people pleaser and it is incredibly difficult for me to say “no” to an invite, I have become more comfortable with answering: I would love to but Bridget is having a really good day so I am going to stick with our plans for the day. And that my friends and family understand that response.
    6. That I have friends that let me ugly cry, but not wallow in self-pity.
    7. That my eldest is living her best life and while I miss her not coming home this summer, this is how it is supposed to be.
    8. That through this really difficult time, when we have to put Bridget first our marriage isn’t perfect, but it has not imploded.
    9. That when I had to remove Bridget from a retirement party, our friends didn’t judge but were compassionate and understanding
    10. That this happened for the first time in months

    Keeping Score

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    One of the most difficult things I am learning in this time of Bridget’s life is discerning what is behavioral versus what aspects of this newest disease is a mental health issue. Looking back (because it is always easier to see what I did wrong than to predict future mistakes), Catatonia began infiltrating our lives last summer.

    As with all things Bridget-itis, the small things I either missed or decided were not important or they were becoming a part of her quirky and cute nature. What I thought was behaviors over time became the tools Catatonia used to try to keep my girl in her head and take her out of our world.

    Read more: Keeping Score

    Bridget started refusing to leave the house. Going to the grocery store (one of her favorite places) became a negotiation if there wasn’t someone to stay in the car with her. Thinking it was behavioral, I made her push through when there was no other option. I didn’t realize she was having anxiety, and it was mentally painful for her to walk through those doors. Score 1 to Catatonia.

    Bridget started talking only to me at home. I thought (at first) it was funny that she would “hide” her face from her dad and whisper to me the answer to whatever he was asking. Instead of being a new behavior, she was having mental anxiety that led to select mutism. Score 2 to Catatonia.

    Bridget, while camping, refused to come to the campfire. Spent most of her time not only in the camper, but in her bunk. Bad mom moment, I kind of enjoyed the peace and quiet of camping, reading my book by the fire not having to listen to freaking Doc McStuffins on repeat. Instead, Bridget was showing the first signs of depression. Score 3 to Catatonia.

    I asked the Doctor about all of these new diagnoses. If developmentally, Bridget’s brain is 4 years old, what the freak does she have to be depressed or anxious about? Okay, honestly there was a different “f” word in there.

    Instead of reprimanding my use of adult language (perks of talking to her psychologist, they’re probably used to much worse), he gently explained that while Bridget’s mind might be 4 years-old, her body is not. Not only is her brain continuing to adapt and fight PACS1, but it is also having to deal with all the other hormonal, body and insert your teenage angst issue here concerns. Since her brain does not know how to deal with all that onslaught, it retreated into a state of catatonia.

    Taking a minute here to remind all of you that I am not a doctor and may have misunderstood or misinterpreted all the information the Doctors have thrown at us over the past 4 months. If you have any of these issues or concerns, don’t trust me. Seek medical advice from a medical professional.

    Carrying on after that short PSA. The Doctor tried to explain to me that with catatonia, depression, anxiety, select mutism and PACS1 (plus every other diagnosis Bridget has) what I am / have been afraid were behaviors I needed to help her correct, where actual mental health issues that we need to treat.

    I asked how to I make sure that I don’t inadvertently create a behavior during this time?

    I totally stumped the medical team with that one!

    Here is the dilemma, the medical team is treating Bridget the patient. They are treating all the symptoms associated with her new diseases. They are also trying to be caring and cognizant of how her illnesses now affect our lives. (FYI getting up at 6am every day to give her a med SUCKS in JC CAPS, especially on the weekends). Yet they never thought of what behaviors we might create while treating her medical issues.

    For example, what if I let Bridget not participate in grocery shopping now, while she is in crisis. What happens when she is no longer in crisis but has a learned behavior of staying in the car with dad? I guess that is okay, if he is home. But what if he is not and I have to run to the pharmacy?

    What happens if we isolate ourselves now, to protect her from all her illnesses but that leads to us never leaving the house? (Self-serving PSA–if I am stuck in this house for more than 3 days, not allowed to leave, send Pinot Grigio).

    Thankfully, this new cohort of Doctors listen and care. The advice is that if a behavior is not impacting Bridget’s life (like her increased stimming) then it is not a problem. For me not to sweat the small stuff (they are obviously new to the team). The behaviors that do impact her life (not leaving the house) is something we need to focus on. First with medication, then when she is no longer in this crisis “flight” mode, with therapy and baby steps.

    And we have begun seeing small wins. Last weekend, Bridget walked to the beach. Score 1 to Bridget.

    Today she got off the van very upset because her favorite teacher was not in school today. She verbalized it, and let me hold her until the tears were dry. Score 2 to Bridget

    Keeping score, right now catatonia is up 3-2.

    I know with time Bridget is going to kick catatonia’s ass. I am just going to have to be vigilant that once she does, there is not another behavior she has to overcome.

    If I was a betting person, I would bet on my girl. She has never let me down before.

    Dear Bridget

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    Last week this memory popped up on my Facebook feed and I had no idea what I had written way back in 2013.

    I searched and found this post where I was trying to explain to a four-year-old Bridget (Boo back then) why she had to work so hard to make the tiniest progress and how sorry I was that I am the one that causes her the pain, procedures and therapies. Yet I never once in those four years, have I regretted one moment of this unexpected life.

    Unfortunately, for Bridget, turning 16 was not sweet. It has been nine months of struggle and after a lot of work, acquiring not one but four more diagnoses and adding more doctors to her list of specialists.

    Which brings me to this moment, where that letter to Bridget needs to be updated. *Tissue warning ahead.

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    PACS1 Day!

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    Today is PACS1 Awareness Day

    What is PACS1? The Scientific definition is: is a rare neuro-genetic disorder caused by a mutation (c.607C>T) of the PACS1 Gene. The mutation causes gastric issues, intellectual disability, speech impairment and other health concerns. PACS1 is frequently misreported, even in medical journals. In July 2020 a researcher published a study that stated there are 35 known PACS1 children in the world.

    This is why PACS1 Awareness is so important. In reality back in July 2020 there were 150 families connected through a PACS1 support group. As of today, Feb 7, 2021, there are over 165 families to celebrate PACS1 Awareness Day.

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    I’ve become an OG of CHB

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    Bridget is having a procedure that will close a hole in her heart at Boston Children’s Hospital. The other day we were here for Pre-op, almost 12 years after her first visit when we were rushed into the NICU.

    I was able to see how very far we have come in our journey have having PACS1.

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