There are days and moments when I know that as a family we impede Bridget’s independence. It’s not malicious, it is just easier. All parents do this to some extent. We cut their food for much longer than we need to, we pick them up and carry them when we are in a rush, we let them have cereal for dinner because as parents we are just done for the day.
There are so many ways that I know as parents we take the easy way out. We are not wrong, we are surviving the day. Because it is easier and I am on a schedule to get out the door in the morning, I typically dress Bridget. Can she do it on her own? Sometimes on the weekends. When there is no rush and we (I) don’t care that her outfit is a mismatch. Or not only do we have time to inspect and notice that not only is her underwear on backwards and kind of sideways, we have time to realign things to make the van on time.
Bridget has come so far, broken so many “barriers” since that one doctor told us she would never (insert milestone here).
Yet her milestones, every freaking one has come with a price.
Hours of feeding therapy to learn how to eat, to avoid a g-tube.
Hours of physical therapy to learn how to roll over, to walk, to jump and to navigate stairs.
Hours occupational therapy to deal with sensory issues, to learn how to write, to learn how to use an utensil and put on clothes
Hours of speech therapy to learn how to sign and then finally say Abbey. To need an interpreter all through public school when a new teacher would enter her life and her typical peers would have to let them know what Bridget was trying to say.
I hate the term typical peers.
Hours of ABA that had to be modified due to her stubbornness but without it she would not have ever been potty trained.
Even with being potty trained, she still pees and shits the bed.
I admit it.
I want that perfect child.
I don’t want to wake up in the morning and not only have to change a diaper but have to change the bedding.
I don’t want to have to deal with temper tantrums because she doesn’t understand she cannot eat the entire container of Oreos.
I don’t want my child in a special education school an hour away where I know no one and have no idea who her friends are. While I know she’s where she needs to be, I hate that I had to give up the dream of her graduating with her class or being a part of our village.
I don’t want to have 15 specialists, I want one pediatrician that we got once a year for the school form.
I don’t want Bridget to have to have 24/7 supervision, I want her to go to college, get married and have a family.
I don’t want her in a pre-training/vocational program. I want her to get a job just like her sister did at 14.
I don’t want an IEP or special education. I want education and field trips I don’t have to be a chaperone on.
I don’t want to have to base every freaking decision on what she can/cannot handle or have to modify a vacation. I want to be able to leave her home alone and have a date night with my husband.
I admit that while I will always see the silver lining, the clouds freaking hurt.
Bridget is so very happy. If she could read I probably wouldn’t write this (and if her sister reads it she will be rightfully pissed at me). Though if she could read I probably would not have to write this or would even think these thoughts.
But Bridget cannot read.
She cannot do math.
She will never live alone.
She will have an incredible life.
I just some days wish it was the typical, perfect life I thought we were promised when I saw that positive test. I love my child, I just wish she wasn’t a forever a 4-year old.
I admit it, I love my child but somedays I hate this life.
There are so many made-up holidays (Galintines day) or Hallmark holidays (Mother’s Day), every day there seems to be another FaceBook holiday (my personal favorites are National Wine and National Margarita day). My FaceBook feed has been full of Siblings Day posts.
Siblings day, apparently is a thing. Since no surprise presents have showed up for Bridget today, I think her sister must be as clueless as I am about the social media pressure of Siblings Day.
Then I realized, in the life of rare disease and having a disabled sibling, every day is sibling day. If you are lucky.
I have always been a proponent of inclusion. Until COVID hit and they shut down the school system. When Bridget went back to school there was no longer a small crevice between her and her peers but a freaking canyon. Suddenly (it seemed) where Bridget was a peer, (with some differences) she was now the class pet.
When Bridget was in the public school I was very cognizant that she had to conform. She couldn’t wear “younger” clothes. I would not allow Bridget to wear anything that would make her a target. I would not let her wear a shirt or a dress with a preschool character on it. There are kind, accepting children. And then there are jerks.
I never wanted Bridget to be a target of bullies.
Even if she is unaware of the stares, it hurts my heart when I see another parent or child look at Bridget with judgement. At Halloween when she dressed up as a Disney Junior character, or watching a Disney Now program at a restaurant on my phone (something her sister NEVER would have been allowed to do) or her obsession with Princess Sophia when her peers are into teenage dramas.
The decision to move her to a school that was focused on special education, was scary yet freeing.
I no longer had to police what Bridget wore or spoke about. Because these are children on her same wavelength
It was freeing.
I can hold Bridget to a standard, yet also let her be who she wants to be.
At “professional day” at school she was Doc McStuffins. The most annoying Disney character since Calliou.
But my girl was overjoyed. Came home from school, took this photo out of her backpack and told me all about her day.
I continue to have high standards for Bridget. She can be disabled but not an asshole. She can be disabled but someday hold a job. She can be disabled but be the best she can be.
And I have to learn to let her win (not let it bother me so much) when it comes to how she dresses and what shows she watches.
The person who has brought my child to you and/or your clinic every 6 to 12 months for the past 14 years.
I know you see A LOT of patients and their caregivers. We also see A LOT of providers. Bridget sees 15 doctors, 4 therapists, 2 special educators and 4 educational support personnel. She sees countless laboratory techs, nurses and physician assistants. Let’s not even contemplate how many ER staff Bridget has seen in her 14 years, but I am betting it is more than the majority of medical professionals has seen for their own personal care.
Yet somehow, we know your name. Okay, we use a cheatsheet. Why don’t you? Why do you not know one thing about our child’s life or our name?
Here is my constructive advice, from a caregiver to a medical professional:
Greet Bridget. Yes, our child might be or may have been non-verbal, but that does not mean they cannot hear and understand. Even if the patient seems like they are unable to respond, greet them first. Say hello. Address them by name.
Learn the caregivers names. Come into the room and don’t call me “mom”. I’m not your mom (one caveat here, unless I’m in the NICU postpartum and you’re worried I have failure to bond). Call me Mrs. Ames (or if Bridget and I have seen you for a decade, know to call me Kerri)
Take notes about our personal life. Bridget was so happy to go to Alaska. She told everyone. Only one doctor took notes and when we returned asked Bridget about Alaska. For a child who is not a “reporter” but a “responder” by noting the information from the previous visit, this doctor was able to make a connection with Bridget
Remind us what you are testing for, while we might seem like we know everything most of the time it is because we do not want to look inept. So tell us, oh we are testing her urine for a UTI because of XYZ.
Call us back. Out of Bridget’s 15 doctors, only her neurologist calls me directly if I send a message through the portal. Otherwise I get a tech who is just going to relay the information to the doctor. It becomes a game of telephone. And you all remember how that goes, it starts with Mary went to the market and by the time it gets to the powers that be, it is Mary was a virgin who gave birth to a savior.
Take our parenting seriously. We know our child better than you do, validate that. Especially in rare disease but in all cases never discount our institutional knowledge of our child. If we say X is wrong, believe us and work with us to find an answer to Y.
Understand that we are a team. The parent is the coach. In Bridget’s case she has 15 doctors that do not speak to one another. I’ve literally be told when you see GI mention “this” or when the next time Bridget is having labs let me know so I can add “this” test. The parent is the complex care manager, give us the tools and the back up. Write your notes in a way that we can say to the next doctor, oh Endocrine is concerned about bone density and long-term use of her GERD med, they want her Vit-D tested.
Give us the tools to be successful, but give us the respect that we are in the trenches and you see our child for 20 minutes every few months.
Do not just treat the patient in PT/SPT/OT, but let us observe and give us the tools to keep doing the therapies at home. A 45-minute / once a week session will not “cure” our children. Yet typically we are in the waiting room while treatment is taking place. Then we are given “homework” in a busy waiting room. Here is a secret, if we knew how to do PT/OT/SPT we wouldn’t need to travel to you. So give us the education to carry on what you are attempting to do with our child.
Don’t give us platitudes, but ask us how we are doing. No one seems to check in with the caregiver to see how they are coping with this unexpected life.
Last, but not least, thank you. I am sure that being a pediatric specialist isn’t an easy job. Neither is being a caregiver of complex child. Together we can change their future.
Every parent loves their child, well most days! A parent of a child with special needs, for some reason, always seems to have to clarify that before they talk about how difficult this life is to navigate.
Not every moment is a freak show. Not every moment is a unicorn farting rainbow sparkles. Okay, rainbow sparkles is probably the 5th layer of hell, but you get my point. It doesn’t matter if you are a parent dealing with typical teenage angst or a parent dealing with a 14-year old that needs her butt wiped.
There are no perfect days in parenting.
And a lot was left out of that freaking what to expect book. And I’m not just referencing the fine print of there not being a no-return policy. (FYI if it’s in there I totally missed it)
Having Abbey, I think, balances my freak out moments with Bridget. For example, yes Bridget will never drive. However Abbey almost killed me multiple times before she got her license and I set her free to wreck havoc on the streets of the Cape. I had failure to bond with Abbey. Again, she tried to kill me in child birth, so it wasn’t really failure to bond rather it was why hold someone (even if they’re only 7 pounds) who gave you 46 hours of hard labor? With Bridget there wasn’t failure to bond, there was holy crap now my child might die and asking to take her place.
There is balance between the girls. Where Abbey is difficult, Bridget is easy. Where Bridget is ultra-dependent it makes me appreciate how independent Abby is.
Yet, as the girls get older it is becoming clear that the balance is shifting. Abbey is off at college, living her best life (as she should be!). Bridget is 14-years old and I am still cleaning sheets in the morning.
Abbey has one doctor, that she grudgingly goes for a yearly physical. Bridget is up to 15 doctors and post-Covid all those appointments are back on either a 6 or 12m rotation. I thought this life with Bridget would get easier as time passed, like her sister. Abbey will always need her mom, but in a different way that Bridget needs her mom/caretaker.
The balance remains, yet walking the beam gets trickier to make sure both girls get what they need from me. Making sure the easy moments outweigh the freak show moments.
I think I speak for every teacher and parent when it comes to standardized testing. Standardized testing (in our state MCAS) is meaningless, it does not provide any worthwhile information (since it is reported 6 plus months after the student actually took the test). It is a barrier to high school graduation and is not a true depiction of a teacher’s ability to educate or a students ability to learn.
In Bridget’s case it is the epitome of ridiculousness. She cannot read or add, yet the State expects her to take either MCAS or MCAS-Alt. I joked for years that due to the complexity and time that is involved with MCAS-Alt that just let Bridget sit in a room for 3 hours playing on the computer. Hey with the laws of probability she might just pass the multiple choice!
When Bridget transitioned from the traditional public school to a special-ed only school there was a lot for us, as a family to adapt to. And for the school to adapt to my style of parenting, aka sarcastic humor. I questioned them about the MCAS-Alt. I would rather Bridget’s team spend the time teaching her vocational and real-life skills rather than worry about what the State Department of Education deemed worthy. I have plenty of sleepless nights, but I never lost sleep over how the State judged Bridget’s academics.
Until last week, when I receive this in the mail.
Bridget’s school team rocked the MCAS-Alt. They showed the State what I have always known.
No one, not myself and not the State, can ever tell Bridget that she cannot do something. She does it in her own way, but she proves her worth.
It shouldn’t matter that she got this certificate from the State. But yet it mattered to me. That State recognizes how hard her team at school works to make Bridget the best she can be. That I can say to her home district we miss you, we wish she was still in her hometown public school.
But this is where Bridget belongs.
Because she and her team at school just rocked the MCAS-Alt and proved it.
When Abbey went to college this fall it mattered. Not that I’ve ever been that sentimental mother that worried about milestones. I’ve always been the mom that understood they are supposed to go to kindergarten, high school, get their license and go to college or live somewhere that is not my house.
I never had “that” moment where I was upset because it was just one more milestone that Bridget would not achieve. It didn’t matter to me that Bridget would never go to college, it worried me on how she would handle Abbey not being home.
I am incredibly lucky, my girls are in love with one another and bond over ways I never would imagine. Abbey has never once been jealous over the extra care and attention Bridget takes. I worried on how their bond would survive the distance.
That was proven true the first time Abbey FaceTimed home.
Bridget lost her shit. There were tantrums, there was crying, there was head banging, there was a storming to her room while she kicked the door. Every time Abbey called/FaceTimed we would try to get Bridget to just say hello.
I think it broke Abbey’s heart (though she would never tell me), I know it did mine, on how upset Bridget would become when she heard Abbey’s voice.
Until last week.
Last week, I don’t know what was in her water, but Bridget took the phone and visited with Abbey. Abbey took her on a tour of her dorm, the food court (no surprise, Bridget wanted to know where the Oreos were kept), “met” Abbey’s friends and they talked for an hour.
Tonight Bridget realized she could FaceTime on her iPad. She gave Abbey a tour of the house (in case she forgot where the kitchen was). Bridget TOLD Abbey about her day, about her friends at school and how it rained at home but she saw snow on the way home.
She told Abbey she would call her back tomorrow because she wanted to watch her movie.
Tonight my girls were back together having dinner together.
College distance, life distance has proven to have no impact on their bond.
Today is World Rare Disease Day. A day to celebrate this unique life Bridget and our family live. I was honored to share our journey today with a BlueRock Therapeutics, a Therapeutic company and the researchers who may someday change the lives of families who battle rare syndromes. While BlueRock does not study PACS1, they are making headway in other diseases.
I was drafted into the role of a rare disease advocate after the birth of my daughter, Bridget. Truthfully, I did not know this world existed until 14 years ago.
Bridget was born after a normal pregnancy. Shortly after birth, I recall thinking her breathing was funny, like she was scared. We went home, and I recall having Bridget on my knees thinking she was breathing like she was scared. A visiting nurse stopped by a few days later to do a well-check and was concerned by Bridget’s breathing. Thinking back, I honestly was almost cavalier about it. I told her we were taking Bridget to the pediatrician the next week and would mention it to him.
Thankfully the nurse decided to call the pediatrician herself and we were told to drive immediately to Children’s Hospital. This is how relaxed we were, we not only drove to Boston (not calling 911), but we brought her older sister (then 5 years old) and our golden retriever! I had just had a c-section, it was Thanksgiving weekend and thought everyone was overreacting.
I have never been more wrong in my life.
We entered the ER at Childrens and faster than I would have imagined, my 4 day-old baby was hooked up to an EKG machine and oxygen. Around 10pm that night we were told that we would be admitted, my husband left with our older child and I was left not knowing what the heck was happening. At 2 am an ECHO tech arrived and began performing an echo. He immediately called his supervisor and we were transferred to the NICU. Where Bridget gained a lot more doctors and I got a lot more experience at navigating the halls of Children’s Hospital.
After 10 days, Bridget was released home. However this would not be the last time she would visit Hotel Childrens. When Bridget was about 3 months old, we were once again spending a few days at her favorite hospital. A woman walked in and said she was from genetics. She wanted to go over Bridget’s family history. I asked why? Apparently the team was stumped, so they asked Genetics to get involved. None of Bridget’s medical issues correlated to one another. They were hoping to look at genetics to find the answer.
What Genetics found was there was a genetic abnormality, but it came back as “unknown”. Now, imagine as a parent you are told that not only does your daughter have more health issues that were decidedly not in the “What to Expect When You’re Expecting” book, but there was something genetically “wrong” with your child. They could not tell us if she would survive, if she would roll over or if she would talk. We knew nothing.
We were undiagnosed, and okay with that.
From that the moment, I termed it Bridgetitis and decided that since we did not know what it was, it would not limit her.
The next few years were spent throwing every type of therapy imaginable at Bridget. Since they could not tell us what her outcomes would be, we would not let anyone tell us what they would not be. We did physical therapy, occupational, speech and hydrotherapy. We were at the therapy center so often that her therapists became our friends. At 3, we enrolled her in the public schools integrated PK and began ABA therapy. While it took time, Bridget eventually began to walk, she jumped and with a lot of time began to talk. Though it would not be until she was 8 years old that she would have true “speech”.
I began blogging about our journey, desperately trying to find someone like me, a parent who had a child with an undiagnosed syndrome. One day I wrote a piece called “Calling Dr. House”. Bridget had 13 doctors but not one of them looked at the whole child. We had GI, that worked on her reflux. We had neurosurgeon that performed an operation on her spine. We had a neurologist and a developmental delay specialists. So many doctors, but no one talked to another. Genetics seemed to be stumped.
A reader of my blog reached out. She knew of a doctor that would perform EXOME sequencing. As I said, we were trying anything, even if the answer was I don’t know, we wanted to try. We reached out to the doctor who was a clinical biochemical geneticist in Georgia who would provide Exome sequencing, for a price. As this was not covered by our health insurance, we really had to deliberate it. Not only would we have the expense of getting to Georgia, we would have to pay the doctor for her time and then pay the lab fees. We also had a 10 year older sister to consider, who would she stay with while we were away? I researched the doctor, making sure she had credentials, references etc… After doing our due-diligence, we made the trek from the Cape to Atlanta. Dr. Kendall did a thorough exam, ruled out some genetic syndromes immediately and then decided that Bridget should be a candidate for Exome sequencing. We did the testing and went home to await the results.
Fast forward three months. I am sitting at my desk at work and Dr. Kendall calls. She has great news, the Exome testing was able to tell us that Bridget not only has a genetic malformation but what that malformation is. Great! What does she have? PACS1 Dr. Kendall replied. What does that mean, I asked. Her reply? I have no idea. It’s only been seen in two boys in the Netherlands. There was one research paper that she could find.
When I think back to this time, I remember thinking how surreal my life has become. I was at work, it was midday and I had just been given news that changed everything, yet changed nothing.
Of course, I immediately read the PACS1 research paper, that was clearly over my knowledge base. However (and this is where all of you come in), within the paper there was a listing of all the researchers. One of them was from America, a scientist at Duke University. I somehow found his contact information (thank you Google!) and emailed him. I explained how Bridget had just been diagnosed with PACS1, was there any more research going on, did he know anything more than the paper. He responded within hours and was beyond kind. Not only was he kind, he was helpful. He immediately put me into contact with another researcher, who in turn put me into contact with the head of the Study, Janneke Schurrs-Hoeijmakers. Janneke let me know that not only was Bridget, not the 3rd child nor was she the only girl in the world. Bridget was actually the 13th child and the 4th girl to have the syndrome.
What I loved about my interaction with the team of scientists, who did not have to respond at all, was the compassion. One of my favorite quotes from the email sent to me by the professor at Duke was, “I do dream of the day when my response to emails such as yours will be to “take two of these pills and see me in the morning”. He understood how not having the answers not only affected Bridget, but the entire family.
Since 2014, when Bridget received her diagnosis there have now been over 250 children identified as having PACS1. Very limited research is continuing on PACS1, when our numbers are so small, it is hard to get scientists interested. We do have one parent funded research that is in its infancy.
What doctors and scientists should realize is that families are the best source of information. We share everything and notice trends within the group. The parents have learned that it is a mutation that affects multi-systems. PACS1 is a mutation of a protein gene that affects all systems, with varying degrees. For example, all PACS1 children look like siblings with their dysmorphic features, thin lips and button noses. All PACS1 children have an intellectual disability, yet some can read and write while others cannot. Less than half of PACS1 children have epilepsy, yet the majority have reflux and eating issues. As more children are tested, our numbers have grown. We now know that there is no early morbidity as a result of PACS1, the oldest “child” is 38 years old.
We do know that it is not hereditary, so we do not have to worry about future grandchildren or nieces and nephews.
In 14 years of living with Bridget, not one of her specialists has asked how we are doing as a family? They do not seem to understand that Bridget is not the only one diagnosed with PACS1, we all are. Nine years after being diagnosed, we are still on a journey. And the journey is not just Bridget’s, her PACS1 diagnosis affects the entire family.
She has a sister that knows one day she will be responsible to care for her. She has parents that cannot leave her alone to go on a date night. PACS1 affects our finances, for example my husband cannot take overtime if it interferes with my own work schedule. Whereas if Bridget was a teen without PACS1 this would not be an issue. Bridget now goes to a school that has a 45 minute commute, thankfully the school helps with transportation. But if we have to pick her up from school due to a cold, for example it’s not like we can just pop in and continue with our day.
Bridget is going to need lifelong care. She has 14 doctors that need to be seen on a 6m to yearly basis. That means time off of work does not mean to go on vacation but to travel to Boston.
There is also a financial burden, when you have a rare disease. Without insurance, some families face bankruptcy.
I shouldn’t have to preface, but every rare disease parent does: We love our child, but not every day is sunshine and unicorns.
It’s not just the financial impact, but the mental.
When you realize you are still showering your 14 year-old or changing their diaper in the morning. When you realize you cannot go to certain events because you would have to bring your teen, who is actually a 4 year-old with you. When at the grocery store, you have to keep your hand on your child so they don’t disappear.
That you and your partner have to work harder at your marriage than your friends, because there are so many stressors that you can become focused on, you sacrifice your marriage.
It affects the siblings. My older daughter has always known that Bridget would one day live with her. We are incredibly lucky, the girls are extremely close and Abbey has never been jealous. However, I know that this is not the case in a lot of homes. When Dad goes with their typical child and the mom stays home with the PACS1 child. Some siblings resent that they cannot have friends over, or in the middle of the school play their PACS1 sibling acts up and the parents have to leave.
Just like my older child, I do not know what the future is for Bridget. In some ways having a rare syndrome is also having a typical life. Since we don’t know how PACS1 will continue to affect Bridget, just like before she was diagnosed, we do not set limits. We try everything, though soccer was an epic failure, swimming was not! She loves to play mini golf and go sailing, but hates basketball.
Patients like Bridget, have a life outside of their diagnosis. They are a part of the community. One of my mantras is that Bridget will be a part of the village, not the crazy aunt that only comes down for family photos. Yes, PACS1 affects her in so many ways. And as I have said, it also affects the whole family.
But PACS1 does not define Bridget, it just makes her rare.