I possess many titles: wife, mom, advocate, runner, Bruins fan, lover chocolate and Parrot Head. I believe you can conquer any challenge in this world with family, good friends and wine. I write about most of that and more while keeping my sense of humor in this life I never expected.
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.
You can want a vacation or want a safe place to live.
You can hate broccoli or hate that someone you love has cancer.
You can say that you are friendly or that you are a friend.
You can say that taxes are stupid or that a person is stupid.
You can say someone is a Masshole or that they are an asshole.
You can say you don’t mean anything when you use the word retard or you can know that saying someone is retarded is not only insulting but hurtful.
There are an estimated 171,146 words in the English language according to Google. Of those words, I would guess that there are many insults you can use when describing someone’s behavior.
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.
February 7th was the day the first boys in the Netherlands were diagnosed with PACS1. A new, novel, never been seen before syndrome. A few years later, in 2014, after what felt like eons of searching for a Dr. House, Bridget would be diagnosed with PACS1. We thought it would change everything.
And it did, but it also changed nothing.
20142022
Getting the diagnosis was not the end of our journey, but our beginning. There was no magic wand, Bridget was not (and will never be cured). Being an ultra rare disease (less than 250 known cases), the parents are the most knowledgable. We have been lucky to have one parent spearhead clinical research, sadly without patient advocacy (or being pain in the asses) there is only so much money to fund research. Being small in numbers means without the community support, there would be no knowledge base.
The parents are the best resource, and I have been very lucky that the doctors on Bridget’s team (all 15 of them) listen to our anecdotal findings. When I go to an appointment and am able to say 20 of the parents have noticed X is going on within our population the doctors pay attention. But not all doctors do. This is why awareness is important. For a parent who is still looking for a diagnosis, to be able to tell their doctor it might be “this”. Or once a child is diagnosed, the parent can be put into contact with our support system.
Yet even in PACS1, we are finding there are now different variants (something new). Bridget has the Schuurs-Hoeijamakers variant. For our PACS1 family community, we are not the broad spectrum of PACS1, but our exact mutation. It is important to know the differences within the PACS1 mutations, as in our children’s population our variant is a clone within all the children. This is why they look like and we call them siblings. You can see how closely they all resemble one another in our annual collage.
This is why every February 7th the parents flood social media to create awareness of the PACS1 syndrome.
We never know where the next PACS1 sibling will be found. We also don’t want them lost in the journey. We want to give every parent searching for a diagnosis that PACS1 might not be their child’s syndrome. We want to encourage those navigating this medical mystery to never give up hope. With the leaps in science and testing, more families are able to discover why they are unique.
Getting diagnosed won’t be the end, just the next step in your unexpected life.
So much has changed for Bridget, yet each day, each year and now each decade contains so many PACS1 milestones and questions. We never stop asking, we just hope someday to have answers for the PACS1 family that is diagnosed after her.
A few years ago I wrote a post about turning 50, when age all of a sudden became important. Two years have past. Then karma kicked my butt, but in a good way.
When I began this blog in June of 2012 I had no idea where to begin. Bridget was not yet 4 years old and I was struggling trying to express how incredible life she had but not knowing why she struggled.
I began this blog to try to find others like us, those without a diagnosis but who thought they were okay. Because we were. We were undignosed but okay.
Bridget at almost 4
Friends, family and readers have followed her journey over the past 10 years. Without this blog I would not have written, Paging Dr. House and a reader would not have responded with a lead. A Doctor in Georgia who two years later would diagnose Bridget with PACS1.
I have never been a mom who worried about milestones. When Abby went to kindergarten, I didn’t get teary. She was supposed to go. When she went to high school, got her license and then onto college I was always so proud…but never weepy. I never wished for time to standstill. To me, our role as parents is to prepare your children to survive without you and be adults. Even though I blinked and my little girl went from 9-months to 19-years faster than I thought possible. One minute she was in kindergarten, then next she was on a plane to a life none of us expected.
We rejoiced, so proud to be parents of a child not afraid to go out and see what the world has to offer, if you are willing to try.
I wrote a few weeks ago but a parent in our town that got “that” phone call. The one no parent wants to answer. About what that parent needed. This is about what they don’t need. And please forgive me for thinking this is a “poor me” post. It’s been a week. But this isn’t about “me” it’s about every parent who got that phone call, or the parent that got the child they love but that child isn’t what isn’t in the “what to expect book”
Don’t say: “You’re strong”. Followed by “I don’t know how you do it.”
We were not given a choice. It’s not like kids come with a warranty. Parents do not get to choose the “easy” kid. We are not allowed to just let that unexpected child to just be. We have to fight for everything. From getting a diagnosis, to obtaining an IEP to making sure our child is safe. We aren’t allowed to be weak. We are not allowed to not “do it”. We are not given a choice, because this is our child and we have to be the best we can be to make sure they are given the best life possible.
Instead say: wow, what can I do to help you? Because I know you are strong, but only because you have no choice.
Don’t say: “Special Parents get Special Children”
Um….no. There is no interview, or testing to prove you can handle a child that has more obstacles than a Navy Seal candidate. Trust me, I think BUDs might be an easier obstacle. I don’t know that as a fact, just as anyone who utters the “special parents” phrase understand how absolutely ignorant that statement is to a parent that is struggling to make sure her son doesn’t break her windshield. Let me put it this way, would you rather have an honors student with a full ride to Harvard or a child that throws poop at you and cannot verbalize why? “Special Parents” are if chosen is the biggest FU since the phrase “bless your heart”. Don’t say it. Ever.
Instead say: Wow, this was totally not in the what to expect book. Do you want me to help you write a review on what not to expect?
Don’t say: God only gives you what you can handle
Truth? Most of us have your God in a permanent time out. Those of us in this life think, fuck the God that made us have to choose if our child lived or died. How dare “he” let our child suffer. What kind of benevolent God would let a child need life saving measures or a parent have to make the choice or if not critical have a parent have to stop a child from harming themselves or their siblings? What God gives a child cancer? Those of us in this life no longer believe in your God (and don’t say you’re praying for us unless you are willing to take our child who just literally shit the bed for the weekend). We want to, but honestly we are just done.
Instead say: I believe in God, but I don’t understand why he has allowed you to be hurt this way. If you believe. If you are like me and God is in permanent timeout, say: What the Fuck, if there was a God your child wouldn’t suffer.
And before anyone judges, unless you have held your child down for a test, been through countless IEP meetings, dealt with aggressive behaviors, unless you have honestly had to make the choice if your child should have life saving measures or not….then don’t comment.
Don’t say: I would do XYS
If you have a typical child, rejoice. But don’t judge us others who are just trying to get through the next 24 hours. Yes, our child might have chicken nuggets for dinner or wear a bun every day but we pick our battles.
And sometimes, if you need to say something to say is:
I don’t know what to say. I know you don’t have a choice, but you amaze me because while I know if I had to I could do what you do. But since that isn’t my life lets go for a walk (or insert activity here) and know I am here for you. For the good times, for the bad times and most importantly for the ugly tears times.
Don’t say how do you afford this?
Instead say: this is how you apply for Medicaid, for unemployment for FMLA. Find out how they afford this life before they are bankrupt.
None of us asked for this unexpected life and while the Holland poem might help at first, we don’t need the “go to” brush offs. And the next time someone hands you a book that starts with “what to expect” answer with they have no freaking idea. Because that book is for the text book child, not the child that makes you love them while you cry at the injustice.
I love my Bridget, but there are so many moments that bring me to my knees.
We need our friends. Our Village. Our tribe.
Thats how we survive. Not just the unexpected but the comments that while might be well-intentioned brings us to our knees.
You mean well, but…we need more than words. We need support in action
I wrote a few weeks ago but a parent in our town that got “that” phone call. The one no parent wants to answer. About what that parent needed. This is about what they don’t need. And please forgive me for thinking this is a “poor me” post. It’s been a week. But this isn’t about “me” it’s about every parent who got that phone call, or the parent that got the child they love but that child isn’t what isn’t in the “what to expect book”
Don’t say: “You’re strong”. Followed by “I don’t know how you do it.”
We were not given a choice. It’s not like kids come with a warranty. Parents do not get to choose the “easy” kid. We are not allowed to just let that unexpected child to just be. We have to fight for everything. From getting a diagnosis, to obtaining an IEP to making sure our child is safe. We aren’t allowed to be weak. We are not allowed to not “do it”. We are not given a choice, because this is our child and we have to be the best we can be to make sure they are given the best life possible.
Instead say: wow, what can I do to help you? Because I know you are strong, but only because you have no choice.
Don’t say: “Special Parents get Special Children”
Um….no. There is no interview, or testing to prove you can handle a child that has more obstacles than a Navy Seal candidate. Trust me, I think BUDs might be an easier obstacle. I don’t know that as a fact, just as anyone who utters the “special parents” phrase understand how absolutely ignorant that statement is to a parent that is struggling to make sure her son doesn’t break her windshield. Let me put it this way, would you rather have an honors student with a full ride to Harvard or a child that throws poop at you and cannot verbalize why? “Special Parents” are if chosen is the biggest FU since the phrase “bless your heart”. Don’t say it. Ever.
Instead say: Wow, this was totally not in the what to expect book. Do you want me to help you write a review on what not to expect?
Don’t say: God only gives you what you can handle
Truth? Most of us have your God in a permanent time out. Those of us in this life think, fuck the God that made us have to choose if our child lived or died. How dare “he” let our child suffer. What kind of benevolent God would let a child need life saving measures or a parent have to make the choice or if not critical have a parent have to stop a child from harming themselves or their siblings? What God gives a child cancer? Those of us in this life no longer believe in your God (and don’t say you’re praying for us unless you are willing to take our child who just literally shit the bed for the weekend). We want to, but honestly we are just done.
Instead say: I believe in God, but I don’t understand why he has allowed you to be hurt this way. If you believe. If you are like me and God is in permanent timeout, say: What the Fuck, if there was a God your child wouldn’t suffer.
And before anyone judges, unless you have held your child down for a test, been through countless IEP meetings, dealt with aggressive behaviors, unless you have honestly had to make the choice if your child should have life saving measures or not….then don’t comment.
Don’t say: I would do XYS
If you have a typical child, rejoice. But don’t judge us others who are just trying to get through the next 24 hours. Yes, our child might have chicken nuggets for dinner or wear a bun every day but we pick our battles.
And sometimes, if you need to say something to say is:
I don’t know what to say. I know you don’t have a choice, but you amaze me because while I know if I had to I could do what you do. But since that isn’t my life lets go for a walk (or insert activity here) and know I am here for you. For the good times, for the bad times and most importantly for the ugly tears times.
Don’t say how do you afford this?
Instead say: this is how you apply for Medicaid, for unemployment for FMLA. Find out how they afford this life before they are bankrupt.
None of us asked for this unexpected life and while the Holland poem might help at first, we don’t need the “go to” brush offs. And the next time someone hands you a book that starts with “what to expect” answer with they have no freaking idea. Because that book is for the text book child, not the child that makes you love them while you cry at the injustice.
I love my Bridget, but there are so many moments that bring me to my knees.
We need our friends. Our Village. Our tribe.
Thats how we survive. Not just the unexpected but the comments that while might be well-intentioned brings us to our knees.
You mean well, but…we need more than words. We need support in action
(Un)Diagnosed and still okay 