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.