All posts in Parent’s Perspective

A Tale of Two STXBP1 Journeys

Based on my personal experiences, and by simply observing the typical diagnostic Odyssey, I am struck by striking realities of what seems to be happening from a genetic testing standpoint. On the one hand, we have families with babies being born near cutting edge facilities who seem to be getting their diagnosis early (within weeks or in early months).  This is good in the sense that those babies will have treatment earlier. These babies are diagnosed because they have unmistakable seizures quite early and many times they have infantile spasms.  Treatment is critical during these early stages of development.

On the other hand, we have families whose children were born prior to 2011 (when STXBP1 was added to the epilepsy gene panels) or those children, like mine who don’t display characteristics that seem to warrant genetic testing (i.e. insurance would not approve testing). For many of us in this second group, it took years of pulling our hair out, hours of research on Google, remembering back and blaming ourselves for everything and anything that occurred during pregnancy. I remember crying in agony to a developmental pediatrician convinced that I had eaten too much salmon and feared I had hurt my child.  He was great at putting that to rest but the searches and obsession went on and I always came up short.

Many of us fought and pleaded for our answers only to be defeated by the denial letters from insurance companies. My son, Mitchell, was first diagnosed with CP and the insurance company used that initial diagnosis to argue that understanding the underlying genetic reason would not alter treatment (boy were they wrong).  Much to my horror, my son had likely been having seizures from his early days of life.  Mitchell’s seizures were subclinical and I picked up on it when he was about three months old but could not convince his physicians to order an EEG.  In addition to many different types of seizures, he also had infantile spasms.  He was nearly two years old when he was finally diagnosed with STXBP1. If not for a family member, who also detected seizures, my journey would likely have lasted longer. I complain about the agony of not knowing what was wrong with my child until he was two but I am still one of the lucky ones.  There is one family in my group whose child was not diagnosed until the age of 40 there are also a handful of others who were not diagnosed until their 20s.  Their journey was peppered with several diagnoses until one day someone performed genetic testing.  

Even with some of these adult patients diagnosed, there are likely thousands out there who remain undiagnosed. Currently, some physicians do not like to genotype older patients. They have their reasons, however, they could be robbing families of their closure and creating blind spots for those of us working towards creating natural history studies. We want to understand how a disease progresses for different patients over time so that one day we may find a cure.

I hope that one day the landscape will change so that we don’t have to put families through this horrific pain of not knowing. The cost we endured both financially and emotionally would have justified the cost of genetic testing. Costs for gene testing are coming down in price and it would be great to allow families to “opt-in” and it would be even better if we could guarantee insurance companies could never deny a pre-existing condition.  As sequencing costs come down, there could be a significant cost savings in DNA testing and it could take the place of the many of current newborn screens.  We standardize this as a country, reduce storage and processing fees, get faster, and more accurate answers.  Most importantly, we could save lives and join patients into communities.

After sequencing, what is next? DNA is very complicated and often we don’t know what a every change REALLY means. This is where making inexpensive animal models such as zebrafish and worms could help us characterize these changes. There are companies out there such as https://nemametrix.comwho is beginning to do this.

Maybe one day we will have a brave new world where there is one journey, a diagnosis for families that want it in the first days of life, and a treatment specifically geared towards that mutation.






Celebrating the Journey of Inchstones instead of Milestones

Paul was diagnosed with a deletion of STXBP1 in the Fall of 2010. At that time we were told by the geneticist that he was one out of two children in the world to have STXBP1. I felt isolated and lonely. I started a FB page called Sir Sweetness Paul in 2011 in the hopes that others with STXBP1 would find us.

During that time I enjoyed reading blogs by parents of children who had disabilities. I came across an article by Rachel Zook in 2011 called, “Learning to Enjoy the Inchstones.” She talks about looking at a baby book of “milestones” that her daughter was supposed to reach and at what age. She finally got tired of looking at what her child couldn’t do, and decided to rejoice in the progression her daughter was making, no matter how slow. She coined the term, “inchstones.” That changed my paradigm of thinking as I watched Paul develop milestones behind schedule.

I decided to be his personal cheerleader and celebrate each inchstone he had! Paul started rolling at 13 months old, he clapped for the first time when he was three years old and he also said “momma” for the first time with intention, he sat unassisted for 5 minutes and started being able to feed himself his bottle when he was four years old. When he was five years old he learned to use his hands more and was able to hold and play with a stuffed animal. Currently, he is 7 years old and we use a device which is helping him learn to crawl. We mourn when he loses an inchstone, like saying “momma.” I hear it maybe twice a year for a few days then that skill is gone again. When it comes back we rejoice and do the “happy dance.” We never give up on him learning more inchstones or relearning the ones he has already mastered.

STXBP1 Disorders is introducing you to a person with STXBP1 each month, called the STXBP1 Squad. In part we started the Squad because no one needs to be alone on this journey. We all can cheer on the squad as they reach new inchstones. It’s all about the process and celebrating where your child is at now. Do you have any #stxbp1inchstones you’d like to share?

Overcoming the Pain of Milestones as a Special-Needs Parent

As a parent, we are all aware of the charts they use in the doctor’s offices to gather facts and objective data about our children. There is a head growth chart, height growth chart, weight growth chart, and then there is the dreaded developmental milestone chart. My daughter who has an STXBP1 gene mutation is the baby of our family. I don’t remember cringing when those charts came out with my first two children. I saw them as a way to monitor progress. I felt certain they would meet all the points they should and even if they didn’t, that they would soon enough.

These charts came to mean something very different to me when my daughter was born. They were now a way to monitor failure and points my daughter had not met and may never meet. They were a reminder to me of all the things she wasn’t and oftentimes left me in tears and feeling so discouraged and even depressed. I got to the point where I just convinced myself none of these things were going to happen. That way, when they didn’t, it wouldn’t hurt as much.

Much more so than the charts, I found birthdays to be absolutely devastating for me. It was an in-the-face milestone jammed full of the many things my child should be doing and was not. It was also a time to grieve the realization that the baby I had lovingly grown for 9 months was not the baby and future little girl I had envisioned. With these thoughts came a ton of guilt. Guilt over not being able to just celebrate her birthday and another year with her, guilt that I could not accept what was and be grateful for what I had been given.

I’m not sure I can say for sure what caused a change in my thoughts and feelings toward milestones. I do remember it was when Emma received her diagnosis at the age of five. It could have been the passage of time healing the wounds, maybe it was the need to find a way to enjoy my daughter and who she was, or perhaps it was the diagnosis presenting yet another trial for her. But suddenly, I saw her for the person she was, apart from my daughter, and the lost hopes and dreams I had for her at one time.

I saw a little girl who had to work hard at everything, even the simplest of things, and how she met each challenge with a smile and a motivation to “figure it out this time”. It took her four years to learn how to sit by herself, four years! She didn’t give up and when she finally got it, she was so excited and proud of herself. I don’t think I have ever stuck with anything for that long without seeing noticeable progress. Now when I look at her, I am inspired. I feel so blessed to be able to watch her and learn from her. My worst day could not amount to what she faces on a daily basis and there is no chart that could even come close to accurately measuring that. There will always be small moments of grief and that is okay, but there are many more moments of gratitude and my heart swelling with pride.

– Jennifer

Turning Anger into Joy

It’s a warm, sunny day and the kids and I decide to try out the new water park a couple towns over. I have begun to take for granted that we are an expected sight in our little town and few people pay us any mind. Everyone recognizes us and rarely are we confronted by uncomfortable stares.  You would think being 8 years in with a child with special needs would have toughened my skin and such a thing as 50 pairs of eyes watching us walk through the water park to find a place to leave our things wouldn’t phase me. Let me tell you, it is just as awkward now as it was when it first became obvious she was much too big to be a baby sitting in a stroller. 

The pain always catches me off guard. I believed I had felt about as much agony as was possible in regards to Emma, but the extreme discomfort of witnessing someone judging your child and maybe even making fun of them is indescribably painful. My first instinct as a mother is to protect. I feel angry and want to shelter her from the rude stares, the parents shushing their children’s questions of, “what’s wrong with that girl?” My next feeling is sadness and hurt, for her, for my boys, for me, for our family. “Will she ever be accepted for who she is? Will people always stare at her like she is an alien? What will happen when I’m not there to protect and shelter her?” Once I plow through those initial feelings, my thought is always, “If only they knew her. If only they knew our story and could see her sweet smile in the morning when I get her out of bed and she sees me for the first time that day. If only they were there in the delivery room when she suffered her first seizure and all my hopes and dreams came crashing down around me.”  

This has happened to us often and I slowly grew to dislike the way it left me feeling; resentful we couldn’t experience things like other families without stares and angry at people for their ignorance and often, blatant rudeness. If there is one thing my daughter has taught me, it’s that every challenge we face is an opportunity to learn and grow as a person and most of the time, these challenges are made much less so when we do use it for this purpose. I knew there had to be a way for me to work through this so it no longer stole our joy during outings. I also knew that people’s reactions stem mostly from fear and lack of education in regards to the special needs population. Of course, the brain knowing this is quite different from the heart feeling it. Still, was there a way for me to turn these uncomfortable situations into something positive for us, but also the people we were encountering? Could I educate and be okay at the same time? 

From these thoughts, ideas formed that if I could somehow introduce people to Emma and our family without having to say anything, it may ease some of the tension during these interactions, and open the door for people to ask questions and embrace acceptance. I created cards that had a brief introduction on the front of them of Emma and on the back contained information about her rare gene mutation and the medical issues that accompany it. I began carrying these little cards everywhere with us and started handing them out at the places we frequented the most. Our favorite grocery store, the pharmacy, and her brother’s school all got some. When I caught someone staring, I handed them a card with a smile on my face. Before I knew it, we couldn’t go anywhere without someone stopping us and saying, “Is this Emma?” 

The response to these cards has been inspiring and heartwarming. It still isn’t easy for me to see someone staring at Emma and sometimes I have to remind myself  of the reasons they do it and make a conscious effort to continue spreading awareness and educating. I know, though, that choosing education and kindness over isolation and anger has helped turn something painful into an opportunity for everyone, including me, to learn and grow. The journey has been long and uncomfortable and continues even now. More often than not, I am rewarded with reminders from the people in our community. Today, I pulled up to the pharmacy window and the tech greeted me with a warm smile. I pushed the button to roll down the back window so she could see Emma and say hi to her. I sign for the medication while Emma makes the tech laugh with her raspberry blowing. We wave goodbye and then I slowly pull away from one of our weekly, mundane errands filled with joy.  


Don’t Shoot the Messengers….

We live in a world right now where access to research dollars continues to shrink.  As I network at conferences and symposiums and meet with organizations that provide research dollars it becomes increasingly clear that labs are all competing for the ever-shrinking piece of the pie.  Many labs are struggling to make it.  Regrettably, epilepsy receives a MUCH smaller piece of the pie than it should given our numbers.  Being that  1:21 people are affected by epilepsy, it is unfortunate that we obtain less funding than diseases  that when combined are less than the people with epilepsy.  ALS, MS, Parkinson’s, CP are an example of similar diseases that each receive more funding than epilepsy but when COMBINED do no equal our ever-growing numbers.

When I look at our disorder, I see that  STXBP1 is at least 10 years behind similar genetic epilepsies with less numbers. STXBP1 is not as rare as many suggest and this belief is holding us back as a community.  In this climate where scientists, and increasingly physicians, are not trusted we can’t continue to dismiss work from scientists and physicians who have taken the time to passionately investigate our disease. It is easy to think that our reality is the same reality for others in our community when it isn’t.  A sample size of one or two, maybe ten may be important to those families in a small case study, but in the larger context we are all part of the tapestry that makes us STXBP1.  Our collective experiences combined into a large Natural History study will create a better picture of what STXBP1 really is.

Instead of fighting what does not represent our individual reality, or those with the loudest voices, why not trust in what the numbers are trying to tell us.  One study is a start but let’s continue to explore even larger studies so that we can TRULY understand what STXBP1 really means as a whole.


About Us: Leading the Charge Against STX Disorders

Our Scientists

It is a beautiful thing that parents come together around disease.  All of us from different walks of life, different corners of the globe all come together to learn and understand STXBP1.  As our numbers grow so will our growing pains as we struggle to find our identity in this orphaned disease world.  I would describe our community in many ways but one way stands out from my perspective.  There are those of us with very sick children who are desperate for a cure.  I want something that will stop me from repeatedly running into my son’s room to make sure he is still breathing, especially on those sleepless nights when he requires Oxygen (We lovingly call them O’s).  There are others with wonderful children who are making incredible strides in their development.  Many of those parents want to enjoy those children and live in a world where they can create lasting and wonderful experiences for their children.  In essence they accept their beautiful child as they are.  

There are others who are scientists or parent-scientists who have taken to devour and embrace science without the benefit of formal education.  Our “scientists” are those who want to move the community forward so that we have a therapy one day soon, even one that will only make an incremental improvement.  We do this so that will be ready with those who want to participate to open the door to more possibilities.  With the information, validated by geneticists, and neatly tucked away in a form usable by scientists and physicians we have a hope of moving forward. We want to move quickly towards progress.  Many organizations make the mistake of thinking that the parent organizations alone will be enough.  They are a beautiful thing for many but they are not enough if therapy is the end goal.  For those of us in this position we need to keep our eye on the prize and move forward in this difficult journey.  Our path is extremely painful, full of frustration, tears and sadness. It repeatedly tests our sanity, strength, our faith, and our relationships with others because of our passion to change the world.

There are many questions that weigh heavily on my mind (enough to keep me up many nights). Will we be ready if/when our research scientists come through for us?  If we are not, what will this mean for future exploration in STXBP1? How can we keep the scientific and medical community engaged enough to keep their focus on STXBP1? I am so grateful to the many “scientists” who came before me and laid the initial steps that we can build upon.  Building animal models was no small feat and I/ and many will eternally be in their debt for the sacrifices and passion it took to get us to this point.  

As our community grows, will we be forgotten?  Science is extremely unsexy and difficult to understand for many.  It is not fun to discuss, unless you are a total dork like me.  Science is expensive and it often takes years to realize benefits from an initial investment.  Science is a sacrifice and is selfless because it may mean helping the next generation.  Science is faith believing that the next improvement is right around the corner.  Investment in R&D in this country is shrinking and we only have each other and our friends in this lonely journey called STXBP1.  Let’s change the conversation and make science sexy again…. Let’s continue to stick together to help change the conversation.  Let’s continue the fabulous work my fellow world scientists are doing to keep the focus on STXBP1.