All posts in Uncategorized

The Invisible Children

As I come down off the high of an amazing trip to see my daughter’s Beyond the Diagnosis portrait and celebrate her journey, I struggle to find just the right words to describe what it meant to me. I tried to explain my feelings about what that painting means after living the undiagnosed and rare life to the incredible people we met while there, but fell pitifully short of doing so adequately. This morning, however, the words started coming to me and so, in honor of the many children who are undiagnosed or live with a rare disease and the families who love them, I share my words to shine a spotlight on their struggles.

Emma had her first seizure half an hour after birth and from that point, she battled an unknown foe until she was diagnosed at 5 ½ years of age. That period of time is miniscule compared to what some families wait for a diagnosis, but it still felt like an eternity to me. During those 5 ½ years, I researched like a maniac, constantly searching for things to test her for and trying to find extraordinary doctors and facilities that would be willing to help us find an answer.

Often, undiagnosed families deal with doctors, family, and friends discouraging their search for a diagnosis. Parents are forced to fight and become strong, assertive advocators for their children. Doctors will test for the obvious and treatable conditions, but if it proves to be a difficult case, resilient and passionate doctors are few and far between. I have lost count of the number of times during those 5 years that a doctor told me they couldn’t help or that I would probably never know what was wrong with Emma. I had many people tell me I just needed to accept and love my daughter and stop wasting time searching for something that was out of our reach.

I’m not sure anyone who hasn’t experienced having a very ill, undiagnosed child can understand the deep need to find an answer for them. Have you ever lost track of your child for a few seconds at the playground? Has your baby ever been sick enough that it left you feeling helpless and desperate to talk to their doctor? Do you remember those feelings? Now magnify those a hundred times and imagine feeling that way every day, knowing there is no end in sight, and you will get a small idea of what the parents of undiagnosed and rare children feel like.

Some of the thoughts that constantly haunted me were, “what if she has something treatable and we could help her? What if it’s something my other children will develop down the road? What if it’s something hereditary that my siblings need to know about before starting their own family? What if it’s not treatable and I will lose her without ever knowing why?” And finally, “how can I help and protect my child when I don’t even know the name of the monster making her sick?”

Not all of these questions can be answered when a child is diagnosed, but many other important things can come from it. Suddenly, you have a community of other families dealing with the same daily struggles and isolation, who will become like family. You see pictures of other children doing the same, adorable leg cross you always thought was an “Emma thing.” As a community, you take on the challenge of getting researchers involved and fighting for a treatment and cure. You plan trips around being able to meet these families and no matter how brief your time with them, it is magical.

Sadly, rare and undiagnosed children are invisible in the medical community. Most doctors they see aren’t going to have experience treating their disease and rarely take the time to learn, which means the parents end up being the “experts”, although rarely treated as such. Emergency room visits are a nightmare as you try to explain that your child doesn’t fit into the neat little box they were taught about in medical school. These children are too much work for most doctors and what should be an opportunity to learn and make a difference, instead ends up feeling like a burden to them. Research is expensive and families are left to fight for a place in this world and with there currently being 7,000 rare diseases, it is a huge undertaking. Without a diagnosis, children have no place where they “fit”. They are often crammed into the CP or Autism category, but it is never a perfect fit. It isn’t really where they belong.

For 5 years, I disagreed with doctors, second-guessed myself and my sanity, and fought a battle with a nameless foe, feeling very much alone. December 18th, 2013, I found out who our adversary was. I knew its name, but it was rare and researchers were only just beginning to look into it. A new fight began, only this time I wasn’t going to go into battle alone because we had a community.

Fast forward another 5 years as I stand in front of a painting of my sweet girl. In it, she smiles, as she usually does, and is surrounded by light. She looks exactly as I have always seen her. Her journey flashes through my mind and I am overcome with so many emotions. Her face represents her community in medical universities, government facilities, and research labs all over the United States, educating all who see it. My daughter is finally completely visible, her disease has a name, and she is “home”.


PTSD in Special Needs Parenting

I want to talk about PTSD. Most of us hear about this in relation to men and women returning from war. It can happen in many other situations, as well, but I want to talk about it in relation to special needs parenting. In general, I strive to keep things positive. I firmly believe focusing on the positive makes everything so much more bearable. Even so, I have definitely experienced moments of PTSD since Emma was born. This year, however, tops them all.

I know I am not alone in this. I think many special needs parents try to be positive because we know that on top of facing our already awkward, uncomfortable situation, being raw and honest about our pain would probably be too much. It would scare away the few who haven’t disappeared from our lives. One important thing I have learned is that if I can’t be honest with you about the bad as well as the good, we probably aren’t really friends. The people who truly care about me will be able to hear about my pain and stand by me through it.

With that being said, I want to share about my PTSD this year in hopes of breaking down the walls between the special needs community and the rest of the world. I hope my sharing gives another special needs parent/s the courage to share with those around them because we already suffer through so much alone, as it is. When we are able to be honest, people step up to support us and many times, save us when we most need it.

This year, Emma’s seizures returned. She had been seizure free for two years and I was feeling comfortable and…(gasp!), safe even. She had just made it through a major surgery with no breakthrough seizures and I was optimistic as we welcomed 2018. Then she had a seizure on our way to a neurology follow-up. Surely it was just a fluke. Maybe it was a UTI, a cold, or her recent growth spurt. I didn’t worry, completely confident some med changes would do the trick.

Fast-forward seven months, numerous medication increases, five new medications, a lengthy hospital stay, and lots of tears and we are still fighting them. They are now happening multiple times every night despite the fact Emma is on four different seizure meds, all of which are maxed out. She sleeps with me so I can feel and hear when she has one. My phone is constantly on me, ready to alert me to the fact she needs me. I speak with her neurologist and his nurse more than I have spoken with many of my friends since this all began.

What does something like this do to a parent emotionally and physically? I don’t sleep much and when I do, it is very light sleep. I am constantly aware of her breathing pattern, movements, and any sounds she makes. My heart races each time she has a seizure, which keeps me from falling right back to sleep. The thoughts that go through my head and the feelings that devastate my heart are traumatic in and of themselves. I go back and forth between feeling helpless and determined.

During the day, I have a hard time focusing on anything but the thought of what will happen if we can’t get these controlled again. Is this how our life is going to be from now on and if so, how can I be okay with that? How can I still fit into ordinary life when my life has been turned upside down and I feel anything but ordinary? What kind of things does a parent of a very ill child discuss with people who can’t even begin to understand your reality? If I seem distant, it really isn’t you, it’s me! I care about you, but am so overwhelmed; I often can’t even focus on what is being said to me without some extra processing time.

The phone rings, it’s the school, and I instantly panic. I just know Emma has had a seizure and they have had to give rescue meds or call the squad. Even after I hear the OT’s voice asking about a swing for Emma during recess, I cannot calm my heart or my fears. What I really need is to find a room where I can breakdown without terrifying everyone around me because, for now, she is okay. For the rest of the day, I am restless and unable to think clearly. But don’t worry, somehow I can still plaster that fake smile on my face so you don’t have to share in my pain.

I have a bag packed at all times. I check it often to make sure it has everything we will need not if, but when the next unexpected hospital stay occurs. We have been caught unprepared before and it’s amazing what a pick-me-up a clean pair of socks and a tooth brush are when you are in the hospital for a week, far away from home. At times, I feel like one part of me has been left in that hospital mentality while the other part is struggling to live day to day life at home.

I rarely feel hungry and my stomach is always upset. Yet, because of the stress, my thyroid has gotten sluggish and I pack on the pounds. This, along with the lack of sleep only makes the sadness, depression, and isolation worse. I am too tired to get outside and walk or exercise, which only serves to worsen all of the above symptoms. It is a vicious cycle that there doesn’t seem to be an end to. I consider taking one of the Ativan the doctor gave me so I can sleep, but am immediately fearful it will prevent me from hearing Emma’s seizures. I don’t need sleep that badly. This is, after all, life and death.

There is still a small part of me that hopes this isn’t it, that this isn’t the way our life is going to be from here on out. I miss genuinely laughing, being able to have conversations with my non-special needs friends, and being able to be fully present with the people I work with. Right now, I can only get through this the best way I know how and I know the people who truly care about me will understand that. I know they will stand by me in my pain.




Following the success of our 5K, there are many analogies to what we did on 10/21 and how we live our daily lives. In our search for a cure and living with medically fragile children, it is important to remember that our lives are more of a marathon and not a sprint. If you look at it all it is overwhelming and the importance of pacing is key to survival and also our success. We also know the importance of passing along the baton when we need a helping hand. Our lives work because of the people who surround us whether it is the dedicated nurses, physicians, therapists, or those amazing friends who will take our calls when we are breaking. Our lives could not function without our intricate network of friends, family, and professionals. I know that this is the case with me as well as many others in the community.

When it comes to breakthrough therapies, it can take decades to realize all of our hard work. At any moment in our journey parents, we as parents could easily become fatigued. Our dedicated physicians and research partners may move on or retire. Nothing is constant and change is really the only certainty in this world of ours. Special needs and families truly understand that chain reaction something as simple as a cold can affect.

Translating all of this to our efforts, we realize that our organization must live on matter what. Our information must live on matter what. Our momentum must live on no matter what. It is a tall order to support a non-profit while at the same time being a parent to one of our beautiful STXers. Burnout and tragedy may affect our roles at any moment. This is one of the reasons we have set up our organization the way that we have with transparency and information sharing. Even though we are a small group we try to keep each other in the loop of everything that we do.

In the same spirit, we chose a registry that is institution agnostic that is incredibly well funded (self-funded). It has the support of gene counselors so that we may empower parents worldwide with the information needed for them to make the decisions that are best for their families. In addition to storing surveys, we have an option to store stem cells and fibroblasts so that we can encourage and entice study in STXBP1 across our globe. We have done this so that no matter where the road takes us the legacy of our information and learning can live beyond each of us. We want to put the power in the hands of all of us so that our families are set up no matter where this road takes us. We hope to cross the finish line with all of us together.

Get to Know us

Get to know the STXBP1 Foundation/STXBP1 Disorders

These last few months have been a whirlwind for the STXBP1 Foundation board members, since becoming an official 501(c)3 (see letter) in June of this year.  We would like to personally thank Harbor Compliance for their professional assistance and guidance during the acquisition of our non-profit status.  Harbor Compliance continues to be a valuable resource to the STXBP1 Foundation in helping us navigate the many facets of the non-profit world.  I know I don’t only speak for myself when I say that it is a true honor to serve and be a member of this community.  We love our families and have genuine affection for yours,  which is why we work tirelessly to create a better life and future for our children. While we can’t promise a cure,  we can tell you that this is our ultimate goal and one we will make every effort to achieve it.  If you have questions regarding our organization, please feel free to comment below and we will do our best to answer. 

Let me begin by thanking our board and Stephanie Smith White for their participation, tireless efforts, and generous donations of 1K intended to cover our anticipated operating expenses. This is done so that external donations can be applied to our mission (research, advocacy, & awareness).  Our board members can be found most evenings either on the phone with one another or with researchers, and sometimes even speaking to other parent organizations to further our cause. Every day each one of us juggles the many hats of a career, caring for our special needs and medically complex children, enjoying a personal life, and supporting the STXBP1 Foundation.  No one on our board is allowed to financially benefit from this affiliation and is never paid a salary. 

This is truly a labor of love and part of a genuine passion to serve our community. Most of our board is new to the non-profit world, so navigating this area is a bit of a learning curve, however, I can assure you that we are all up for the challenge! Along with myself, I would encourage you to take the opportunity to thank Russ Novy, Charlene Son Rigby, Jennifer Clatterbuck and Melissa Hioco for their tremendous efforts in getting this organization off the ground and for their continued support working for our community!


What have we already done?

  • Assembled our Scientific Advisory Board
  • Reviewed requests for research partnerships
  • Managed relationships with various labs & CHoP
  • Met with Congressmen to discuss topics that are important to our community (e.g. education, healthcare, early detection, increasing investments in research, etc.)
  • Created Brochures and promotional materials to provide at conferences and to share within our community
  • Attended NORD & Global Genes conferences (not financed by the STXBP1 Foundation)
  • Set up financial processes & systems
  • Recruited 30 families into our registry at Simons VIP
  • Prepared for AES conference in December

What do we plan to do over next year?

  • Hold our first scientific advisory board meeting 
  • Host Parent/Simons meeting in December in Washington D.C.
  • 5K Run/Fundraiser in Ohio & Pennsylvania 
  • Initiate planning for our first scientific strategy workshop in California
  • Translate Brochures to Spanish and French as well as any languages where we have parents willing to translate
  • Improve website 
  • Fundraise (Hold large Fundraiser in Feb. 2018)
  • Find more amazing volunteers
  • Expand our registry membership and information in it (data and bio-samples)
  • Continue to manage research partnerships
  • Continue to review new research requests

Our History

 Prior to forming STXBP1 Foundation/ STXBP1 Disorders 

  • February 2015 My son Mitchell, was diagnosed with STXBP1
  • March 2015 Joined Parents of STXBP1 Facebook Page – Learned so much from amazing parents and began to form strong relationships with Erin, Leslie and some other members in the community
  • April of 2015 (3 months after Mitchell’s diagnosis) I was convinced that classic gene therapy would work and was pushing CHoP to help us.  I looked at the STXBP1 gene and saw that it fit nicely into the standard vectors used for Gene therapy.  I also saw that we saw that Dr Sudhof’s lab was able to restore STXBP1 Function in neurons with the STXBP1 was added back into neurons so I thought this was a plausible approach.   In my search for experts I found Dr Davidson, Dr Kay, Dr  Rizo-Rey, and finally Dr Ingo Helbig.  
  • Additionally, I created a parent survey and from the 5 patients I questions I began to see some trends. The questions were based on questions that I saw coming up repeatedly in the threads.  When I shared my initial findings with CHoP they felt it was  interesting and suggested a patient registry was best next step. 
  • May 2015  Attended ASGCT Conference in New Orleans began to meet other gene therapists and learned about potential future therapies and some of the challenges for STXBP1
  • August 2015 After much deliberation and analysis of the existing literature on STXBP1 and gene therapy, we collectively felt it was not safe at this time to move forward with this approach.  Dr Davidson encouraged me to work with Ingo to begin to host some events and a future strategy session in order to begin the creation of a parent organization. 
  • September 2015 Mitch was near death in the hospital and I had to keep myself occupied so I created our first logo and started writing NIH grants to pass the long nights in the hospital. The only way I knew how to cope was by fighting STXBP1 in the only way I knew how. 
  • My best Friend Mandy Younger gave CHoP $10,000 so that we are able to open the CHoP STXBP1 Fund.  She did not want to wait to see us fundraise so she generously donated allowing us to open the fund.
  • October 2015 Attended NORD and was introduced to staff who quickly became mentors to help in our journey.  NORD suggested that our  first step was a website and wanted us to form a non-profit. 
  • I contacted a tax non-profit specialist who advised me to wait until I could prove that I was able to raise funds.  They did not want to see me become distracted with the paperwork and thought our time would best be spent laying down the rest of the ground-work first. 
  • December 2015 hosted first CHoP parent’s night in Philadelphia and 8 parents attended! It was amazing to meet the group of parents there and I also met John and Russ (phone) and together we exchanged ideas and saw the need to form a parent organization.  Russ dove in and helped drive most of the website creation.  Together we learned the ins and outs of WordPress!
  • February 2016 Held our first fundraiser in my hometown of Doylestown. Raised ~ $13,000 for CHoP ($875 from STXBP1 Community)
  • Russ surprised me right before our event by making our first website go live just in time for the Charity Ball.
  • Ingo Helbig & Hannah Stamberger  published the largest STXBP1 Study at that time.
  • March 2016 Russ and I began our search for the right registry.  We started working with the Spanish Dravet Foundation to develop a tool that could be customized for use with our children (Wacean).  This platform offeres real-time comparisons of de-identified information and  of medications for families and allows for seizure tracking.  In the end, the patient-entered platform did not seem to be utlized by our families, though we still have this currently available to our families. 
  • April 2016 Theresa Johnson held first 5K for CHoP in Winnipeg in support of Ella! $530 raised from her generous friends & Family.
  • June 2016 Colleagues at work ran a drive for Mitchell and raised over $5,000
  • July 2016 In order to take STXBP1 a little further, I  used personal funds to hire John Crawford (graphic designer) and brought in my good friend Julie Shumaker (SEO/web expert in life sciences) to help us improve the website. 
  • September 2016  I hosted the 2nd STXBP1 CHoP – Hosted event  for 20 parents! While there, I met Jennifer and Melissa and we knew we needed to work together!
  • December 2016 At AES, John, Izabella, and I met Alex Crawford (Zebrafish researcher – Natural products & Drug Re-purposing) in person as well as Mingshan (Mouse Model). We discussed our kids and ways to best work together in the future. 
  • I met various organizations who support registries and learned about some of the benefits and challenges for each.  At this stage, it became clear that Simons VIP probably offered the best option. Simons VIP has counselors on hand to support accurate entry into the system.  The Simons VIP patient registry is Funded by the Simons Foundation, so there is no cost for families or to the STXBP1 Foundation, and it involves minimal patient entry.  Patient-run registries can be difficult to manage and expensive to maintain so Simons really took much of the risk out and offers many benefits.
  • Later in December, I held a call with a handful of parents to determine if this is a tool that we could leverage and the decision was a unanimous YES! 
  • February 2017  2nd Annual Charity Ball held in Doylestown, PA $4,000 raised including $625 from STXBP1 community!
  • I met Charlene and was inspired by her energy, intelligence and kindness and I knew we would build great things in the future. 
  • March 2017  The board began its journey in forming our Non-Profit
  • June 2017 The STXBP1 Foundation became recognized as an official 501(c)3. The STXBP1 Foundation also listed STXBP1 Disorders as its operating company. 

~ Anne Johnson

CSL Behring Makes Generous Donation to STXBP-1

We are inching closer to our first STXBP1 Natural History Study with CHoP! The team is working on an IRB and on Grants to secure additional funding for research so that we may properly fund this effort.

A HUGE Thank you is in order to my amazing company, CSL Behring, and my colleagues for their generous donations. This study will be the first step towards finding a cure, bringing more courageous families together, creating greater awareness, and attracting attention from the best and brightest scientists as physicians alike.


Pictured here: Megan O’Brien (CHoP Registry Coordinator), Dr. Helbig, Dr. Bearden (Leads), Anne Johnson and her son Mitchell, and Cameron Barrett (CSL Behring)