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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.

 

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.

–Anne

 

 

 

Marathon

 

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!

-Anne

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

Inchstones

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?