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Your Pearls of Wisdom – Advice From Parents

Pearls shared at the conference:

Do you have other pearls of wisdom to share with other families?

  • Starting therapy (PT, OT, etc) early. (We don’t have much experience at 11 months)
  • Medical marijuana infused oil stops seizures. Also caregiver CNA program in Colorado
  • One major game changer for KoKo was taking hippotherapy. She loved riding the horse 
  • Good support system, eg. Team at school and family
  • Keto diet. Seizure free for 3 years!
  • ABA
  • Baby Delight Go with me chair = great chair to take on the go up to 75lbs
  • The 6 F-words in childhood disability: Function, Fitness, Fun, Family, Friendships, and Future
  • McMaster University in Canada-CanChild Dr. Peter Rosenbaum
  • Hippotherapy and AAC sign language
  • Obtaining the diagnosis has been a game changer for us. Knowing the culprit behind our sons condition gave us a target to concentrate our energy. Finding STXBP1 facebook community and now the STX BP1 Disorders foundation gives us hope and energy. 
  • Communication device – we use PODD (through school) 
  • Sarah Loving SLP Collier Center at University of Texas at Dallas, helped establish a program for assistive technology. Got Morgan on Words for Life LAMP. 
  • FODMAP diet (reducing/eliminating certain sugars) 
  • Music (Disney movie soundtracks cures times of frustration- keep favorite songs downloaded on your phone)
  • Music has been our best motivator. We hold chimes to motivate her to propel her gait trainer to using music as a calming agent when she is upset. 
  • Just knowing that so many people are
    • 1. Affected by STXBP1
    • 2. That this group has done so much to help families 
  • Self care- its ok to feel overwhelmed at times. I have found that therapy and medication have helped me as a parent 
  • Programs/services/items as a benefit through insurance, especially medical assistance. Look deeper into yours: WIC for under 5yo, ½ price Amazon prime, diapers and wipes are covered, Y memberships with some insurance 
  • Weighted vest (homemade) helps his ataxia and seems to improve gross and fine motor practice
  • Intense therapists have made all the difference. PT makes no excuses and has high expectations. ST is very hands on and uses prompt method which he receives very well. 

What you told us at the SIFM

Hello Families,

Thank you for entrusting us and joining us on this journey. We hope that our combined efforts are making things better for our children.  As promised, I want to share key themes that we learned from the community and researchers.  The raw materials from our family break out session, Menti survey results, and more detail on the output from the researcher discussion on day 1 is also shared here.

Along with the input from our researchers at the SIFM, your perspective will shape the direction of the STXBP1 Foundation. From here, the STXBP1 Foundation will consult with our Advisory Board to determine which types of initiatives we will fund and how we will do this.  This process will be announced and will be transparent to the community.

In closing, we look forward to continuing our collaborations with both the research community and our families.  In the coming months we will be preparing for our STXBP1 3rd annual 5K and also AES. There are also opportunities for involvement and hope that we will see many of you there.

Key Themes – Families (Menti Survey & Breakout Sessions):

  • Communication and Cognition are biggest things families would improve (graph)
  • Gene therapy/ MicroRNA and drug repurposing (including natural products) are areas of greatest interest for long-term research
  • Caregivers will know if a therapy is working based on: Reduced seizures, improved communication, cognition, improvement in motor skills, and by reaching milestones
  • 78% of respondents would definitely participate in a Natural History Study
  • 81% of respondents see no hurdles to joining the Simons registry. 
  • When asked about investment in research in the next 1-5 years, the top choices were gene therapy (35%), drug repurposing (23%), & natural history study (15%). The remaining 27% were split among developing new drugs, animal models, & cell-lines (graph)
  • 96% of respondents would potentially consider gene therapy
  • All respondents were willing to engage in some amount travel to a study site and 96% are willing to be hospitalized for at least 1 day
  • The majority of the community choses to invest in research regardless of direct benefit to their child 
  • The majority of respondents (56%) would consider a phase 3 or would use an already marketed medication 
  • When asked to rate mediations they would give, a medication that: “makes nothing worse”, or “if it works on some symptoms” was rated most highly.
  • The community has a low tolerance for risk; 71% would consider only a medication with a low number of minor side-effects

Key Themes – Researchers:

  • A well-designed, FDA-compliant, prospective natural history study is needed
    •  Must know what to track, what therapies to give, and if there are any degenerative aspects of this disorder (outside of epilepsy)
    • Funding options are limited especially without preliminary data
    • It is important to know what happens in adults
  • An understanding what happens when we overexpress: (ie, make too much) STXBP1 in a variety of cell types & animals is needed
  • Animal results vary from lab to lab and a lack of standardization presents challenges. Standardizing and giving open access to animals and technology may help
  • Understanding the biology of what STXBP1 looks like within a species and across different species will help us to better understand this disorder


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.


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.







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.