Category Archives: For Families

Marie’s 16th Birthday; the challenge and the joy of it.

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April 22nd was Marie’s 16th birthday. Sweet-sixteens are one of those milestone-type birthdays that you want to celebrate and memorialize. I am writing about Marie’s birthday weekend to do both, but I am also sharing this blog to try to capture for you what is difficult and what is beautiful about this life with Marie and our journey with Ring14 Syndrome.

Marie

Planning

What should we get Marie for this big birthday? What will she value? What will make her feel loved and treasured? How do we mark this milestone as truly special? If you are not a parent of a child with severe intellectual disabilities, you might not understand how hard these questions really are. 

Normal gifts, following the progression from baby to toddler to child to teen to young adult, just do not work. Marie will not be getting her driver’s license this year, so there could  be no car-related gifts and no celebration of new-found independence with friends. We typically fall back on trying to find developmentally appropriate gifts, but it gets harder and harder each year to find something novel or something exciting when your daughter’s interests have not progressed beyond those of a toddler. 

We shifted our focus: instead of a thing, we decided to give Marie an experience that would be built around her. But, again, this is not quite as easy as it sounds. While we wanted to celebrate with everyone who values and loves Marie, we knew that an event best suited for Marie (and my husband!) should be restricted to those individuals with whom she is most comfortable, which is her family. So, we planned a long weekend together with everyone meeting up in San Antonio, found a comfortable house to stay in, and looked forward to an excursion to Morgan’s Wonderland, a special-needs amusement park which had thrilled Marie in the past. We knew from experience that everything about this plan would need to be flexible because the only thing that is predictable in our life with Marie is the unpredictability of it all. You see, Marie has a severe form of epilepsy which has never been very well controlled, and her seizures have no respect for plans, no matter how important.

Birthday Weekend

rough day

When Marie started having seizures on Wednesday night, the day before her birthday, we knew that this was not at all going to go as planned. It is not necessary to go into all the details, so let me summarize by saying that the night — with 5 seizures — took a heavy toll. Instead of Marie’s birthday being the kickoff to our celebratory weekend, it became an all too familiar day of managing her care while trying to avoid the hospital. Marie slept through most of her birthday as monitors beeped and the oxygen concentrator hummed in the background – her bedroom has an assortment of devices that enable us to provide care at home. These types of days are so long and stressful; it was not the birthday we had envisioned.  All plans were put on hold… We decided to reevaluate in the morning in the hopes that we could still slip away. 

We finally left town Friday afternoon after Marie was evaluated by her home healthcare nurse, her lungs were declared clear, and her bowels had again started moving (everything slows down during a seizure cluster). Marie again spent the day sleeping, recovering in the arms of our second daughter while we traveled. Our oldest daughter met us in San Antonio with her boyfriend. No one could wait to share their enthusiasm for being together. We put on hats, sang happy birthday, blew out candles, and opened gifts. Marie was a good sport but could barely hold her head up. Even so, it felt right to be all together. We went to bed hoping for a better day tomorrow.

We took it easy Saturday morning and let the day unfold slowly with coffee, breakfast, and conversation. At 11am, we made our way to Morgan’s Wonderland. Although Marie was not yet up for active play, she did seem to enjoy being strolled about the park, swinging, and riding the train, railed cars, and Ferris wheel. By 2pm, she was wilting, so we went back to the house to relax. That evening, we had a lovely dinner on the veranda at La Cantera Resort and were treated to our first real smiles of the weekend as we pushed Marie over a bumpy path while taking in the view. Ah, she was returning to us again! Yes, we took a picture 😉

I am going to struggle to explain what a blessing Sunday morning was for all of us. It was the celebration we had been waiting for, but it looked nothing like what we had planned. Marie was all smiles, all cuddles, all sweetness, and we literally just soaked it up. We took turns sitting with Marie in the shade on the back porch while watching the others play basketball (I use those words loosely!) and other backyard games. We opted not to go anywhere; we were simply together with Marie in our center and that was more than enough. 

Happy birthday, my sweet-sixteen princess!!!

Reflections

You might ask yourself why we decided to travel on the heels of such a terrible two days, and it is a valid question. Why not postpone? But the truth is that any postponement might have found us in exactly the same situation — let that sink in. It would have been easy to stay (so much less packing!), easy to sink into the sadness, easy to write this off as another botched plan. 

When Marie falls apart, there is the temptation to withdraw; it feels too heavy to share. However, these days are made so much lighter when spent in community, whether that be family, friends, or an extended support group. Never underestimate the power of empathy — you just have to be brave enough and vulnerable enough to let them in.

It is worth noting that not only did we want a special event for Marie, but we also needed it for ourselves. We needed to mark our timeline with something of joy, not a crisis. Instead of defining this birthday as another derailed event, I will choose to remember our wonderful Sunday morning in San Antonio where we celebrated the beauty of this child turning 16 and the value of being together.

This life requires patience, resiliency, and an intentionality to look for the joy — it is there, but often it is found in the shadows, in the quiet, and in the unplanned simple moments. Take note of this joy and fill your bucket every chance you get.  I think this is true regardless of whether your life looks like mine, but it is especially true for those of us who have the privilege and challenge of caring for our special children.  

If this story resonated with you, please consider sharing and/or donating $16 to help children like Marie. Ok, you can donate more if you wish 🙂

Donate to Help kids like Marie

Seizure Action Plan Week

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The Seizure Action Plan Coalition will host the 1st annual Seizure Action Plan Awareness Week, February 8-14, 2020

 Help to Raise Awareness!

Seizure Action Plan Awareness Week offers the opportunity for patients, professionals, and advocacy organizations to learn more about and spread awareness of:

  • what a Seizure Action Plan (SAP) is
  • the importance of a SAP in the health management of those with epilepsy
  • resources to develop an individualized SAP

Learn more about SAPs from the Seizure Action Plan Coalition website. You can also follow the coalition’s Facebook and Twitter accounts to share posts and help raise awareness – be sure to include the official hashtag: #SAPAW2021 

shared from Dravet syndrome Foundation

Ring14 Conferences: Education, Expression, & Connection

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When Matias was diagnosed with Chromosome Ring14 at one year old, we were told that there were only about thirty people in the whole world that shared his diagnosis. I remember feeling completely defeated over his doctors having very little knowledge of this rare chromosome disorder, and alone with no one to turn to – no one who shared our experience.

In 2011, when Matias was five, I searched “Chromosome Ring 14” on Facebook and was shocked and thrilled to find there was a group for people diagnosed with Ring14 and their families. I immediately joined. At that time, the group was still very small although the number of Ring14 diagnosis’ was growing. Still, I felt like I had found our family. And truly, I had.

I was introduced to the Ring14 International non-profit, witnessed Ring14 USA come about, and eventually began serving on the board. While the benefits of having a non-profit for Ring14 are endless, one of my favorites is that starting in 2013, we began organizing family meetings in the USA for Ring14 families. We attended our first family gathering in 2013. In 2016, we expanded the format to include an education component making this our First Ring14 USA Family Conference and our most recent family conference was in 2018. Our next conference is coming up in 2021, and I absolutely can not wait!

Let me tell you why.

Tyler, Matias, Preston, Ari, Colton, and Marie

These conferences have been life changing for our family. We get to meet and hear from doctors, researchers, and experts that are dedicating their time, effort, and knowledge to Ring14 research. We get to ask questions and share our knowledge with them, as well. We often leave with important information to share with our child’s care team. Because we are so used to meeting doctors who haven’t even heard of Ring14, I always leave these conferences feeling full of hope in knowing that there are brilliant minds at work for our loved ones and those diagnosed in the future.

I still have to admit, my favorite part is getting to spend time with the other families. During the conference weekend, the schedule includes time for the families to mingle. I never feel a stronger sense of community than when I am with others who truly understand. Walking in our shoes, that is a rare feeling – to be understood, to share similar experiences, to be able to take and give advice.

Orlando, FL, 2018

To top it all off, conference weekends are always a blast for the whole family. We met other Ring14 families for the first time in 2013 at The Center For Courageous Kids in Scottsville, Kentucky. That weekend there was fishing, horseback riding, dancing, Trick-Or-Treating, and more. We shared the weekend camp with a group of Dravet families from the Epilepsy Foundation. In 2016, we went to Morgan’s Wonderland in San Antonio, TX. Morgan’s Wonderland is an accessible theme park. It was the first time that Matias could do everything his siblings could do, including ride every ride. Our last conference was in Orlando, FL, when the conference was held at Caribe Royale Resort. We spent time in the resort’s super awesome pool with other families, visited Disney Springs, and shared a wonderful farewell dinner together. This year, Ring14 USA is collaborating with Dup15q Alliance and Project 8p for a Colorado conference in July! All the families from these three associations share a very similar life experience. We believe that we can provide richer content together while still maintaining community within each association. For more information, see our conference page.

We will continue to attend Ring14 conferences as often as we can, because Matias gets the experience of knowing other people who share his journey. The connections that he has formed during these weekends have been priceless. My other children have gotten this wonderful experience of growing up alongside other siblings that can relate to them in many ways that most children cannot. They form bonds and relationships with each other. As parents, we get that sense of understanding and community that I mentioned earlier, along with valuable knowledge that we can share with others.

Each Ring14 USA conference we have attended has been a unique experience that will last a lifetime. We are truly grateful for all of the donations, research, time, organization, and effort that make these conferences happen. I look forward to sharing more details about the upcoming conference as they become available!

Living with Ring14

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I think most of us have some ideas of what parenthood will be like when we first embark on our journey of starting a family. We imagine milestones, sibling relationships, and school events from the first day of kindergarten to graduation.

What we don’t really imagine is, well, the unimaginable. We don’t imagine seizures instead of newborn bliss, or hospitalizations in place of that special first-birthday party we planned to a tee. We don’t imagine first ambulance rides before first steps or a diagnosis that changes everything we did imagine.

Matias

When my son, Matias, was diagnosed with a rare chromosomal disorder called Ring14 (Ring Chromosome 14 Syndrome) not long before his first birthday and after months of relentless seizures, I quickly realized that I would need to stop imagining and start learning. Naturally, I grieved (and sometimes still do) the life I thought we might have. Then, I slowly started learning to navigate the life we do have.

What I never expected when we first received that Ring14 diagnosis was that we would find enough joy along our journey to balance the challenges and heartache we would experience.

And those challenges seem endless some days. We often find ourselves submerged in appointments, meetings, therapies, phone calls, and sleep deprivation along with the nearly constant health and behavioral challenges.

As parents, we are also caregivers. As siblings, our other children often sacrifice time and attention for their brother’s well being. And as the one with Ring14, Matias struggles in many ways daily – seizures that overtake his body, legs that don’t carry his weight well, the frustration of being non-verbal, and so much more.

But in the midst of those challenges, Matias has taught us the true meaning of joy and appreciation for life. I often wonder how the same boy who faces these immense struggles is also the happiest person I’ve ever known.

Instead of watching Matias teach his younger siblings how to ride a bike or build with blocks, I watched him teach them compassion and empathy.

While knee deep in seizures, medications, and hospitalizations, we found a Ring14 support group who’s members would become family.

In some of our darkest hours, we learned that light comes from the most unexpected places – a card from a friend, a word from a stranger, the strength of a child.

With Ring14 has come many lessons in perseverance, acceptance, and finding joy where it seems least likely to exist. It has taught us that life is not made of ideas, but experiences. So, although this is not the life we once imagined, it is a life more extraordinary than we could have ever imagined.

By Heather McCain

You can read more blogs by Heather at her website: https://www.mombieneedscoffee.com/

24 Hours in the COVID-19 Ward with Marie

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We are taking the COVID-19 pandemic very seriously in our house. This is because, even under the best of circumstances, our youngest daughter, Marie, is medically fragile due to a rare chromosomal disorder called Ring14 Syndrome. She has several underlying medical conditions, including intractable epilepsy, intellectual disabilities, and a compromised pulmonary system, that put her at high risk for a severe illness from COVID-19. As such, Marie has been almost completely isolated since March 7th. Even our older daughters, who are in college and never turn down an opportunity to see Marie, chose not to come home this spring for fear of introducing the coronavirus (SARS-CoV-2) to our household. Despite all the precautions, Marie was admitted to the COVID ward of our local hospital on Thursday, March 26, due to COVID-like symptoms for a very stressful 24 hours. Below is the story of how we got there and what we learned from this experience.

Marie’s week was a slow decline that did not initially indicate a concern about the coronavirus. Here is how it unfolded: It started with a cluster of seizures that stretched from late Monday evening to Wednesday afternoon.  During this 36-hour window, Marie had 8 tonic/clonic seizures that left her, and us, wiped out. On Wednesday night, although the seizures had relented, Marie started coughing. By Thursday morning she had tremors, an elevated heartrate, and low oxygen saturation. At 10am that morning, we called her pediatrician to weigh the need for an office visit against the risk of exposing Marie to another pathogen. By noon, she was running a fever and had coughed up some bloody sputum. At this point an office visit was necessary. However, COVID-19 was still only a remote concern. We were much more concerned that she had aspirated during her seizures, a fear that was supported by the 4-month-old memory of such an occurrence that left Marie intubated with sepsis in the PICU for a week. This memory was probably on our pediatrician’s mind as well. After examining Marie and once again weighing the risks, our doctor called the ER to advise them that she was sending us there for tests, x-rays, and IV fluids.

Luckily, we live in an area that still only has a few confirmed cases of COVID-19. However, while neither are over-burdened at the moment, the ER and hospital have changed drastically in the last month. At the door of the hospital my husband, Andrew, and I had to decide which of us would accompany Marie, because only one visitor is allowed with pediatric patients. We opted that I would stay with Marie, leaving Andrew with the difficult job of waiting and worrying in the car. Upon entering the hospital, Marie and I were both screened for risk of COVID-19, our temperatures were taken, and then we were triaged to a private room in the ER. Marie’s chest x-ray showed pneumonia of both lower lobes, but all the rapid tests for pathogens, which include Strep, flu, RSV, came back negative.

At this point Marie became a potential COVID-19 patient and a test was administered. The ER staff gave Marie an IV antibiotic to treat her pneumonia as well as IV fluids. Then she was admitted to the COVID-19 ward for observation, out of concern for her ability to decline so rapidly. Hospital placement dictated this placement.

By Friday afternoon, we had an understanding of what was making Marie so sick. She had two bacterial infections one associated with pneumonia and the other with a urinary tract infection. Since Marie was feeling better and now had a bacterial pneumonia diagnosis, we were eager to go home where we have most of the tools necessary to monitor her recovery. Consequently, the hospital released us on Friday evening, pending an anticipated negative COVID-19 test result, which arrived on Sunday afternoon. 

Our experience serves as an example of how children without COVID-19 might still find their way into the hospital during this scary time despite best efforts to avoid it.  Children like Marie are fragile – which means that not only are they at high risk for COVID-19, but they are also at high risk for myriad other complications, none of which cease during this crisis. While we consider ourselves lucky in that we caught these infections early and during a time that our local healthcare system was not yet overloaded, we must now remain at a heighten sense of alert for the next two weeks, in consideration of her potential exposure in the COVID ward. We hope that the need to be hospitalized indeed outweighed the potential exposure.

Based on reflections from this experience, I’ve organized what I hope will be some helpful thoughts for other families to consider if they are facing a similar challenge. I call this PPE for families trying to protect medically fragile children in COVID-19 pandemic, a spin-off of the all too scarce Personal Protective Equipment.

P – Prepare: There is a lot of information out there on how to best protect your family against this pandemic, advice on how to prepare to wait this out at home, and strategies to mitigate potential exposure (see: CDC recommendations for general public, CNF recommendations for the child neurology community, or EF recommendations for the epilepsy community). Under most circumstances home is absolutely the safest place for your child. However, having faced down the hospital with Marie, I encourage you to consider how you might also prepare for the worst: either someone in your family catching this virus or being forced into this healthcare system through an unrelated crisis.

  • Who will care for who if your child gets critically sick? if you get critically sick? Make a plan for all contingencies.
  • If hospitalization is necessary, what will you bring for your child? I encourage you to bring all medications and specialized equipment (VNS magnetic, g-tube supplies, diapering for older children).  What will you bring for you? Personally, we keep a list so we can throw a bag together quickly.
  • Do you have a list readily available of all current medications and a plan of care for you child (seizure plan, feeding schedule, …), so that information can be quickly and reliably passed on to others? If not, consider starting one. Marie’s seizure journal/care diary always goes with us and we keep a current electronic version too.

P – Prioritize: Good crisis management requires the ability to prioritize needs and tasks. Medical experts have been very vocal that during this pandemic we should prioritize staying at home. But should a medical problem arise, you and your doctor will have to weigh the medical needs of your child against the risks of seeking medical help in this environment. Due to COVID-19, more and more often, problems are being assessed, treated, and billed through telemedicine. Please seek out this option whenever possible in order to mitigate risk. However, there are certainly medical conditions which may require in-house assessment and care, such as acute respiratory problems. In such cases, call your doctor’s office first, discuss your options, and mitigate as much risk as possible. Ask any questions you may have that might help you avoid exposure to ERs, hospitals, and doctor’s offices. Always trust yourself to appropriately prioritize medical emergencies such as status epilepticus and trauma.

E – Expectations: Manage your expectations, because no matter how many times your child has been hospitalized in the past, hospitalization in the current environment will be different. Realize that until a rapid response coronavirus (SARS-CoV-2) test is in place, respiratory infections will likely be treated as COVID-19 until proved otherwise. Adult COVID-19 patients must do this alone. However, pediatric patients are currently generally allowed one caregiver. This isolation is real and can be quite hard for the entire family. Hopefully, the capacity of the healthcare system in your area is not overwhelmed but be aware if extreme triage practices start to be implemented in your area. Depending on the level of stress at your hospital, recognize that you may be required to handle more of your child’s care in the hospital because traffic in and out of rooms needs to be minimized. Realize that the doctors and nurses will become mentally and physically exhausted. Treat healthcare providers with gratitude and grace. Anticipate good care but be ready to advocate on your child’s behalf if the need arises.

During this crisis, you must work closely with healthcare professionals to assure that your child receives the care they need while mitigating as much risk as possible. Now, more than ever, you will need to advocate for your child – you know your child best and that makes your voice critical. So, speak up and speak forcibly when necessary. Wishing everyone the best of health. 

Yssa DeWoody, PhD

Mother, Cofounder of Ring14 USA, President of Ring14 International

Toll of Caregiving Trauma

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The toll of caregiving is a well documented fact. We want to equip our parents with tools to help them navigate what can be a very stressful world when caring for a fragile child. Towards that end, we are offering the following programming.

Ring14 USA was excited to join with several other rare epilepsy organizations including The Brain Recovery Project, Hope for HH, Tess Foundation, Phelan-McDermid Syndrome Foundation (PMSF), and Lennox-Gastuat Syndrome (LGS) Foundation – to present a three part series on the Toll of Caregiving in Parents of Children with Medical Issues. Special thanks to Monika Jones and the Brain Recovery Project for coordinating this terrific content.  These webinars were originally live, but were recorded and can now be viewed at your convenience.

Meet the facilitator, Eileen Devine.

Eileen Devine

About the speaker. Eileen Devine is a licensed clinical social worker. You can read more about her here. She is also the author of this blog post. Eileen seeks to provide families with tangible things to do – everything from introspection and reflection (how to do it, why it’s important, etc.) and then more concrete self-care practices that relate to mind/mental health, body (physical health and also nervous system health) and spiritual health. She often also talks about relational stress that is present in family units and parenting partnerships/marriages and what can be done to help strengthen those relationships as well. 

Read Eileen’s blog about parenting children with neurological challenges here.

Webinar #1: Toll of Caregiver Trauma – Part 1

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Webinar #2: Toll of Caregiver Trauma – Part 2

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Webinar #3: Toll of Caregiver Trauma – Part 3

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