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

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 🙂

Seizure Action Plan Week

Seizure Action Plan Week

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

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!

24 Hours in the COVID-19 Ward with Marie

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.

Toll of Caregiving Trauma

Toll of Caregiving Trauma

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


Webinar #2: Toll of Caregiver Trauma – Part 2


Webinar #3: Toll of Caregiver Trauma – Part 3