We just spent several days in Westminster, Colorado for the latest conference. For the first time, Ring14 USA joined together with two other organizations, Dup15q Alliance and Project 8p, and my opinion is that it was a major success! We quickly realized that Ring14, Dup15q, and 8p have many similarities and that our lives look very much alike, although our children may not share the same diagnosis. We were able to meet many new families and also spend time with other Ring14 families that we have come to know and love.
It struck me while there that fourteen years ago when Matias was diagnosed, I would have never imagined in my wildest dreams that we would be surrounded by such a strong community: other families – including some amazing parents and caregiver advocates, scientists, doctors, neurologists and neuro-psychiatrists, technology experts….
I mean, just people everywhere who love and want to help these amazing kids who face such big hurdles.
This year’s conference was packed with speakers in subjects like development, sleep, technology, epilepsy, genetics, research, peer support, and many more. Our children were even able to participate in patient-led research. It was great to be able to pool our resources and knowledge together with two other great organizations who are striving for similar goals.
When Matias was diagnosed all of those years ago, we were told that his doctors would learn more from him than we would from them. And while that does still remain true, it isn’t just his doctors learning from him anymore… there are whole teams of brilliant minds collaborating to find ways to improve the quality of life for kids born with Ring14 and other similar disorders.
When spending time with other families who are living such parallel lives to ours, even though we are scattered many miles away from one another, our world suddenly seems bigger. I really can’t stress the importance of having a support system when you have a child with extra needs. When we spend so much time feeling isolated, these conferences remind us that we are seen and we are not alone.
And when we do feel alone, we can remember that somewhere out there, under this great big sky, the very same sun rises and sets on an entire community that is in this fight together.
I watch your chest rise and fall under the light of the monitors. You look peaceful in the moment, almost peaceful enough for me to fall asleep. Almost. My eyes burn and each time I blink, sleep tempts me. I can’t stop watching you. Even though I know the monitors will alert me if something happens, I’m so scared…
Baby Matias
Suddenly, your body tenses and your arms fly above your head. Your eyes roll back as every muscle in your body tenses. The monitor starts beeping as your oxygen levels drop. I jump up and hover over the metal crib where you lay as tears swell up in my eyes. I tell you, “It’s okay, Mommy’s here. It’ll be over in a minute.” I don’t feel like it’s okay though, I feel like running into the quiet hallway of the pediatric unit and screaming that something is wrong with my baby, just like I did 7 months prior during your first hospital admission, where I was first told these episodes were seizures. This time, though, I don’t expect any nurses to come running because by now, I’m expected to be able to handle this own my own unless it becomes an “emergency” situation, like if the seizure doesn’t stop.
As the seizure ends, I pick your limp body up and cradle you in my arms. I slowly lower myself into the chair, careful not to tug on any of the wires that are attached to you. Your breathing is shaky and you are unresponsive to my hand stroking your head. I’m so angry. I’m only 19 and you are my first child, and this is not how I envisioned your life would be. I never imagined you would spend your first year in and out of the hospital. I never thought I would watch my child suffer day after day, and be told that some kids just have seizures and no one knows why.
Only, now, everyone wants to know why you’re having seizures because you are having too many. As I gently rock you, my mind takes me back to the first one. You were three months old, it was the middle of the night. I felt you moving and thought you were waking for a bottle. Instead, your eyes rolled into the back of your head and you stopped breathing. I thought you were dying. During the 9-1-1 call, I remember the man on the other end saying to me, “It sounds like he is having a seizure.”
“No,” I said, “It doesn’t look like a seizure.” I didn’t know how many different types there are, yet. I later learned that first seizure was a myoclonic one. What I didn’t know was that it is the beginning of hundreds upon hundreds more of that type, and several others. You went on to have more episodes in the hospital, prompting the doctors to start you on an anti-convulsant medication called Phenobarbital. Unfortunately, even with the new medication, you were back at the hospital within days of being released due to more seizures.
I bring myself back into the present, where I’m sitting with you in the unnervingly still hospital room. We are a few hours from home, away from the people we love, and I feel so alone. Our local hospital decided it was time to transfer you to a bigger, better hospital to start looking for a diagnosis. When they first told me, I thought, “A diagnosis? I thought Epilepsy was the diagnosis?” Even after 7 months of uncontrollable seizures, no one had made it clear to me that Epilepsy could be a symptom of a much bigger diagnosis. Since we arrived, my sweet, tiny baby had been hooked up to monitors, had more than enough blood draws, and had been subject to a very painful spinal tap.
I slowly stand up so I won’t wake you, even though I know you will probably sleep for hours on end after all of the seizures you’ve had. I place you back into the crib and sit back down in the chair, where I will stay awake all night to watch you.
Fast forward….
You are barely over a year old now. You are only 18 pounds, and I have been told you are developmentally delayed. You have started physical therapy because you have low muscle tone. You are on three medications now, but the seizures still come regularly. It is not uncommon for you to have fifty or more in a day. I carefully peel open the envelope that came in the mail today. It’s from the university hospital. On the piece of paper, “chromosome anomaly” is circled. There is a note from the neurologist asking me to call him. My hands are shaking as I pick up the phone, and I feel like everything is in slow motion as I dial the number. I bite my lip hard as I listen to the recording and wait for the beep so I can leave a message. I don’t want to leave a message, I want to talk to the doctor. I need to talk to the doctor. I leave a message.
The next few hours drag by. I pace around the kitchen as you play happily in your play pen. I can’t seem to get my thoughts together. I don’t even know what a chromosome anomaly is. I’m scared. I’m frustrated. God, why? Didn’t I pray every day during my pregnancy for a healthy baby? I was told the seizures would probably stop by the time you turned two, and I realize for the first time that may not be true.
The phone rings.
“Hello?”
“Hi, Heather, this is Dr. Weig.”
The rest of the conversation is a blur. Exact words are lost, but I’m told that something isn’t right with your 14th chromosome and we need to go to Chapel Hill to see a genetics counselor and the neurologist. We make an appointment.
Just days later, we go. There, we are told that you have a rare chromosome disorder called Ring14 and there are only 35 people in the whole world diagnosed with this. You are the only one in North Carolina. Your doctors will be learning more from you than we will from them. Ring14? I’ve never heard of this before, and you are diagnosed with it? I feel like collapsing on the floor, but I don’t even cry. I hold you tight and listen while the doctors tell me that they don’t know how severe your delays will be, or if you will have seizures only during childhood or for your whole life. Then we go home.
At home, I search the internet for more information, but I only find one paragraph on a few different websites. It isn’t encouraging. I read the paragraph over and over. I don’t feel informed, I just feel lost, scared, and so lonely. I blog on MySpace about what I’ve been told. I type, “It can’t be fixed or changed.”
Fast forward….
You turned 15 in February and now have an entire list of diagnosis and medications and procedures. You are not the little boy I imagined, or the physically healthy child I prayed for while pregnant. No, you are far more than I could have ever imagined and without a doubt, the happiest person I know. You don’t need to be fixed or changed. You are non-verbal, but you teach me every day. I’m still scared sometimes, but I’ve learned so much. There are over 200 people diagnosed with Ring14 now. We are even blessed enough to know several of them thanks to the Facebook group we found when you were five. We call them our “Ring14 family.” Some of the amazing mothers of children with Ring14 have started an organization here in the US. I serve on the board, and I will never stop advocating for you. We are not alone in our fight anymore. These days when someone is diagnosed with Ring14, it is much easier to find information and other families.
I used to fear your rareness, how hard it was to find others like you. Now I know, you are a beautiful, rare gem. Yes, your diagnosis of Ring14 changed our lives, but it did not change you. You are my son, my first born, a big brother to 4 siblings. You are happy, you are brilliant, you are amazing, you are funny, you are sweet, you are loved.
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!
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.
