Tag Archives: awareness

World RTS Day 2016: Beyond the Medical Facts

world-rts-dayToday is World Rubinstein-Taybi Syndrome Day! World RTS Day is recognized each year on July 3rd. For the past several years, I have shared our story and various medical facts about RTS to raise awareness of this rare condition. (You can read those posts here and here.) While the medical facts are extremely important to know and understand, I have also realized that sharing our life experiences is equally important. Sharing medical facts is important because you never know who you might reach. Perhaps, there is a family out there like us, living in the dark, not knowing what is going on with their child, with a team of doctors baffled and scratching their heads – that family can use the medical facts to finally find answers for their child. That family might not have to wait 2 years for a diagnosis like we did. On the other side, we have to go beyond just the medical facts. We must share our life experiences so that people know what life is really like for individuals with Rubinstein-Taybi Syndrome – it isn’t always as it is portrayed in the research.

So, this year I want to go beyond the Medical Facts. If you’ve followed our blog and Facebook page, you have a great insight into our lives and our journey with Rubinstein-Taybi Syndrome. For those who are new to our journey or parents learning their child’s diagnosis for the first time, here are just a few things I want you to know about RTS this year.

Rubinstein-Taybi Syndrome is not terminal, but it is lifelong. Because of the diagnosis, there are challenges our children will face their entire lives with communication, gross motor skills, dexterity, endurance, living independently, and much more. But, this is not something to be pitied. Our children are resilient. They learn to experience their world in ways we might not have ever imagined. It might take them longer to get there, but they do attain skills like walking, running, jumping, climbing, and much more.

Our children are capable of so much! When I first learned about our diagnosis, words like cancer, developmental delay, musculoskeletal issues jumped off the screen. I immediately began thinking of all the things Braxton would never get to do. He’d never throw a baseball with his dad, never ride a bike, never play on a playground. But, when I joined a Facebook group for families of children with RTS, I found hope. There were families who had children playing baseball, swimming, running, and Special Olympic athletes. I realized that despite what the research said, Braxton had endless opportunities. And, look at him now…. Braxton played Baseball with Miracle League this year, he’s learning to ride his AmTryke tricycle, he loves being in the water, and he enjoys swinging with his sister.

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Our children exude love and happiness. No, not every day is sunshine and rainbows, but most of the time our sweet kiddos have a smile on their face. Don’t get me wrong though, Braxton has a temper like no other! I’m willing to overlook that some days when he flashes that big smile and wraps his arms around me for a big bear hug. 😉 Braxton knows no strangers. He sees the good in all of us and loves unconditionally. The smile is the one almost universal characteristic trait of Rubinstein-Taybi Syndrome.

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The medical challenges are tough and often difficult to handle, especially in the first couple of years. Although we did not have a diagnosis, Braxton’s first two years were incredibly difficult for us. On top of not knowing what was going on with him, we saw over a dozen specialists, he had several surgeries and medical procedures, he was hospitalized once for pneumonia, and he was sick constantly with colds, sinus infections, and ear infections. However, despite these challenges, it DOES GET BETTER! Braxton has been medically stable for the last 3 years. He is making great progress, achieving therapy goals, and staying healthy. We still have all of our specialists, but our visits are down to annual visits and some doctors have simply said, “He looks great, call us if you need us!” I know how difficult those early years are, but hang in there, there is a light at the end of the tunnel.

The fear and the worry never go away, but they do get quieter. I was terrified in the early days and again after getting our diagnosis and reading the medical research on RTS. But, now 3 years after our diagnosis, the fear and the worry no longer consume my life. They are always there in the back of my mind and with every cough, every sniffle, every fall, I wonder if this is going to be the event that turns our world upside down all over again.  I hold my breath for a moment and then I remember to breathe. I can tell you not to worry, not to be scared, but who am I kidding, it’s our parental instinct to worry and be scared for our babies. So, instead I’ll tell you that it’s okay to be worried and be scared, but don’t let it keep you and your baby from living life. Take chances, take risks, hold your breath, but don’t forget to breathe.

Rubinstein-Taybi Syndrome is a diagnosis that is a large part of our child’s life and shapes the experiences and the way our children interact with the world around them. It has it’s challenges, it’s highs and lows, but doesn’t prevent us from living life. I want you to know about the medical facts, how rare it is, and how it effects us, but I also want you to know that our children have the same life experiences as other children. They may require some accommodation and do things a little bit differently, but they love big, play sports, dream, and learn just the same. Learn what makes our babies different, but also learn what makes us the same. Then, we not only have awareness, but we also have inclusion, acceptance, tolerance.

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Why We Celebrate Rare Disease Day

Through the years, I have become extremely passionate about raising awareness of things I never knew existed until I was affected. Also through the years, I have been criticized for “jumping on the bandwagon” to simply share a photo, a ribbon, a video. But, it is about so much more than that. Awareness is simply the first step to so much more. Today I share with you the criticisms and why awareness is so needed.

My Child is More Than a Diagnosis. 

IMG_3474While I do tend to agree with this sentiment, I also struggle because I know my child wouldn’t be who he is without the diagnosis. The very things I love the most about him are tied into the diagnosis. Braxton’s heart-melting smile is actually an almost universal characteristic of all children with Rubinstein-Taybi Syndrome. I love how he gets excited and his arms and body tense up as he moves his arms up and down or in and out. I love his big eyes and to-die-for long eyelashes. I love his short stubby hands. I love how he has taught me to slow down and see the beauty in the unspoken, to not take life for granted, and how to truly love unconditionally. He may not have had these characteristics were it not for RTS. Just because I bring attention to his diagnosis, does not mean that I am demeaning who he is as a person. I want you to see Braxton for Braxton. I want you to see that he is a mischief-makin’-rough-and-tumble-four-year-old little boy. But, I also want you to know what RTS looks like because one day you might run in to a family who lives in doctor’s offices trying to understand what is going on with their child, but no one knows. It took us two long years to find a diagnosis, but we know people who were diagnosed within hours, days, weeks of birth. If RTS were more known we would have had an answer right away instead of the loud voice of the neonatologist saying our son wouldn’t live more than a few weeks. That in itself is reason enough for awareness.

Rubinstein-Taybi Syndrome isn’t a disease. 

Technically, it is. Disease is defined as “a disorder of structure or function in a human, animal, or plant, especially one that produces specific signs or symptoms or that affects a specific location and is not simply a direct result of physical injury.” Rubinstein-Taybi Syndrome is the result of mutations in the CREBBP or EP300 genes which are responsible for making proteins that help control the activity of many other genes. (This is extremely simplified.) Therefore, a mutation in one of these genes is a disorder of structure and function. Unfortunately, the issue is not with the definition of disease, but in the connotation, the meaning implied or associated with the word disease. When most people hear the word “disease” they think of someone who is sick, dying, and searching for a cure. If you use the implied definition of disease, then, no, RTS is not a disease. It is a condition or disorder — but guess what, those words are actually synonyms for disease.

You’re just looking for pity.

No, actually we’re not. I don’t want you to feel sorry for me, my son, or our family. But, I do want you to support the cause. We have met professional after professional whose immediate response after I tell them Braxton has Rubinstein-Taybi Syndrome is “Oh, I’ve never heard of that”- and these are MEDICAL PROFESSIONALS. Doctors, nurses, anesthesiologists, x-ray technicians. The very people who we depend on when Braxton is sick or needs surgery HAVE NEVER HEARD OF HIS CONDITION. But, I can guarantee you that they know what Down Syndrome or Autism are. They’ve probably even had trainings on how to treat patients with Autism. You know why? Because there is now greater AWARENESS of these conditions which has led to more research and publications refuting commonly held stereotypes and myths. That’s all we want as Rare Disease Patients. For the medical community to know who we are and how to meet our needs. I need someone who understands the risks anesthesia brings to Braxton specifically due to his RTS diagnosis. Someone who understands how to read his x-ray while taking in to account underlying bone issues due to his RTS diagnosis. Someone who doesn’t mistake his silence as rudeness. Awareness is extremely important in receiving proper medical care, services, and insurance coverage.

Your Time Could Be Better Spent.

Yes, I have actually been told that I am wasting my time raising awareness, sharing a ribbon, creating a video. That I should be thinking of ways to actually help people, to understand why our children are affected the way they are, to see what needs are not being met through currently available services. Yes, these are all very worthy and need our attention as well, but that costs money. To fund research, to poll focus groups, to help introduce new disability legislation — that all requires financial backing. And do you know how hard it is to fund something people have never heard of? I do. In the work I’ve done with the non-profit, U.R. Our Hope, which helps families of children with Undiagnosed and Rare Diseases, I have seen first-hand how difficult it is to garner support for an issue that is widely unknown. But, in the last 3 years, our events have grown and our reach is spreading. The more awareness we’ve raised, the more money has also come with that awareness. Money that can be used to help families or fund research or fund the creation of an Undiagnosed national database to help patients get a diagnosis faster. Awareness is just the first step in making a difference.

Awareness without Action is Pointless. 

This I do agree with, which is why awareness, for me, isn’t limited to any one specific day and I always, always try to encourage action. Action can be as simple as taking a few minutes to research a new diagnosis or as elaborate as hosting a fundraising event to address a specific need for a Rare Disease Community. Sharing a ribbon or changing your profile picture is not enough. You need to get out and DO SOMETHING. Teach someone about what you have learned. Raise or donate money to a specific cause. Meet someone with a Rare Disease and learn about what they like and don’t like. Learn who they are as a person. Play a game with them. You will surely find more common ground than you think.

Meet some of our RTS brothers and sisters in our Facebook Album.

Learn more about Rubinstein-Taybi Syndrome at www.rubinstein-taybi.org

Donate to the Special Friends Foundation which is dedicated to helping individuals with RTS.

 

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This year and every year, we will celebrate Rare Disease Day because awareness can be the difference in being diagnosed at birth or living for two years wondering when your child will die because that’s what the doctor told you. Awareness matters. It will always matter. 

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You Shouldn’t Wait for it to Offend You Before You Take a Stand

Today is the official day of awareness for the Spread the Word to End the Word campaign.

Per usual, I have been reading posts from various bloggers who I often read, and today a particular post struck a nerve with me – not in a bad way. The author wrote You’re not offended until it affects you as a response to someone who simply does not understand why the word “retard” can cause one to get so “worked up.”

I paused for a moment and let out a not-so-silent Amen! to myself. And then, I paused once more as I thought about my experience and how true that was for me personally. Which then led to me to think, “Wow, it’s such a shame that it took disability directly impacting my life before I changed my mindset.” Finally, I realized how true this is for MOST people.

So many people vehemently defend their “right” to say the r-word by citing their right to free speech among other erroneous excuses (see the article linked above), but what all those excuses boil down to is the fact that they likely have zero experience with people who have intellectual disabilities so they don’t understand the “big deal”.

They don’t know what it’s like to see a loved one struggle with the most basic of tasks, to wonder if their child will ever speak, to wonder if their child will ever walk without a limp, to wonder if their child will ever walk at all. They don’t know the fear in our hearts when we send our child to school for the first time and HOPE that he will be accepted by his peers. Will they tease him because he doesn’t walk fast enough? Or because her speech is slow and difficult to understand? Will they point and laugh because he rides the “short bus”? Will they simply call her a “retard” and walk away?

If these thoughts have never crossed your mind, you’ve probably never second-guessed your “right” to say the r-word either, but that still doesn’t make it okay for you to use the word. When we (parents of children with disabilities) correct you or bring it to your attention, it’s not to embarrass you or chastise you – it’s to educate you because we know you might not have had a clue how that word affects us and our children. We know because we’ve been you.

So many of us grew up using the r-word and never gave it a second thought. But then we grew up and had a child with a disability and “retarded” became part of our child’s diagnosis.  Suddenly, the word lost all of it’s hilarity. I was ashamed and embarrassed that I ever used that word so frivolously. Suddenly, the word had real meaning and it did NOT mean stupid, pathetic, loser, less than, ridiculous or any other word the r-word often replaces. With a single word, our dreams changed, our world turned upside down, and our instinct to protect our child from ever hearing the word kicked in. Suddenly, it became a very “big deal” and it was no longer “just a word.”

You’re not offended until it affects you.

Why should disability have to affect any of us at all before we are offended by the r-word?  I love my child unconditionally with no end, but I would not wish any of the struggles we have had on anyone, simply so that they understand the true significance of a word. Don’t wait until it is too late. 1 in 10 Americans are affected by a Rare Disease. 1 in 68 children have been diagnosed with Autism. The prevalence of other disabilities is just as great. Chances are, you DO know someone with a disability. They may not be YOUR child or YOUR family, but they are human and they have feelings and they deserve your respect. The r-word hurts an entire population of people, just as racial epithets do. It does not belong in our vocabulary and should no longer have a place in our culture. Find the compassion in your heart and hear my words. I don’t want you to know the hurt I have before this issue matters to you. Take a stand NOW. If one day, you learn your child has an intellectual disability you will be spared the shame and embarrassment I faced when that word became more than “just a word.”

 

Take the pledge now and Spread the Word to End the Word.

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Rare Disease Day 2014

Today is the 6th annual Rare Disease Day, which is a day to bring awareness for all rare diseases/conditions.  The theme for this year is “Join Together for Better Care” and I cannot think of a more fitting goal this year.  The more people we can get to come together and be aware of different conditions, the better we will be able to serve individuals through medical care and funding for research.

NORD-Who-Does-Rare-Disease-Affect_DRAFT-2.19.14-e1393025442778In the United States, 30 million Americans have a rare disease.  This breaks down to 1 in 10 Americans, so chances are, someone in your life is struggling with a little known condition. Almost 2/3 of those affected are children.  (Source: NORD)

While the conditions may vary, the experiences for those with rare diseases is very similar for all who are affected.  Imagine going to the doctor and having to explain everything a doctor SHOULD know just so they can treat your child for an illness or operate on your child safely.  This is a reality parents of children with rare disease face day-in and day-out.

When we go to the doctor and I tell them that Braxton has Rubinstein-Taybi Syndrome, the usual response from medical professionals is something like, “It probably won’t surprise you that I don’t know what that is.”  And when Braxton has surgery, I have to educate the anesthesiologist and the nurses about the possible complications Braxton could face while under anesthesia.  It is sad that we live in a society where parents are more educated about conditions than the very doctors they trust with their children. We have made so many advancements in technology, but it is impossible for medical professionals to keep up. Because many people don’t know about RTS, I can’t simply choose another doctor who is familiar with the condition.   With over 7,000 rare diseases, it’s no wonder that doctors are unable to keep up.  They only learn about conditions as they come in contact with them through their patients.

But, we can all help this situation.  As YOU learn about rare diseases, YOU can help spread that knowledge.  Carry some facts with you and when you have the opportunity to share the information, do it! It’s true that simply changing your profile picture does nothing for Braxton’s immediate care, but when you change your picture and provide information about his condition, then you are teaching others and that does help us.  When you share our story, like our photos, comment on our Facebook page, that reaches others and at least exposes them to RTS.  The more people who know about RTS and other rare conditions the more likely it is these patients can find quality care and money to fund research opportunities.  Money is what is standing in the way of finding cures for children who face life threatening illnesses.  Braxton’s condition isn’t terminal, but there are countless children who are fighting big battles just hoping for cures.  Rare Disease Day provides an opportunity for these conditions to be known and hopefully find people to support them.

Rare Disease Day is an opportunity for awareness.  Why does awareness matter? Take a look at this graphic from Siren Interactive about the diagnostic journey.  Did you know that on average, it takes 7 years for a proper diagnosis of a rare disease? SEVEN YEARS!

Click to view the full graphic

Click to view the full graphic

Awareness matters for those who are just waiting for answers.  There are children with Braxton’s condition who were diagnosed at birth or shortly after, and then there are some who weren’t diagnosed until years later.  If more people knew about RTS, these children would be diagnosed right away and the proper medical care could begin immediately.  We could have known from the beginning and I wouldn’t have had so many sleepless night wondering if Braxton was going to live.  This is why awareness matters.  If we knew early on I could have plugged in to all the resources I now have.

Global Genes GraphicWe have to find a way to speed up the diagnostic process.  Many children without a diagnosis die before their 5th birthday, so waiting the average 7 years for a diagnosis is unacceptable.  What’s worse is finding out your child died from a disease that had treatments available and they could have been saved if a diagnosis had been made earlier.  That is just heartbreaking! WE have to do better. WE have to come together for all the children and families searching for answers and cures.  We can all make a difference.

Make the effort to learn about a rare disease today.  If you participate in the “Wear that You Care” campaign today and wear jeans, make sure you tell people who and why you are wearing jeans.  Take that chance to educate, because if even one more person knows about Rubinstein-Taybi syndrome, that is a success for us.  It would be nice to meet someone and not have to explain my child’s condition, I just want them to say, “hey, I’ve heard of that!”

Spread the word and celebrate Rare Disease Day!

Support Rare Disease Day

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