Tag Archives: rare disease day

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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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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Hey you, yes YOU, you’re awesome!

Big sister showing love for her brother :)

Big sister showing love for her brother 🙂

Rare Disease Day is winding down, but one thing that isn’t, is our gratitude.  Just a quick post to thank each and every one of you who visited the site, read our posts, clicked around to other posts, shared the blog on facebook, changed your facebook profile/cover picture…the support is truly overwhelming.  Our friends and family never cease to amaze me. I tried to ‘like’ or comment on every single share or picture change, but I honestly lost track, so if I missed you, I’m sorry, but I do thank you from the bottom of my heart! Joseph and I BOTH thank you!

I really hope this doesn’t start to sound old or fake, but we really are so very grateful to you all for sharing our story.  We think Braxton is amazing, but we’re his parents and we’re supposed to, so to know YOU think he’s amazing too, well that just warms our heart.

Continue spreading the word, because Braxton has so much to teach the world.  Destined for greatness.

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Rare Disease Day

Rare Disease Day 2013Today is the 6th Annual Rare Disease Day.  There are 6,000 – 8,000 rare diseases currently identified.  A rare disease in the US is classified as a disease that affects fewer than 200,000 people.  In Europe, it is classified as a disease that affects 1 in 2,000 people.  For many, having a name to the syndrome doesn’t necessarily mean it’s a walk in the park.  Since so few people are affected there is often not enough information available to provide a prognosis for many patients.

Then, you have kids like Braxton.  So rare, that they do not have a diagnosis.  Whatever it is that is affecting Braxton, does not yet have a name.  There are no real statistics available for the number of children who are undiagnosed, but I’m certain Braxton is not alone.  Often times a disease is so rare a child is classified as “undiagnosed” because the specialists they are seeing are not familiar with the disease.  Or the child doesn’t grow in to the diagnosis until later in life because key identifiers are not present at birth.   There are also identifiers that could indicate so many diseases that they really aren’t useful in diagnosis.  It is also possible to have symptoms from two different syndromes that make a diagnosis even more difficult! Genetics is a very tangled web of possibilities! Even the Exome Sequencing test we did really only has a diagnostic rate of about 20%  Our bodies have over 20,000 genes and currently, researchers only know what about 5,000 of them do for us.  Thankfully, technology is constantly advancing, so it’s possible to find a genetic mutation in a gene whose function may not be learned until later on in a child’s life.

I’m so amazed by the medical community and how quickly things develop and change.  Even in Braxton’s 20 months, things have changed.  Exome sequencing was very limited at first, and it is now being offered by more labs and even being covered by insurance.  That’s huge!! Advancements like this are made possible by raising awareness among the general public who can in turn help parents to advocate for legislation and services to help those with rare and undiagnosed diseases.

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That’s what this is all about.  That is why I write.  I keep this blog to continue to promote awareness for the many kids like Braxton.  You never expect something like this to happen, and nothing prepares you for it.  The baby books don’t ever talk about the possibility of having a genetic syndrome.  Reading about it now from us and others who live daily with this diagnosis, might prepare you one day when you find yourself scared that your child is being sent to NICU.  Hopefully, a medical professional finds this blog and learns more about Braxton and eventually contacts us with a test that can possibly diagnose Braxton.  Maybe a medical student finds it and when she begins practicing she comes across a kiddo like Braxton and she can say, Hey, I’m familiar with this.  This isn’t so scary, overwhelming, or what have you. Maybe a legislator finds it and says, wow THIS is what Medicaid pays for, or it’s people like this who NEED more services, and together we CAN do something about it.  The more stories that are put out for the public, the more awareness we can raise for a very real NEED!

Wear That You Care for Braxton

There are over 60 countries participating in World Rare Disease Day 2013 – that is simply phenomenal.  Whether you are a “One and Only” or have a disease that only affects 200 people worldwide, TOGETHER our voice is loud and we can ALL make a difference by standing together to bring awareness.You can join us in supporting Rare Disease Day by visiting the official website and also by visiting the Global Genes Project to learn about the “Wear That You Care” Campaign.  I encourage you to wear your favorite jeans (yes, a play on ‘genes’), share our story, or the story of countless others who are living with a rare disease…if just one more person knows about rare syndromes, then today would be a success.

Here is the official video for Rare Disease Day:

And here is the video from the Texas Mommies of Miracles showing off our miracles living with Rare Diseases and the “Hope” they give us.

Thank you for your support and helping us spread the word!

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