Tag Archives: rare disease

We Should Have Known Sooner

SearchingEvery year, when Braxton’s birthday rolls around, I am full of emotions as I look back on our journey and see how far we’ve come.  This year, that is paired with all of our annual appointments with doctors we haven’t seen in 6 months to a year.  Some still didn’t know Braxton had finally received a diagnosis.

 

 

Doctor: “Did you all ever receive any additional information about a possible diagnosis?”

Me: “Oh, yes we did.  Braxton has Rubinstein-Taybi Syndrome.” 

Doctor: “Oh yea? I have a few patients with that.”

Me: “Umm..that you see currently?”

Doctor: “Absolutely.”

That has been the conversation at more appointments recently than I even want to tell you.  The doctor then proceeds to tell me about all of the things kids with RTS are at risk for from their specialty standpoint.  Outwardly, I am thankful they have heard of RTS and know what to expect.  Inwardly, I’m  furious and screaming.  You knew about RTS? You KNEW this whole time? The WHOLE TIME?! Why on Earth wouldn’t you have said anything before? Did you ever even look at my child!? Just a series of completely flabbergasted questions.

Almost ALL of our specialists very nonchalantly have said they are familiar with RTS and spout off all of these things about other patients.  Our anesthesiologist at Braxton’s tonsillectomy guessed RTS just from looking at the symptoms on Braxton’s chart.  Huh? So why did it take us 2 years to find out!?

I wish I knew why it took so long.  I guess, we know Braxton doesn’t fit “in the box” exactly, but is it really necessary for a child to check off every symptom before a doctor comes to a diagnosis? There was always enough information to make the diagnosis, but it was overlooked.  Even when it was brought directly to their attention, the doctor said “Welllll….he doesn’t really fit because x, y, and z” So because Braxton did not check off a few specific symptoms, we were left in the dark.

Yes, I am thankful and relieved to finally have an answer NOW, but do you know how nice it would have been to know earlier? It would have saved so much fear and heartache.  Sleepless nights where I sat up and watched Braxton sleep, just hoping that he wouldn’t stop breathing or be taken away from us as the doctor’s predicted.  Tireless hours of researching and contacting other parents.  Appointment after appointment where doctors just scratched their head and said come back in 6 months, we’ll see what’s developed.  The NICU doctor didn’t give my kid a month to live and you want me to wait six? What if we don’t have that long?

Braxton looks just like so many other kids with RTS, why didn’t anyone notice it before? Especially when they are currently seeing patients with the same diagnosis.  All RTS kiddos look like they could be related.  Sure, you see some of their parents in them, but their resemblance to one another is striking.

To me, there is no reason why another doctor could not have even hinted at this diagnosis. They spout off statistics and potential problems on a whim, so it’s not like RTS is so rare and unknown to them that they could not have suspected it enough to tell me.  This is the part that is so frustrating to me about our medical system.  Don’t get me wrong, I really love all of our doctors and they have done so much for us, but they’ve also let us down.  When yet another doctor tells me about the MULTIPLE patients they see, I can’t help but be frustrated and upset.

I think that is another reason why I have been so passionate about this Undiagnosed documentary.  Knowing that there are other patients out there like us, who end up being diagnosed with something that is uncommon, but something that there is enough information available for that shouldn’t require such a prolonged diagnostic journey (be it 2 years or 7).  With more awareness and a greater understanding of what life is like, the fears we face, and the struggles we have, maybe the medical community would move toward better networking and the development of an Undiagnosed Disease Registry.  These are things that could save a child’s life and spare a parent the fear of the uncertainty the future might hold, yet they don’t exist.

I am so hopeful for this film and hope that it comes to fruition. And while I don’t think our journey should have taken so long, I’m thankful for the road we have walked because now I can help others and be a voice for them.  Perhaps, like everything in our life, our journey was prolonged for a purpose. I hope that I am fulfilling that purpose through sharing our story and being an advocate for my son and the countless families who have walked this path before me and those who will follow.

 

 

 

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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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Filed under Life, Special Needs Child