Tag Archives: diagnostic journey

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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One Year After the Diagnosis

It’s hard to believe that it has been exactly one year since we finally learned Braxton’s diagnosis.

I went back and read my entries leading up to the day we received our results and even a few weeks after, and I recognize that there has been so much personal growth.  I am in a very different place now and continue to grow with every passing day.

Before we received our diagnosis, life was full of questions, uncertainty, fear, confusion, frustration, and a host of many other unpleasant feelings.  It was so difficult to have to go to the doctor and tell them that I had no idea what was going on with my son.  Braxton’s care was entirely symptomatic.  As new things came up, we treated that specific issue, but had no idea how it fit in to “the big picture.”  It was as if we were grasping at straws just hoping that something would work.

Outwardly, we presented our best face and tried to remain positive, but the battle within was constant.  There were so many sleepless nights and nights full of tears simply because I felt as though I’d failed as a parent and felt that the medical community had failed us.  I was always grateful for our team of doctors, but always, always felt like more could have been done, like more should have been done.  But, alas, “coulda, shoulda, woulda” changes nothing.

Life after the diagnosis has been a dramatic difference.  Sitting in the doctor’s office one year ago, I remember my uneasy breathing and grasping the chair beneath me until my knuckles were white, until the doctor walked in.  When she finally delivered the news, I remember exhaling, a weight being lifted, and even smiling because I had already known what the doctor just told me.  I will always be grateful to the few people who reached out to us through our blog to suggest Rubinstein-Taybi Syndrome.  Doing my research then, helped me accept the diagnosis in the office that day.  It was familiar, it was not life-threatening, I was at peace.  I was relieved.

BraxtonThe first few weeks of researching and trying to explain things to our family was very difficult.  Our family members learned and dealt with it in their own way.  Some are still coping.  Some still believe that Braxton will magically be “cured” of RTS, although there is nothing to cure.  You can’t change genetics.  Braxton is who Braxton is going to be for the rest of his life.  He is loving. He is full of joy. He is full of spirit. He is full of drive and determination. He is a fighter. He is just like any other 2-yr old daredevil little boy. He may not move as fast, but he is well on his way.  Our family has been supportive every step of the way.  We have all grown and we have all come together.

Every day is a little bit easier.  Life is still full of therapy, but the doctor’s visits are less than before the diagnosis.  Most of the doctors are now seeing Braxton on an annual basis, with the exception of his Cardiologist who still monitors his heart closely.  Now that we have a diagnosis, our care is more focused.  I know some of the issues we will face and how other families have dealt with them, which has helped tremendously.  I can make informed suggestions to our doctors based on real experiences.

Our therapy goals are now geared toward the things we know will present difficulty.  We know Braxton will walk, so we are really pushing that goal and even his daycare is doing everything they can to get Braxton there.  We purchased a medical stroller instead of a wheelchair because we know Braxton will walk soon.   We know that Speech will be our greatest difficulty so we are trying many different methods of communication.  Braxton is still not picking up any sign language, but he has taken to the iPad and successfully demonstrated purposeful choice-making.  We’re now moving forward with a grant to purchase an iPad and augmentative communication program.  We’re still using sign language and picture cards, but we know this is what he is going to need long term, so we are able to provide medical documentation for a grant.  Before the diagnosis it may not have been so easy.

There is a whole other world of possibilities that has opened up for us now that we have some insight in to exactly what is going on with Braxton.  I can make decisions with more confidence and have more options available.  I felt stuck before the diagnosis and just accepted most of what the doctors recommended, because I didn’t want to look back in hindsight and wish I would have done more.

We have a new support group that has been fantastic.  In the first few weeks after the diagnosis, I asked A LOT of questions on the Facebook group and Listserv. Thankfully, so many shared their experiences and put my worries at ease.  A year later, I can now welcome new parents and share our own experiences. I’ve had parents reach out and tell me that my blog helped them come to terms with the diagnosis and to a place of acceptance. We have come full-circle.  There is a sense of family among our diagnosis and at any given time I can reach out for support and answers.  That is, perhaps, one of the most important differences in life before and after the diagnosis.  Before, I could reach out to families who had similar experiences but due to their specific diagnosis, it was handled differently than Braxton would have been.  I was thankful for the support and guidance, but it never really quite fit exactly.  After diagnosis, I see/hear stories and think “Oh my, that is EXACTLY how it happened with Braxton.  Here is what worked for us…” We finally have a “medical home,” a group of people who truly understand, people who have “been there, done that” who can offer advice and words of wisdom. It has truly made such a difference.

Braxton has grown tremendously and is making wonderful progress.  His receptive language is getting better every day and he is finally showing real signs of understanding.  His gross motor skills are taking off as well.  He is cruising like a champ, “knee-walking” all over the place and taking independent steps during therapy.  His is eating almost completely on his own now.  He will eat about 30 ounces a day by mouth and he gets one bottle via g-tube just to supplement calories.  He is even starting to drink now! With most of my worries gone, I can focus on all of the amazing things Braxton is doing and just be in the moment.  And the moments are incredible. Positivity is no longer something we pretend, it just comes naturally.  We are still going to have hard days ahead, but I am better equipped to face them and I know I don’t have to face them alone.

 

 

This anniversary comes just before “Undiagnosed Children’s Day” and I am reminded that there are still so many searching for what we have found.  The average journey to rare diagnosis takes about 7 years.  Yes, SEVEN years.  Our diagnostic journey was significantly shorter than the average but still took quite a toll on us. I can only imagine the families who are in agony and still searching.  To those families, I say please don’t ever give up hope.  Soon the answers you seek will find you.

To everyone else, I say please keep these families in your thoughts and prayers.  Continue to support the organizations who serve the Undiagnosed and Rare community because it is those organizations that helped lift us through the hard times.  I don’t know where we would be were it not for U.R. Our Hope and our Physical Therapist who helped guide our journey.  I’m grateful to them for fighting the fight.  And I’m so proud of the documentary team who is filming “Undiagnosed: Medical Refugees.” I hope this film comes to fruition and the world learns what we have had to face and why answers are so important.  More can be done and more needs to be done for these families.

 

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Simply click to vote! It's THAT easy. Then feel free to browse some other really great mommy blogs. Thank you!

Simply click to vote! It’s THAT easy. Then feel free to browse some other really great mommy blogs. Thank you!

 

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Vote for Our SXSW Panel Idea!

Friends and Braxton supporters, I need your help!

As you all know, I’ve been very involved with U.R. Our Hope and they helped us so much as we struggled to find a diagnosis.  I have been asked to join a panel discussion with U.R. Our Hope and others to discuss the use of online resources, social media, and blogging to navigate the healthcare system while on a diagnostic journey.

When I was finally ready to share my story, the internet was my saving grace.  It is through the internet, my blog, and Facebook that I have been able to learn so much and connect with so many people.  In fact, it is through my blog that I first learned about Braxton’s diagnosis! I had several people contact me asking if he had been tested for Rubinstein-Taybi Syndrome well before our geneticist even thought it a possibility.  Reading about it ahead of time made the news much more tolerable and I was truly finally able to breathe when we received our test results.  Having someone to walk this journey with me, being able to connect with other parents, learning about “real life” experiences instead of relying on “textbook” definitions has helped immensely.  I want to reach other people and help them in the same way that I have been helped.

If you know anything about South by Southwest (SXSW), you know that people from all over the world and from all walks of life attend this event.  This would be the ultimate chance to reach out to others and let them know they are not alone.  The internet has made so much more possible for me and for many others I know.  I honestly do not think I could have survived this and be the parent that I am 20 years ago.  The information and resources readily available via the internet are simply astonishing.  Help us help others!

All you have to do is vote for our panel ideas by clicking the links below.  They will also be in the sidebar of our site until voting ends September 6th! You do have to create a Panel Picker account, but it’s quick and easy. I promise! Create an account, click the “thumbs up” to vote for BOTH of our panels and that’s it! You’re all done! You can only vote once, but we would so greatly appreciate it if you did! If so inclined, you can even leave a comment to tell others who are browsing through topics why they should choose ours! Or if you have any questions, leave them there and we’ll be happy to answer them.

Using Social Media to Navigate Healthcare

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Medical professionals, patients, and savvy navigators of the healthcare system will discuss resources to use when traditional channels are not effective or timely when a person or a family is faced with a medical crisis. The healthcare system can be daunting to those unfamiliar with the language and culture of the medical community. The benefits of online education, support groups, blogs, radio blog shows, Facebook groups will be explored. We will give specific examples of how individuals and families can benefit from utilizing social media on their diagnostic journey. We will discuss the benefits of having a patient advocate, whether it be an individual or an online community. We will talk about how to protect your privacy in this open and public forum. From finding a diagnosis to negotiating with healthcare networks, third party payers, and providers to have services covered, we will delve into the pitfalls that hinder effective care, and then provide solutions.

On a Diagnostic Journey

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Navigating the healthcare system when the diagnosis is not clear is a daunting process. Individuals with undiagnosed disorders lack identity and are often isolated and forgotten. This panel will provide resources to assist those with undiagnosed disorders in finding answers through advocacy and collaboration. On the panel are both individuals who know the undiagnosed journey, and those whose mission it is to guide and advocate for them. Utilizing social media, Skype, online support groups, blogs, and radio blog shows the panel members have been able to reach out “without walls” to help the undiagnosed community.

 

Thank you all so much for supporting this important mission!

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Reflections on the Journey

Today was a pretty exciting day for us! A while back, our friend, Dr. Mary Elizabeth Parker of U.R. Our Hope asked us to be on a Blog Talk Radio Show with Hari Khalsa to talk about how the journey changes once you finally have a diagnosis. We were also able to contact KXAN to help promote the radio show and also give them an update after our visit back in February.

We were scheduled to be on KXAN today, but unfortunately the station was covering the French Open and wasn’t able to have a noon newscast. They asked us to come in anyway and we taped our segment instead. It will air Monday, June 17th!! As soon as a link is available, I will post it. But again, the staff was so incredibly nice and it was a great experience.

KXAN Anchor Brian Sanders, Me, Brax, Aileen, Dr. Mary Elizabeth Parker, and Hari Khalsa

KXAN Anchor Brian Sanders, Me, Brax, Aileen, Dr. Mary Elizabeth Parker, and Hari Khalsa

We did go on with the radio show as planned though! Hari Khalsa, The Healthcare Whisperer, is a Nurse Practitioner and Patient Healthcare advocate and her radio show features patient stories about navigating the healthcare system. In the past, she’s interviewed some of the other families in U.R. Our Hope about their undiagnosed journey and of course Dr. Parker about the organization in general. Today’s show was about how that journey changes once you finally have a diagnosis. Myself and another mom I’ve met through U.R. Our Hope had a chance to share our stories and what the journey has been like for us since getting our diagnosis. This was such a wonderful opportunity and I’m so grateful to Hari for having us on and to Mary Elizabeth for thinking about us to be on the show.

You can listen to the show in it’s entirety by clicking this link or listening below! The show is an hour long, so you can definitely bookmark it and come back, or save it so you can listen while you’re stuck in traffic.

Listen here!!

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