Tag Archives: undiagnosed

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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Undiagnosed: Medical Refugees Launches Kickstarter

Several months ago, I had the honor of sharing Braxton’s diagnostic journey with a crew who is currently filming a documentary about Undiagnosed patients across the country.

Braxton’s story is featured to speak about the importance of finding a diagnosis, how a diagnosis can give hope and direction for medical care.  Without a diagnosis, families are left in the dark with no way to plan for the future.  The not knowing is the worst part of the journey.  This documentary aims to bring light to this important population and revolutionize the healthcare industry.

The Kickstarter project for this film kicked off today.  Watch the trailer and please read the letter below and consider donating to help complete this film.  Share this with everyone you know.  The more money we help raise, the faster the documentary can be completed! Thank you for your continued love and support of Braxton.

 

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Dear Friends,

Our Kickstarter crowd funding campaign to raise $150,000 to complete Undiagnosed: Medical Refugees, a groundbreaking documentary film, has now officially begun!

For those of you who haven’t yet heard about this remarkable feature film, Undiagnosed is the untold story of the millions of people just like you whose lives have been devastated due to unknown or unsolved illnesses. What understanding more about the predicament of children and adults in this difficult situation could offer to the future of medicine is astounding, yet this population remains virtually ignored. The creators of this film are dedicated to starting a movement to benefit individuals with undiagnosed illness, as well as the healthcare system they must depend on for assistance.

The success of this campaign  completely depends upon public support, so please donate what you can (BTW there are some great “rewards” your donations) and most importantly, forward this email to as many people as possible– family, friends, co-workers, and any networks in which you participate. Please bear in mind that we must raise every dollar of the $150,000, or else we receive absolutely nothing!

Our team has been shooting this movie for over a year – without pay, and funding everything out-of-pocket. We are now 80% finished with production and need your help to raise the funds necessary to bring the film’s vision to fruition.

You can see the powerful movie trailer and campaign video, as well as follow this documentary’s progress and success on the Kickstarter campaign page:

https://www.kickstarter.com/projects/792434652/undiagnosed-medical-refugees-a-groundbreaking-docu

From the bottom of our hearts, thank you for your generosity in supporting this great cause!!

 

Sincerely,

Crystal Shearman
“UNDIAGNOSED” I PRODUCER UNDIAGNOSED FILMS, LLC

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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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The Difference a Day Makes

Gah, I am a wreck this week! Tomorrow, we finally see Genetics again to go over the results from our Exome Sequencing that we had sent off back in December, and I’m all over the map with my emotions about it.  Tack on following the heartbreaking story of Gavin Leong, news coverage on the explosions in Boston, trying to hire new help in my office, all while Joseph is gone at work and I don’t even know how I am able to think clearly!

Slowly, things are starting to work themselves out.  Joseph has a better idea of his work schedule and should be home soon for his regular time off so I can get a schedule going again (he’ll be here for the appt tomorrow, but then it’s straight back to work).  I finally hired a new person who I think is going to be a great fit so I don’t have to go through the hiring process yet again, and I just stopped watching the news and clicking links because my heart just can’t take anymore.

With a few weights lifted, my focus is now on tomorrow.  Tomorrow, may finally bring us long awaited answers, yet leave us with a million questions I’m sure. Spent this week trying to make sure our medical binder is in order and writing down any question I can think of should we get a diagnosis, and questions of the next steps should we NOT get a diagnosis. How great it would be if we were part of the 20% who receive answers from this test, but 80% is a big number and far more likely. I am hopeful, but preparing for both scenarios.

Tomorrow, we may find out more than we know what to do with.  We learn a diagnosis, whether this was a random gene mutation which would tell us the probability of another child (should we decide to have one) having the same syndrome, and a few other things that I can’t readily recall at the moment.  Needless to say, it’s a huge day and a very important appointment.

Tomorrow, things could be completely different. We could have a reason behind all of the issues little man has had to face so far and an idea of what the future could bring.  Do kids with this syndrome talk? How is their cognitive ability? Likelihood of childhood cancer? Other health issues we need to watch for? Soo many questions.  I know that only time will tell and there is really no way to predict the future, but some preparation would be helpful.  Knowing now what to prepare for and how to help my son and how to help my daughter understand, all things I may actually have some ideas about tomorrow. Hey, we might even have to change the name of our blog?! Living with ___ syndrome??? (Hopefully I’ll come up with something better than that, but my creativity is a little bogged down at the moment)

You know what won’t happen tomorrow? He won’t magically be cured. He won’t take off running and talking. (That’s coming, but not tomorrow.) Nothing about his treatment is going to change.  He is still going to need all of the therapies that we thankfully already have in place.    All of the doctors we already have on board will remain the same.  We may even add a doctor, and the diagnosis may even help the other doctors prepare their treatments better, but they will remain the same.  We are so fortunate to already have a fantastic team of doctors and therapists.

So, why does a diagnosis even matter? On paper, it matters. For insurance, it matters.  For services, it matters.  “Unspecified genetic syndrome” only gets you so far, and to lose any of the doctors, therapies, and services we have would be detrimental.  Braxton has come so far and is doing so well and an official diagnosis would only ensure that he continues to get the treatment he needs.  Some guidelines and expectations would be nice to have as well.  Another big thing would be more support groups.  Being able to find a group of other parents going through the exact same thing.  Being able to see how their children are doing. Having a “seasoned vet” help me when I have questions.  Has anyone reached adulthood with this syndrome? Those kinds of things would be great to know to inspire more hope for us, to help me through the bad days. Knowing that despite everything, it’s all going to be okay.

Most importantly, tomorrow, I’m not going to love my son any less. He isn’t going to be some completely different person. He is going to continue to make progress and exceed expectations.  He is going to be the same joyful, lovable little boy that brings light into all of the lives he touches.

Braxton and big sis <3

Braxton and big sis ❤

Tomorrow, everything could be completely different, yet exactly the same.

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The Power of Community in Blogging

In the past few days, I’ve witnessed something truly amazing in light of probably one of the most horrific stories I’ve read to date.  I recently started following Chasing Rainbows after seeing her blog nominated for Parent’s Magazine’s mommy blogger awards.  Her son is also undiagnosed, so I felt an immediate connection.  As I read through her pages and her posts, her writing really drew me in, and I’ve been following ever since. Her blog was nominated for the “Blog Most Likely to Have You Reaching for the Tissues,” and trust me, you’ll want to have tissues (an entire box) handy when you head over there to read her last few posts.

On Wednesday, I noticed a facebook update from Kate (Author of Chasing Rainbows) that said her son, Gavin, was being airlifted to the hospital because he stopped breathing. My heart fell.  Many families of children with special needs spend far too much time in the hospital due to their child’s illness.  I said a prayer for her and hoped everything would be okay and followed closely for more updates.  Fortunately, for us, Braxton *knock on wood* hasn’t given us too many scares.  The last time he did, he had a 4 day hospital stay due to pneumonia and just that short time was extremely difficult for me.  Watching him literally turn blue and being put on Oxygen is something I never want to see again, but that doesn’t even begin to compare to what Kate is going through.

Late Wednesday, errrr early Thursday actually, Kate updated her blog with this post. She had throughout the day posted updates on her son that he had suffered multiple cardiac arrests and was in critical condition.  After reading her post, I could barely breathe.  The day started out with Gavin waking up with terrible allergies. As their morning progressed, Gavin worsened very quickly.  By the time she got him to the local ER he had had a seizure and gone in to cardiac arrest.  They got him “stable” enough to airlift him to a better equipped hospital. I was baffled.  Allergies.  Something we all deal with. Something Braxton himself struggles with.  Poor kid is always so congested.  He is also undiagnosed, just like Gavin.  Although Braxton doesn’t share all of Gavin’s symptoms, in my heart, I feel like this could have been my kid. It could have been any of our kids.  Syndromes, both diagnosed and undiagnosed, compromise a child’s ability to fight off infection the same way a “typical” child can, but for the undiagnosed child it’s even more difficult because doctors don’t know how to help the child.  Some children with particular syndromes respond better to different treatments…sometimes there is not a “one treatment fits all cure” for illnesses, it very much depends on the child’s system as to what will work.  Not knowing the full story on a child makes it extremely difficult to ensure proper treatment.  This is one of those realities that I try so hard not to think about, but I know it’s something that could happen.

Read through each of the posts on her blog for the full story, but sadly, Gavin was pronounced brain dead earlier this evening and Kate and her husband had already made the decision to pull him off life support if that were the case (brain dead) and donate his organs to help other children in need.  The strength and grace with which Kate has been able to write through this tragedy completely baffles me.  With every post, I have heart wrenching sobs, and I want it all to not be true.  This woman has already suffered so much in her life after multiple miscarriages and the birth of her daughter at 5 1/2 months only to lose her shortly after, and now this.  But still, her faith, her courage, her strength….it defies all odds.

The amazing thing from all of this, is the power of community in blogging.  I found her blog the same way I do many others. I seek out the information, read other peoples posts, read the comments, follow the links to the blogs, bookmark them, check in on them every so often, ‘like’ them on Facebook…the same as many others do.  Many of us who blog, write without holding back.  Our entire heart and soul is all there on the screen for you to read.  I feel like I really know so many complete strangers because of their writing.  When they hurt, I hurt for them too, when they are happy, I celebrate too…the community is truly amazing.  The past few days I have really witnessed this from Kate’s story.  I first saw another popular special needs blogger, from Love That Max, share Kate’s update and offer her prayers.  Then I noticed several other bloggers I follow on Facebook also share her updates.  With every share, Kate gained new followers, new readers, new prayers…I saw her facebook ‘likes’ go from under a thousand to over 6,000 in just days.  All of these people whom she’d never met, were pulling for Gavin, praying for a miracle, praying for her strength, praying for his little brother.  We’re all right there with her, and although we can’t even begin to fathom the pain Kate is going through first hand, we are all heartbroken for her yet have hearts full of joy that Gavin is now set free.  Kate said it best,

Today has truly been the worst day of our lives.  But it’s also been an unexpected gift. Our beautiful first born son was set free.  Now he can talk.  He can run.  He is healed.

To have that clarity, completely astounds me.  I’m not sure I could think that if it were me.  Losing my son without answers is one of the things that terrifies me.  But it’s true, all the things he couldn’t do here on Earth, he can now do in “Heaven’s House” (as Brian, Gavin’s little brother calls it).

Kate, Gavin and her husband, Ed. May the Lord continue to bring you strength and peace through the unthinkable. Thank you for sharing your son with us...  Image from Chasing Rainbows

Kate, Gavin and her husband, Ed. May the Lord continue to bring you strength and peace through the unthinkable. Thank you for sharing your son with us…
Image from Chasing Rainbows

The blogging community (and thousands around the world) pulled together for Kate in her hour of need and will continue as her family grieves and heals from this loss.  It is through this tragedy I’ve learned how connected we all are. I’ve realized the gift I have through writing.  I don’t write to become famous. I really don’t. I don’t write for pity. I write for my own therapy.  My own way of expressing myself in a way I never thought I could.  If any one person comes across my blog and through my writing can be inspired or given hope along their own journey, then that’s truly a gift to me.  As a community, we have the power to lift others, to help them along their journey by sharing on our own, and the ability to share others’ stories in their time of need.  In spite of this tragedy, I’m thankful to belong to such a community.

Tonight, I held my children a little longer as I put them to bed.  Kissed their cheeks and told them how much I loved them, because tomorrow is never promised.  I thanked God that despite our own struggles, our children are doing well. And I prayed for Kate & her husband, and the countless other parents who won’t get to kiss their kids goodnight tonight.

May you rest in peace, sweet Gavin, and know that your story lives on and continues to inspire us all. ❤

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