Every 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?”
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.