Recent sickness …
My daughter Talynn was born with a rare genetic syndrome called Bohring-Opitz. There are fewer than 60 cases in the world. Yes, only 60 and I’m pretty blessed to have had one! On a typical day , Talynn is a happy, playful, rolling, noisy, sweet little girl. Since Talynn’s personality is amazing it makes it hard when the non-typical days start. When Talynn isn’t feeling good she will sleep 20-22hrs a day, start gagging/ retching, spitting if she is awake (her way of saying she doesn’t feel good), and recently have an increase in body temperature and heart rate at night.
A couple months ago, Talynn started her sleep cycle (we call them cycles because they come and go). Once the cycle starts it only takes a few days and then the gagging / retching, spitting, temperature , high heart rate begin. We had to cancel her 2nd birthday party because of it. Well she went to the doctor and he thought she had a GI bug, that was fine until 2 weeks later her symptoms were the same. Then we went back to her PCP, this time we weren’t exactly sure what was going on but her physical appearance looked good. A week later , I finally convinced him to do blood work, well of course the blood work is normal. We are now in week 6 of this and not a clue what’s going on. Well two nights ago Talynn’s fever spiked (102.3) and heart rate increased (193). I called the PCP once again but this time received the dreaded words “take her to the ER”.
For the “normal” child taking them to the ER maybe okay but a child with a rare syndrome it’s not really your favorite place to be. The whole way there I’m trying to get in the mindset of being asked a bizzillion questions over and over, explaining Talynn’s condition , and her entire medical history to different people over and over. It’s already a stressful situation having a child sick but do I really want to relive her entire medical history by having to explain it over and over.
So we get to the ER and it begins… Round 1 of the questions start, What brings you in today? How long has she been sick? What are her symptoms? What is her temperature? Has she been seen by PCP? What is Bohring-Opitz? Then back to the waiting room until they call you back. Now , Round 2 of the questions start,
What brings you in today? How long has she been sick? What are her symptoms? What is her temperature? Has she been seen by PCP? What is Bohring-Opitz?. One last time until all people have been met, What brings you in today? How long has she been sick? What are her symptoms? What is her temperature? Has she been seen by PCP? What is Bohring-Opitz?.
I often wonder why they ask so many times ,aren’t they supposed to be communicating or isn’t it in her chart and are they even listening . Oh well, we answer anyway. After tests are done we usually get the same response “everything looks normal”. Sheesh! That doesn’t help me one bit . I know something is wrong with our girl but I nor the doctors have a clue. We got the viral panel back and it did show she had coronavirus (at this point I need a Corona 😂). This explains her symptoms for the last week but not two months. So now we put our heads together and try to figure out what is causing her to be like this. Thank goodness we have doctors willing to work together with us. As a parent of a special needs , I’ve learned to always question every decision and that I make the final call because ultimately no one knows about BOS besides the parents/ caregivers of BOS . So when I have a team willing to work with me it makes it a lot easier. Now, we start going through the different options of what could be going on.
We are blessed with such amazing support and we feel the love and prayers that everyone is sending. Our little girl is a sweet blessing and little puzzle all at the same time. 😊
-Mommy of BOS