When I was young, my mom always told me that I should be in the FBI. I was still excellent at finding answers to allusive problems. Nothing ever seemed to get past me. I have quick quit, drive, and determination to find solutions to the hardest questions. These attributes as a child foreshadowed what I would become as a parent of a child with a rare disease. Doctors have told me over, and over that we may never find the answer, there may never be a reason, and we might just have to live with the knowledge that sometimes there are only dead ends. I refuse to believe that we will not find an answer to this elusive question.
For the past five years, I have scoured the internet, searched through medical journals, dropped into dozens of online support groups, and tracked down people that have symptoms and diseases similar to my child. My social life has dwindled because my free-time is spent searching medical web pages and diving deep into the trenches of google searching for answers. While my son has several rare diseases in his body, I know that what he’s experiencing isn’t that rare. I’ve located families all over the world with symptoms like ours. Children that are declining and parents that are desperate for help for their kids. I have sat online with women I’ve only chatted with on Facebook pouring out my soul. We share the similarities and discuss our thoughts on the causes of what is going on with our kids. Online we are united and know that our kids all have “something” and we know there is an answer. The most significant challenge for us is getting a doctor to believe us.
I’ve written before that many times parenting a child that is medically fragile is challenging because you are the real expert. In fact, I wrote that only a day before one of the most horrific appointments of my life as a mother. See – I have been researching my son’s symptoms and watching him decline for months. For the past two years, I have watched my son’s body shut down, his autonomic system loses efficiency, and I have witnessed his quality of life dwindle. He is only five years old, and he needs to rest regularly. Eating by mouth for him is no longer possible, his stomach is shutting down, his heart is deteriorating, and his energy and zest for life is diminishing. As a parent, it’s been heartwrenching to see a child have such reduced quality of life. Children should play, explore, and be sponges to the world around them. He should be jumping, running, skipping, and hunting his way through our backyard. Instead, he is often crumpled in a ball on the floor gasping for breath, choking on air, and wincing in pain.
I’ve cataloged all of these changes and done extensive research on the causes of these issues. Through this research, I’ve connected to families that have symptoms like ours that have been able to give me a name for this disease. For the first time, I’ve felt hope and peace in my heart knowing what is causing my son so much pain. The knowledge has given me skills and methods to improve his quality of life. We have been able to connect to therapists and resources that are enabling him to learn, thrive, and develop despite all that he faces.
The only problem is I can’t get any doctors to believe me.
Well, that’s not entirely true, I just can’t get the doctors that diagnose the disease to believe me. His Gastrointestinal, Endocrine, and Cardiologist all trust me when I tell them what I feel is going on. However, today I went prepared to an appointment with the one doctor that could make the diagnosis, and she refused to listen to anything I had to say.
Before the meeting, she had read his chart and had spent hours reviewing his diagnosis. She had already concluded before we ever stepped foot in her office. Her decision was final. Absolutely nothing I said mattered to her. I was reminded by her I was not a doctor, I lacked experience in genetics, and it was impossible for my son to have two genetic disorders. I know the truth – my son does have two genetic diseases, and it’s not impossible for this to happen. In fact, I see it all the time. I know numerous families around the world that have kids affected by multiple genetic issues that are not connected. Sometimes genetics plays terrible tricks on our kids, and things just seem to blow up. Nothing is impossible when it comes to human biology. I’ve seen impossible things happen every day in the rare disease world. I knew she was wrong.
I sat in a stale, white, and cold room and tears streamed down my face. I yelled at the doctor to stop. I begged her to listen. She wouldn’t hear me. The case was closed.
The funny thing about this is the whole scenario is that this doctor doesn’t know the investigator I have become through this journey. She might have an MD, but I have five years of experience with my son’s disease, and I know for a fact that one day he will be diagnosed with the disorder I’ve discovered. It doesn’t matter to me that she doesn’t believe me because any doctor that says something is impossible has not met my son. My son was born without a pituitary gland and has cheated death.
We were told he might never walk, talk, and would be intellectually disabled.
Guess What? He has crushed all of those goals.
I will never let anyone tell me something is IMPOSSIBLE.
If a doctor isn’t going to work with me, then guess what – we are breaking up with our doctor. I am their customer. WE ARE THEIR CUSTOMERS. We all deserve to be treated with dignity, respect, and for our concerns to be heard. As parents, we have the ability to move on and make changes in our child’s medical care. Never let yourself be made to feel like your opinion doesn’t matter. We know our kids best. Mothers can do more research than the FBI when it comes to our children. We are the ones that often know the answer before they are willing to see it.
If you have experienced a similar situation, keep on fighting. We cannot be satisfied with doctors that are arrogant and unwilling to respect our voice. Our voices matter. Our children’s lives matter. We do not have to settle with never finding answers for our kids because all mysteries have the possibility of being solved.
No doctor will ever outsmart us! Mothers ALWAYS know best.