Dr. D

He was younger than I imagined. Maybe forty…tops. He was tall and attractive with light brown hair and glasses. He was Yale educated with a B.Sc, an M.Sc, a Ph.D and an MD. My research revealed that he is a pioneer in the field of neurogenetics and our Paediatric Neurologist had told me he is the most brilliant diagnostician he had ever met. Needless to say, his reputation preceded him. His list of medical discoveries and publications was shockingly long. It was the kind of resume I had expected from an older seasoned physician. Not from the young, unassuming man standing in front of me.

He entered the room with an entourage that made him seem more like a celebrity than a neurologist. He quickly introduced himself and the team he brought with him. The doctor then sat down and immediately started asking questions. He had clearly read the gigantic chart in front in him. It took up a whole binder and contained the medical transcripts of my boys from their last eight specialists. He asked mostly new questions, questions not a single doctor or nurse had asked us in four years, which amazed me. I thought we had been asked everything possible, but apparently there were gaps in the previous assessments. It gave me hope that he could be the one to confirm that their issue was indeed neuromuscular.

After he examined the boys, he listened to us talk for an hour, as we explained the symptoms and events that led us to this appointment. I kept trying to rush. Experience had taught me that specialists were always in a hurry. But it was hard, there was just too much information between both boys and so many tests and different doctors. However, this appointment was different. In an action so simple yet so powerful, he became the first doctor to never once look at his watch. And I loved him for it.

After we were done, he leaned forward in his chair placing his elbows on his knees. He looked at me most sincerely and said, “I’m not sure why anyone ever thought this was neuromuscular, It’s not. I’m sorry. I know you’ve been given the run around and I can only imagine how frustrating this process has been.” My heart sank. It was not neuromuscular, and he was going to pass us on the the next specialist just like all the rest. I could feel the lump forming in the back of my throat and I tried to swallow the urge to cry. The search for answers was going to continue. “But,” he went on, “for reasons that professionally frustrate me, I can only say that I’m sorry their Dystonia went missed for so long.”

I froze. I thought I just heard him say something that resembled a diagnosis, but I was too afraid to be told otherwise to ask. Instead I sat frozen and stared at him as he explained, “There are many forms of the disorder so more tests must be done. I wasn’t sure what was wrong, so I brought the whole team. I didn’t want you to have to make a separate appointment to get your questions answered.” I couldn’t believe what I was hearing. Here, in this room, were the answers we’d been searching for years to get. I was beyond surprised that he was opening the door for more questions and not getting ready to kick us out for taking so long. I felt immediate relief. I had something to call what was happening. Dystonia. I also felt validation for all the years I spent feeling like I was crazy. But mostly, I was confused. How could he diagnose so quickly? It seemed so easy and it left me wondering why it had been so hard for everyone else? My husband and I said nothing. We were too overwhelmed. As we stared at him, the doctor leaned forward and placed his hand on top of mine. When he spoke it was as though he knew exactly what I needed to hear, “Ma’am, you are NOT crazy. You are right. Something is hurting your boys. It’s called Dystonia. I want you to know I am confident that I can help them.”

I found myself wrapped around the doctor in a hug entirely too large to be appropriate. He hugged me back and comforted me as I cried. “Thank you!” I said over and over again. His lack of surprise and perfect response to my flood of emotions told me I was not the first mom to flip out on him after receiving a diagnosis.

After I pulled myself together I couldn’t help but ask, “How can you be sure it’s Dystonia?” He just smiled, and informed me that it was as clear and classic a presentation as they come. He had no doubts. All seven members of his team nodded their heads in agreement. “If it’s so classic, how did eight specialists miss it!? How did neurologists miss it!?”, I protested, still confused how the answer was seemingly so obvious. He looked at me with compassion on his face and his answer broke my heart, “It’s one of those things that professionally saddens me,” he explained, “They don’t really teach much about Dystonia in medical school. It’s the third most common movement disorder and yet, somehow, even movement disorder specialists sometimes miss it. Your boys went undiagnosed for so long because there is a lack of awareness within the medical community. I’m sorry.” I nodded to let him know I understood. But I did not. How was it possible all those doctors could not have known!? How could they not be aware of it?! It made me both angry and sad.

After we asked all our questions, he handed me a requisition for DNA tests, prescriptions to help the boy’s pain, and the personal contact information for everyone on the team. As he opened the door to leave, he said to me, “I really think I can help your boys. I’m going to use all my resources to make sure I do.” I smiled at him, and with tears rolling down my face, said, “You know you just changed our life, don’t you?” He just nodded and said, “I hope so ma’am. I really hope so.” He closed the door behind him as he went to see his next patient.

With each new interaction with our neurologist he has continued to impress. His reputation for brilliance is well deserved. But what I was not expecting was his bedside manor. More than any other specialist he understands the importance of our relationship with him. He believes that we are a team and he knows that I see day to day what he cannot. When I tell him what is happening, he believes me. Most importantly, he never forgets that I am a mother. When I email him freaking out late at night because I’m scared that my child is convulsing, he replies right away. Even if he is not “medically” concerned, he knows that for a mother, waiting till the morning is waiting an eternity. No longer do I wrestle with unending fear and helplessness. He has changed our lives in more ways than he could know. We sleep, eat, play, and live better because of one person’s compassion and awareness. My boys have never done so well for so long. Aside from the medicine and information he has given us, it’s his ability to diffuse our fears and believe in us as parents that has made the biggest impact on us. I feel like he has given me back my power as a mother. I feel like for the first time, I have support from someone who can actually help. The feeling is amazing.

It is a feeling I wish more families facing our challenges could experience. Tragically, our experience is a microcosm of what the Dystonia community experiences. But, we are luckier than most. More often than not, patients have to live without ever finding that life altering, compassionate specialist. Dystonia is more common than ALS, Muscular Dystrophy, and Huntington’s Disease. Yet the medical community is not familiar with it. There are roughly half a million families in North America fighting the same battle as me. It saddens me that the system is ill equipped to diagnose and treat them and that they must endlessly struggle with the fear and helplessness that has defined our past four and a half years.

It is my hope that one day families with Dystonia do not have to constantly explain to doctors, nurses and first responders about the cramping and twisted posturing that is Dystonia. And it my prayer, that they will understand Dystonia well enough to have compassion for a disorder that is simultaneously so silent and debilitating. I can only dream that there will be more people with Dystonia hearing, “I know what’s wrong,” and forever have both their lives and families transformed.

So to you Dr. D, thank you for caring about Dystonia! Please know that you are changing the lives of patients that are desperate for answers to questions that so many of your peers are unfortunately unable to answer. My kids will probably never understand just how much you have done for them, but I will never forget. Thank you for your patience, kindness and for not treating me like a crazy mom. But more than anything, thank you for giving my boys back their childhood. It’s the most beautiful gift anyone has ever given them, and I will remain forever in your debt.

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11 thoughts on “Dr. D

    1. Sarah, yes I was so relieved. One of the best days in this whole Journey. It was the beginning of “treatment”. They boys got help and relief. It was a life changing day.

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  1. My wife and I are the parents of an 8 year old boy with DRD, we received his diagnosis when he was about 14 months old, and I know how lucky we were to have a health care professional who recognized this. After reading your post, I was astounded that it is more common than some of the other conditions that you mentioned, although in most dealings with GP’s and our original paediatrician, not one of them had heard of it either. While reading your post, I was moved to tears for your experience, it is so heartening to hear about someone who is so caring and compassionate.

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    1. Gary, thanks for your kind words! I am so glad that you got a diagnosis so quickly. Dystonia is common enough that more medical professionals should be able to recognize it. The lack of knowledge within the medical community is exactly why we need more Dystonia awareness! I’m glad your diagnostic process was not as painful as ours. All my best to your little one 🙂

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  2. I came here via a fb mom group where a link to a reblogging of a past post was shared. http://themighty.com/2015/02/to-the-mean-stranger-who-judged-my-parenting-abilities-thank-you/

    I went digging to find the rest of the story. I am so happy that you found your answers but so sad that you, and so many others, face this uphill climb when they seek help. My child doesn’t have a condition anywhere near this serious but I do know the frustration of going to doctor after doctor and getting absolutely no help. For me, it wasn’t until I took her to an alternative medicine practitioner that we started getting somewhere.

    I also want you to know that your post thanking the mean stranger has many of us resolving or re-resolving NOT to judge parents when we see them in public and we don’t have any idea of the back story. (Honestly, we don’t really even know the whole story about parents we “know” at church and our child’s school.) We parents need to realize the support and understanding we need so badly is what other parents need too. It’s time to STOP the mommy wars.

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    1. Holly, wow. Thank you! I can’t tell you how much it means to me that something I wrote is impacting people and helping them to change their attitudes and actions. It is the biggest compliment I could ever receive☺️ Thank you for reading and for caring enough to reach out. I really appreciate it!

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    2. My coming upon your story is similar to that of Holly mentioned above. I “happened” upon your story first thing this morning because a family member sent it to me, said family member being in a position of having known personally similar circumstances (though not as severe). I sincerely appreciate the information (and insight) that I have gained through the Internet, and yes, through the “oft-maligned” “social media,” in my case, Facebook. In particular, childhood diseases or disabilities that persist lifelong, as well as social issues such as bullying,and LGBTQ issues. Thank you for sharing your insights and experiences. I am deeply affected. I hope that, in turn, I can reach other persons who will also benefit from your information and personal encouragement. I am a great-grandmother, and had the Internet been available in my youth, I strongly feel I would have chosen a profession such that I could help impact the well-being of my fellow humans. May your Higher Power bring blessings upon you and your family. Thank you for sharing.

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      1. Carol, I really appreciate you reading and taking the time to comment. I think it is absolutely wonderful that you keep yourself informed and enjoy learning about different perspectives and issues. You must me the coolest great grandma around! Best wishes to you and your family:)

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  3. I, too, found your blog through your post about the mother on the street. Thank you for your poignant thoughts. One of my parents, two siblings, and I all have dystonia. It affects us all on a daily basis, and just like with your family, receiving diagnoses took a long time. We’ve also experienced a great lack of awareness in the medical community. Just wanted to say thank you for this blog; you are definitely not alone! Keep pressing forward. You can do this. I wish you and your family all the best.

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    1. Thanks you so much for the kind and supportive words. I’m sorry to hear that you are yet another person who went undiagnosed due to lack of awareness. Thank you for reading and for reaching out! I hope you continue to follow our journey and keep in touch!

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  4. Hello, I just found your blog though the FB support group. I can’t tell you how your description in this blog reminded me of our family just a few weeks ago. i thought “Great..another appointment..another dismissal” We talked for almost 2 hours about all we have done so far, all her ailments, everything…he called her an “enigma”..lol. She thought that was funny and was probably thinking like I was..he has no clue. We have been going to Dr’s for over 2 years as one day her joints started hurting, her knee’s were giving out, and her feet totally turned inward at the age of 14. As he watched my daughter walk down the hall and studied her gait, I said to him “you know it is funny because her feet are better in the morning and worse at night:…he looked at me like a light bulb went off in his head. He took us back in the exam room, walked out, got some meds and came back in and sat down. “I think she she DRD”…I know my mouth was hanging open…he said a diagnosis…”take these meds for 5 days 3 times a day and if her feet turn back the right way…she has it..but dont get your hopes up cause it is kinda rare”. OH TOO LATE MISTER! My hopes were so far up I could not get them back…he was the first person to actually even have an idea! So I had to laugh at your blog..cause I felt the exact same way..we walked out and my daughter was like “I know what you are thinking mom and you need to take it down a notch”..smart a$$ I could not help it though..I had him right it down so I could come home and google all night. Turns out she does have it, maybe has it in her torso as well we found out today. I am conflicted, very conflicted. Diagnosis good…disease bad…but there is a treatment…but it is for life…but it could be worse…etc etc. I look forward to reading all your blogs….

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