I saw Dr. Mark Hallett and his team at The National Institutes of Health (NIH) in the department of National Institute of Neurological Disorders and Stroke (NINDS) in early 2017. It was there that I was finally diagnosed with functional paroxysmal dystonia instead of “stress/psychosomatic.”
Functional paroxysmal dystonia falls under the Functional Neurological Disorder (FND) umbrella. It was nice to finally have a real diagnosis after six and a half years. However, as you’ll see towards the end of this post, the doctors at NIH still thought it was stress related because of the horrible assumptions they made.
The Referral and Scheduling the Appointment
A top movement neurologist who works at a teaching hospital referred me to NIH. My appointment at NIH was initially delayed because some of my paperwork got lost. However, I still had to wait a while before I could book my appointment, once my paperwork was received.
If I remember correctly, Dr. Hallet’s team only sees one or two new patients a week. My referring neurologist said the wait is usually six weeks. I think I waited four months but Thanksgiving and Christmas were during that time, and part of my paperwork was lost. If you haven’t heard from NIH in 3 weeks, I highly recommend following up with you referring doctor because something might be missing like in my case.
You will be contacted by a patient coordinator at NIH. She will go over the process with you and let you know what to expect in terms of when you’ll be able to schedule an appointment. The patient coordinator is very kind and helpful, and she will get you answers if your neurologist is not getting back to you.
The Day of the Visit
When you go be mentally prepared for a long day. Also, the building is like a maze. If you’re lucky enough to come across an employee, ask them if they can direct you or better yet lead you to where you need to go.
You will first sign in at the registration department. You will be brought back to speak with someone who will ask you to sign some paperwork. Then they will direct you on where you need to go.
My husband and I had time to eat lunch between the time we registered and our appointment time. They have a place to buy food, or you can bring your own.
A nurse will bring you back and check vitals and ask you some questions.
You will see another neurologist first before seeing Dr. Hallett. You will spend most of your time with this doctor. I believe I was with this doctor for about 2 hours maybe a little more.
This doctor will go through your medical history and perform a lot of tests. Most of my tests were physical tests. By physical tests, the hardest thing I had to do was run and stop quickly, but that was a trigger for me. This portion of the exam was very exhausting to me because the doctor kept triggering my dystonia.
The first neurologist takes notes and then presents your case to a team of other neurologists, including Dr. Hallett. After your case is discussed, the initial neurologist will come to get you. At this point, Dr. Hallett and his team of neurologists (I think there were about 15-20 of them) will see you.
You will be asked to sit next to Dr. Hallett. He was very friendly and not intimidating, but I was still overwhelmed by the number of people in the room.
Dr. Hallett did different tests to try and trigger my symptoms, and he asked me questions about my symptoms and triggers. He then opened it up to the other doctors to ask questions.
It was during this time that they took a video of my episodes. I had to sign a waiver that this was okay.
After that, you’ll go back to the waiting room, and the team will discuss your case again. After the team discusses your case, the initial neurologist will come back and meet with you for a final time. This is when you’ll be given your diagnosis, and next steps for treatment or you will be given a preliminary diagnosis dependent on additional tests.
I received a preliminary diagnosis because they wanted to rule out multiple sclerosis since I was “young” and have a sensitivity to heat. At the VERY end of the appointment, the neurologist asked me if he thought this was stress related, and I said no.
My MRI came back normal, and I followed up a few times with questions, and always spoke with or received a response from the initial neurologist and not from Dr. Hallett.
At the time, I didn’t qualify for the current study at NIH because I’ve had a concussion, and that was a disqualifying factor. I also found out my symptoms/movements presented in a way the doctors had never seen before, which came as a surprise to me. It now makes sense as to why they wanted to videotape my symptoms.
I was told for a study researchers want patients that have similar symptoms so they can compare the patients to one another. With the combination of the concussion and unusual symptom presentation, the likelihood I’ll ever be called for a study is pretty slim.
However, NIH did refer me to a different “study” in Kentucky, which I Iater found out was the Frazier Rehab Motor Retraining (MoRe) program.
Research and Follow up
When I started researching what it meant to have a functional neurological disorder, I found a lecture by Dr. John Stone. In his lecture, he discussed how FND can be diagnosed using positive physical tests, such as the Hoover test. He also mentioned FND should not be used as a catch-all category for unknown medical conditions just because all other tests came back negative.
After I saw this, I was quite curious what NIH would say regarding my diagnosis. I decided to call them back and ask them what symptoms helped them determine my diagnosis was FND.
Now keep in mind, there was no psych evaluations or psych-related questions during my visit, nor did I meet with a psychologist.
The neurologist started off by saying that when my symptoms presented, they were not the same as someone with a genetic form of paroxysmal dyskinesia/dystonia. So they were able to rule that out. This is when I found out that they had never seen someone with my symptoms before.
He then went on to say (without knowing my psych history) that when most people are stressed they present symptoms like crying, panic attacks,…etc. In my case, instead of having these usual symptoms of stress, my body has these movements.
I wanted to freaking yell, “AAARRGGHHH!” But I didn’t because I was at work (that guy got lucky!). I told him as calmly as possible that I do cry and I have a history of panic attacks, which started around age 12/13.
I also mentioned the fact that I had very similar symptoms when I was a toddler for about two weeks. He was shocked and said he’d have to go back and review his notes given this new information.
He started rambling saying that this wasn’t his area of expertise and blah blah blah he circled back around saying it was related to stress. I was pissed and disappointed, to say the least.
This whole conversation could have been avoided or been more productive if they had given me a psych eval or even a psych questionnaire during my visit.
He went on to say I probably wouldn’t be accepted into the Kentucky “study” because my symptoms were so unique. He went on to say researchers are looking for people with similar symptoms so the results can be comparable.
I was so bummed out. The referring neurologist had told me NIH could help me out, and that I could get better. But here I was being passed along again, and this time it seemed, there was no hope for me to find a doctor that could help me.
At the time, I was reluctant to follow through with setting up an appointment with the KY “study.” I had called them, but there the patient coordinator needed to follow up to see if I would qualify for an evaluation because I was able to work part-time.
I hadn’t heard back from them, but my local neurologist encouraged me to reach back out to the KY study. When I called back, I was happily surprised to hear that I could come down for an evaluation at the MoRe program designed by Dr. LeFaver. I also found out that it was a rehab program and not a study.
Although there were disappointments and frustrations with my NIH visit, a great thing actually came out of it. A diagnosis! I finally had a name to call this illness/disorder. I was finally able to find support groups of people who are suffering in the same way I was. It was truly a magical time in my life because for the first time in six and a half years I was no longer alone in my suffering.
Have you been to NIH or are you planning a visit? Please share your experience below.
I wish you all the best in your chronic illness journey.
I attended NIH in 2018. We were there for a week and I spent maybe 40 min total with a physical medical doctor. Much like you there was a myriad of paperwork, getting in assigned a coordinator and scheduled. We actually stayed in a hotel close by with other patients and where shuttles back and forth. My tests usually started by 630am and I was done by 5pm. We did all the normal tests. I have to say I have never in my life seen so much blood taken. I have been suffering from illnesses correctly diagnose and misdiagnosed for 6 years at this part. I do not walk with out a wheelchair or walker. Faint with out cause, one TIA, one Stroke. I have had two severe brain Injuries, but they felt it didn’t have I is going on my muscle issues as they happened after I had been sick. Like you stress seemed to be an undercurrent if any questions. Aside from ekg, eegs, CT’s, skin punch, blood work and more – no one gave a psychological test or questions or delved into thus area. After the 4th day (I had met him in day one as an Introduction), he was friendly but felt he had made up his mind. He asked me a series of questions and saw episodes of my normal every day falling, gait issues, and more. In the appointment he suggested a long list of tests which would be set up for my second return. We were released and headed back home. A letter was received after multiple calls trying to schedule that second visit he indicated was so important. I never received a single call back. The letter stated that i was considered undiagnosable is and u treatable with the exception of thr correctly diagnosed illnesses. They have a clinic just for people like me. Your information is entered into some database and the goal is for your symptoms to match someone else’s. This is rare and can take years upon years to happen. I was very disheartened many of my statements or my husbands were incorrectly documented. I called again to have these corrected – as they were not opinions they were facts from documents we had with us. The reviews of my blood work showed several anomalies that were not explained or expanded upon. In the end we found they ran over 300 different tests on the blood they took. They did a skin punch which they would cultivate if anything happened and I was in need of additional skin cells. Again the referenced letter was found to be full of I consistencies going over my history and in the end reiterated to have me return for a list testing and possible mood disorder. Again not a single mention or question. And all this decided in a 40 min meeting. I left disappointed and discouraged, but yet thinking at least they will retain my information in this database and maybe one day someone will show up like me. Until then I continue to deteriorate. I have had 6 surgeries, I have lost the use of my urinary tract and currently have a permanent catheter. I am in bed unless I have someone with me as I am a huge risk. They have found more illnesses with my local medical team since my visit in 2018. To this day I have not had any emails, letters or phone calls returned. I was seeking counseling due to my two major traumatic head injuries. I asked them to delve into the mood disorders. I was cleared by 3 different doctors. I have some issues due to the impact on my front lobe, communication, and speech. But there is nothing to hint of a mood disorder behind that which is found in brain injuries and living with chronic illnesses and pain. Infact is all the damage done by both injuries the ones I still receive help for are physical, occupational and speech. I was completely cleared of counseling. I miss life. I push myself to do as much as I can. I struggle with steps as in 1) take out the clean plates 2) put clean plates away 3) load dirty dishes. I keep everything written/journaled. I love being in my garden and my desire to paint. These are hampered by my physical ability to be able to stay upright or the pain level. I will continue to fight to have a life for my husband and I. My current most disruptive issue is involving no control of my Urinary system. The abdominal bag was supposed to be a way to fix accidents, constant uncontrollable incontenance. So far my bladder spasms and contracts for hours at a time with severe burning. This comes with out earning and can last 3/6 hours. We cannot it plan to be out or make plans with others as I usually must cancel. We have lost so many friends and family along the way. But I pray one day to continue to search and find answers. I’m 45. I love live. I want to live. Currently we are not living we are existing. I greatly greatly appreciate your post and article and so thankful for your diagnosis. I hope by the time you get this you are doing well and better!!! I thank you for your time in reading such a long response.
Hi Bay – thank you so much for your comment! My heart goes out you and I’m sending you lots of virtual hugs. I hope that you will find out the true cause of everything one day, and I know that sharing your story here will also help someone in the future. Sending you all the best.