[Congressional Record Volume 161, Number 142 (Wednesday, September 30, 2015)]
[Extensions of Remarks]
[Pages E1391-E1393]
From the Congressional Record Online through the Government Publishing Office [www.gpo.gov]




             IMPROVING RESEARCH AND TREATMENT FOR DYSTONIA

                                 ______
                                 

                       HON. CHRISTOPHER H. SMITH

                             of new jersey

                    in the house of representatives

                     Wednesday, September 30, 2015

  Mr. SMITH of New Jersey. Mr. Speaker, Janice and Len Nachbar of 
Freehold, New Jersey, who lead the Central New Jersey Dystonia Support 
and Action Group, eloquently addressed a congressional briefing 
yesterday on dystonia--a neurological movement disorder characterized 
by muscle contractions causing abnormal and often painful body 
movements and postures. Dystonia can cause a range of impairments, in 
some cases leaving a person legally blind or unable to walk or 
communicate.
   Janice and Len are the loving parents of Joanna, a remarkably brave 
and smart woman who is afflicted with dystonia. Janice and Len 
explained their daughter's multi-year battle with this condition, 
saying in part:

[[Page E1392]]

   ``Eventually, her dystonia became so advanced and painful; she was 
approved for Deep Brain stimulation surgery, or commonly known as, DBS. 
She underwent seven hours of brain surgery while wide awake to implant 
electrodes in her brain with a second surgery to follow.''
   Ultimately, says Janice, ``[Dystonia's] largest tolls are emotional. 
How hard it is to see a bright child with the world open to her 
disintegrate daily.''
   Today, though Joanna faces significant mobility and communication 
challenges, she serves as an online mentor for dystonia patients around 
the globe.
   Mr. Speaker, I would like to submit the Nachbars' compelling 
testimony from the briefing, along with testimony from Janet 
Hieshetter, executive director of the Dystonia Medical Research 
Foundation. I urge my colleagues to read their statements and seek to 
join us in expanding improved research and treatments for this little-
understood condition.


   testimony of janet hieshetter, executive director of the dystonia 
                      medical research foundation

        Thank you all for being here today and joining us for 
     Dystonia Awareness Month. If you don't know a great deal 
     about dystonia, you are in the right place. We have a great 
     line up of speakers that can talk extensively about these 
     conditions.
        My name is Janet Hieshetter, and I am Executive Director 
     of the non-profit Dystonia Medical Research Foundation. The 
     DMRF works to advance medical research and support 
     individuals and families impacted by dystonia. We also work 
     collaboratively with four other patient-driven dystonia 
     organizations, the Benign Essential Blepharospasm Research 
     Foundation, DySTonia, Inc., the National Spasmodic Dysphonia 
     Association and the National Spasmodic Torticollis 
     Association to improve patient care through a nationwide 
     grassroots effort known as the Dystonia Advocacy Network.
        Briefly, dystonia is a neurological movement disorder that 
     is characterized by persistent or intermittent muscle 
     contractions causing abnormal, often repetitive, movements, 
     postures, or both. The movements are usually patterned and 
     twisting, and may resemble a tremor.
        There are multiple forms of dystonia, and dozens of 
     diseases and conditions may include dystonia as a symptom. 
     Dystonia can affect a single body area like the eyelids 
     leaving the person legally blind or be generalized throughout 
     multiple muscle groups in the body--often placing people in 
     wheelchairs.
        Dystonia affects men, women, and children of all ages and 
     backgrounds. Estimates suggest that no fewer than 300,000 
     people are affected in North America. Dystonia causes varying 
     degrees of disability and pain, from mild to severe.
        Thanks in large part to our federal investment in medical 
     research, significant advancements have been made in our 
     understanding of these conditions. While there remains no 
     cure, clinical research has led to meaningful treatment 
     options including botulinum toxin injections and deep brain 
     stimulation.


                       testimony of janice nachbar

        Joanna was a very bright, articulate child. She walked at 
     ten months. She had a high and big voice.
        Her hands always had tremors, but so did those of my 
     mother and grandmother, so we shrugged it off. She also never 
     vomited. A good thing, right.
        She was in the gifted class in first grade. She attended 
     dancing school and gymnastics and was good at both.
        Strange symptoms started appearing between the ages of six 
     and ten. Her handwriting became cramped and her reading was 
     not advancing properly. In the third grade, she was moved out 
     of the gifted class.
        By the sixth grade, she was on the verge of repeating the 
     grade. Although she moved up to the seventh grade, her work 
     was still below grade level.
        We took her to a multitude of specialists, including an 
     eye therapist, reading labs and psychologists, thinking she 
     had a learning disability. Nothing was helping. She became 
     frustrated and felt she was a failure.
        While in High School, Joanna had braces on her teeth. 
     Coincidentally, her speech started to become cluttered and 
     hard to understand. We attributed it to the braces.
        She was classified as a learning disabled student and was 
     placed in a special academic program in school. She was given 
     individual help with her work. We also hired tutors, but her 
     work was still unsatisfactory.
        We knew something was radically wrong when her braces came 
     off and we still could not understand her.
        Physically, she was still functional. She drove her car. 
     After graduation, she became licensed as a home and nursing 
     home aide and briefly was able to work.
        By age 21, her speech was almost gone and she was having 
     pain and spasms. Her back was pulled to the side and her hips 
     were uneven. Her balance was off and she fell repeatedly.
        The first neurologist she saw told us she had Fazio-Land 
     disease. This was a form of muscular dystrophy and we were 
     told she would slowly strangle to death.
        We next took her to a well-known neurologist in a large 
     teaching hospital in NYC. He admitted her to their testing 
     center and spent three days having various medical staff 
     poke, prod and test. He came up with nothing, other than to 
     watch her.
        As parents, we were panicking as we watched her diminish 
     and were fortunate enough to obtain an appointment with Dr. 
     Mark Hallett, Senior Investigator of the Human Motor Control 
     Section of the NINDS.
        Joanna and I traveled to Bethesda and spent an afternoon 
     with Dr. Hallett.
        Thanks to him, and after 15 years of searching, we finally 
     had a diagnosis.
        He referred us to a movement disorder specialist who, 
     coincidentally, was in the same building and one floor below 
     the neurologist she had been seeing for two years, but who 
     had never mentioned the movement disorder clinic in his own 
     department.
        This kind of disconnect by physicians is a huge issue for 
     those seeking a diagnosis and treatment. If a physician does 
     not recognize a movement disorder or avoids a referral to a 
     movement disorder specialist, the patient is helpless.
        After seeing the new movement disorder neurologist, Joanna 
     began taking medications for Dystonia. At this point, the 
     mystery of her school failure was revealed. Her hairdresser 
     commented that her head no longer had minute tremors. 
     Tremors? I never saw them. When the tremors stopped, she 
     could read.
        She didn't have a learning disability; she just couldn't 
     see the page. Imagine how different her school experience 
     would have been with an early diagnosis and treatment? Now 
     she was able to go to a local college and obtain an 
     associate's degree, something none of us could have imagined.
        Eventually, her dystonia became so advanced and painful; 
     she was approved for Deep Brain stimulation surgery, or 
     commonly known as DBS. She underwent seven hours of brain 
     surgery while wide awake to implant electrodes in her brain 
     with a second surgery to follow.
        Some people have miraculous results. Joanna had minimal 
     results, but the DBS did lessen her pain.
        Remember she never vomited? It seems she has no gag 
     reflex. She also cannot cough. As a result, Joanna has had 
     numerous pneumonias, with the last one requiring 11 days in 
     CCU, five days of which on a ventilator. It was a devastating 
     experience for all of us. I spent the entire 11 days next to 
     her, only leaving her side to eat or shower in the hospital 
     or to take a short break when another family member sat with 
     her. All patients need advocates, but a non-verbal one is 
     even more vulnerable.
        Because her dystonia affects her mouth so intensely, she 
     cannot take in enough nourishment to sustain health.
        At 5'3 inches in height, she weighed about 88 pounds. She 
     now has a permanent feeding tube and takes all nutrition and 
     hydration through it.
        She can eat very little, since just about everything is a 
     choking risk and she can't cough to move the food out. Her g 
     tube became infected and she spent 7 weeks in a rehab center. 
     Of course, her dad and I spent 7 weeks there, as well.
        Despite all of these treatments, Joanna's dystonia 
     worsened. She lost all speech, most of the use of her hands 
     and the ability to walk safely.
        My husband and I are aging and were fearful for Joanna's 
     future security. As a family, we made the most difficult 
     decision of a lifetime. In March of 2014, Joanna moved to a 
     long-term care facility in Philadelphia.
        It's a wonderful place and she has many friends, but it's 
     still not the life any of us envisioned for our bright and 
     lively child.
        Dystonia has affected Joanna and us in many ways. 
     Economically, we made huge changes in our work so as to be 
     able to care for her. Her medical bills, hospitalizations and 
     trips to see doctors added up.
        Socially, our family became hermits, avoiding social 
     activities either because Joanna couldn't keep up or we had 
     nobody who could stay with her. We missed birthdays, 
     weddings, family vacations and other important events due to 
     Dystonia.
        The largest tolls are emotional. How hard it is to see a 
     bright child with the world open to her disintegrate daily. 
     How hard is it for Joanna?
        That's our family story and Joanna's journey. Thank you.


                        testimony of len nachbar

        My wife, Janice, spoke to you about how dystonia has 
     affected our daughter, Joanna, and our family. I'm going to 
     tell you about how dystonia changed the lives of members of 
     our New Jersey and Philadelphia support groups and of friends 
     of ours around the country.
        Last week, a bright, beautiful and talented friend in her 
     twenties wrote: ``Feeling so completely broken. Why was I 
     even born? I live in such pain and agony. There is no end in 
     sight.'' She's a graduate student who should have a promising 
     career and life, but the constant pain caused by her dystonia 
     hasn't allowed it.
        Sometimes the pain, the inability to work and the 
     resulting poverty becomes too much to bear. A few years ago, 
     a member of our New Jersey support group attempted to commit 
     suicide. She is also a bright woman and was a graduate 
     student at Rutgers University when dystonia struck.
        Another member of our support group was the Facilities 
     Administrator at a major Philadelphia hospital before he 
     developed dystonia. His neck is involuntarily pulled to the 
     side. He's unable to straighten it. He tried to continue 
     working, but the constant pain made him retire.

[[Page E1393]]

        A member of our New Jersey support group has been a 
     teacher for many years. She loves the career and wants to 
     continue teaching, but says that her school district is 
     trying to force her to resign. A second grade teacher who's a 
     member of our Philadelphia group is still working, but 
     sometimes needs assistance. So far, her colleagues have been 
     able to help her hide the problems.
        A New Jersey Special Ed teacher is an ``expert'' on the 
     accommodations that people with disabilities need. She's 
     angry because her school makes accommodations for her 
     students, but has refused to do so for her. She asked for a 
     chair and a program that would enable her to dictate because 
     she has difficulty writing.
        Dystonia has impacted or ended the careers of many other 
     friends and support group members. The bass member of a 
     singing group can no longer sing. A travel agent can no 
     longer drive and has difficulty speaking to clients. An 
     attorney has similar problems. A guitarist friend, who was a 
     Grammy winner, lost the ability to finger the strings. A 
     French Horn player's lips stopped working properly.
        A half year ago, a story about a Midwest woman in her 
     thirties received a lot of Internet and media attention. Her 
     story was featured on national news programs and she was 
     interviewed on the Today show. The woman had been diagnosed 
     with CP, was treated unsuccessfully for that disease for over 
     thirty years and led a very disabled life. After living as a 
     CP patient for over three decades, she finally received the 
     correct diagnosis: dystonia. Her story is even more 
     frustrating. The woman is one of a minute percentage of 
     dystonia patients who have dopa responsive dystonia. The 
     symptoms that those people have can be controlled by 
     medication. After thirty years, the woman is now leading an 
     almost ``normal'' life.
        Misdiagnosis is common. Many patients are told that their 
     symptoms are psychosomatic.
        A third of the hundreds of thousands of dystonia patients 
     in this country are children. An eight and a half year old 
     girl from New Jersey and a fifteen year old young woman from 
     Connecticut were both diagnosed with CP. Both had unnecessary 
     and very painful surgeries that cut their leg tendons in an 
     attempt to straighten their feet. Both actually have 
     dystonia. A foot turning in is often a first symptom. It 
     wasn't recognized by their pediatricians or by their 
     orthopedists.
        When we started our New Jersey support group, it took our 
     daughter and many of the original members over ten years to 
     be diagnosed correctly. Research conducted by the NIH has 
     shortened that time for many patients. It has also improved 
     the types and number of treatments that are available. 
     However, as our presentations have illustrated, there's much 
     more to learn and it's important to continue funding the 
     research.
        Please help us.
        Thank you.

                          ____________________