NBC10 in Philadelphia featured a story on Bernadette Scarduzio, one of HNF’s most prominent partners who is the subject of an upcoming documentary, Bernadette. HNF sponsored the making of this documentary which is scheduled to be released in the coming months. NBC talked with Bernadette about living with Charcot-Marie-Tooth, helping to educate others and raise much-needed awareness.
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CMT Speak Out - #CMTspeakout Charcot-Marie-Tooth (CMT) disease is one of the most common yet...
HNF is proud to present “CMT Presents,” a virtual presentation series designed to spread awareness in the communities, companies, and groups closest to you!
Charcot-Marie-Tooth disease is one of several hereditary neuropathies that affect the peripheral nervous system. CMT affects about 1 in every 2,500 people, making it one of the most common inherited neurological disorders worldwide.
Following the recent interview of country music star, Alan Jackson, with Jenna Bush Hagar on the TODAY Show where he revealed that he has balance issues related to his CMT, Prevention magazine contacted HNF for more information about CMT. HNF Founder, Allison Moore was quoted in the article:
HNF would like to invite all dog owners (and non dog-owners) and their furry besties to take a bite out of CMT this September.
Addie rewrote Try by Pink into a song about her disease and recorded it to raise awareness.
CMT has been an unexposed disease for many decades, but HNF’s mission is to change that. For over 9 years, HNF has been connecting to Neurologists at important meetings.
Global Genes, in partnership with the University of Pennsylvania School of Medicine Orphan Disease Center, will host the 2018 RARE Patient Advocacy Symposium in Philadelphia on May 19th, 2018.
Start the New Year by getting involved and helping HNF conquer CMT. There are many ways you can get involved.
I suspect I have CMT. My right foot went completely limp for about 2 hours when I was 9 and both feet did that for two days about 7 years ago. Does anyone else with CMT have a similar experience?
I too have CMT & it’s so good to hear other with the same problems…I was diagnosed back in 2000. My dad & my Brother also have it. My older brother is fine. I also have major heqaring loss in both ears & wear AFO’s.
Is CMT sometimes misdiagnosed as MS? Is CMT related to Ehlers-Danlos syndrome?
I WAS SO GLAD TO HEAR ABOUT THE NEWS ABOUT A DOCUMENTARY BEING MADE…. I HAVE THREE BROTHERS, AND A SISTER THAT LIVE WITH IT EVERYDAY AND I SEE WHAT IT HAS DONE TO THEM MY PRAYERS FOR U AND YOUR FAMILY……
I’m very excited to see this documentary ! My husband and several of his family members suffer from CMT as well as hearing loss due to this illness . Does anyone suffer from intestinal problems also ? Concerned for family who has constant digestive problems …
My Dad came from Italy & had CMT & I also have it. He always said the diesease came over from Europe, has anyone else ever heard that?
Yes, our family is originally from Germany.
My son was diagnosed with CMT at the age of 10 when I took him to a podiatrist to check out the possibilities of orthotic shoe inserts. He started falling a lot and he always had struggled with the inability to run and jump like his friends. For many years, we just thought it was a combination of lack of effort and coordination.
The podiatrist knew right away and it wasn’t long afterwards that Texas Scottish Rite Hospital for Crippled Children confirmed his diagnosis of CMT. His feet had severe high arches and every toe was curled. He ended up getting tendon transfers done in both feet which required him to be in casts up to his knees on the both lower extremities in order to save his hip joints. For years after his surgery, he did great and falling was something of the past; however, at 15 yo, he began having major digestive problems which ultimately led to small bowel intestinal failure. The nerves in his small intestines stopped working much like the ones had done earlier in life in his feet.
He battled and fought courageously for 6 long years having to take in all his nutrition through IV. If he tried to eat, it wasn’t digested or absorbed and he vomited like crazy along with diarrhea.
The answer to the question on whether CMT can effect digestion…YES it can.
My sister and I married brothers and not only did my son have a severe form of CMT, but so do all 3 of her daughters along with either malabsorption problems or persistent vomiting and diarrhea. All in the early 20’s, they all rely on walkers and it wheelchairs to get around. Which ever form of CMT they have, it is definitely the wickedest
I too, found I had CMT in my forties, and now at 59 the disease continues to progress. I lead and active and involved life and am thankful for everyday, but do wish others would understand my fatigue, and bouts of depression. The pain I handle. I choose to continue on at 200% but when I only am up to 80% on some days there is a true lack of understanding and knowledge of CMT amongst my co-workers. Thank you for sharing this with the world. My sister, her children, my mom and family understand and battle this disease. There are many forms of CMT, it affects your extremities first, hands, feet, lower legs making normal activities much more effort and slowly progresses. My thoughts and prayers are with all of you who have CMT. Let’s get the word out. Education is power.
Catherine,
Thank you for sharing this link with us. I am more knowledgeable because of it and you.
May you have the strength you need and friends abound around you.
You know I love ya and care about you.
dan
Thank you for the indeph journal of your journey. My granddaughter started walking at 18 months old. She had numerous falls. Kindergarten was horrific with falls at least once a week. We went to numerous Dr.s including neurologist saying she would grow out of it. Finally age 6 diagnosis with ED from orthopedic doctor. At age 9 diagnosed with Marie Charcot as well through orthopedic doctor, as well after genetic testing. She was bullied at school because of her walk and shoes with flares made fun of. She had surgery on right deformed foot last year and recently on left. Now 13 being homeschooled. She had low self-esteem because of the bully’s. She has bulimia and anorexia. She is beautiful and thinks she is not. It’s a battle but is much better since she isn’t walking on her ankles anymore. She will always have to wear braces but walks fairly normal now. It’s a shame Dr s aren’t aware more of these conditions. Thanks to research and people’s voices we are starting to be more aware.
I live day by day with CMT…wasn’t even diagnosed until I was 53, but I have always had symptoms. I was a clumsy child, fell a lot and couldn’t run well…even had my PE Instructor make fun of me in high school when I couldn’t keep up with others. I take V3 from Voyager Health every day to give me energy and help with depression. It has been such an important factor in my life and I am thankful that I have found it. I am looking forward to seeing this documentary and hopeful that it will spread the word about this disease. Please take the time to learn more about this, it could help someone you love!
I was diagnosed with CMT in 2005.I am 32 years old. I started noticing symptoms when I was 24. I noticed that when I would wake up from taking a nap or waking up in the morning that I would fall to the ground. I couldn’t feel my legs. This was extremely scary to me. I knew something must be wrong. I have braces for my legs during the day and I have braces for night time use. They are supposed to help my ankles. I have a right foot drop.
I am so happy that she is coming out with this documentary.
I have extreme fatigue, weakness and pain. I have an awesome husband that takes care of me. I hope this brings awareness to this disease and hopefully one day find medicine that will help with all the pain that comes with CMT.
I would love to meet her one day.
Bernadette’s story is long overdue, I am thrilled that she is willing to expose her story for others to learn about CMT. I have had the privilege of working one-on one with a CMT patient for the last 4 years teaching him my corrective exercise format, Yoga Tune Up®. His pain has significantly changed, he has lost more than 50 unwanted pounds, and much of his lost his dexterity and coordination is revived. I will be presenting his remarkable story at the Fascia Congress in Vancouver in March. It seems that others with CMT are ready to make their stories known, and hopefully educate the world about CMT and strategies for a better life with it.
I was diagnosed with CMT when I was 13 years old. I am now 55 . Although my case is not so severe,through the years it has progressed now that I have trouble even buttoning my shirt.I used to work in a job where I stood on my feet for 10-12 hours per day.Thank G-D for custome molded shoes,for whitout those, no way I could stand that long.I still need to where them but my job now doesn’t require me to stand as much. My 16 year old son also was diagnosed and as yet the severity is yet to be determined,although,scoliosis is starting. I certainly appreciate the decemination of any information about CMT,especially to the medical profession, as we all know needs some education about it. This forum is a wonderful way for those of us with CMT can communicate and get the word out about this debilitating and painful disease.
I was diagnosed as a small child. You think people don’t know what CMT is now? People really didn’t know what CMT was 40 years ago when my dad, brother, and I were all diagnosed! At least most doctor’s have heard of CMT these days. I still have a hard time (even within the last few days) getting physical therapist’s to understand that over-stressing the muscles in the distal extremities is a bad thing. I get very irritated when they (P.T.’s mostly) cop an attitude about my explanation of the progressive neuropathy and muscular atrophy.
I just want more medical professionals (I was a medical professional when I could work, BTW) to, when hearing about a patient of theirs who has CMT, educate themselves before condemning their patients explanation’s.
This is a great story and I thank Bernadette for her courage and willingness to share. CMT runs in my family as well and my sister has a more severe case (although not as severe as Bernadette’s yet). I think most people would assume it is MS or CP, no one ever knows what CMT is, yet so many people have it. I think the issue is as Bernadette’s family mentions is that most people try to keep it a secret and act normal, or don’t even get the medical diagnosis they need, unless they have a really severe case. I hope that more people watch this link and hear about Bernadette’s story so that CMT will become more well-known, leading to more research and hopefully some day a cure (as hopefully one day there will be a cure for MS and CP as well)!
I am so thankful to Bernadette for making this movie and spreading awareness of Charcot-Marie-Tooth neuromuscular disorder.
Although symptoms appeared early in my life, frequently spraining my ankles and falling, my diagnosis of Charcot-Marie-Tooth disease was not confirmed until my late forties. By the time I could barely climb up any stairs, and started my day by falling on my face.
After my neurologist ruled out a number of possibilities, I searched online for an answer. Based on my symptoms: tripping over my feet and falling, weakness in my legs, numbness in my hands and feet, I asked to be tested for CMT1A. A genetic blood test confirmed the diagnosis. It should not take 47 yrs to get a diagnosis and have to figure it out yourself. Thank You Bernadette!
hello, melinda,
you are not kidding about how long it takes to get a diagnosis. i live in tasmania, australia, where neurologists are thin on the ground. found a good one in hobart (i live on the northwest coast, about 3-4 hours of driving away from hobart) who has had me genetically tested for cmt1a. it’s been 10 weeks and i’m still waiting for a result.
i think my vocal cords are also affected, which seems to be cmt2c, but can’t be tested for that one yet. labs that test are scarce.
i’m 67 and have had symptoms for decades. my mother and her mother probably both had it as well. having my mother’s history from my sister, helped my doctor help me.
all the best to you.
cheers from australia
emilie mcnicol
Hi Emile,
It took a long time for me to get the results too. There’s only one lab in the US that I know of that does the genetic testing. Athena labs. Amazing that you have to travel 3 to 4 hours to the neurologist!
I’ve been having a bit of trouble speaking loud enough for others to hear me, especially on the phone. So, I was wondering it CMT may be affecting my vocal chords as well. Although supposedly that’s rare.
My husband and I talk about visiting Australia some day. My friend Cheryl visited last year and came back with wonderful pictures and stories.
Cheers and Happy holidays from Upstate NY!
Emile….I too have Charcot-Marie-Tooth. My feet got the high arches when I was 9 yrs. old, and never got any larger. I fell a lot & sprain my ankles & could not run well. Was diagnosed about 1980 when my son was diagnosed. It does seem to affect the vocal cords. The right side of mine does not move much. My voice sound raspy and I sometimes get speech therapy, that helps. Sometimes my voice gets weak.
What I have found to help with the none working of the feet when they get cold is a supplement called Pycnogenol. It is a French maritime pine bark extract. I’ve been taking it for years and it really helps. You can get it from Swanson.
God bless you,
Geri
I am 73 and found out I had CMT when I was 64. I had symptons for years, but Doctors though I was crazy. I have a lot of nerve pain, now use a wheelchair. My daughter and son both have it as well as numerous cousins. When asked what I have, no one has ever heard of this disease, and I believe, think I made it up. It is very discouraging. Am delighted you are bringing this disease to the public. It is time some awareness of CMT is made public. THANK YOU!
My husband, now 52, was diagnosed with CMT about 24 years ago. We have been fortunate that his progression has been slow. Years of stumbling has now progressed to actually falling. He has broken his ankle, arm, and most recently his wrist. We find many doctors in our area do not know enough about CMT. When my husband broke his wrist he was questioned by two ER nurses and doctor if he drank alcohol or took street drugs. Even after telling them he had CMT they would question him.
I’m 65 and have just received an “official” diagnosis so I understand how you feel. My neurologist reassured me I’m NOT “crazy” and I’m NOT a “hypochondriac”.