About Us

You’ve reached my Blog. Somehow you have been touched by Myotonic Dystrophy. Maybe you are a new parent with a child with the disease. Maybe you’ve just been diagnosed. Maybe you are a medical professional with this disease.

This website started in 1996 as a flat page to summarize all the information on Myotonic Dystrophy. Its gone through a lot of iterations over the years. Here you can find information that is not readily available elsewhere. Basically,  I try and post everything I can on the subject. Over the years web sites have come and gone so I try and capture as much as possible.

Like most sites, warning that you need to check with your doctor about the information on this site. For up to the date medical information check out the Myotonic Dystrophy Foundation site. They have the most recent and most accurate information. Its been vetted by their Medical Advisory Board. Also on this site is a Community where you can post and ask questions of others with the disease.

See below Chris and Myself at Diseny-World in August of 2011. Chris loves Mickey Mouse and we live near Disneyland in Anaheim and also visit Disney-World a couple of times per year. Chris loves it. He walks but needs Wheelchair for all day activities at the Parks.

My son Christopher Weston has the congenital form of the disease. His Mom has the early adult onset form. It’s a beast of a disease affecting almost every organ and slowly gets worse over time once the adult symptoms start.

Check out the different categories and use the search function. You’ll find a lot of information that you need here.

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31 thoughts on “About Us

  1. My nephew was born with CMD1 which was passed through his mom. She did not know she had the disorder until she was diagnosed after his birth. We don’t know of anyone in our families who has had symptoms of CMD. Will the injectable drug be injected during pregnancy to correct the genetic composition or is the drug going to be injected into the person with CMD? We are praying for a cure.

    • At the recent MDF conference in San Fransisco they hosted a session on Pre-implant fertilization and pregnancy. I did not attend the session but all the information will be on the MDF website at http://www.myotonic.com Its always a great shock for everyone as it was for me when my son was born with CMD. It took us 7 years to get a diagnosis though.
      The good news is that there are drugs on the horizon and very promising ones! We have to wait and see how human trials go first which are a few years off still.

  2. I am a consulting paediatric ophthalmologist and strabismologist in Bangalore, India. I have a 4 year old patient with myotonic dystrophy with cataract posted for surgery shortly; kindly let me know how you people can make arrangements for collecting samples of the lens material, i use alcon infiniti system
    kindly reply to my email as early as possible

    • If you wish to donate a sample please contact Dr. Jeremy D.
      Rhodes at the address shown below. He will need to know
      the following information:
      1. The date of your cataract operation — it is important
      to allow enough time for him to arrange collection
      of the sample and postage back to his laboratory, so
      please contact him at least 4 weeks before hand if at
      all possible.
      2. The name and contact details of your Ophthalmologist/
      Surgeon.
      3. The details of your myotonic dystrophy and cataract
      if you know them.
      Dr. Jeremy D. Rhodes BSc., MSc., PhD
      School of Biological Sciences
      University of East Anglia
      Norwich NR4 7TJ
      United Kingdon
      Tel: 44(0)1603 592252
      Email: j.Rhodes@uea.ac.uk

  3. My granddaughter just was diaigosed with myotonic dystrophy. She was 1month premature. They just placed a feeding tube in her stomach. Does she have a chance to live a full life? It is possible for her not to reach her first year of life. My son is such in a fog that he won’t read anything on this illness. She will be coming out of the hospital on Moday. Please give me some information on what signs we should look for. Thank you so much

    • Hi,

      Its a great shock to find this disease in the family in such a crisis! Many of the kids with this disease lead a full life there are some handicaps that occur with a lot of the kids. Lower IQ may be present as well as Autistic tendencies. For full medical information see http://www.myotonic.com Some of the kids with this have respiratory or other aliments that are so severe that they do not survive the first year. Once they get through a crisis period they generally get better. My son was in the NICU for 83 days before he came home and on a ventilator for 30 days.

  4. I have a brother who is 55 yrs old and was diagnosed when he was in his 40′s, He seems to be getting worse and worse, He stands up and then falls and has fallen many times. I have an aide that is with him for several hours but am concern when they leave that he will fall and this has happen. I am his sister and live in NJ and this is so darn hard and difficult for me, I cannot seem to get any more help for him and don’t know where to turn. I am so sad and depressed, He has been confined to his apartment which he lives alone in for the last 2 years because he lives on the 3rd floor and cannot make the stairs. I can’t find an appropriate place for him to live. Can anyone help me with infor as to whom I can contact and get more help from?

    Cathy

    • Contact the Myotonic Dystrophy Foundation and they can help. I think your brother needs a new apartment on the ground level with no stairs and is wheelchair accessible. He may need to have a wheelchair or scooter in the house as his condition worsens. Please email me more if I can help.

  5. hi, i came across your site as i am desperately researching information in regards to PGD/IVF due to my husband and 18 mth son having MD type 1. I was wondering if you had any recent updates in regards to PGD for MD type 1 that you could guide me to or provide specific websites for me to research in general. My husband is 40 with multiple symptoms, nothing severe at this point. He was not diagnosed until 27 and i want to make sure that i am well educated and aware of most recent data as i enter this life journey with my son. Any data, additional websites, info on PGD for MD (is there a facility that specializes PDG with MD? im just looking for as much info as possible. glad i came across your site, very informative! thank you!

      • Shona,

        What a wonderful Blog. Keep up the good work and I will make sure that we have a spot where I can link all the myotonic dystrophy blogs. Everyone considering a new child and is affected by DM1 should read this.

        Richard

    • Dr. Jacinda Sampson, M.D., Ph.D., Columbia University Medical Center, New York gave a talk at the recent MDF conference in San Fransico. Her information will soon be posted on the MDF website http://www.myotonic.com (Click on post conference review) She has good up to the minute information. Try her in NY as well.

  6. My mother passed away with this 1 year ago. It was very painfull watching her like that. I have four children and i would like to know where i can go to have me and my children tested for it.

    • Hi,

      The most convenient and easy place in the USA is the MDA clinics that are sponsored in most major cities. Are you in the USA?

  7. My mother passed away as a result of this disease yesterday. She was first diagnosed in the 1970′s (She was in her late 20′s at the time). She was 64 when she passed away and lead a wonderful life. I would highly advise both the individual and family members learn at an early stage how to cope with and manage MD. I love you mom.

    • You sound like a great son and have a good thoughts on this disease. Once you realize that you have it, you have to learn how to cope. How to best manage the Beast! Any ideas on how to best do this?

  8. I’VE struggled unknown neuro muscular symptoms from early adulthood, & only to be repetitively considered as having psychiatric issues, until I gave up seeking answers, & this out of sheer frustration & humiliating med. documents,
    the symptoms of violent, sustaining muscle cramps which affected
    most of the leg muscles thru a “chain reaction” & relieved only by nearly
    scalding hot water, meanwhile, my muscles weakened, & speech & swallowing sometimes affected. FINALLY after 20 + yrs. I was sent to Wesley Neurology, where I begged the Physician to not give up in finding resolution….. the testing thru muscle conduction,& biopsy, & my son’s profound symptoms’ were that of DM 1, & 2…. phenotoin seems to help,, but this illness continues to ravage & frighten me

    • That sounds like a nightmare in finding a diagnosis! Now you know what the score is and its not a pretty sight. The best thing to do is to face it head on, fight it when you can. Give it all you have. Manage the symtoms and find out more. make sure to go to the annual MDF conference in the USA. Next one is in November 8th 2013 in Houston, TX

  9. my dad died of from this when he was only 48. He lived the life of an 80 year old man. His only sister died 4 years later. His father died when I was very small of lung cancer so they said. We never knew how my dad got this but now its starting to come togeather. I am the only child from my dad. I just turned 40 and was telling my adopted sister the strange things that were happening since I had turned 40 only 3 months ago, things I never had happen before but it has happened 8-10 times now, neck, face and right leg how the muscle seams to just completly lock up and would last for anywhere from 5 sec to 35 sec. I could not do a thing about it. She reminded me of my fathers sickness and wow the first paragraph I read nailed what I was experencing on the head to a t. Now I have not a doubt what is going on. I had a daughter 22 years ago and now scared to death for her and myself. I feel like a text book case from what I am reading. any thing you can tell me to better understand my situation would be nice. I dont have insurance and dont really want to open up the door of a pre exsiting contion if I dont have to. Not yet anway.

    • Hopefully with the new healthcare law the pre-exisiting conditions coverage will be a nightmare of medival history soon. I would recommend that you attend one of the MDF conferences that occur every year. The next one is in November in Houston TX. Your daughter should be tested if she is planning on having a family as the mom can transmit the most severe form.

  10. Hi, I came across your blog as I searched for help in understanding my daughters and other children’s issues. You cannot begin to understand the relief I got from your informative text. Quick history, my daughter was diagnosed with hypotonic cerebral palsy at 18 months ,she is now 16. She has an iq of 55 and is to others who first meet her not obvious in any way. Her fathers maternal grandmother died of myotonic history,her sister did not appear to have it but had a son with it. I believe with all I have that my children have it,to some degree.is it possible to have been misdiagnosed as cerebral palsy. They keep telling me it is unlikely that she has it if dad and his mom,grandma, don’t have it but I’m not convinced. They all display very strange symptoms. The page that shows the ADHD sort of behaviors and reciting commercials, copying adult conversations and I can go on and on describes my 10 year old son perfectly.you mentioned a new form type 2 was just recently discovered. Could it be they missed it when they tested dad a few years ago? My mother in law was never tested but my ex husband was and came back as negative. My daughter was never tested, should she be? They are very “weird” ,I use that term very lovingly,but I just cant describe it. All have learning disabilities or have had. You just know something is off. My son is beginning to be teased at school.other kids sense he is ” stupid”. ( his own telling) and exclude him. He is not smart at all! Yet he can sing entire commercials he has heard and change his voice while doing it,also plays Xbox like an expert? As a mother to four children from that marriage all displaying these problems,and my daughter being the most affected ,it has been a long 18 years trying to help my kids . Not their fault dads side of family has these issues,lol.in closing grandma also has a fraternal twin who gave barth to two sons with maple urine sugar disease and both are mentally retarded as well. I have spent years telling my kids doctors that my children have some form of inheritance of this disease,gene or no gene they are affected. Please send me any info and sorry if I’m rambling on and on,just so happy with your blog:)

    • Based on what you have written it would seem that a DNA test to rule out myotonic dystropy would be in order. I not sure what tests they had in the past but modern DNA testing would rule in or out whether this exists. I would suspect that there may be myotonic dystrophy based on the symtoms that you state. If you go to the local MDA clinic in the USA they may be able to arrange for this testing for free. ThE MDF organization has a lot of information and I would encourage you to contact them as they can send you a welcome packet and further information http://www.myotonic.com

  11. My new baby has congenital myotonic dystrophy and the doctors have said in her condition she will only get better. Does that make any sence,i have only readthat the type of md she has does not get better.Please help me understand this better. Thank you!!!

    • Typically kids with this disease get better in terms of muscle tone, respiration and cognitive function over time. They usually do better than what the doctors sometimes predict. However, later in life they will get the adult form of the disease that causes progressive deterioration. This does not occur until after puberty.

    • I got this off of a website that may help you understand the nature of your child’s condition. So I think what it means is that once the child with congenital Mytonic Dystrophy is passed a certain age-newborn to 6 months- they are out of the danger zone for serious complications. So after six months or so there will be improvements in the child’s functioning eventhough the condition is ultimately degenerative over time.

      “Newborn:

      Muscle function in patients with congenital DM1 follows a predictable pattern:

      Severe muscle weakness in newborns


      Substantial improvement in children who survive the first six months, often with delayed motor development in infancy and childhood.


      Development of symptoms that mimic adult onset DM1 in the later years.”

    • Will suggest you contact the Muscular Dystrophy Association and take the baby to the clinic so they can monitor her over the years. It will not get better. I will leave it to the experts but, it does not get better. I had docs tell me I was nervous when I had my first baby. He was not diagnosed correctly until his 20′s. He was labeled emotionally handicapped, learning disabled, etc. and it was myotonic dystrophy. hope this helps.

    • Babies with MMD1 slowly see improvement over time with walking and muscle tone. However, as they get older they then begin to decline again..I am not sure on the exact age, I think around teen years but could be wrong. Contact the myotonic dystrophy foundation..

    • A former neighbor girl died the past week at age 50. The obit mentioned she suffered from myotonic dystrophy on said:

      My former neighbor girl died the past week at age 50 and the obit mentioned she suffered most of her life from myotonic dystrophy. She was a beautiful person and babysat my daughter in the late 1970′s. I had realized that she was “different” but did not know why. She seemed unmotivated and “slow”. She did get thru out high school system in the learning disability classes and also talked with a lisp. I feel better today with an understanding of this illness. My own family system has a history of bipolar which is so very difficult to diagnose correctly and to treat. Another friend had a son with Friedrich’s ataxia which was very distressting. I have sympathy with all families who live with some burden. God bless all of us and give us strength.