What form of CNM/MTM do you have?
I am an x-linked manifesting carrier.
When did you first get diagnosed?
I was first diagnosed as a carrier when my son Calder and I participated in a genetic study with Gail Herman in the late 1990s. Calder was born in 1995 with traditional symptoms and diagnosed at age 4 weeks from muscle biopsy. He, sadly, died at age 4 from complications of XLMTM.
I was a late-in-life mom, age 44 at the time of Calder’s birth so it was not long before I began to connect 2+2 and seriously wonder if I might be manifesting increasing symptoms I had seen throughout my life. I, finally, saw a neurologist in 2009 who confirmed I was ‘not normal’ and was experiencing, what he called, a ‘slow moving glacier’. I have learned since from research studies that most often women who are manifesting carriers are not completely symptomatic until their fourth or fifth decade.
What symptoms prompted your diagnosis?
I have always been what I would describe as accident prone and a weakling. For example, I am left-handed and I used to challenge right-handed girlfriends to arm wrestle me just for fun with their left hands. I have never met anyone who could not beat me fairly easily. I also spent a year working with a personal trainer in my early 50s. She described me as low-normal at the end of the year. This is after many years of consistent aerobic exercise and fitness training efforts to control my uncontrollable weight problem!
I am definitely NOT low-normal now. In 2009, I was having difficulty breathing when walking and my strength to move around the office and outdoors was diminished. Stairs were increasingly difficult but did not require more than one handrail for up to 3-4 steps. I had to be very focused when walking to keep balance and not step on something that would throw that balance off.
What symptoms prompted your diagnosis?
I met with the neurologist two times.
How were you diagnosed?
He did both a strength exam and an electric needle exam. Since we already had my DNA results, he knew I was a carrier so it was not difficult to confirm I was showing weakness.
What impact did the diagnosis have on you?
It is startling to hear you are not normal and are experiencing a ‘slow moving glacier’. You know it is true but like any other shock of this nature, you initially want to deny its truth. Then you want know just where this ‘glacier’ is moving and where it will take you. This is very hard to ascertain as there is not a lot of research and not a lot of women I have found in similar condition. Currently I am communicating with two others, one in a little better condition, one in a little worse.
Have you explained CNM/MTM to family members and what was their reaction?
I was engaged to my husband Max when I received my diagnoses. He has been nothing but great and very supportive. I am very fortunate to have found such a kind and loving man. I did try to explain to my mother in 2009 but she was very uncomfortable with the idea when I first mentioned it. So I have not discussed it again with until this summer. I decided to talk more freely with both my parents. They don’t like the idea of it, but they are glad to know now and of course, are very concerned. In the 90s when we knew I was a carrier, we certainly looked for other family history, but thankfully there doesn’t seem to be any and there are healthy boys born to every other generation, cousins and to my sister.
What implications do you think it has it had on your family?
None other than what I have mentioned.
Do you have advice for people who are looking for a diagnosis?
Be persistent. Be your own advocate with healthcare professionals.
What are your current symptoms?
I cannot climb stairs without using BOTH hands on a handrail. This symptom worsened in my early 50s to the point now it is REALLY difficult to climb even 2 or 3 steps and street curbs. I cannot stand for longer than a few minutes without discomfort. I cannot walk on uneven ground without danger of falling and I cannot walk easily without pain or unsteady gate. I tire very easily even when typing or doing simple things like laundry. I have breathing problems and wear c-pap at night since last year.
The sleep study revealed my oxygen saturation was dipping into the 70s without it! I have been diagnosed with heart stiffening. I also have a raised hemi-diaphragm (found in other manifesting carriers as well). My left arm is probably ‘low normal’ but my right is not. I cannot raise my hand above my head and even when lying down to exercise range-of-motion, it is now hard to lift the weight of the arm itself.
What treatment are you having, and have you had?
Beside wearing c-pap at night, I heard recently from US women that some are taking L-Leucine and L-Carnitine for energy and muscle health. I have not started taking them, but I am planning to try them. I was given doctor recommendation to see a physical therapist to help with range of motion issues.
How did you find a doctor?
I have a lot of challenge finding a doctor who grasps this disease; I have not been really successful yet. The doctor that diagnosed me is a neurologist specializing in muscle disease issues. I have learned that another neurologist in Kansas City (only three hours by car from where I am) has at least two patients who are x-linked manifesting carriers. I know that because he is thanked by the authors at the end of a research article. My primary care doctor is trying to get me an appointment with him now. And frankly, I am not sure my primary care doctor is the right one for me.
Has your diagnosis had any health insurance implications for you?
I have moved several times recently from on city to another so I have seen a wide variety of doctors. I am not sure how I would rate their understanding or ability to help. It is hard to understand this disease since it rare and it seems hard for them to advise me.
What advice would you give to someone who has just been diagnosed with CNM/MTM?
I live in the US and we are covered under my husband’s health insurance. He is a retired Boeing engineer and it is a large company and there have been no problems.
What advice would you give to someone who has just been diagnosed with CNM/MTM
Have hope, don’t give up and seize the day!
What’s your favourite book/film/music?
My favorite books have been by Martha Beck. Beck is a Harvard Ph.D. in Sociology, but writes from her own clinical perspective about living life to it fullest. I HIGHLY recommend her ‘Finding Your Own North Star’ and follow-up ‘Steering By Starlight’. They are great books to read, process and re-read.
I have been a performance facility coordinator and executive director of several performing arts groups. I love lots of music, but I would have to say my favorites are Americana/Vernacular/Mountain music fused with Jazz, Classical or Bluegrass. There are some amazing trained artists who are doing incredible work in this field, most that I have had the honor to work with. They include: Edgar Meyer, Mike Marshall and Caterina Litchtenberg, Darol Anger, Joshua Bell, Bela Fleck, Howard Levy, Eugene Friesen, Glen Velez, and Philip Aaberg.
I love independent films that are not necessarily blockbusters. But I do enjoy a sweet romantic comedy.
What did you want to be when you were younger?
I am an artist; I paint colorful people in a colorful manner. I have always wanted to be an artist. I also teach college classes in art appreciation, but it is getting harder to do this and I have cut back some.
What is a favourite/memorable event from your childhood?
In my family, we are noted for enjoying the tall tales of our memories. I have a few pleasant memories of Christmas dinners at my grandmother’s house with cousins, aunts and uncles and my sister and I loved to sing and used to sing and dance on the fireplace mantle entertaining ourselves for hours (I am sure that was enjoyable to our mother who had to endure it).
The sharpest memories are of a different kind–like the vacation time my father went on to climb the mountain and got lost after my mother returned to the cabin with my sister and me. Fortunately, he made it down on his own near sunset. Or another time when going to art lessons, the car my mother was driving lost braking power–very scary!
Who do you think has most influenced you in your life?
I have been blessed with incredible parents, the kind all your friends envy and want to hang out with. I have been even more blessed that they are both still living to influence and inspire me weekly. My father has inspired my adventurous, outspoken leadership style. My mother has inspired my considerate and quiet approach to others. Both have always encouraged and supported my creativity. They are very creative as well, but did not have careers in the arts.
What’s the best advice you’ve been given?
I have liked this quote for years. I see it as all the more relevant now:
Though much is taken, much abides; and though
We are not now that strength which in old days
Moved earth and heaven, that which we are, we are:
One equal temper of heroic hearts,
Made weak by time and fate, but strong in will
To strive, to seek, to find, and not to yield.
Update November 2019
Since 2013 I’ve worked very hard and have managed to lose nearly 100 pounds, nearly 60 of it this year. Naturally I am able to move about more and stand for longer. I’ve actually spent an hour plus on my feet. I do have to recover afterwards by resting but I’m really pleased that I’m able to move more easily.