Bethany is now 18 years old. She graduated from a local public high school this past spring and is currently a freshmen at a local community college. Bethany is seen at Children's every 6 months by the MDA physician and an orthopedic doctor and is seen every other year in cardiology. She saw the three doctors recently and we are happy to report that there is no progression in her Multicore Myopathy.

Bethany has an active life. She is a full time student and is a child care provider for a family, taking care of 2 toddlers a couple of evenings a week. She will begin a job as a cashier at a local mall next month and she teaches piano to 5 children.

Beth's weakness is most pronounced in her lower extremities, but this does not interfere with her daily activities. She is able to drive and has an active social life. She still has difficulty climbing stairs and has to rely on a banister (railing.) She is still unable to run, skip, hop, and jump, but now that she is an adult she no longer feels the pressure of not being able to do what other children can do in gym class.

January, 2003

Bethany will turn 16 years old this month. Recently, she was seen at Children's Hospital, Boston, for another 6 month check up. The visit went well. Beth was examined by the MDA doctor and an orthopedic doctor. Their findings were good. Beth shows no signs of the multicore myopathy progressing. She has gained a little more strength in her upper extremities, and the strength in her lower extremities remains the same. Her slight scoliosis remains stable. Beth is 5 ft, 7 1/2 inches tall and weighs 140 pounds.

Bethany's most prominent weakness remains in her lower extremities. She remains unable to run, skip, hop, and jump. She still has to rely on railings (banister) going up stairs. She has less difficulty going up stairs with short risers. When Beth walks she has difficulty placing her foot heel first then toes when walking forward. She's able to do this action, but it doesn't come
naturally for her.

Bethany is a good student. She is in her second year in a public high school with ambitions of attending college in three years.

Bethany is 12 years old and was diagnosed with minicore multicore myopathy 1 1/2 years ago. She is currently being monitored in Boston, Massachusetts, USA. We were told at that time that this is an extremely rare disease with only 50 reported cases world wide. I'm interested in communicating with others regarding diagnosis, symptoms, and prognosis. Boston physicians have shared with us what information they have on this rare disease and I would be happy to share what I know with others.

When my daughter was born she had very low muscle tone and was tested for a variety of things such as Fragile X Syndrome, Down's, C.P., etc., all of which were negative, fortunately. Bethany was also described as a "floppy baby". She sat on schedule, walked on schedule, but she's always had a problem running.

At the age of 3 Bethany began physical therapy. At this time her doctor knew there was a problem, but didn't know what the problem was. She went to physical therapy for 3 years, 2-3 times a week. As a small child, she loved going there to "play," but, as her mom, I noticed her strength wasn't improving. I opted just to have her do her own physical therapy at our home.

She started kindergarten when she was 5 and functions well in all other aspects, except physically. She hates gym class, because she can't keep up with her peers. She is unable to jump, skip, hop or run. Also, when she climbs stairs, she tends to climb up them by putting two feet on each step, similar to how a toddler would climb stairs.

She is seen as an out patient in Boston every six months, and somewhere along the way she was misdiagnosed with a connective tissue disorder. We accepted this diagnosis up until 2 years ago when a different physician was prompted to do a muscle biopsy. It was because of this biopsy they were sure of the new diagnosis of multicore, minicore myopathy.

The hospital records show that Bethany is the only person ever to be seen at the hospital with this diagnosis. Further investigating by the medical team showed that she is only one of 50 reported cases of the disease world wide. I'm not sure if this figure is still accurate though.

She is still being followed at this hospital. She is monitored for a mild scoliosis, and every two years she'll have to have a cardiac work up, EKG, echocardiogram, muscular blood work, physical therapy check ups, etc. Bethany's CPK levels are also elevated.

She is a wonderful child, but gets frustrated at times. She HATES doing her physical therapy exercises, but knows they're important. We are told that physical therapy is very important, to prevent atrophy. As far as her prognosis, we've been told that because she hasn't worsened yet, she probably won't. However we were told the disease was only discovered in 1976, so they haven't been able to follow it through a generation yet, much to my disappointment.

There has been a death involving someone with a minicore diagnosis. Apparently, after being given general anesthesia, this person suffered from malignant hyperthermia and didn't make it. Because of this, Bethany wears a medic alert bracelet, stating her disease, and that she's at risk for general anesthesia.

You asked about Bethany's exertion. She loves to swim, and as a matter of fact, she's won ribbons in swimming competitions! However, because of my work schedule, she does not swim as much as she used to, but she still enjoys it when she does go, and she doesn't complain about it tiring her. As a matter of fact, we're amazed at how many laps she can do ! She definitely puts her mom to shame in the pool!

She enjoys music. At one time she took flute lessons, keyboard lessons, and voice lessons! The keyboard has always been her favorite, and is the only instrument she has stuck with for six years. She has also won keyboard competitions. She will never be able to compete in anything physical, other than her swimming, so Mike and I, as her parents, feel good about her excelling in other areas. It makes her feel good also. Our family has a boat and we spent the weekends during the summer on it. When we take the boat to different places, we dock it and do a lot of exploring by foot. Bethany loves all the walking we do during the summer and really doesn't complain about all the walking any more than my "healthy" son, Jeff. I don't think exertion is a big problem for her right now. She has difficulties, however, climbing the stairs. Her leg muscles are definitely weaker than than her arms.

It frightens me that others with this diagnosis seem so much worse than Bethany. What kind of future should we expect, physically speaking? I wonder if there's any doctor out there who can tell us that for sure? I'd like to remain optimistic about my daughter because she was diagnosed as a child rather than an adult.

My husband and I procrastinated about Bethany having her muscle biopsy but we're glad she had it two years ago because that's how we found out she has minicore disease. The same things went through our minds - Why have it done? What's
it going to change? Anyway, if a muscle disease is not detected with s biopsy then, maybe at least a muscle disease can be ruled out! For many years, before Bethany's biopsy, we were told that she had a connective tissue disorder and not to worry about it. It wasn't until about 5 years later a new doctor found questioning abnormalities in Beth's bloodwork, which led to the
biopsy, which then led to the diagnosis of minicore multicore. Because we were first misled I was apprehensive about the minicore diagnosis, but I'm NOW convinced that this IS what she has. By the way, Bethany also has VERY flat feet and a high arched palate. She is hypotonic, and has blue sclera too.A biopsy is not something you want to see your child go through but just think of the peace of mind everyone could gain from a firm diagnosis.

An update on Bethany---She went for her 6 month check up at Boston's Children's Hospital. last week. Her muscle strength is not worsening, which we're thankful for. However, her scoliosis, which had been at 12 degrees for two years is now at 20 degrees. This afternoon she will go to physical therapy for thoracic spine exercises.

She remains the sole person to be monitored at Children's Hospital with minicore disease. They've never seen anyone else with this myopathy. She will go back to the hospital within the next couple of weeks for some bloodwork because their genetics department is trying to trace the gene that causes this. She will essentially be their guinea pig. I've told them in the past that I'd like Beth to participate in any research that is available so I'm glad they're doing this.

We feel fortunate to say that Bethany is doing well. She is 12 years old and is entering the 7th grade in September. We live in Rochester Massachusetts, USA. Since Bethany's diagnosis about 3 yrs ago, she hasn't worsened, other than the increase in her thoracic scoliosis, now at 20 degrees.
We have the support of the medical community around here, although public school presents no problems. Bethany does not require any special assistance (thank God!)
She will be part of a research study in Boston soon, trying to locate the gene which causes minicore multicore disease. We're excited about that!