Intl Myotonic Bulletin Board

Hi All Newbie here

Fri, 10 Jun 2011 20:56:46 GMT

Hi Everyone,

I am new to the world of Myotonic Dystrophy as far as “Knowing about the Disease” I am not however new to the effects. I have been dealing with effects since 2003 and have doctor documentation for various problems associated with it (Heart, Lungs, Fatigue, trouble with walking and using my hands can’t do my hair cause I cannot reach and my worse battle has been with the Gastrointestinal problems that could go back as early as 2 years of age when I had 9 feet of small bowel removed due to polyps) I have HORRID stomach attacks since 2003 and unable to work since 2004 that include Severe cramps, Vomiting, Passing out, Light shock (Tremors) and finally bowels break into Diarrhea. Back in January it landed me in the hospital with bowel infection as the doctor put it “They have never seen the type of infection before” I live in a VERY small town in the mtns of North Carolina and Doctor’s here do not understand the nature of this disease so when my brother was diagnosed threw a genetic lab with this and later I tested positive as well Doctors simply have not been helpful (Mine has been very KNOW IT ALL and Uncaring threw this whole process stating “Don’t be Surprised if you DON’T have this) until I went threw the genetic testing facility in Asheville, NC they showed compassion and caring even hugged me before I left. NOW onto my Question (I know I’m long winded) My brother has the muscle disorders along with advanced heart and lung problems with life expectancy not to be more than 2 years at most he’s currently 45. We are pretty sure he will get his SSDI with no problems but what about me? Since 2004 I have been on Food stamps and Medicaid because of being unable to work a job I’d get fired because I have at least 1 bowel attack per week now not to mention the Numbness in my arms and inability to write or use my hands for long periods not to mention standing and walking my ankles and feet swell to the size of coconuts. Should I take my diagnoses to my local SSI office and file for SSI or SSDI? Or should I keep getting documentation before I file a claim? Do I need a lawyer with a confirmed diagnosis of this disease? Or should I file everything on my own?

Thanks in advance for any and all responses,

Connie C

decrese of symptom

Sat, 07 May 2011 21:58:37 GMT

Hi,
I was diagnosed Myotonic Dystrophy at 17 years old. Now I am 38 years old.I am not suffered from the disease severely but sometimes it affects my daily life.
Last week I had a tonsillitis and I used a medicine whose effective substances are paracetamoland phenylephrine hydrochloride. And incredibly symptoms of Myotonic Dystrophy decreased almost i have had none symptoms.
when I stopped using the drug i hadsymptoms again.
i am trying to find a connection with the effective substances of the drug and Myotonic Dystrophy. This is for information for you and if u have any opinion about this please contact with me.

Eating Problems - any advice appreciated!

Tue, 29 Mar 2011 01:38:09 GMT

My son has just turned 5 and is still not eating solids. He will only eat, yogurt, custard and mashed vegies and meat. He wants to try everything, but can only lick food, and if he accidentally bites anything, for example a chip, he gags and throws up.
When he was 1 he was chewing everything, but then he started having problems with his bowels. I kept taking him to the Doctor and they never picked up anything serious, until he had a hernia repaired and they found a massive blockage in his bowels and had to have surgery to remove it.
As the blockage was there for 12-18months before it was removed, he lost all ability to chew his food. We have been back at square one and I need any help full advice you can offer.

Myotonic Dystrophy I Need YOU!

Wed, 12 Jan 2011 19:43:32 GMT

Hello Folks:

Would LOVE any advise! My father, uncles, aunts have past due to this disease. I was a GOOO Getter, lived a life of a lot of physical activity. I mean, I did it all.

In the last 1.5 years, I begn to fall down, have problem remembering stuff at work (not working now), lots of pain, falling down, extreme tired bla bla bla. I do not cook or clean. I applied for SSD and was turned down. I hired a laywer because how can anyone go from hiking 3 to 5 miles to not being able to sit up, stand for more then a few minutes, stay awake, ... and not be disabled?

I was tested a few years ago and was so MAD I burned all teh paper work and told my self NO WAY! Well it got me.

I went to a nurologist who isn't helping at all. He is getting a lot of insurance money and tells me I should be at teh PEAK of my money making life.

I have lived a VERY creditable life. DO drugs, drinking, no crime. I don't understand why this dr doesn't listen. He told my husband and I that he doesn't think it's affecting me. Have you experienced this?

I have a appt with the MDA clinic soon. It's scary to not have anyone that is going thru this. I am to tired to go anywhere. Please respond.

Thank you, SAGE

Autism

Mon, 23 Aug 2010 12:52:23 GMT

Does anybody know how prevalent autism is with this disorder. By that I mean, what percentage of people with this disease are also autistic or show characteristics of autism? I think the kids I work with who have MD are also autistic. We are pretty sure, but we don't have an official diagnosis.

Keeps touching his sister...

Thu, 29 Jul 2010 03:24:45 GMT

I work with two kids who have myotonic dystrophy, a brother and sister. The girl is 18 and the boy 16. The boy is very sexually charged. He continues to rub his genitals in the presence of other people. The brother keeps on grabbing the girl's hips. He has a history of trying to kiss his sister and forcing himself onto her (once his mom found him laying on top of his sister trying to kiss her. Another time she found him under the covers trying to kiss her). He has been told repeatedly by his parents and me that such behavior is unacceptable; yet he continues to do so. He knows it's wrong because he lies and tries to hide it from everybody. The girl is pretty victimized. She refuses to discuss it. Please help me with this situation.

motability 1 big day (Sorry uk only)

Wed, 28 Jul 2010 13:09:47 GMT

For anyone in the uk who who is interested in or is considering the motability scheme or car adaptations to suit their needs,there are events called one big day starting tomorrow (yeah,sorry about the late notice..) going round the country.

You will be able to test drive cars (if you take your license),theres power wheelchairs,scooters and all that sort of stuff thats available through the scheme.You can get advice or just take advantage of the free refreshments,face painting and bouncy castle if that floats your boat although i wouldnt try doing all 3 at once.I tried it once.still cant get the stains out..

slightly worryingly,my nearest one is at brands hatch motor racing circuit but its all free.

you can get more info and a free invite from here..

http://www.motabilityevents.co.uk/

I wont be there but if you happen to be at brands hatch and you see some hot looking woman in a shiny new car hacking it round the circuit at top speed with worried car company employees trying to stop her,why not say hi to my wife!

pookie

nectar T

Thu, 22 Jul 2010 05:47:04 GMT

Has anyone heard of nectar T? Has anyone used nectar T? If anyone has used nectar T what was your experience and or results with this product.

Toilet/Deliberate Soiling/Voluntary Encopresis. Please help!

Wed, 21 Jul 2010 22:51:08 GMT

Hello. I am a caregiver for two adolescents (brother and sister) with Myotonic Dystrophy. The boy is sixteen and the girl is eighteen. They both wear pull-up diapers. However, I have been working with them to transition into underwear for five months. At one time, surgeons told their mom the girl "might need to wear pull ups for the remainder of her life." But at that time she was only about sixty-five lbs. Now she weighs about 110 lbs. She is MUCH more healthy. In fact, both children are capable of controlling their bowels. They use bowel movements to manipulate, seek revenge, etc. The boy will soil himself to annoy me and some of the students in his school. The girl will do it due to laziness, to be passive aggressive, to gain desired situations or activities, etc.
They transitioned pretty well into underwear. If they had an accident, I made them clean it up themselves. I gave them candy every time they put on underwear and/or used the toilet. A few weeks ago, they were toilet trained. Their mom had them wear underwear all day until they went to bed. NO Accidents! Not even during the night. They started going to a summer camp about two weeks ago and then it all went to heck. The mom sent them in pull ups. The girl soiled her pull up TWICE in one day of camp at least THREE DIFFERENT DAYS!! They sometimes sit in dirty pull ups for hours! I don't understand it psychologically. They understand embarrassment; because they avoid it all costs. It's obvious when they soil themselves because of the smell. So now my supervisor is putting them back in pull ups and we are going to reward them for having 5 "accidents" or less a week. I am SUPER frustrated. I worked with them very hard to succeed at this and now they are back to the beginning.

After reading this, please respond. Please let me know your successes, failures, what worked, what didn't. It would be greatly appreciated, even if it's just a one or two sentence reply. I am willing to try anything! Thanks.

RULES AND REPEATS

Tue, 20 Jul 2010 21:09:17 GMT

There is no such thing a s a carrier... you either have it or you don't.
Every body has CTG repeats on their DNA. Non affected people have CTG repeats between 5 -35. They are stable repeats. Each person has 2 sets of CTG repeats in their DNA.
Anything 36 or above is unstable.
For example you have a male with repeats 12 and 28, and a female with repeats 8 and 17. When they conceive a child each will pass on a set of repeats.
For example the Dad passes on his 12 repeat and the mother passes on her 17 repeat, the child will have repeats of 12 and 17.
For the FATHER TO PASS IT ON
A Male with MMD ~ they will have one stable repeat such as 18 and an unstable repeat such as 56. If they have a child with a female with normal repeats, eg. 12 and 25, the mother may pass on her 25 repeat with the Father's 12 repeat, their child will be unaffected.
But if the father passes on the unstable repeat of 56, it may multiply, (as did in my case... to 133) this child will be born with a repeat of eg. 133 from the father and a repeat of 25 from the mother.
Now if this child is a boy, the case will be the same. Their repeats will be 25 and 133. When they have a child, they may pass on the normal repeat or the unstable repeat, just as their father did.
However, it is not know for the fathers repeat to multiply greatly, eg, the 133 repeat, may decrease.
If the child born is a female, this is where Congenital Myotonic Dystrophy can occur.
FOR the MOTHER TO PASS IT ON
In my case I passed on my unstable repeat of 133 and my husband passed on his repeat of 12 to our son. My son was born with repeats of 12 and 1033. My repeat multiplied by 10 and my son was born with Congenital Myotonic Dystrophy, meaning it was seen at birth.
He had trouble breathing, swallowing, sucking and was very floppy.
I had no signs of this and would probably never have know I had it if it hadn't been for my son.
My first child doesn't have it.
Affected Parents
Some people only ever have a stiffness in their hands or cataracts.
There is no 2 people the same. Some have high repeats and some have low repeats.
Generally, the Adult onset will occur sometime during adulthood. But this isn't a rule.
My son has repeats of 1033, he is 4 and is still not walking , talking, feeding himself, but is making great progress with all these areas. Friends I have met (worldwide through this website) have children with 1500 repeats, who were slightly delayed in all areas, but are walking, talking, eating and toilet trained at 2 years old.

loss of use of hands/arms?

Wed, 14 Jul 2010 12:28:56 GMT

Hi everyone.Hope you are all coping as well as can be expected and if not,just remember you are not in this alone!

My wife is now stuck in a wheelchair full time.Well,not exactly stuck in it (which would be really awkward) but her legs will no longer support her at all so she cannot even stand,let alone walk.

This is harsh to have to deal with for her but,she has been brilliant at adapting to it and i am so proud of her i could burst.But that isnt my point.My question is,okay, so the legs have gone but what could happen to the arms and hands?

The real fear is that she may lose the use of her arms/hands.Is that possible? She has had the myotonia in her hands for all the years i have known her but i wondered if anyone out there had experience of sufferers losing the use of their arms/hands? In my own research I havent found any reference to this actually happening and the only references are to general muscle wasting but i thought i would check with your goodselves for the reality...

many thanks,

Pookie

cosmetic surgeryI

Sun, 30 May 2010 16:16:59 GMT

Has anyone looked into or had cosmetic surgery (a facelift etc) to improve the affects of MD to facial appearance ?

advice please

Sun, 11 Apr 2010 23:07:49 GMT

Ok,
My husbannd has just recently been diagnosed with a rare cancer and we have now been informed that he will be sterile by the time he is done with chemotherapy. I literally have two weeks to figure out my family planning. We are 32 and 33 years old and have wanted to have children in the future but now the doctors are making us figure it out now.
Here's the delema: MD runs in my family on my fathers side. I have been trying to find any information on what the likelyhood of my passing it on would be. Here is who has had it in my family that I know of:
My Grandmother (Fathers Mother) had mild MD only showed with her "grip test" and eventual resperatory issues, My Father does not have it, His sister was clear but his brother had a very severe case and it showed in him at a very young age. Back in the 70's when I was born my parents were told that I could have a 50/50 chance of having but I have shown no signs of it and when I do the "grip test" my reactions are very quick and not delayed.
I cannot find any statistics that match my family history and I do not have time to wait for a gene test to make my decision on having a kid. I also cannot afford to bank sperm for future use, so, it's either now or never.

So, I guess my question is "Is it likely that I'm a carrier and if so, what percentage rate's would my children be affected?

If anyone has any advise, I sure could use it right now.

children

Mon, 05 Apr 2010 23:15:20 GMT

my name is matthew age 34 and my wife is teresa 41 who has myotonic and user a wheelchair,we both would love to have a child but we cant because of her illness we have looked into surracy but it would cost us between 5,000 and 15,000 which we cannot afford.i am her fulltime carer,i want to be a dad but we dont know where to turn to anymore,if anyone out there knows what we can do then please help us.i want to be a dad very much and i am hurting inside because i cant.time is not on my side.so if anyone can help us out. you would make a married couple very happy thanks

i need people to talk too

Fri, 26 Mar 2010 09:04:50 GMT

hi my name is matthew and i live in hull England i have been married for 12years now and my wife has myotonic which i am her full time carer i am only 34 and my wife Teresa is 41 i am looking for friends who care for a love one just to chat too,i feel alone and don't know where to turn too,i don't like seeing my wife like this i love her very much,so i just want to talk and be friends with people who are in the same boat has me,so if you need a friends to chat too,then i am the one your looking for thanks