Together We're Stronger
Our family
has been affected by Myotonic Dystrophy, for many years. I've been wanting to
blog about it for some time now, but didn't know how to begin.
There is
way too much information to cover in one post. So, to make it easier for
me...and easier for everyone reading to understand, I have decided to break
it up into a series of weekly posts.
As we
travel this journey of learning together, I would like to think of this blog
as a place where, if any others are affected, they too can offer comments and
voice their concerns and suggestions on families dealing with this condition.
All comments and thoughts are my own. Resource
information will be linked to it's source.
Our
story-continued:
After receiving a diagnosis of not one, but four, family members who had this condition, we knew we'd have a long journey ahead of us. The geneticist suggested DNA testing of my husband's siblings, as well as the children of his father's siblings. So far only one brother has been known to be affected and not to the extent of any in our family. For that we're thankful! DNA testing along with a family history and physical examination was all that was needed to make a diagnosis in our case. But without Aiden's birth in 2004, none of this would have come about. It was because of him that this condition was diagnosed in our family and our journey began.
How is myotonic dystrophy diagnosed?
A physician makes a diagnosis based on family
history and a physical examination. Tests that will assist the physician in
making his diagnosis include DNA analysis, an electromyelogram (to measure
electrical activity in the muscle), a muscle biobsy (to study muscle cells for
signs of the disease) and in the case of possible cataracts, and eye
examination.
Is there any cure or treatment for myotonic
dystrophy?
There is no cure for myotonic dystrophy at the
present time. Treatment is symptomatic. That is, problems associated with
myotonic dystrophy are treated individually. For example, surgery is available
for the correction of cataracts. Medication may be prescribed to counter the
effects of myotonia. A heart specialist, depending on what symptoms are experienced,
will treat heart problems. Speech therapy and a modified school environment can
assist children with developmental delays. Remaining as active as possible is
recommended for everyone with myotonic dystrophy.
For more information on this condition, please go to: Myotonic Dystrophy
Disclaimer
The material provided on
this site is designed for information and educational purposes only. The
materials are not intended to be a self diagnostic and/or self treatment
tool. I encourage you to use this information as a tool for discussing your
condition with your health practitioner.
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This is the story of our family's journey from the first diagnosis of Myotonic Dystrophy, onward. As with any journey there are the ups and downs and so it was and will be with us, too. My plan is to keep a positive spin on dealing with this life long journey. I'd love to have you join us on our journey. Maybe you can learn a little from us. We can certainly learn from others.
Saturday, April 28, 2012
Beginning with Knowledge - Part 5
Sunday, April 22, 2012
Beginning with Knowledge - Part 4
Together We're Stronger
Our family has been affected by Myotonic Dystrophy, for many years. I've been wanting to blog about it for some time now, but didn't know how to begin.
There is way too much information to cover in one post. So, to make it easier for me...and easier for everyone reading to understand, I have decided to break it up into a series of weekly posts.
As we travel this journey of learning together, I would like to think of this blog as a place where, if any others are affected, they too can offer comments and voice their concerns and suggestions on families dealing with this condition.
All comments and thoughts are my own. Resource information will be linked to it's source.
Our story-continued:
A genetic specialists was called from Nova Scotia's Isaac Walton Killam (IWK), Hospital, to come up and access the new baby, Aiden. After studying his birth records, talking with the nurses, examining Aiden himself, he determined that genetic testing should be done on Aiden, his brother Brian, their Mother Christin and on her father David. Aiden and Brian were found to have Congenital Myotonic Muscular Dystrophy and Christin and her father, David, had adult onset of this condition. Even though this was a tough diagnosis for the family, it explained a lot of individual health problems that had occurred over the years and linked a lot of them back to this Myotonic Dystrophy. To learn more about this disorder, please go to: Muscular Dystrophy Canada
What causes myotonic dystrophy?
Myotonic dystrophy is caused by an error in genes
located on chromosome 19 or chromosome 3. The basic default in DM1 is an
inherited mutation in the myotonic dystrophy protein kinase gene. At the
present time, it is not known how the genetic abnormality causes the disorder.
How is myotonic dystrophy inherited?
Myotonic dystrophy is transmitted vie autosomal dominant
pattern of inheritance. Autosomal refers to the fact that the faculty gene
appears on one of the 22 chromosomes no associated with determining the sex of
the child (in this case, chromosome 19). Dominant refers to the fact that th
disorder is passed down by one parent of either sex who also has the disorder.
There is no carrier status. Each child born to an affected parent has a 50%
chance of inheriting the disorder.
Disclaimer
The material provided on this site is designed for information and educational purposes only. The materials are not intended to be a self diagnostic and/or self treatment tool. I encourage you to use this information as a tool for discussing your condition with your health practitioner.
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Saturday, April 14, 2012
Beginning with Knowledge - Part 3
When our daughter, we'll call her Christin, was pregnant with her second child, she had several complications requiring complete bed rest for the final few months of her pregnancy. She seemed extraordinarily large, despite the small size of the baby she was carrying. Even though she was off her feet as much as she could, having another child at home, she still seemed to be carrying an excess of amniotic fluid. She was told to drink less, which she did.
Then unexpectedly her water broke at home and she went into premature labour. Her son was born after hours of labour, by Cesarean section. He was 8 weeks early, weighing only 4 lbs 3 oz, and kept on standby assisted breathing and given Nasogastric Tube tube feeding in the Pediatriac Intensive Care Unit of our local hospital. He was too weak at birth to take a bottle. My daughter pumped breast milk to give her son the best chance he had to fight infections with this precious milk, and for Christin to contribute to his well being.
It was through the diligence of the medical team, having remembered Brian's symptoms at delivery, and now seeing similarities in his newborn brother, that alerted them to the fact that this may be a genetic disorder.
To learn more about this disorder, please go to Muscular Dystrophy Canada
Then unexpectedly her water broke at home and she went into premature labour. Her son was born after hours of labour, by Cesarean section. He was 8 weeks early, weighing only 4 lbs 3 oz, and kept on standby assisted breathing and given Nasogastric Tube tube feeding in the Pediatriac Intensive Care Unit of our local hospital. He was too weak at birth to take a bottle. My daughter pumped breast milk to give her son the best chance he had to fight infections with this precious milk, and for Christin to contribute to his well being.
It was through the diligence of the medical team, having remembered Brian's symptoms at delivery, and now seeing similarities in his newborn brother, that alerted them to the fact that this may be a genetic disorder.
To learn more about this disorder, please go to Muscular Dystrophy Canada
What are the different forms of myotonic dystrophy?
The adult form of myotonic dystrophy generally
appears between the ages of 10 and 30 years. The severity of symptoms, the rate
of progression and the degree if disability vary widely from one person to the
next, even among members of the same family. In most cases, the disorder progresses
slowly.
Congenital myotonic dystrophy, the most severe
form of myotonic dystrophy, is always present at birth. Affected babies are
born to mothers who also have myotonic dystrophy. When the father has myotonic
dystrophy, his children are not at risk for the more serious congenital form.
Babies with congenital myotonic dystrophy are very weak and floppy and
frequently have problems with sucking, feeding and breathing. If they survive
the newborn stage, they generally overcome their breathing and feeding problems, but they are slow to develop
language and motor skills and are often affected for life with difficulties in
these areas.
Disclaimer
The material provided on this site is designed for information and educational purposes only. The materials are not intended to be a self diagnostic and/or self treatment tool. I encourage you to use this information as a tool for discussing your condition with your health practitioner.
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