Saturday, April 28, 2012

Beginning with Knowledge - Part 5







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.





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.

Saturday, April 14, 2012

Beginning with Knowledge - Part 3


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:
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 



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.