Community Christmas Party Dec. 15, 2012

The local community Christmas party was pretty busy. Young Aiden made himself a colorful bracelet and went on a scavenger hunt, for tree decorations, on a local nature trail with his Mom and cousin. When the noise of the 52 plus young children and their parents got to be a little much, for him, he took refuge in the kitchen and watched the festivities from there.
He did well and only had a little melt down when a youngster was brought into the kitchen crying. He was quickly consoled by his loving Mom. So, he watched the rest of the festivities from there in the kitchen, until it was time to leave. He was very proud of his bracelet he'd made, but didn't even want to peek at Santa though the doors of the kitchen, as he handed out gifts to all the children. He ended up going home with a treat from Santa anyway.

Making a colorful bracelet with a little of Mom's help.

Showing off the finished bracelet.

Scavenger hunting for tree decorations on the local nature trail with  Mom and a cousin.

Global Giveaway Hop

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My prize, is a duo of these beautiful Seagull Pewter Christmas ornaments, specially crafted, each year, to support Muscular Dystrophy Canada.
Congratulations to Michael Dale Grim on winning these two beautifully crafted keepsake ornaments!!

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To find out more about Muscular Dystrophy or purchase one or more of  these beautiful hand crafted Seagull Pewter ornaments, please visit here at  Muscular Dystrophy Canada

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Beginning with Knowledge - Part 7

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:

Finally we had a name for the problems the two smaller boys, Christin, and her father had been experiencing. It was called Myotonic Dystrophy. We were told this was one of a  vast number of neuromuscular disorders, under the larger name Muscular Dystrophy.

It was such a scary thought, that this disorder, would be associated with our family. Before we did the research, horrible thoughts ran through our minds. Searches on the World Wide Web, turned up even more, shocking stories. 

It was at this point that help began to come to our daughter and her family. And with the direction of professionals, we were able to sort out the important facts. 

What about research?

Researchers are trying to determine how the expansion of the repeated section of DNA in genes on chromosome 19 or chromosome 3 destabilizes muscle cell function. Other scientists are studying the actual process of muscle degeneration in myotonic dystrophy and also, the effect of myotonic dystrophy on other parts of the body.

For more information on this subject, please refer to: Muscular Dystrophy Canada

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.

Beginning with Knowledge - Part 6

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:

Before Aiden was born, we had many unanswered, family health, questions. Why was Brian not meeting the 'normal' milestones of holding his head up, sitting up, standing, walking and talking?

Christin, Brian's Mom, had trouble opening jars and had stiffness in her hands. She thought she had arthritis, at the young age of 24. 

David, her father had cataracts at 39, a heart attack at 48, premature balding, difficulties swallowing some foods, gastroenteric problems and severe apnea. 

Each one of these things, of course, were investigated and treated by the proper 'specialist' in each area.  But not until Aiden was born did it all begin to come together and begin to make sense to us.

 What are the symptoms of Myotonic Dystrophy?

Cataracts may develop frequently in people with myotonic dystrophy. They develop fairly slowly, but can occur in people as young as 30 years.

Myotonic dystrophy may affect the heart muscle. A person my experience palpitations (rapid, bounding pulse) or dizzy spells, or thy may have no symptoms whatsoever.

A person who has myotonic dystrophy may have difficulty swallowing. This is due to involvement of smooth (or involuntary) muscle. Cold foods may cause some individuals to choke.

Other potential problems may include bowel problems (constipation and stomach pain) and uterine problems in females. Affected individuals may be susceptible to respiratory problems such as infections and shortness of breath.

Premature balding may occur in some males, while females my experience thinning of hair. In addition to the symptoms of the adult form, symptoms of the congenital form of myotonic dystrophy include: difficulty breathing, sucking and/or feeding, weakness in virtually all muscles and slowness and difficulty in developing language and, motor skills.

This information comes from: Muscular Dystrophy Canada 

  

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.

 

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.

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.

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.

Beginning with Knowledge - Part 2

Together We're Stronger


Our story-continued:
When our second grandson was born, he had some problems early on. For privacy purposes I'll call him 'Brian'. He spent a few extra days in PICU (Pediatric Intensive Care Unit) because he had difficulty breathing on his own and had to be monitored. This resolved itself quickly. Brian was also, what they referred to as a 'floppy' baby, meaning he didn't have the usual drawn up arms and legs of a newborn.
He had difficulty latching on for breast feedings, so had to be changed over to a bottle. He was late achieving the usual milestones of holding his head up, sitting up, walking and talking.
Even with all this, there was no official diagnosis. He had Physiotherapists, Speech Therapists and Occupational Therapist and Early Childhood Educators, working to improve his 'symptoms'.
 With no diagnosis or prognosis it was frustrating, but we were happy to have the assistance of these professionals, to help him and his family out, however they could.

To learn  more about this disorder, please go to:Muscular Dystrophy Canada

 Who can be affected by Myotonic Dystrophy?

Anyone can be affected my myotonic dystrophy. It is a genetic disorder passed on to children of either sex by one parent who has the disorder.

Myotonic dystrophy can affect people at any age. The majority of people are diagnosed by the time they reach their early twenties. With each successive generation, the symptoms of myotonic dystrophy seem to get more severe, and the age that they appear gets younger. This phenomenon is known as anticipation.

Common symptoms in the adult form include:

- Myotonia that results in a delay in the ability to relax the muscles after a prolonged contraction,

- muscle weakness of the voluntary muscles, starting gradually and progressing slowly,

- muscle stiffness,

- drooping eyelids,

- unclear pronunciation of words,

- difficulty raising the head when lying,

- difficulty holding and object firmly or lifting it,

- a shuffling gait when walking,

- difficulty climbing stairs or getting up from a seated position,

- a long, rather expressionless face.

People with myotonic dystrophy may also have symptoms affecting other parts of the body

  

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.

Beginning with Knowledge - Part 1

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.


To start I'll include a definition of Myotonic Dystrophy from the Let's Make Muscles Move site, here in Canada.


To learn  more about this disorder please go to: Muscular Dystrophy Canada



Myotonic Dystrophy, also known as Steinert's disease, is the most 
common form of muscle disease, affecting approximately one person in 
8,000 worldwide. It is a disorder characterized by progressive muscle 
weakness and wasting and by myotonia (difficulty in relaxing the muscles 
after they have been contracted). It is  a multi-system disease, typically 
involving a wide range of other tissues as well as muscle.

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.