On May 25th Jocelyn had a blood draw for genetic testing to see if she is a carrier of the DMD gene. The test results came back postive stating: Mutation detected. A deletion mutation in the DMD gene empassing exon 46 was detected.
Carriers of Duchenne muscular dystrophy (DMD) usually do not experience signs and symptoms of the disorder. Occasionally, however, females who carry a DMD gene mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. Females who carry a DMD gene mutation also have an increased risk of developing heart abnormalities including dilated cardiomyopathy.
Another complication is now Jocelyn's children have a 50/50 chance of being effected by the disease. Jocelyn is a nurturing little girl. Since I can remember she has talked about one of her main goals in life is to grow up and start a family. It breaks my heart that now she will have some hard decisions to make in order to become a mom.
We have not told her the results. We are going to wait for her to ask. I'm worried about telling her. I hate that she will think about it for several years to come. I just want her to be a kid and not have to worry about something that will effect the rest of her life.
Saturday, June 23, 2012
Heartless people
Last night I received an email stating that I had a new comment on one of my blog posts. The post came to me anonymously. The post says this:
Anonymous has left a new comment on your post "Hope":
Next time I read a blog, Hopefully it does not disappoint me just as much as this one. After all, I know it was my choice to read, but I truly thought you would have something interesting to say. All I hear is a bunch of complaining about something you could possibly fix if you weren't too busy looking for attention.
My response to this anonymous post is going to educate. It is obvious that whoever wrote the post is not informed with the condition of Duchenne Muscular Dystrophy.
ABOUT DUCHENNE
Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births.Because the Duchenne gene is found on the X-chromosome, it primarily affects boys. Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. Because dystrophin is absent, the muscle cells are easily damaged. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young men with Duchenne typically live into their late twenties. Duchenne can be passed from parent to child (which in our case it was), but approximately 35% of cases occur because of a random spontaneous mutation. In other words, it can affect anyone. Although there are medical treatments that may help slow its progression, there is currently no cure for Duchenne.
ABOUT DYSTROPHIN
- A structural protein in muscle that is encoded by the Duchenne gene, the largest in the human genome.
- Acts as a cushion, as well as a kind of glue.
- It binds to the muscle membrane and helps maintain the structure of muscle cells.
- Without dystrophin, muscles are unable to operate properly, suffer progressive damage, and eventually die.
STAGES OF DUCHENNE
Although the progression and severity of each case is different, there are four generally recognized stages of Duchenne. Consider the ages attributed to each stage as approximate.
Physical decline in Duchenne is first apparent when boys are very young. Weakness is most obvious in large muscles (such as legs), and progresses to small muscles (such as hands) over time.
- Early Stage (Diagnosis to age 7)
Duchenne is typically diagnosed between the ages of two and seven. Many times there will be delays in early developmental milestones such as sitting, walking, and/or talking. Speech delay and/or the inability to keep up with peers will often be the first signs of the disorder.
Physicial symptoms
-The boy will typically move slower or with more difficulty than other children his age.
-He may appear clumsy and fall frequently, and have difficulty climbing, jumping, or running.
-Because of his muscle weakness, he will become tired more easily, or will have low energy.
-He may ask to be carried frequently, or need the use of a stroller for longer distances.
-Some of his muscles (in particular his calves) may appear enlarged or overdeveloped. This happens because muscle cells are being replaced by scar tissue.
-This process may also result in him being less flexible and having loss of elasticity in the joints (also known as contractures).
Because the onset of physical symptoms may be hard to recognize, it can be difficult for parents to accept or believe a diagnosis of Duchenne. At times a boy may appear to be improving, even as his muscles are actually deteriorating.
- Transitional Phase (ages 6 to 9)
During this time, a boy with Duchenne will have more and more difficulty walking as his quadriceps (muscles in the front of the thighs) grow weaker. This causes him to be off-balance as he shifts his weight while walking. He may walk on the balls of his feet or toes to help him stay balanced.
Trunk weakness
In order to compensate for their weak trunks, a boy with Duchenne may stick out his belly and throw his shoulders back as he walks. When asked to stand up, he will put his bottom up in the air first and use his arms for support by “walking” his arms up his legs with his hands until he is standing (also known as the “Gower maneuver).
Muscle weakness and medication
Although not apparent, he may begin to have heart problems requiring medication (after all, the heart is also a muscle). Most boys at this age have use of their hands and arms, but they may have difficulty carrying their books and other school materials (even when using a backpack).
Fatigue
In general, fatigue is common, and they may need the use of a stroller, lightweight wheelchair, or electric scooter for longer distances. Some children may use a walker to assist them in getting around the classroom.
- Loss of Ambulation (ages 10 to 14)
The “tween” and teen years bring a continuous progression of weakness. By about 12 years of age, most boys with Duchenne need to use a power wheelchair on a regular basis. Activities involving the arms, legs, or trunk will require assistance or mechanical support. Not surprisingly, fatigue is quite common.
Scoliosis
Because they have weak back muscles and are seated much of the day, they may begin to develop symptoms of scoliosis. The scoliosis, as well as muscle cramps, may result in some physical discomfort at times.
Arm Weakness
Weakness in the arms can make activities of daily living more difficult. Most young men, however, will retain the use of their fingers through this phase, so they can generally still write or use a computer.
- Adult Stage (ages 15+)
As the disorder progresses, life-threatening heart and respiratory conditions become more prevalent. Major symptoms of heart and lung complications include shortness of breath, fluid in the lungs, and swelling in the feet and lower legs. Families may elect to have a tracheotomy tube to help with breathing.
It is important for boys with Duchenne to be evaluated with an echocardiogram early in the diagnosis, and each year thereafter. Boys with Duchenne develop a dilated cardiomyopathy (enlarged heart).
Young men with Duchenne usually pass away in their 20s or early 30s due to these types of complications.
There are a few reasons that I started my blog. My first reason was it is a way for me to journal and vent. The second is it's a way for me to keep my friends and family informed medically, and the third resaon is I have hopes that our story will reach out to someone.
In no way do I want my child to face the circumstance that he will face in his lifetime and believe me when I say if I could fix or control our situation I would do anything to take this all away.
Thank you God for giving me the opportunity to bring more awareness to this disease. My job here is done.
Anonymous has left a new comment on your post "Hope":
Next time I read a blog, Hopefully it does not disappoint me just as much as this one. After all, I know it was my choice to read, but I truly thought you would have something interesting to say. All I hear is a bunch of complaining about something you could possibly fix if you weren't too busy looking for attention.
My response to this anonymous post is going to educate. It is obvious that whoever wrote the post is not informed with the condition of Duchenne Muscular Dystrophy.
ABOUT DUCHENNE
Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births.Because the Duchenne gene is found on the X-chromosome, it primarily affects boys. Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. Because dystrophin is absent, the muscle cells are easily damaged. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young men with Duchenne typically live into their late twenties. Duchenne can be passed from parent to child (which in our case it was), but approximately 35% of cases occur because of a random spontaneous mutation. In other words, it can affect anyone. Although there are medical treatments that may help slow its progression, there is currently no cure for Duchenne.
ABOUT DYSTROPHIN
- A structural protein in muscle that is encoded by the Duchenne gene, the largest in the human genome.
- Acts as a cushion, as well as a kind of glue.
- It binds to the muscle membrane and helps maintain the structure of muscle cells.
- Without dystrophin, muscles are unable to operate properly, suffer progressive damage, and eventually die.
STAGES OF DUCHENNE
Although the progression and severity of each case is different, there are four generally recognized stages of Duchenne. Consider the ages attributed to each stage as approximate.
Physical decline in Duchenne is first apparent when boys are very young. Weakness is most obvious in large muscles (such as legs), and progresses to small muscles (such as hands) over time.
- Early Stage (Diagnosis to age 7)
Duchenne is typically diagnosed between the ages of two and seven. Many times there will be delays in early developmental milestones such as sitting, walking, and/or talking. Speech delay and/or the inability to keep up with peers will often be the first signs of the disorder.
Physicial symptoms
-The boy will typically move slower or with more difficulty than other children his age.
-He may appear clumsy and fall frequently, and have difficulty climbing, jumping, or running.
-Because of his muscle weakness, he will become tired more easily, or will have low energy.
-He may ask to be carried frequently, or need the use of a stroller for longer distances.
-Some of his muscles (in particular his calves) may appear enlarged or overdeveloped. This happens because muscle cells are being replaced by scar tissue.
-This process may also result in him being less flexible and having loss of elasticity in the joints (also known as contractures).
Because the onset of physical symptoms may be hard to recognize, it can be difficult for parents to accept or believe a diagnosis of Duchenne. At times a boy may appear to be improving, even as his muscles are actually deteriorating.
- Transitional Phase (ages 6 to 9)
During this time, a boy with Duchenne will have more and more difficulty walking as his quadriceps (muscles in the front of the thighs) grow weaker. This causes him to be off-balance as he shifts his weight while walking. He may walk on the balls of his feet or toes to help him stay balanced.
Trunk weakness
In order to compensate for their weak trunks, a boy with Duchenne may stick out his belly and throw his shoulders back as he walks. When asked to stand up, he will put his bottom up in the air first and use his arms for support by “walking” his arms up his legs with his hands until he is standing (also known as the “Gower maneuver).
Muscle weakness and medication
Although not apparent, he may begin to have heart problems requiring medication (after all, the heart is also a muscle). Most boys at this age have use of their hands and arms, but they may have difficulty carrying their books and other school materials (even when using a backpack).
Fatigue
In general, fatigue is common, and they may need the use of a stroller, lightweight wheelchair, or electric scooter for longer distances. Some children may use a walker to assist them in getting around the classroom.
- Loss of Ambulation (ages 10 to 14)
The “tween” and teen years bring a continuous progression of weakness. By about 12 years of age, most boys with Duchenne need to use a power wheelchair on a regular basis. Activities involving the arms, legs, or trunk will require assistance or mechanical support. Not surprisingly, fatigue is quite common.
Scoliosis
Because they have weak back muscles and are seated much of the day, they may begin to develop symptoms of scoliosis. The scoliosis, as well as muscle cramps, may result in some physical discomfort at times.
Arm Weakness
Weakness in the arms can make activities of daily living more difficult. Most young men, however, will retain the use of their fingers through this phase, so they can generally still write or use a computer.
- Adult Stage (ages 15+)
As the disorder progresses, life-threatening heart and respiratory conditions become more prevalent. Major symptoms of heart and lung complications include shortness of breath, fluid in the lungs, and swelling in the feet and lower legs. Families may elect to have a tracheotomy tube to help with breathing.
It is important for boys with Duchenne to be evaluated with an echocardiogram early in the diagnosis, and each year thereafter. Boys with Duchenne develop a dilated cardiomyopathy (enlarged heart).
Young men with Duchenne usually pass away in their 20s or early 30s due to these types of complications.
There are a few reasons that I started my blog. My first reason was it is a way for me to journal and vent. The second is it's a way for me to keep my friends and family informed medically, and the third resaon is I have hopes that our story will reach out to someone.
In no way do I want my child to face the circumstance that he will face in his lifetime and believe me when I say if I could fix or control our situation I would do anything to take this all away.
Thank you God for giving me the opportunity to bring more awareness to this disease. My job here is done.
Tuesday, June 12, 2012
Kindergarten graduation
Logan graduated kindergarten last week on June 5th. When Jocelyn graduated kindergarten it was an emotional proud Momma day. With Jocelyn I was able to keep myself under check and hold the tears back but watching my baby boy fulfill this milestone the proud Momma tears were flowing. I'm so proud of him. He is such a smart little boy. I'm so happy to be able to watch him grow and accomplish milestones in his life.
For Logan's graduation present he got a red maple tree him and his Daddy planted. He is excited about watching it grow. Logan has talked about how big he wants it to get. I'm excited to watch his tree grow with him. The tree will always be in memory of him.
For Logan's graduation present he got a red maple tree him and his Daddy planted. He is excited about watching it grow. Logan has talked about how big he wants it to get. I'm excited to watch his tree grow with him. The tree will always be in memory of him.
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Logan turned 6
It is amazing how fast time goes. I remember when I was a child and my mother would tell me to enjoy being a child and not to grow up to fast because time goes fast on it's own. I would look at her with child confused eyes and think, "It sure isn't going fast for me." She is right it seems just like yesterday my baby boy was born. I think back to Logan's baby years. He was and still is such a handsome little guy. I loved watching him smile and looking at his sweet dimples. I grin thinking about him. He was a grumpy little guy. My friend and I laugh because Logan came out with a grimace. Logan has always been an eater so he grew to be such a chunky little guy. I love him with all my heart. I am very grateful for the gift that god has given me. I'm so proud of you Logan. You are my teacher. Your strength is an inspiration and I love you!
Logan at 11 weeks
Logan at 12 months
Today at 6 years old
Wednesday, May 30, 2012
Cardiologist Email Response
Angela,
Thank you for your email. Regarding your questions, we do not see any evidence that he has early onset DCM. He does not have any irregular rhythms of the right side of the heart. His EKG shows what is called possible right ventricular hypertrophy but this in not seen on his ECHO. In other words, there are no concerns. His Holter was normal. However, given the concerns of the fast heart rate at the last visit and his increasing age, we felt that a cardiac MRI was the right thing to do. The ECHO test has limitations that we can overcome with MRI to give you the best information possible about him.
I understand some of your confusion from the visit. We will make sure to give you more concise and clear information in the future.
Hope
this helps
Best regards,
John Lynn Jefferies, M.D., M.P.H.
Wednesday, May 23, 2012
Clarity
I spoke to Logan's pediatrician this morning asking for clarity of his recent echo cardiogram done on May 10th. She informed me that the report did read normal and it does not state that Logan is in the beginning stages of Dilated Cardiomyopathy. The concern was that his heart was not measuring normal and with the cardiac symptoms that he is having his cardiologist felt the need to investigate his heart further with a cardiac MRI in 6 months. I have not heard back from his cardiologist yet so I am assuming that if his holter test comes back with some abnormalities then Logan will have an MRI done sooner than 6 months.
I'm glad to have the clarity and it does seem at this point there is no need to be alarmed. I'm hoping that if there is something going on the holter test (the 24 hour monitoring device) will show something and we will proceed with the MRI. This will enable Logan to get the appropriate treatment he needs and hopefully prolong the effect of cardiomyopathy.
For Logan to have a cardiac MRI he would need to go under a general anesthetic. There is concern when anyone goes under anesthetic but for DMD boys there is a greater risk. There are only curtain types of medications he is allowed to receive or a number of serious problems could arise. Logan is only able to receive general anesthesia intravenously (through an IV) and not inhaled. Inhaled anesthetic agents have been linked with dangerous reactions in boys with Duchenne. So even having the MRI purposes a concern.
There truly is a lot I need to know with Logan's condition and I hope that I can just remember them all. Please keep Logan in your prayers as we continue through this journey.
I'm glad to have the clarity and it does seem at this point there is no need to be alarmed. I'm hoping that if there is something going on the holter test (the 24 hour monitoring device) will show something and we will proceed with the MRI. This will enable Logan to get the appropriate treatment he needs and hopefully prolong the effect of cardiomyopathy.
For Logan to have a cardiac MRI he would need to go under a general anesthetic. There is concern when anyone goes under anesthetic but for DMD boys there is a greater risk. There are only curtain types of medications he is allowed to receive or a number of serious problems could arise. Logan is only able to receive general anesthesia intravenously (through an IV) and not inhaled. Inhaled anesthetic agents have been linked with dangerous reactions in boys with Duchenne. So even having the MRI purposes a concern.
There truly is a lot I need to know with Logan's condition and I hope that I can just remember them all. Please keep Logan in your prayers as we continue through this journey.
Tuesday, May 22, 2012
Hope
My mom and I took a trip up north to Perrysburg, Ohio for a parent outreach session with CureDuchenne on April 26th. This is were I get my strength. Its companies like Cure Duchenne and Parent Project Muscular Dystrophy (PPMD) who have dedicated their life to finding a treatment that will better the quality of life for our boys. Both CureDuchenne and PPMD were started by mothers who's son or son's were effected by Duchenne MD.
The meeting was very informative on the research that is certainly taking place. I was happy that I was able to make it to the event. It gave me hope, I was able to meet parents that are going through the same journey, and to meet a 40 year old Duchenne man. His name was Tom and he is a very inspiring man. He gave us two words of advice, "Have god in your life and to eat your vegetables."
The information I received that is near to my heart and gives me hope for Logan is in the exon skipping. I have attached a link if your interested in reading:
http://www.muscular-dystrophy.org/about_muscular_dystrophy/research_faqs/612_what_is_exon_skipping_and_how_does_it_work
They are currently working on skipping exon 51. Logan is missing exon 46 which would mean that they would need to skip exon 45. Exon 45 is in line for clinical trial once the drug has been approved for exon 51. This woud be a treatment and not a cure. It would turn his Duchenne MD into a Beckers MD. Beckers MD produces some level of dystrophin as where Duchenne produces none. So turning Logan's condition into a Beckers would give his body the ability to produce some dystrophin and give him a better quality of life.
All we have is hope, These clinical trials give me hope that Logan will be have a good quality of life.
The meeting was very informative on the research that is certainly taking place. I was happy that I was able to make it to the event. It gave me hope, I was able to meet parents that are going through the same journey, and to meet a 40 year old Duchenne man. His name was Tom and he is a very inspiring man. He gave us two words of advice, "Have god in your life and to eat your vegetables."
The information I received that is near to my heart and gives me hope for Logan is in the exon skipping. I have attached a link if your interested in reading:
http://www.muscular-dystrophy.org/about_muscular_dystrophy/research_faqs/612_what_is_exon_skipping_and_how_does_it_work
They are currently working on skipping exon 51. Logan is missing exon 46 which would mean that they would need to skip exon 45. Exon 45 is in line for clinical trial once the drug has been approved for exon 51. This woud be a treatment and not a cure. It would turn his Duchenne MD into a Beckers MD. Beckers MD produces some level of dystrophin as where Duchenne produces none. So turning Logan's condition into a Beckers would give his body the ability to produce some dystrophin and give him a better quality of life.
All we have is hope, These clinical trials give me hope that Logan will be have a good quality of life.
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