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.