Nick's Fight: Winter Journey

Tuesday, December 7, 2010

Winter Journey

We survived Disneyland!Again!

This year Nicholas enjoyed Disneyland much more than any other year, and laughed more than he has ever laughed. Our trip was a short one and started off with the Disney trick or treat (saved us money and rode all the rides;}) the next day we went to California adventure and just took our sweet time as Nicholas lead us through the park to each ride. His favorite part was watching the roller coaster blast off and he would yell "woahhh" each time like it was the first time, over and over again.

Sal and Nicholas then attended the MDA Holiday party and they looked so handsome as they walked out the door, I Just had to take pictures! Isabella and I stayed home, due to her getting the first cold of the season. We did not want to take the chance of getting anyone sick, especially any child or adult with Muscular Dystrophy, it could be very dangerous. So we stayed home and spent girl time together.

Soon after Nicholas would get sick and with much luck we took a very aggressive approach and he is feeling much better. This scared both Sal and I as we looked back to our year. It was exactly this time last year that Nicholas would get so sick and was on every type of breathing treatment and steroid and then hospitalized shortly after. I still feel as if we are on that roller coaster that started a year ago. The roller coaster seems to have jumped the track now and we never know when its going to start going out of control again. I hear many people with "normal" kids tell me that its normal and kids need to get colds. Well there kids doesn't have DMD and they don't realize how a simple cold or flue that affects a "normal" child, could be lethal to mine.

We are preparing for Nicholas' birthday party, its a swim party at the Jim Booth swim school. I thought, What a great way for him to play and still be comfortable! Isabella and Nicholas love swimming and the faculty at Jim booth is awesome! Warm, indoor and shallow! They have been taking lessons on Wednesday and Mondays and are already starting to swim!

The last but I feel is very dear to my heart is that I submitted our short story on DMD to Misty Vanderweele's new book that will be released in February 2011. This was so hard for me to express not only my emotions but tell my sons journey from beginning to current without crying or even hoping not to forget something, which I'm sure i left out a lot! I felt this was so important for my story to be herd, so that the person who doesn't know or understand, or live DMD, could get a small glimpse of what its like to think your life is going so perfect and then in a blink of an eye.....its shattered and your dreams, ideas, and vision of your child's future is destroyed by a Disease that I had never even herd of until that terrible day at the neurologist office. Its important for people to understand that it can happen to ANYONE! I have new dreams now and my dreams are to not only raise awareness, but to one day be able to say to my grandchildren, this is what your father has and he is a surviver, I dream that it will be like a broken bone that will mend with treatment. I stand by PPMD's motto ONE VOICE to END DUCHENNE!

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What Is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies. In general, only males are afflicted, though females can be carriers. Females may be afflicted if the father is afflicted and the mother is also a carrier/ affected. The disorder is caused by a mutation in the dystrophin gene, located in humans on the X chromosome (Xp21). The dystrophin gene codes for the protein dystrophin, an important structural component within muscle tissue. Dystrophin provides structural stability to the dystroglycan complex (DGC), located on the cell membrane.
Symptoms usually appear in male children before age 5 and may be visible in early infancy. Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass is observed first. Eventually this weakness spreads to the arms, neck, and other areas. Early signs may include pseudohypertrophy (enlargement of calf and deltoid muscles), low endurance, and difficulties in standing unaided or inability to ascend staircases. As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue (fibrosis). By age 10, braces may be required to aid in walking but most patients are wheelchair dependent by age 12. Later symptoms may include abnormal bone development that lead to skeletal deformities, including curvature of the spine. Due to progressive deterioration of muscle, loss of movement occurs eventually leading to paralysis. Intellectual impairment may or may not be present but if present, does not progressively worsen as the child ages. The average life expectancy for patients afflicted with DMD varies from late teens to early to mid 20s. There have been reports of a few DMD patients surviving to the age of 40, but this is extremely rare

What test are done to know if my son has DMD?

DNA test
The muscle-specific isoform of the dystrophin gene is composed of 79 exons, and DNA testing and analysis can usually identify the specific type of mutation of the exon or exons that are affected. DNA testing confirms the diagnosis in most cases.
Muscle biopsy
If DNA testing fails to find the mutation, a muscle biopsy test may be performed. A small sample of muscle tissue is extracted (usually with a scalpel instead of a needle) and a dye is applied that reveals the presence of dystrophin. Complete absence of the protein indicates the condition.
Over the past several years DNA tests have been developed that detect more of the many mutations that cause the condition, and muscle biopsy is not required as often to confirm the presence of Duchenne's.
Prenatal tests
If one or both parents are 'carriers' of a particular condition there is a risk that their unborn child will be affected by that condition. 'Prenatal tests' are carried out during pregnancy, to try to find out if the fetus (unborn child) is affected. The tests are only available for some neuromuscular disorders. Different types of prenatal tests can be carried out after about 11 weeks of pregnancy. Chorion villus sampling (CVS) can be done at 11–14 weeks, and amniocentesis after 15 weeks, while fetal blood sampling can be done at about 18 weeks. Women and/or couples need to consider carefully which test to have and to discuss this with their genetic counselor. Earlier testing would allow early termination, but it carries a slightly higher risk of miscarriage than later testing (about 2%, as opposed to 0.5%).