Nick's Fight: Tippy Toes

Thursday, October 21, 2010

Tippy Toes

So for those of you that don't know what AFO's are... barely know, lol.

Nicholas' neurologist recommended he get AFO's to wear at night due to his tip-toe walking that started shortly before he was hospitalized this January 2010.

(Late onset tiptoe walking--defined as tiptoeing which begins 4 or more months after a heel-toe gait has been established-usually indicates a neuromuscular problem such as CharcotMarie-Tooth disease, Duchenne's muscular dystrophy, or a spinal cord anomaly, and requires evaluation by a pediatric neurologist)

Many people who did not understand his disease suggested to me that Nicholas was most likely Autistic due to the toe walk, which we know is not the case(although not uncommon in Duchenne boys) thanks to our MDA clinic who has full team approach to asses your child.

The Neurologist suggested we get in contact with CCS (California Children's Service), they would give us services he needed and prescribe the AFO's. Wells its been 4 looooonnggg months and I keep calling them every week...his case is still on some unknown persons desk in Sacramento with no response.

Sooo being the impatient mother that I am I made an appointment at Hanger in Salinas, ca. myself....

They got us in quick, the office was a Little confused on what he needed, but figured it out quick. First they wrapped his leg's in a cast, then once it dried the Orthosist cut it off. Nicholas did NOT like the "yuckies"(wet cast). One week latter Nicholas got his new AFO's with cool race cars and trucks on them. He was actually really excited. He layed down when we got home, a normal routine for him, and asked me "Mommy can I have may car brace's"? He lets me put them on with no problems...so far.

It has been 3 days of use, and Tippy toes are not so tippy anymore. Yesterday was the FIRST day in months that he hasnt complained his legs hurt! He hasn't cried as much either! yeah!

The best part is...my insurance paid 100%!!!! wooo hoo!

so what exactly are AFO's? Hope this helps;)

Ankle-foot orthoses (AFOs) are orthoses or braces, usually plastic, encompassing the ankle joint and all or part of the foot. AFOs are externally applied, and are intended to control position and motion of the ankle, compensate for weakness, or correct deformities.^[4] They control the ankle directly, and can be designed to control the knee joint indirectly as well

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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%).