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Thursday, December 22, 2016

A Little Information...

Achondroplasia is the most common form of skeletal dysplasia, and the kind of dwarfism I have.


Some common Characteristics include:

-Large noggin and prominent forehead (I had a hard time keeping it upright in my early years ;)
-Sunken nose bridge (“ski jump” nose, I’ve always been self-conscious of this)
-Ear infections, sinus obstruction, apnea (Pretty much everyone in my family can attest to my thunderous snoring, and as a result of being the youngest on both my mom and my dad’s extended family, I am the victim of much love and teasing.  I had to have tubes in my ear every year since I was born until about age 12, and as a result of the medicine, I hate anything grape.)

-Crowded and misaligned teeth (thank goodness for braces)
-Lordosis (Curved lower spine / S-shaped body that contributes to my awesome booty.)
-bowed legs (I’ve also been very self conscious of this)
-flat, short, broad feet (aka wide width, makes it very difficult to find shoes that fit)
-double jointedness and flexibility (I can scratch my nose with my foot and do the splits)
-low muscle tone common (hypotonia) and obesity (gotta be real careful about food proportions)
-average size trunk (I may be taller than you sitting up than I am standing ;)
-short arms and legs, particularly short upper arms and thighs (Also self conscious of the skin that bunches up and creates what I like to call a “double elbow roll”)
-trident hands and short fingers (live long and prosper)
-limited range of elbow motion (I can’t bend my elbow straight.  Drives me crazy.)
-generally normal intelligence and average lifespan (Hey, I made it to college didn’t I?)
-babied and protected sexual development often delayed or impaired into adulthood (Took me a little longer than most to believe that boys did not have cooties…)


Diagnosis:

There are 2 major categories of dwarfism, disproportionate and proportionate. Disproportionate dwarfism is when one or more body parts relatively large or small in comparison to those of an average sized adult.  Growth variations in specific areas apparent such as average size torso and shorter arms and legs OR shortened trunk with longer limbs.  In proportionate dwarfism, the body is normally proportioned on an unusually small scale.
Short stature in the absence of a medical condition is not generally considered dwarfism.
It’s classified based on the underlying condition that causes the short stature (skeletal dysplasia, hormone deficiency, etc). It is usually caused by a genetic variant, such as a gene mutation in the case of Achondroplasia

Statistics and Random Facts:

The average height of adults with achondroplasia is 131 centimeters (4 feet, 4 inches) for males and 124 centimeters (4 feet, 1 inch) for females.

The most recognizable and common form of dwarfism is achondroplasia, which accounts for 70% of dwarfism cases, occurs in 4 to 15 out of 100,000 live births

The risk of death in infancy is increased due to the likelihood of compression of the spinal cord with or without upper airway obstruction.

Dwarfism is sometimes defined as an adult height of less than 4 feet 10 inches.

Over 200 diagnosed types of dwarfism, and some who never receive a definitive diagnosis and/or have a condition that is unique to themselves or their family.

Achondroplasia is an autosomal dominant disorder caused by the mutation of a faulty allele on chromosome 4. If a pair of achondroplasia alleles are present, the result is fatal. 

If both parents of a child have achondroplasia, and both parents pass on the mutant gene, then it is very unlikely that the homozygous child will live past a few months of its life.  This is a scary thought to me.  

With two people that have the same condition of dwarfism, there’s a 25% chance of having an average size child, 50% chance the child will have achondroplasia, and 25% chance that the baby would be too small, and only live for a few weeks.  

With one person who has achondroplasia and one person who doesn’t have it, the chances are 50/50 whether or not the kids will.  Your kids could have dwarfism, too.  

People with achondroplasia can be born to parents that do not have the condition due to spontaneous mutation.  My parents, after all, do not have it.  

Treatment:

There is no single treatment for dwarfism.

Individual differences, such as bone growth disorders, sometimes can be treated through surgery. The most effective means of increasing adult height by several inches is distraction osteogenesis (surgical limb lengthening) though availability is limited and the cost is high in terms of money, discomfort, and disruption of life. Most people with dwarfism do not choose this option, and it remains controversial.  I’ll write more about it later.

For many types of dwarfism, surgical treatment is not possible.

Some hormone disorders can be treated through medication and by hormone replacement therapy; this treatment must be done before the child's growth plates fuse.

Gene based therapy may possibly serve as a future treatment option. BioMarin Pharmaceutical Inc. announced in 2012 the initiation of a Phase 1 study in healthy volunteers for vosoritide (BMN-111), an analog of C-type Natriuretic Peptide (CNP), for the treatment of achondroplasia. In June of 2015, BioMarin announced positive results of their Phase 2 study, stating that 10 children experienced a mean increase of 50% in their annualized growth velocity.  Would I have this tested on my kids?  That’s a good question. 
Accommodations such as specialized furniture are often used by people with dwarfism.  Many support groups provide services to aid individuals with dwarfism and the discrimination they may face because of their dwarfism.

Society:

Heightism is a real thing. For a person with dwarfism, height discrimination can lead to ridicule in childhood and discrimination in adulthood.  Numerous studies have demonstrated reduced employment opportunities. Severe shortness is associated with lower income. Social prejudice against extreme shortness may reduce social and marital opportunities.
Children with dwarfism are particularly vulnerable to teasing and ridicule from classmates. Because dwarfism is relatively uncommon, children may feel isolated from their peers.

Etymology:

Historically, the term "midget" was used to describe "proportionate dwarfs"; however, this term is now regarded as offensive and pejorative by some (see my first blog post).
The noun dwarf stems from Old English dweorg, originally referring to a being from Germanic mythology—a dwarf—that dwells in mountains and in the earth, and is associated with wisdom, smithing, mining, and crafting. The etymology of the word dwarf is contested, and scholars have proposed varying theories about the origins of the being, including that dwarfs may have originated as nature spirits or as beings associated with death, or as a mixture of concepts.
The terms "dwarf", "little person", "LP", and "person of short stature" are now generally considered acceptable by most people affected by these conditions.
The word achondroplasia literally means "without cartilage formation."  The problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs.

Animals:

Dwarfism occurs in animals as well; this is the case for the dachshund, basset hound, corgi and bulldog breeds as well as the munchkin cat.  I want a corgi and a munchkin cat SO BAD.

The now-extinct Ancon sheep was created by humans through the selective breeding of common domestic sheep with achondroplasia. The average-sized torso combined with the relatively smaller legs produced by achondroplasia was valued for making affected sheep less likely to escape without affecting the amount of wool or meat each sheep produced.