Search This Blog

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…)


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.  


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.


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.


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.


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.

Sunday, October 16, 2016

A Little Family History

Before I was born… let me explain a bit about where I came from.  Or rather, WHO I came from.  
The story goes as follows:  

My mom, Diane, was born in Tremonton, Utah to Jay and Lola Roberts.  Before her, they had three boys: Ron, Tony, and Gary.  Jay was a dairy farmer for a little while, worked for the IRS, loved Green Pineapple Icecream, Oatmeal, and could do a lot of pull ups. He also ate and sneezed REALLY loud.  Francessa Summers was the only great grandparent I knew even though she technically wasn’t related.  She raised my grandma Lola after her birth mom died.  Lola was a traditional Mormon and Kindergarten teacher.  She had a variety of cool books and school supplies in her house. I don’t know much about my uncles Ron and Tony, because neither of them live in Utah, but I know Uncle Gary the best.  Every year he used to throw an epic New Years Eve party.  Like me, Mom was the baby girl of the family, born and raised in Utah.  On her side of the family, I’m right in the middle of the generation gap, so all my cousins are a lot older than me, and all of their kids are a lot younger.  It can get kind of awkward at large family parties.

My dad, Wayne, was born in Soda Springs, Idaho to Paul and Linnea Stevens.  He was the 7th of 8 kids: Bruce, Jeanie, Tex (the favorite), Marie, Ann, Dave, Wayne (my dad), and Nancy.  I never knew my grandpa Stevens, but from what I here, he was a tough guy.  He served in the navy and hunted deer and chopped down trees in his spare time.  My grandma Linnea is one of the sweetest women you will ever meet.  She is mild natured and loves to go shopping and decorate.  Of all my grandparents, she’s probably the one I know the best.  She still lives in the house I grew up in, and has a lot of great grand kids.  I’m also the youngest on that side but I do have two cousins close to my age and we get into all sorts of shenanigans together. 

My mom and dad met one day at a ward dance when they were going to school.  My mom studied accounting at BYU, and my dad was studying collision repair at Utah Technical College, currently known as UVU.   They both lived at the Riviera Apartments.  My dad was only 17, and will say my mom loved to tease him for being so young.  He tells me how him and his best friend, Doug, used to watch to see if she was at the pool, and grab their swimsuits and towels as soon as they saw her there.  It’s a funny story about when she met Doug… I’ll tell you if you ask.  A couple years later, my dad went on a mission to Argentina.  His dad was really sick, and passed away while he was out.  Him and my mom wrote each other for a while… until she got married.

My mom married Blair, the son of Max and Melba Fredrickson, who still live in Utah and hold a Christmas party every year.  My mom had a baby, Stacy, who only lived a couple of weeks.  After a while she had Marilee, and then Katie, my two older sisters.  I will write much more about them, because they are huge influences in my life.  Eventually, Blair and mom got a divorce.  A while later, Blair got remarried to Sheri and they had Tanner, who went to the same Jr. High and High School as me.  I just call him my brother from another mother. ;)  Sheri had a daughter named Chalise, who was a little bit older than Marilee, from a previous marriage. 

Meanwhile my dad came home from his mission.  His sister Jeanie said she saw my mom in Bountiful and told him that she was divorced too.  Eventually they started dating, my dad finished getting his Bachelor’s degree in Mechanical Engineering, and they got married in the Jordan River temple.  A while later they had… me!  The first “little person” in the family.  :)

Saturday, October 8, 2016

A LITTLE intro...

Before I get into the details of where I come from and who I am, I'd like to tell you a little bit about myself!  SMALL TALK first here, people.  We'll get into the nitty gritty later... like my childhood and all that fun stuff.  For now, here are some fun facts about what I'm like today:

My favorite things to do are art and swimming.  
I am a DIE HARD Lion King fan, it’s my all-time favorite movie.  
Mulan is my favorite disney woman and role model.  
I am four feet tall and 21 years old.  
I love animals, especially cats.  
I love people.  
I like pretty much every kind of music depending on the mood I’m in.  
My favorite candy is dark chocolate with sea salt and caramel.  
My favorite color is green, but blue and red are tied for a close second.  
My favorite food always has been pasta with cream sauce, chicken, potatoes, and honey bunches of oats.  
I want to live in Switzerland and South America.  

I love the smell of rain, freshly cut grass, dug up dirt, petunia flowers, camp fires, and Calvin Klein’s ONE perfume.