Primary Source Interview

I performed an interview with an inspirational woman effected by the genetic disorder Achondroplasia, named Ivy Broadhead. She facilitated my understanding of the personal life of one with the disease. We are all human beings, no matter how small, and she decieded to answer some questions for me. Ivy Broadhead is not only a "little person", but also a successful writer for The Evening Chronicle in the United Kingdom.

I asked her:

• What is everyday life like? Does the quality differ from any other human being?
• What limitations does a person affected with Achondroplasia have?

 In most cases, achondroplasia has not stopped the people that are affected from living normal lives. Other than their size and various health issues, there are no other obstacles.In term of health, there will be the common back pain, but most will not experience the more serious of the symptoms. These people feel no shame in asking for help. They develop climbing abilities and use whatever they can find to reach for up high items. At home, they will typically have step stools and few house alterations, such as lower locks for doors.Driving is also not a big issue, as it is possible to do so with pedal extensions. The hardest part is the ridicule. They do not mind the innocent curiosity of children, but it is insulting when it comes from older people.

“We are born, eat, sleep, breathe, work, study, marry, have children, get ill, and die, just like everyone else.” ~ Ivy Broadhead

Here are some organizations that can help someone in need with Achondroplasia:

www.lpaonline.org                    www.shortsupport.org      

Facts, Treatment, and Others

Why should we care about this disorder?

You should care because it involves a lot of people in your country! The effects of dwarfism are seen around the country, for everyone has an equal chance of getting the gene. There are an estimated 30,000 people in the United States and 651,000 internationally with a type of dwarfism. It occurs in one in every 15,000 to one in 40,000 live births. The life span of some one with this disorder is usually about the same. However, they usually have to get some kind of surgery in there back and are in a lot of pain. They also have walking problems and joint pain more often. 

There is no cure for someone with this disease, but scientists are working on ways to create alternate growth factors which can bypass the missing receptor to make up for all the growth. But,

• You can take medicine for human growth hormones that increase bone growth rate
• You can have surgery to correct skeletal deformities; spinal fusion- a surgery to permanently connect otherwise separate vertebrae
• Laminectomy- a surgery to open the spinal canal to relieve pressure on the compressed spinal cord from spinal stenosis
• Osteotomy- the bones of the leg are cut and allowed to heal in the correct anatomical position, for severe knock-knee or bowed legs

 

For more on Achondroplasia and other treatments, check out this professional article: here

SOME INTERESTING FACTS!!!!

1. There are over 200 distinct forms of dwarfism and skeletal dysplasias.
2. People with dwarfism are generally not taller than 4' 10" at adult height. The typical height range is 2'8" to 4'5".
3. Eighty percent of people with dwarfism have average-height parents and siblings.
4. In July 2009 the word "midget" was declared inappropriate and offensive. Preferable terms are: having dwarfism, short stature, little person, lp, and the medical terminology use of dwarf. A person's name is always the most preferred.
5. Achondroplasia, which means "without cartilage formation", is a greek word.
6. The appearance of Achondroplasia is apparent at birth.
7. Its depiction in ancient Egypt makes it one of the oldest recorded birth defects.
8. Older-than-average fathers (age 40 and older) are more likely to have children with Achondroplasia.

Inheritance of Achondroplasia

How does one acquire this disorder?

Well, Achondroplasia is an autosomal dominant gene. The word,"autosomal", means that the Achondroplasia gene is located in chromosome pairs one through twenty-two. What autosomal also means is that males and females are equally affected in terms of inheritance. Knowing this, children can either acquire this disorder from a parent with achondroplasia, which happens about 20% of the time, or you could possibly inherit the gene from a new mutation in the family from normal parents, which occurs about 80% of the time.

I wonder, what are the possible genotypes of the parents for children with Achondroplasia?

The parents are heterozygous actually, due to the fact that Achondroplasia only needs one dominant allele since is an autosomal dominant gene. If you need more information on autosomal genes click here.

Now, what exactly are the chances of a person with this disease passing the disease on if they are autosomal dominant?

If both parents have the gene, with each pregnancy their is a fifty percent chance to have a child with Achondroplasia, twenty-five percent chance of a non effected child without the genetic disorder, and twenty-five percent chance that the child with inherit one abnormal gene from each parent; this can lead to severe skeletal and structural problems that often result in an early death of the child, usually in the first few days after birth. 

For more information regarding genetics and the inheritance of Achondroplasia, check out these two articles here:

medicinenet.com

healthline.com

Symptoms and Possible Diagnosis

For more information on Achondroplasia, check out this video! here

How do you know if you or someone else has Achondroplasia? Here are the physical symptoms:

• short stature, a long trunk, shortened limbs; which are noticed at birth
• an adult height of between 42 and 56 inches
• a head that is large and a forehead that is prominent: portions of the face can be under developed
• at birth, the legs appear straight, but as the child begins to walk, he/she develops a knock-knee or bowed leg deformity
• the hands and feet appear large, but the fingers and toes are short and stubby
• straightening of the arm at the elbow may be limited, but usually does not keep one from doing any specific activities
• children may develop an excessive curve of the lower back and a waddling walking pattern

Other Possible Symptoms:

• dental problems (from overcrowding teeth)
• weight control problems
• neurologic and respiratory problems
• fatigue, pain numbness in the lower back and spine

For more on the symptoms of Achondroplasia, head here

A diagnosis for Achondroplasia can be done at any age, but is typically done at birth. Generally diagnosing a person though, the doctor asks about your symptoms and medical history, and a physical exam will be performed. The strength of your extremities and your bladder control will be evaluated. weakness and loss of bladder are both signs of "spinal stenosis", one of the deformities that somes with dwarfism: 

It is important to follow the doctors advice to make sure spinal stenosis does not develop. For further examinations and procedures, doctors may use the following to examine your bodily structures to have a more accurate diagnosis:

• Radiographs
• MRI Scans
• CT Scan
• X-Rays

For more information on spinal stenosis go to here:

http://www.niams.nih.gov/Health_Info/Spinal_Stenosis/

An Introduction to Dwarfism and Achondroplasia's Background

First of all, what is Achondroplasia? Achondroplasia is an autosomal dominant disorder affecting one of the chromosomes in a persons body: chromosome 4. In other words, Achondroplasia is the most common form of dwarfism.

Dwarfism is not a new genetic disorder, it has been around for a very long time. Throughout history, mentions of dwarfism have been traced back to as early as the civilizations in Egypt. However, the modern day definition of dwarfism can be traced back to a group of scientists in the 1990's. Here are some of the notable team scientists:

• Pierre Maroteaux
• Maurice Lamy
• Dr. John Wasmith

The first modern scientist to mention dwarfism was Pierre Maroteaux, a French Pysician and scientist. Born in 1929, he is largely credit to the discovery of dwarfism by the scientific community because he discovered the link between the genetic disorder and the prenatal micromelic of parents, also known as Lamy-Maroceaux Sydrome. This is was a very important discovery in dwarfism because it lead to further genetic research. For more on Lamy-Maroceaux Sydrome, go here: 

http://en.wikipedia.org/wiki/Maroteaux%E2%80%93Lamy_syndrome

Maurice Lamy, another renowned French physician, worked with Maroteaux and his team. They researched the order and number of chromosomes of patients who are dwarf when they discovered Lamy-Maroceaux Sydrome. This lead to one of the doctors on the team, Dr. John Wasmith, discovering the cause of Achondroplasia. Dr. John Wasmith initially served as a researcher at the University's College of Medicine in 1977. While working on the research team, he discovered the cause of Achondroplasia, the most common form of dwarfism. The team published the findings which mainly stated the cause being in a gene inside the fourth chromosome called , the "fibroblast growth factor receptor-3". He later served as the Director at National Human Genome Center. 

For more information on the researchers and their team go to: 

http://discovery.yukozimo.com/who-discovered-dwarfism/