Achondroplasia Dwarfism: 2009

Friday, February 20, 2009

Citations

How possible is it that a cure for dwarfism will be found?

There are multiple foundations, and organizations that are working together to find a cure to dwarfism. So there is a chance with the right amount of funds, and research that a cure will be found. All though no huge break through have been made recently, there is still much hope. More and more people are donating and helping to find a cure, which makes it much more likely to find a cure to dwarfism. Unfortunately it is still not very likely that a cure will be found.

What are some organizations that help families cope with dwarfism?

There are many organizations and foundations that have been set up to help with funding for treatment, and coping with dwarfism. One is The Billy Barty Foundation, (http://www.allbusiness.com/4040429-1.html) which has been set up to help to give a scholarship to little people. Its goal being to improve the quality of educations for dwarfs.

Another organization is the Dwarf Athletic Association of America, (http://www.daaa.org/) which was set up to provide athletic support to little people. This is a non-profit organization.

The Little People of America, (http://www.lpaonline.org/mc/page.do) is one of the largest organizations created specifically for little people. The Little People of America provide information, and support for people including children that have dwarfism, and their families.

There is also a Little People's Research Fund, (http://www.lprf.org/) which offers financial support to families with relatives that have dwarfism.

The MAGIC Foundations, (Major Aspects of Growth In Children) (http://www.magicfoundation.org/www) helps with all kinds of growth defects in children. The Foundation helps get answers for why these growth defects occur.

Thursday, February 19, 2009

What limitations do little people have?

Little people often face many challenge on a day to day basis. Activities such as driving cars, or even reaching the book on the top shelf are much more difficult for little people then for average sized people. Matt Roloff, the father of the family on the T.V. show Little People Big World, owns a farm where he has to deal and overcome all the challenges of working on a farm. Things such as moving dirt, or moving hay require a lot of effort. But Matt Roloff makes it all seem easy by not letting limitations like this get in his way. The majority of little people do not feel as though they have limitations, just hurdles to overcome. Little people use their resources to figure things out, much like normal people. The following is a quote from a little person:

"Well I tend to think of them (life's challenges) as small hurdles, not challenges. But I do in fact face issues everyday with my height."

What is everyday life like with dwarfism?

Dwarfism is a fairly common disease in today's society so there are many ways to adapt to everyday life. Things such as pedal extensions let little people drive cars and other transportation devices. Things such as foot stools and small ladders also help with around the house activities. There are also cabinets, toilets, and even stairs there can be specially made for little people, this greatly helps them to live life as normally as possible. In fact the majority of little people, strongly believe that they can carry out life, just as normally as people of regular height, with a few minor changes. The following is a quote by a little person:

"The biggest point I'd like to get across would be that we are people just like you, we have the same hearts, minds and bodies too! The only difference is ours are just a little smaller proportioned than the average person. Daily, little people have to overcome obstacles to get what they want, that just makes us stronger and more determined than ever! I wouldn't trade my life and my family for anything in the world!"- Lauren

How can dwarfism be treated?

Dwarfism can not be directly corrected. Although there are therapeutic intervintions, that greatly help little people reduce pain, or increase their height, or even help with adapting to society. There is also the option of injecting a thyroid hormone that can alter the effects of dwarfism, but there is a great chance of other physical complications, that will be permanent. Surgery is also an option, but not one usually taken, because of the very prominant side effects. A procedure called limb- lengthening is a more common type of surgery, but is very painful and is very costly.
There are much simpler ways to help deal with dwarfism through physical therapy, or orthopedic devices, such as braces or canes. Treatment can even get down to things as simple as shoe lifts, or styling hair in a upward fashion.

What is the life expectancy of someone with dwarfism?

The length of life in a little person greatly varies, depending on the severity of their condition. The youngest has died at an age as early as 20, but many dwarfs lead completely normal lives and life just as long as regular humans. In the United States that age is around 80. But many do die around the average age of 70. Of course the living conditions in different regions of the world will affect the life expectancy.

What are the physical symptoms of dwarfism?

Some of the physical symptoms and conditions of people with dwarfism include: a large head, abnormal bone alignment, and being incredibly short. Most little people have an average sized trunk, with shortened limbs. Many dwarfs will also have delayed sexual development, and can have slightly impaired intelligence. Also many little people have joint damage and suffer from scoliosis, causing them great pain. Restricted lung growth also is present in little people, and can lead to other life threatening problems, and difficulties.

Wednesday, February 18, 2009

How is Dwarfism diagnosed?

Dwarfism can be diagnosed mainly by the visible nature of the person's condition. Dwarfism is usually diagnosed in childhood. There is, however, a physical examination that can be given to a person believed to have dwarfism.There can be genetic testing and x-ray's taken of some one's bones to see if they have even a slight case of dwarfism. Many people are referred to a genetic counselor after they are tested or diagnosed.

What are the chances of a person with this disease passing the disease to their offspring?

There is a great chance that the genetic mutation will be passed on, because it is a dominant mutation. In fact many children do contract this disease because it is prevalent in their family pedigree. In a popular reality T.V. show, on TLC, a family with dwarfism is recorded taking part in their day to day lives. The show called, Little People, Big World, is growing in popularity and is quite interesting. Both of the parents in the family have dwarfism, all though this disease is dominant, only one of the couples 4 children have dwarfism.

How prevalent is Dwarfism?

There are over 200 types of dwarfism in today's society, including: achondroplasia, diastrophic dysplasia, spondyloepiphyseal dysplasia, and hypochondroplasia. Achondroplasia is the main kind, prevalent in over 70 percent of dwarfism cases. In America about 1 in 20,000 people contract the disease, dwarfism. Many cases are passed down, and are just involved with families that are all connected to each other. Because dwarfism is dominant in families many people contract it.

What are possible genotypes? Abnormalities?

Some of the possible genotypes for the parents of a child with dwarfism is a RR mother, and a RR father, then 100 percent of their children will have dwarfism. If a both of the parents are Rr then 75 percent of their children will have dwarfism. If one parent is RR and the other parent if Rr then all of their children will have dwarfism. Also if the mom is Rr and then dad is rr then at least 50 percent of of their children will have dwarfism. The abnormality of dwarfism is a faulty allele, a mutation in the growth factor in gene 3. The mutation is also called FGFR3.

How does a person inherit Dwarfism? Dominant or Recessive? Genetic or Chromosomal?

Dwarfism is a inherited mainly by a mutation in the fibroblast growth factor receptor in gene 3, this mutation inhibits bone growth. Considering the fact that most people do not have the disease, dwarfism, would be recessive in families with no history of dwarfism.
But dwarfism is very commonly passed down, from parents to their children. In this genetic case dwarfism is an autosomal dominant disorder, caused by a faulty allele in a person genes. Being autosomal means that both males, and females can contract the mutation and contract the disease. Dominant is saying that in families with dwarfism in it's pedigree, in family history, it is more common that the offspring of the parents will have dwarfism.

What is a Genetic Counselor?

Genetic Counselors are required to have a Master's Degree in Clinical Training.
There are multiple specific jobs genetic counselors do including: research, clinical work, commercial work, teaching(education), public polices, and working in diagnostic laboratories. In general Genetic Counselors work with a health care team, and with specific families. Genetic Counselors provide counseling for families with genetic disorders, or people and especially children with the risk of contracting a genetic disorder.

Achondroplasia Dwarfism