Achondroplasia (akon-dro-play-see-ah)

  • Achondroplasia is one of the most common forms of dwarfism.
  • It affects 1 in every 15-40,000 births.
  • The average adult height is 4ft for both men & women.
  • The life span of someone with achondroplasia is the same as anyone’s.
  • Intelligence again is no different to that of an average person.
  • Achondroplasia is a medical condition NOT a disease.

Characteristics of someone with achondroplasia:

  • Disproportionate short stature. Legs and arms are short in comparison to the body.
  • Prominent forehead (frontal bossing).
  • Protruding jaw.
  • Flat or even depressed area between the eyes.
  • Bowed arms & legs

A chemical change within a single gene causes Achondroplasia. It is not caused from anything the parents have done during pregnancy or before, the condition has started from a autosomal dominate condition. What this means is that a new mutation or genetic change has started during conception. The condition may also be passed on from one generation to the next; nine out of ten children born with this condition have average-sized parents. If one parent has Achondroplasia there is a 50% chance there child will inherit a single copy of the gene, if both parents have Achondroplasia there is a 25% chance the child will have a double dominant gene and a 75% chance of a single Achondroplasia gene: The gene is called FIBROBLAST GROWTH FACTOR RECEPTOR (FGFR3) and everyone no matter who you are, carries this on their fourth chromosome.

 

Becca Henderson 26/03/2017.

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A dip in to dwarfism

Welcome. In my 30 something years of life I have never wrote a blog or anything about my life.

My life is different to say the least, from that of your average Jo. I live with a medical condition, most commonly known as dwarfism but in medical terms it is the most common form or dwarfism called Achondroplasia (Akon-dro-play-see-ah).

Let’s talk about medical/genetics firstly. Babies born with achondroplasia more often than not are born to parents of average height. That’s right, any one can have a child who has dwarfism. The gene for achondroplasia is at the end of the fourth chromosome in everybody. From birth a child with achondroplasia is born with spinal stenosis. Spinal stenosis is the narrowing of spaces in the spine (backbone) which causes pressure on the spinal cord and nerves. About 75% of cases of spinal stenosis occur in the low back (lumbar spine). In most cases, the narrowing of the spine associated with stenosis compresses the nerve root, which can cause pain along the back of the leg. Having said this most problems from spinal stenosis do not occur until later in life. These can include low back pain as well as pain in the legs. Stenosis may pinch the nerves that control muscle power and sensation in the legs. Additional symptoms may include frequent falling, clumsiness, pain and difficulty when walking, numbness, tingling and hot or cold feelings in the legs. Babies with achondroplasia can also be born with hydrocephalus which is when the narrowing near the base of the spine prevents cerebrospinal fluid (CSF) from flowing freely around the brainstem or in and out of the skull, the CSF collects in ventricles (spaces in the child’s brain). The resulting condition is hydrocephalus. In babies, the most evident symptom of hydrocephalus is a quickly enlarging head circumference. Additional symptoms include, headaches, irritability, lethargy and vomiting. Because an enlarged head is normal in children with achondroplasia, pediatricians can use a special head circumference growth chart to distinguish between normal achondroplasia growth and possible hydrocephalus.

Secondly I want to touch on my personal life and that of other people with achondroplasia as adults. I first started noticing I was different from my teenage years. I noticed the stares, the whispers, the awkwardness people had approching and communicating with me. I found it very hard at secondary school. I was a very shy girl which alone made it hard to make friends. But being different and in some kids eyes comical, made it much harder. I was always the one sitting on my own, the last one to be chosen for group activities, except in sports. They’d always chose me because the PE teachers made things easy for me, for example in rounders I only had to run around the bowler and then touch the fourth post! But too be quite honest this experience has made me the woman I am today. I have children of my own, which I’ll touch on more in another blog and I am very confident if not overly confident. I can be quite a ‘rottweiler’ when defending myself and my own!

As a woman with achondroplasia my experience with dating has been very difficult. I was in a relationship from quite a young age at 18 with another man who had my condition. We were together for 10 years & married with 2 sons. But we divorced back in 2009 for the good of us all. I was stupidly eager to get back in to the dating scene. So I tried internet dating for a few years. Very unsuccessfully. I dated a handful of men who either found me overly intriguing or too much to cope with because of my achondroplasia. Unfortunately women with dwarfism are very sought after within the adult explicit video industry and men that have watched such things often search out females with dwarfism. This is something that Dwarfism Life strives to change. Thankfully last spring I met my soulmate on a Facebook forum for people who have achondroplasia in the UK. He too has achondroplasia. We’ve been together for almost a year now and are getting married in August 2017.

Becca Henderson 26/03/2017