Image

When thinking about having a child with dwarfism, the one question I am always brought back to is:

How rare is it? Trying to understand and grasp the “rare” concept can be difficult.

I mean let’s look at the statistics.

Common genetic conditions that affect fetus’s are:

Down syndrome (1/600 live births and increases with advanced maternal age)
Pregnant and age 35 or above (risk of chromosome aneuploidy)
Cystic Fibrosis (1/2500 Caucasian Americans)
Fragile X syndrome (1/1,000 males and 1/800 female carriers of which 30% will be mentally retarded)
Sickle cell disease (1/500 of African American births)
Hemophilia – Factor VIII Deficiency (48/100,000 male births)
Duchenne muscular dystrophy (200/million male births)
Hemochromatosis (1/450 individuals)
Breast cancer (1/8 women of which 5-10% of will have a genetic predisposition)

Let’s face it, we have all meet someone with one of these conditions. Their rare, but not truly rare.

Dwarfism, according to the Office of Rare Diseases says a dwarfing condition affects less than 200,000 people in the United States. Some of the dwarfing conditions listed in their office include:

Achondroplasia

Achondrogenesis

Acromesomelic dysplasia

Cornelia de Lange

Short Rib Polydactyly

Thanatophoric Dysplasia

However, the problems comes in that when one does a search for these dysplasia on the ORD’s website, not a whole lot of information comes up. Why? Because they don’t have enough people with each affected case to give relevant information to you. So where do you go to get the information?

I use LPA’s Medical Resource Center. LPA has established a medical board consisting of a number of highly sought after and dedicated physicians who have dedicated their lives to understanding and gathering information about dwarfing conditions.

In a previous post done way back when, I listed the most common dwarfism types.

“Well, if it’s so common, why can’t I find a doctor to give my information about my child’s dwarfism?”

In most cases, the research has already been done and common tests are already known.

But, this presents a problem if your child has a rare form of dwarfism, such as Metatropic Dysplasia asKaela has or Acrodysostosis as Andrea does, you maybe looking at a situation where there are only 80 or so cases worldwide! WORLDWIDE!

There are over 6,733,867,928 in the world. Out of that 80 may have Metatropic.

How many doctor’s do you think are out there to focus on one type of dwarfism?

Here is a list.

Parent’s have to realize that we will encounter a majority of doctor’s who know nothing about our child’s dwarfism. Okay, so how bad is that? So bad that we have to spell it to them.

I have done this on many occasions, only to receive that look of confusion.

I have also tried to explain to people in general about Knoah’s Achondroplasia, only to have to resort to “He’s a little person” “Yes, he is, how cute” to realize they didn’t catch what I said.

Let it go or explain? Depends on the day.

In my world, Achondroplasia, now is not that rare. I know more people with Achondroplasia than I have fingers and toes. My learning has come a long way in 2 years.

Raising a child with Achondroplasia doesn’t take a rocket scientist. It does take a Geneticist, Pediatrician, Orthopedist, Neurosurgeon and a little imagination. ;)

Image

Recently on Oprah, she featured Kristin Riley, a women with Primordial Dwarfism.

Now, obviously, I wouldn’t have labeled the show Medical Mysteries. I also, wouldn’t have explained dwarfism the way they did. Then again, I don’t have my own TV show, making a tragillion dollars either. I do, suspect though, if given the opportunity, I would be very entertaining….HUM….

Anyway, while I applaud Oprah for featuring Kristin and keeping to the theme of Dwarfism Awareness, education is key. I do think it could have been better presented. People with dwarfism are not medical mysteries. They are not mysteries at all, they are people who are so far and few in between that the medical community hardly touches on their dysplasia, if at all.

If more doctor’s were dedicated to understanding dwarfing conditions, we would all be in a better position to receive the care our loved ones need. Then again, it all starts with us, the parent’s who give birth to these children.

We don’t have a socially predominate cause like Autism Speaks or Breast Cancer. Tens of millions of dollars are thrown to these organization to help find a cure. There is no cure for a true skeletal dysplasia. The only cure to prevent a child from having dwarfism is abortion. We NEED to GET AWAY FROM THIS THINKING!

Educate yourself and other’s.