Achondroplasia (Part 2)

Dwarfism Awareness Month, Day 12: Achondroplasia, part 2.

What are you looking at?

Achondroplasia literally means "without cartilage formation". Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia, 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.

People with achondroplasia can develop health problems such as:

- Sleep apnea, where breathing can slow or stop for short periods.

---> (I don't suffer from this).

- Obesity

---> (Another one I don't suffer from, unless you ask that kid from Costco earlier this year - refer to my previous blog post about "kids say the darndest things").

- Recurrent ear infections.

---> (I've definitely had my fair share of these, including several operations on both of my ears for the inserting of tubes or grommets, repairing my ear drum, and most recently, when I was diagnosed with a cholesteatoma. A cholesteatoma is an abnormal, noncancerous skin growth that can develop in the middle section of your ear, behind the eardrum. It can lead to many complications if not removed such as facial paralysis, complete deafness, constant ringing in the ear and/or vertigo).

- Suffer from numbness or tingling in their legs because of nerve compression.

---> (pretty good with this one too).

As someone with achondroplasia, as mentioned in the previous post regarding how it occurs with a mutated gene, this can affect if/when I decide to have kids.

If I was to have a child with an average sized woman, the result of the child being averaged size is 50/50. Meaning the result of the kid being a dwarf or little person is 50/50.

If I was to have a child with another dwarf or little person, there are several factors needed to be taken into account but for the most part, the odds are:

- 1/4 it will be of average height thus not inheriting the mutated gene from either parent.

- 2/4 it will be a dwarf or little person, thus inheriting the mutated gene from one parent.

- 1/4 it will inherit the mutated gene from both the mum and dad and potentially be born with many health complications, or may not be born at all and result in a miscarriage.

This concludes my informative insight into achondroplasia. I hope that by reading both blog posts on achondroplasia (part 1 and part 2) that you now have a better understanding of people that have achondroplasia.

Thanks for reading!

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