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MONIQUE - Pseudoachondroplasia

My name is Monique, I am 34 years old, and I have a Bachelors in International Studies. In my free time I love to read, specifically political and historical books, travel the country, and spend time with my family and friends. I have a type of dwarfism called Pseudoachondroplasia or Pseudo. Pseudo stems from the mutation of the COMP (cartilage oligomeric matrix protein) gene. This gene is what makes your cartilage grow and harden into bone. Pseudo is a type of dwarfism that is dominant, but not diagnosed in utero or at birth. We look like any other average baby. Our growth becomes delayed around one and a half to two years old and we can become delayed in some of our physical milestones. Pseudo is typically not diagnosed until the toddler years unless one is familiar with Pseudo and can spot subtle physical characteristics of that. Growth hormones are not recommended for Pseudos because we are not lacking in growth hormones.

All Pseudos are not the same, some are very physically active with minimal orthopedic issues while others have had the gamut of issues such as severe scoliosis, bowed legs, arthritis, joint replacements, neck instability, and the usual Pseudo waddle. Final height of Pseudo depends on how tall your parents are; whether or not they are average height or Pseudo. Pseudos range in height from 2'11 to 4'0ish. I am 3'4 (thanks to my new hips!) My mom was 3'2, and she was on the smaller end of Pseudo because her mom, who is average height, is only 5'2. Pseudos have an average life span (I'm shooting for 100) and Pseudo women are able to have children and deliver through C-Section.

Living with Pseudo has presented a few challenges for me such as having arthritis since the age of four. Because of having osteoarthritis it has lead to having both of my hips replaced and having unstable knees. The hip replacements were a success though and I am back out there enjoying life! Another challenge has been job searching as I need to think long term and choose wisely based on what I can physically do now and in the future.

In my daily life I use a stool in my home, pedal extenders in my car, and a scooter when I am out in places that require long distance walking. I have no problem asking for help when I am out, but I always try first before asking. I would say having Pseudo has lead me to be a great problem solver by thinking outside of the box and coming up with solutions quickly. Some may see all of this as suffering or having a hard life. I would have to disagree. I do not and have not suffered nor do I feel my life is hard. I would say I have a pretty good life, I just do things a little differently to get things done."

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