Living With Kniest

Today continues an ongoing series wherein members of CrossFit Survival have been asked to contribute to the blog. They can choose to write about anything they want, so long as it relates to fitness, motivation or the like.

Rosa Balderrama is the author of today’s blog. Per my request, she has chosen to educate everyone about Kniest Dysplasia.

Living with Kniest Dyspasia by Rosa Balderrama

When I first came to CrossFit Survival (it was then known as Team Survival Fitness Boot Camp), I was still recovering from a hip fracture. I was only able to walk a block and was very limited on what I could do. I couldn’t do sit ups without a ball. I couldn’t lift any weight. I couldn’t squat. I could only step on a six inch box, and I had to hold onto something to stabilize myself enough to do it. I couldn’t hang from anything. Shannon was able to modify all my workouts according to my ability.  That was over a year ago.

Today I can walk at least 2 miles, do sit ups from an ab-mat, squats to a ball, do scaled hanging-knees-to-elbows and step up onto a 10” box without help. I also have a 90 lb deadlift, a 45 lb back squat and can press 45 lb overhead.

I would like to educate you about Kniest Dysplasia which is what I have.

I was born with Kniest.

My gene is a mutation gene, which means it happened one time. My parents are not carriers of this gene, I am the only one in my family that has Kniest, I am number 6 out of 8 kids from my mom and dad--yes big family. It sucks, but life goes on.  

Here is a description of Kniest:  

Kniest Dysplasia is a very rare condition that leads to short stature, malformed bones and joints and sometimes hearing and vision problems.  This condition was named after Dr. Wilheim Kniest in 1952.

At birth, abnormalities include short limbs, eye problems, joints that do not extend all the way and may be swollen, decreased hearing and/or a cleft palate, Other symptom’s include a curved spine, instability of the cervical spine C1 and C2 (vertebras in the neck). When neck instability occurs, it requires a neck fusion. This happened in my case at age 22.

A person may have some but not necessarily all of the above symptoms. Kniest is a random genetic change.  Kniest is usually sporadic and is due to the chance occurrence of a genetic mutation.  It is the result of a genetic defect in encoding type II collagen (COL2A1).  Most Kniest mutations are due to small changes on chromosome 12.  Note that this is a purely random occurrence and that there is nothing either parent did to cause this genetic change.

Kniest has an autosomal dominant inheritance.  When a person has Kniest, like me he/she has a 50% chance having a child with Kniest.  I was originally misdiagnosed with Morquio Syndrome (this is an inherited disease in which the body cannot break down sugar molecules. Two of the symptoms are underdevelopment of the bones and short stature.) In order to have children with Morquio Syndrome, the husband has to be a carrier too, and Charles is not. However, when we had our second child to our surprise he also had the same symptoms I had. Of course, then we had genetic counseling, and it was proven that I did not have Morquio Syndrome. What I had was Kniest.

Kniest is a very rare condition with a lot of variation.  It is important to be as lean as possible to reduce stress on joints.  There are orthopedic issues like hip, spinal and knee complications.  Additionally, due to poorly developed type II collagen, people with Kniest may experience arthritis.   We also have to avoid activities/sports that could result in trauma to the neck or head.

 It is a lot to take in.  I know this disease sounds horrible and truthfully it sucks, but I have learned to deal and live with it all my life. Some days are good and some days are bad--life goes on.  I love life, and with the grace of God he gives me the strength to go on. God has taught me to be joyful.  I look at other people with Kniest and I am not nearly as bad. I am thankful I can walk and come to Crossfit and kick ass.

Did you get the part where it says we need to be lean? Well, that is my goal.

Editor’s note:  Rosa Balderrama is an amazing woman. She is also a spectacular Paleo cook. She was the driving force in getting her self-professed (former) couch-potato husband into CrossFitl. She sets a good example. She’s a great Mom. She shows up. She works hard. Give her the chance, and she’ll make sure you do it right. We are proud to have Rosa Balderrama as part of CrossFit Survival! 

RESULTS FROM YESTERDAY'S WOD

Allrighty now! Turns out 10 Rounds was a bit much, as 5 rounds kicked everyone's asses!

Well done to everyone who showed up and got it done.

How about these firsts?

Lily got her first handstand!

Christie got her first kipping pull-up!

DON'T FORGET FRIDAY NIGHT'S WOD IS AT 6:30PM AT FIGHT FORUM-2662 HONOLULU AVE IN MONTROSE. LET'S EDUCATE THOSE MMA FOLKS ABOUT CROSSFIT!

In keeping with honoring those fallen and those serving, we are going to be doing 

"Lumberjack 20"
20 Deadlifts (275lbs)
Run 200m (original calls for 400m)
20 KB swings (2pood)
Run 200m
20 Overhead Squats (115lbs)
Run 200m
20 Burpees
Run 200m
20 Pullups (Chest to Bar)
Run 200m
20 Box jumps (24")
Run 200m
20 DB Squat Cleans (45lbs each)
Run 200m

On Nov. 5 at 1:34 p.m., a terrorist named Major Nidal Hasan attacked fellow soldiers and civilians at Fort Hood, Texas. When the shooting ended, he had killed 12 soldiers and one civilian and wounded 43 others.

Spc. Frederick Greene, 29, of Mountain City, Tennessee, Pfc. Aaron Thomas Nemelka, 19, of West Jordan, Utah, Pfc. Michael Pearson, 22, of Bolingbrook, Illinois, and Spc. Kham Xiong, 23, of St. Paul, Minnesota, along with eleven of the wounded were active CrossFitters in the 20th Engineer Battalion, home to Lumberjack CrossFit.

This workout is in honor of these soldiers, one month after the murderous rampage. We are asking the CrossFit community to make donations in honor of these soldiers at cflumberjack.org.