NavigatingLifeWithLMS

This post may contain affiliate links. Click here for more information.

Rare disease day, February 28th (February 29th on leap year), is a day to recognize those affected by a rare disease/disorder. Better yet those who are a limited edition embracing rare “disease.”

In the USA, more than an estimated 25 million people are living with a rare disease. There are about 7000 different rare disease/disorders worldwide.

Did you know, in the USA, a disease/disorder is considered rare when less than 200,000 people have it? What if that number were smaller, let’s say, less than 50…worldwide? That’s the case for my daughter and the 10 other families we have been in contact with alao living with Lateral Meningocele Syndrome (LMS).

Chances are, you have met someone with a rare disease, whether you know it or not. Some rare diseases/disorders show no visible characteristics, while others do.

MORE ABOUT LMS

LMS is a connective tissue disorder, and in my daughter’s case, resulting from a change in exon 33 of the NOTCH3 gene. This change causes the receptor protein if the NOTCH3 gene to malfunction.

The main feature of LMS is lateral meningoceles (cerebrospinal fluid-filled cysts, branching off the spinal cord, poking through parts of vertebrae) present in all individuals diagnosed.

There are many characteristics of LMS that differ in every individual. Generally, distinct facial features such as small recessed chin, low-set ears, flatter midface, among others are present. Other features found in LMS include low muscle tone, loose joints, scoliosis, cleft palate, Chiari malformation (part of the brain grows into the spinal cord), and heart defects to mane a few.

WHAT DOES IT ALL MEAN

Even with limited edition characteristics, these kids want the same things all kids want. These kids want to be loved, accepted, played with, and treated like everyone else. They want friends, family, and a world to love them for who they are.

Teach your kids to love people for what’s on the inside. Encourage others to look past differences. People with rare diseases/disorders want the world to embrace their rare too.

The world says LMS is rare, I say limited edition. These kids have the best personalities and are so resilient. Working harder to reach each and every milestone, they are the face of strength and determination. Most importantly, they are human, just like everyone else…made with an extra dash of awesome.

LINKS FOR MORE INFORMATION

About LMS – https://ghr.nlm.nih.gov/condition/lateral-meningocele-syndrome#genes

NZORD rare disease databases – https://www.nzord.org.nz/helpful-information/rare-disease-databases

NORD National Organization for Rare Disorders – https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/

Global Genes rare list – https://globalgenes.org/rare-list/

Genetic And Rare Diseases information center (GARD) – https://rarediseases.info.nih.gov/diseases

An article my daughter’s neurosurgeon wrote about her – https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/19/2/article-p232.xml?journalCode=ped.1

Peace, love, and happiness to all❣️

DON’T FORGET

I hope you enjoyed this post enough to hit the share button below. Be among the first to know about new posts by hitting the subscribe button at the bottom of the page!