LMS – Disease or Syndrome
As the mom of a little girl (Kailanie) with Lateral Meningocele syndrome (LMS), I wonder, why do some classify it as a disease, when it is clearly a syndrome? The Genetic and Rare Diseases Information Center (GARD), and Orphanet Rare Disease Ontology (ORDO) are two examples of rare disease databases listing LMS. Oh, but you thought LMS was a syndrome, did you? A disease and a syndrome may seem similar, but they clearly mean different things.
Getting technical with definitions
What is a syndrome? Now personally, I think of a syndrome as a cluster of symptoms and characteristics that typically are the result of genetic anomalies, and lasting an entire lifetime without the possibility of a cure. Treatment options may be available, though some symptoms and characteristics will likely remain for the duration of life. Here is the definition of a syndrome in oxforddictionaries.com
“A group of symptoms which consistently occur together, or a condition characterized by a set of associated symptoms.”
I cannot speak for everyone, but I consider disease as something not always present from birth. A disease can be life-threatening or limiting; possibly offering some form of treatment or cure. I believe many factors along with genetics make certain diseases more likely to occur. Dictionary.com defines disease more technically as
“a disordered or incorrectly functioning organ, part, structure, or system of the body resulting from the effect of genetic or developmental errors, infection, poisons, nutritional deficiency or imbalance, toxicity, or unfavorable environmental factors; illness; sickness; ailment.”
Comparing and contrasting
In the medical field, when genetic anomalies are the source of symptoms, it is called a syndrome. LMS, for instance, is a connective tissue disorder resulting from a mutation in the NOTCH3 gene. In the case of Kailanie, there was a change to the NOTCH3 gene, and the result was LMS.
Occasionally genes can have a part in diseases too but are not the direct cause of disease. Kailanie also has Acute Lymphoblastic Leukemia (ALL). Her leukemia is B-cell instead of the suspected T-cell. A genetic anomaly affecting NOTCH3 is typically linked to T-cell leukemia. Although It turns out her ALL is likely not a result of a genetic issue as it was initially suspected.
Putting all this information together, consider this: diseases can become a lifelong illness that do not always begin at birth. There is also some potential for a cure. Causes also vary including environmental, genetic, etc. Now syndromes, consisting of numerous symptoms and characteristics, are generally not classified as curable. The medical field tends to use “syndrome” when genetic anomalies are the cause of symptoms.
Drawing my conclusion
It seems that genetics has a place in both diseases and syndromes. However, genes play a more significant role in a syndrome, while diseases have many other contributing factors. It is still unclear why so many feel the need to Intertwine the two to create an unorganized clusterfuck of medical issues. Perhaps convenience of is the motive?
Speaking specifically about LMS, symptoms include meningoceles, loose joints, low muscle tone, small jaw, Chiari malformation, heart defects, tethered spinal cord, scoliosis, and many more. Repair of some symptoms is possible, just not possible for all. LMS is the result of genetic changes with no cure. In my eyes, Lateral Meningocele Syndrome will remain just that, a syndrome.
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