Why Does My Child Not Cry?

The Human Genome project completed in 2008 allows for scientists all across the world to identify mutations and genetic makeups easier. Despite its greatness, scientists still find issues while trying to find patients who share these specific DNA requirements and that is why scientists insist on studying multiple patients with similar genetic mutations and symptoms in order to identify a new genetic disorder.
Recently eight patients symptoms and genetic mutations were compared and found to have all of the same "disease". Symptoms amongst these patients are liver disease, developmental delays and the oddest symptom is abnormal tear production. These are children that are being compared and it originally started out as their parents wondering why their children never cry. The children that were compared also had hypotonia (body becomes often limp like a rag doll) from a young age.As a parent experiencing a child that has hypotonia and does not cry is a nightmare, however it was even more of a nightmare when they took their children to multiple doctors and they simply turned them away saying the did not know what was happening. After an extensive amount of doctor visits across the world to foreign countries even, it turns out they do in fact have the same disease (NGLY1 deficiency). This deficiency is where there is a mutation in the NGLY1 gene in the body. It is important that scientists continue to compare multiple patients DNA with each other to continue to find diseases and mutations the human body can have.
I strongly believe that in order to diagnose patients, scientists must not limit themselves to only medical knowledge. With more digging on certain unexplained symptoms and mutations, more treatment approaches can be used and practiced and hopefully in the future (for example with NGLY1 deficiency) a successful treatment can be used to cure the disease.

Link to article:
http://www.cnn.com/2014/03/20/health/ngly1-genetic-disorder/
Link to supporting article:
http://www.nature.com/gim/journal/v16/n10/full/gim201422a.html

Don't Cry Kid, It's Just Genetics

71,095 - That is how many base pairs make up the NGLY1 gene. That is only 0.0000236% of the 3 billion base pairs that make up the human genome so no big deal right? Wrong. This gene is located on the third chromosome and codes for the production of the enzyme N-glycanase. When there is a mutation or deficiency in the NGLY1 gene, the enzyme cannot be produced which leads to an accumulation of glycoproteins in the cells. This is a rare genetic disorder that has just recently been discovered. It's symptoms include developmental delays, a smaller head, signs of liver damage, seizures, hypotonia (movement disorder that causes the individual to be limb like a rag doll), eyes that wander in different directions and, (referring back to the title) a lack of tear production.

The first popular case of this disease was discovered in two-year-old Grace Wilsey by Matthew Bainbridge. Grace’s parents realized there was something wrong with Grace when she was a newborn. They saw over 100 doctors before discovering the genetic mutation on the NGLY1 gene. Grace’s story is still ongoing. Her family and doctors’ search for other NGLY1 patients (14 found so far) and are raising funds to look into treatment options.

Grace Wilsey and her parents

I decided to do this article because it fascinates me that such a small piece of DNA can have such an impact on multiple systems in a person’s body. While so much money is being directed towards research of more common diseases, these rare disorders that only affect a small percentage of people are often put on the back burner and never cured. 

Grace Wilsey Foundation - Rare is not an excuse

New Genetic Disorder Linked to Crying

Every parent's biggest nightmare is their child having any diseases or disorders. For the Wilsey family that nightmarish unfortunately became their reality. Their daughter grace was a very lethargic baby and her parents discovered that there was something wrong. There was a lack of mental presence in her eyes and getting their child to eat was a difficult task. Doctor could not figure out what was wrong with this child, no matter how many tests were run.

  Finally, the Wilsey family took their daughter for genetic testing at Stanford University. Dr. Bainbridge ran hundreds of genetic sequencing tests and was perplexed by the DNA mutations found. He then found an article on a new genetic disease discovered at Duke University. Patients with this disorder lack  NGLY1 enzyme.  A key symptom for this disorder is that patients with this cannot cry or produce tears. Grace was only the second person to be diagnosed with this disorder. Since then there have been many other patients who have been labeled with this disorder. Five treatment approaches are currently being researched and with the hard work of many geneticists, people living with this disorder will soon have options.

Original Article: http://www.cnn.com/2014/03/20/health/ngly1-genetic-disorder/

Related Article: http://www.medicaldaily.com/when-babies-dont-cry-doctors-discover-new-genetic-disorder-affects-childrens-eyes-muscles-and-liver