ABOUT RING 14

Ring-14 is a chromosomal condition and intellectual disability. The “ring” is formed by both ends of the chromosomes joining together. This disease can be found through a chromosome analysis. An organization specializing in rare diseases focuses in on Ring-14 saying, “Ring-14 chromosome damage is associated with a number of frequent signs and symptoms and results in disease characterized by both syndromic intellectual disability in addition to multiple phenotypic abnormalities.”

 

The actual number of those affected is not certain but there are only around 50 cases actually charted in the United States. 

 

A doctor specializing in rare disabilities and chromosomal discrepancies said that this particular condition can have an impact on a person’s retina and/or their central nervous system. The organization accredits this by going into more depth. In a person’s retina it can cause discoloration and within the central nervous system it can on-set epilepsy. Language with this condition is usually very limited but this can vary person-to-person.

 

The site also talks about more physical aspects of the condition and some factors it can cause. “These include flat occiput, high and rounded forehead with a pronounced metopic ridge, mild ptosis,epicanthal folds, elongated face, enlarged nose root with rounded nose tip and anteverted nostrils, long philtrum, low-set ears with voluminous lobes and prominent anthelix, microtrognathia, short neck; and more rarely, lymphedema of the back of hands and feet.” The condition can also show as short stature, slow growth, a small head, puffy hands and or feet due to fluid build-up, and some subtle differences in their facial features. Discoloration is not limited to the retina but can also show up in skin pigmentation.

 

For this condition to be seen, an electroencephalagram (EEG) is important in finding where in the brain, this condition affects most. Usually, the brain has what looks to be a normal brain structure, but certain areas beneath the outer covering influence the symptoms of this condition. The temporal lobes usually have the most problems since they deal with the vision and can sometimes trigger epilepsy.

 

Ring-14 can show itself differently on every person with this condition and since it is so rare it can be determined by an EEG, Neuroimaging and simple chromosome tests. Seizures are a major condition involved with this condition as are difficulty in motor skills, language, and speech. Speech can be difficult for the person and they can either choose not to speak or have very limited speech.  The United States Library of Medicine states that seizures can be a direct result of the shape of the chromosomes and how and where they are jointed. The U.S. Library of Medicine states that major birth defects are rarely seen with Ring-14 and this condition does not affect vision on those who have it. However, people with this condition and disability can be highly susceptible to contracting recurrent infections and/or nervous system issues due to problems with their immune systems. 

References:

http://www.ring14.org/eng/250/home/188/syndromes-of-chromosome-14-defects/    https://ghr.nlm.nih.gov/condition/ring-chromosome-14-syndrome

LISA

What does Ring 14 mean to you?

Ring 14 causes Lisa to have many seizures that are difficult to control. And for several hours after a seizure, she is not able to speak very well, prefers not to socialize, and is very agitated until the post-ictal state wears off and she feels herself again. Sometimes her intellectual disability makes her feel frustrated because she cannot be as independent as some other people, she said, so she often chooses to stay home.

What do you want me to know about you?

Lisa is a very special person, because only about 60 people in the entire world have been diagnosed with Ring 14. She has attended conferences with some of these other people, however, which has led to her making some special friendships with people from all over the world. She is very sweet and loving, her mother said, and much more verbal and active than many other people who have Ring 14 are able to be.

What is the best way to communicate with you?

Just talk to her like you would anybody else. You might have to repeat yourself a few times, but just try to hold a normal conversation with her.

How do you want the community to respond to your disability?

Lisa just wants to be accepted. She appreciates others’ help when needed, especially if she is alone and unsure of where to go.