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Harper's Story


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Harper's Story


Harper Lynne was diagnosed...

Harper Lynne was diagnosed with a rare chromosome deletion of 5q14.3 on her first birthday. After researching this deletion we recognized that our little girl will be experiencing many developmental delays. We were ready to take on this challenge and quickly got occupational therapists, physical therapists and developmental instructors involved. We were ready to help our child. But what we weren't prepared for was at 18 months Harper began getting fevers every three to four weeks. These recurring fevers would spike very high and cause seizures that would send Harper to the hospital. We still aren't quite sure why her fevers reached such a high temperature. After many visits to the ER and to specialists, we have strong medicine that we could administer at home to Harper after a seizure. This medicine would quickly quiet her down while reducing the side effects and help her recover more quickly. Once again, we were ready to help our child through this tough time. 

The Seizures Began

Shortly after her second birthday, Harper went to bed with a slight fever. In the middle of the night this fever spiked extremely high causing a severe seizure that went undetected. We woke up to the sight of our little one seizing and we weren't sure for how long. Unfortunately, this seizure did not wake us. The longer a child seizes the longer the recovery period is as well as the possibility of regression. Once again we have reached another challenge. The side effects from this seizure were heart breaking, brief loss of sight, no hand-eye coordination, could not sit or crawl or feed herself. This seizure took our 2 year old that was progressing so well back 18 months. Harper regressed to a 6 month state. For the following six weeks we had diligently worked with Harper to try and achieve the goals she worked so hard on in her first two years of life that were quickly taken away from one serious seizure. We put her on a a seizure medicine that would prevent any seizures in the future. 

Never let a diagnosis define your child. 

Harper was on two different medicines to control her seizures.  Currently, Harper has been seizure free for 3 years and off any medicine for two.  At this time we are currently on the quest for a service dog that would help Harper in her daily life. Thank you for taking the time to read Harper's Story and please continue to visit our website for updates on our beautiful little girl.

The Deletion


The Deletion


5q14.3 

Excerpt from http://www.asociacionmef2c.com/en/que-es-la-microdelecion-5q14-3-mef2c

A 5q14.3 deletion is a rare genetic condition in which a piece is missing from one of the body’s 46 chromosomes. The missing piece can be tiny or much larger but includes important genetic material. This material usually includes all or part of one or more genes that are important for normal development. Sometimes the missing piece does not include part of a gene but consists of material close to one.

 

Currently, this deletion has been reported in fewer than 50 people.
— http://www.asociacionmef2c.com/

Excerpt from https://rarediseases.info.nih.gov/diseases/12166/5q143-microdeletion-syndrome

5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, upslanted palpebral fissures (outside corners of the eyes that point downward), and prominent eyebrows. The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5.

 

Dr. Stuart Lipton is an internationally renowned physician and researcher. Dr. Lipton is currently the director of the laboratory that researches neurodegenerative diseases. In this video, Dr. Lipton explains how the MEF2c gene affects development and how his researchers are developing drugs that could treat this gene mutation.