Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association. American Journal of Medical Genetics, 99, 124–127.Īrrington, C. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.
#CHARGE SYNDROME MEANING FULL#
As a result, it is extremely challenging, and at times downright impossible, to get the right medical and developmental interventions, along with the necessary support to help Elena reach her full potential and provide her with a better quality of life.Amiel, J., Attié-Bitach, T., Marianowski, R., et al. The syndrome is not recognized in Canada or by rare disease organizations at this time.
Unfortunately, the future is uncertain, both in terms of hope for Elena but also for anyone else affected by CHARGE. Follow us on social (#ElenaFosterJourney) and check out our website to follow Elena’s journey. Every share brings us closer to someone who can help.Īre you a CHARGE parent? Let’s connect. Help others that are going through a similar situation by sharing our learnings and building a community around this rare disease.Spread awareness about CHARGE syndrome and advocate for its recognition at home and around the world.We firmly believe that by sharing Elena’s story we can: Why are we sharing Elena’s story for Rare Disease Day? Our biggest fear is that the progress she’s made so far can not only stall, but regress. The journey alongside Elena has been draining, but interventions are vital at this time. Even after bedtime, she continues to be monitored as she experiences sleep disturbances and needs comforting throughout the night. Elena requires constant supervision and engagement to be stimulated, we feed her every 30 minutes to an hour with specially-prepared food. Since she is limited with what activities she can do on her own, we take shifts so our girl is always cared for. She is our miracle!īut Elena’s needs are complex, never-ending, evolving and often overwhelming. Thankfully, Elena beat the odds in that first year. It was painful for her and harrowing for us, her parents. She was unable to breathe on her own, had difficulty swallowing and underwent surgeries to repair her heart. Swallowing difficulties (cranial nerve abnormalities)Įlena spent most of her first year in hospitals undergoing countless medical interventions, procedures, and surgeries.Episodes of severe vomiting (cyclic vomiting syndrome).Limited ability to walk (missing balance nerves).Breathing difficulties (choanal stenosis).In addition to the list above Elena also has: Elena cannot taste or smell due to her cranial nerves being malformed. Taste and Smell – Cranial Nerve Abnormalities.Elena is profoundly deaf, meaning she can hear nothing at all, and has difficulties balancing and walking independently due to her malformed cochlea and nerve anomalies. Hearing – Outer, Middle and Inner Ear Malformed.Elena is legally blind, with limited peripheral vision, large blind spots and no central vision, meaning she cannot make eye contact or understand and recognize faces. In the weeks following her birth, many tests were performed and Elena was diagnosed with the following CHARGE related complications:
While some of her disabilities were confirmed from the beginning, they were unable to give us the full spectrum of her diagnosis right away.
Restriction of growth and developmental.Atresia choanae (also known as choanal atresia).CHARGE is an abbreviation for several of the syndrome’s common features: You can check out her story in this video.ĬHARGE syndrome is a rare genetic disease that affects many areas of the body. She is deaf, legally blind, can’t taste or smell, and cannot walk on her own. Elena was born on Januand was diagnosed with a rare syndrome called CHARGE.
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