The story of Andreea
Elena was born on January 13, 2018 and was diagnosed with a rare syndrome called CHARGE. She is deaf, legally blind, can’t taste or smell, and cannot walk on her own. You can check out her story in this video.
What is CHARGE syndrome?
CHARGE syndrome is a rare genetic disease that affects many areas of the body. CHARGE is an abbreviation for several of the syndrome’s common features:
- Coloboma of the eyes
- Heart defects
- Atresia choanae (also known as choanal atresia)
- Restriction of growth and developmentalÂ
- Genitourinary and gastrointestinal problems
- Ear abnormalities
While some of her disabilities were confirmed from the beginning, they were unable to give us the full spectrum of her diagnosis right away. In the weeks following her birth, many tests were performed and Elena was diagnosed with the following CHARGE related complications:Â
- Vision – Coloboma of the macula. 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.
- Hearing – Outer, Middle and Inner Ear Malformed. 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.
- Taste and Smell – Cranial Nerve Abnormalities. Elena cannot taste or smell due to her cranial nerves being malformed.
In addition to the list above Elena also has:
- Heart defects
- Delayed development (hypoplastic pons)
- Facial nerve damage (facial palsy)
- Breathing difficulties (choanal stenosis)
- Limited ability to walk (missing balance nerves)
- Episodes of severe vomiting (cyclic vomiting syndrome)
- Sleep difficulties
- Teeth-grinding (bruxism)
- Poor muscle tone (hypotonia)
- Intellectual disability
- Swallowing difficulties (cranial nerve abnormalities)
Elena spent most of her first year in hospitals undergoing countless medical interventions, procedures, and surgeries. She was unable to breathe on her own, had difficulty swallowing and underwent surgeries to repair her heart. It was painful for her and harrowing for us, her parents. Thankfully, Elena beat the odds in that first year. She is our miracle!
But Elena’s needs are complex, never-ending, evolving and often overwhelming. Since she is limited with what activities she can do on her own, we take shifts so our girl is always cared for. Elena requires constant supervision and engagement to be stimulated, we feed her every 30 minutes to an hour with specially-prepared food. Even after bedtime, she continues to be monitored as she experiences sleep disturbances and needs comforting throughout the night. The journey alongside Elena has been draining, but interventions are vital at this time. Our biggest fear is that the progress she’s made so far can not only stall, but regress.
Why are we sharing Elena’s story for Rare Disease Day?
Together we are stronger. We firmly believe that by sharing Elena’s story we can:
- Spread awareness about CHARGE syndrome and advocate for its recognition at home and around the world.Â
- Help others that are going through a similar situation by sharing our learnings and building a community around this rare disease.
- Give Elena a chance to hear. Every share brings us closer to someone who can help.
Are you a CHARGE parent? Let’s connect. Follow us on social (#ElenaFosterJourney) and check out our website to follow Elena’s journey https://www.elenafosterjourney.com/.
What does the future look like?
Unfortunately, the future is uncertain, both in terms of hope for Elena but also for anyone else affected by CHARGE. The syndrome is not recognized in Canada or by rare disease organizations at this time. 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. But this will not stop us from trying!