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Navigating Rare Disease Challenges: How My Rett Ally Became a Mom's Secret Asset

Updated: Jun 25

In the wild ride of parenthood, nothing quite prepares you for the unexpected twists and turns that life throws your way. For Yesenia, her journey took an unforeseen detour when her daughter, Alessandra was diagnosed with Rett Syndrome at 29 months old. What followed was a rollercoaster of emotions, hurdles, but ultimately, a journey illuminated by love, grit, and hope.


"Before Rett Syndrome came knocking, Alessandra was our little ball of sunshine, our joy." Yesenia reminisces. "But then, slowly, it felt like this syndrome started creeping in and stealing bits of her childhood away.  It has been heartbreaking to slowly watch her lose the ability to speak, to be able to play with her favorite toys, to develop difficulties with something as simple as breathing, GI problems, and to think that one day she could possibly lose the ability to walk or develop other medical issues.”

 

"Yet, in the midst of the Rett Syndrome storm, Alessandra has remained a beacon of light. She's still the same goofy, smart, smiley kid she's always been."

 

Mom and Caregiver

“We are grateful for the abilities Alessandra still has -she can still walk, has learned new ways to communicate, including using an eye gaze device, and still has limited use of her hands. These are things we will never take for granted. And we are grateful for the progress and new skills she is gaining.


Alessandra is AMAZING! She brings so much love and joy into our lives and to the lives of anyone who knows her and has the brightest, most contagious smile. She has a love for books and music like no other, works hard in her therapies every day, and is a resilient, strong little girl. She loves to play outside, spend time with family, go to the beach, go swimming, and recently went adaptive skiing for the first time and LOVED it!”


As her mom and caregiver, navigating the maze of Rett Syndrome in a world that often doesn't understand it became a real challenge.


“Being Alessandra’s mom is my greatest honor. She makes everything better and is such a bright light! However, navigating and getting support for Alessandra’s needs is overwhelming and very challenging at times. It’s difficult to access services and to seek medical care when your child is diagnosed with a rare disease.”


What's Rett Syndrome?

“We often encounter service providers who have not ever heard of Rett syndrome, or have very little knowledge and no experience working with kids with her diagnosis. It’s a constant retelling, and educating, and advocating that I have to do to make sure she gets the best and most appropriate care. It's also challenging because there is always something new, a new symptom, a new medication, new goals at school, and for the various therapies she attends."


Rett syndrome is a rare genetic neurological disorder that affects 1 in 10,000 females (and even more rarely in males) and begins to display itself in missed milestones or regression at 6-18 months. Rett syndrome leads to severe impairments, affecting nearly every aspect of life: ability to speak, walk, eat and breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements while awake. Cognitive assessment in children with Rett syndrome is complicated, but we know that they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions.


To learn more about Rett Syndrome visit: https://www.rettsyndrome.org


Alessandra attends, speech, occupational, and physical therapy and sees various specialists, including, neurology, GI, cardiology, rehab medicine, the list goes on. "It is a lot to keep track of, especially when things (and providers) are constantly changing, and it’s challenging to coordinate care between all the people that help care for her. This is one of the most draining aspects of parenting a child with a disability -keeping up with all of this and making sure others are up to date as well." Explains Yesenia


Treatment and Hope

When the first FDA-approved medication for Rett Syndrome hit the scene in June 2023, there was both excitement and nerves. "We were like, 'Yay, progress!' But also, 'Oh man, side effects?" says Yesenia.


"Our doctor approved us to give it a try and asked us to track bowel movements and keep a food diary for 2 weeks prior to starting the medication. We started the medication at half the dose and monitored bowel movements, eating, sleeping, hand use, breathing, and just kept an eye out for other notable changes. After a week we were able to increase to the full dose. It was a pretty stressful time as we had lots to keep track of and had to make some adjustments, while we figured out how it was going to work for her." Explains Yesenia


Keeping tabs on Alessandra's progress during this new treatment became top priority. “The Pharma company sent us a paper journal to help keep track of these things. However, I prefer to have things handy electronically, rather than carrying something around, so I had previously used a word document to track things and my notes app on my phone. This was helpful and convenient, but when it came to messaging the doctor, I always had to reformat my notes for them to make sense and be helpful."


This lead her to discover My Rett Ally, a free resource provided to Rett families by the International Rett Syndrome Foundation. "I needed something to help me keep track of everything without driving myself crazy," she admits. "And let me tell you, this app. It's been a game-changer."


"The apps easy-peasy interface made logging observations a breeze. No more scribbling notes on random bits of paper. And when we'd go in for check-ups, having all the info right there on my phone? Genius!”


"I seriously don't know how we would've managed without My Rett Ally. It's been a real lifesaver."


"My Rett Ally has helped take some stress off my plate by making it easy to track all of the things I needed to track while starting my daughter on a new medication. It made it simple to keep track of any side effects and improvements, and very easy to share important data with her doctors.”


Live. Love. Laugh.

As they continue to navigate the ups and downs of Rett Syndrome, fueled by

love, laughter, and a whole lot of coffee, Yesenia remains thankful for the strides in treatment and handy tools like My Rett Ally that make the journey a little less bumpy. Together, they"ll keep on riding this rollercoaster and cherish each and every day.


In sharing Yesenia and Alessandra’s journey, we are reminded of the power of love, the importance of community, and the incredible impact of innovation in transforming lives. Their story is a beacon of hope for all families navigating the complexities of Rett syndrome, proving that even in the face of adversity, there is always light and possibility.

 

Interested in learning more about the web-based app or creating an account for a Rett warrior in your life? Learn more at rettsyndrome.org/myrettally or visit myrettally.mymejo.com and click on “Let’s Get Started!” to sign-up for free. It just takes a few minutes to get your account created.

 

About mejo

There are more than 300 million people in the world living with a rare disease. More than half are kids with caregivers doing all they can to provide the best life possible for them.


The mejo app was created to help these caregivers with all of their caregiving activities each and every day. Caregivers and families call mejo "a game changer" as it helps them coordinate care, organize their medical + care information and save time by simplifying their lives.


mejo is honored to collaborate with IRSF on a Rett-specific platform called My Rett Ally. For more information on bringing mejo to your community, send us and email at contact@mymejo.com


 

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