Love, Hope, and Support for Aria

This past summer, our family received heartbreaking news. Our beautiful niece & granddaughter, Aria, was diagnosed with Angelman Syndrome. We are asking for your prayers and support for Melissa, Scott, and Aria as we share their story, and the unexpected journey life has taken them on.

Melissa and Scott were married in 2018, began a new life in North Carolina in 2019 and not long thereafter, in June 2020, gave birth to their beautiful daughter Aria. As the weeks and months passed, there was growing concern that Aria was not meeting her milestones. Initially, doctors diagnosed her with low muscle tone, and she began attending weekly physical therapy visits. However, as Aria grew to two years old, their concerns intensified. Aria was showing severe developmental delays and her doctors had no answers then referring them to a geneticist for extensive testing. On July 8, 2022, just after Aria’s 2nd birthday, they received the devastating news that Aria was diagnosed with Angelman Syndrome (AS), a condition that will profoundly affect her for life. Sadly, from the moment they received the diagnosis, life has never been the same.

Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother.

Angelman syndrome shares symptoms and characteristics with other disorders including autism, cerebral palsy, and Prader-Willi syndrome. Due to the common characteristics, misdiagnosis occurs often.

People with Angelman syndrome have developmental difficulties that become noticeable by the age of 6 – 12 months. Other common signs and symptoms usually appear in early childhood like walking and balance disorders, gastrointestinal issues, seizures and little to no speech. Despite these symptoms, children, and adults with Angelman Syndrome, (aka “angels” - a term reserved for children diagnosed), have an overall happy and excitable demeanor.

There are 4 ways that Angelman syndrome can occur. These are called genotypes. Each genotype has a different mechanism that results in AS. Aria has a mutation in the 15th chromosome altering the function of her UBE3A gene. This genotype is maternally inherited and has a 50% risk of recurrence. Her symptoms include developmental delays, a walking and balance disorder, gastrointestinal issues, and no cognizable speech. As a result of her condition, Aria has to work harder than the average toddler. She attends daily therapy sessions that challenge her to overcome these obstacles and teaches her to improve her motor, cognitive, emotional, and speech skills through one-on-one training with her amazing therapists. She did not ask for this genetic disorder, nor does she deserve it. Nonetheless, Aria gets up every day and faces her obstacles with courage and determination. Everyone who has met our beautiful Angel knows how infectious her smile is. She is extremely smart, has an incredible sense of humor, is very loving, gives the best hugs and brings so much happiness to everyone she meets!

We, together as a family, have decided to join other families in helping find a cure for Angelman Syndrome. Currently, there are several human clinical trials taking place all over the world, and the data that has been shared publicly has given us so much hope! Recently, Aria was added to the wait list for a clinical trial with promising results. Although there is no certainty we will get into a trial, that does not stop our determination to fight for a cure no matter what it takes. Evidence of just how important these trials are, one participant in an Australian trial, who was completely non-verbal, has begun saying a few words within a remarkably short period of time. For a child as young as Aria, it is critical she gets the opportunity to be part of this life-changing trial as early as possible so that our family can work towards giving her the best life she deserves.

It has been a tough year for Scott, Melissa, and Aria. Since the diagnosis, they have spent sleepless nights trying to process, learn and understand this rare diagnosis. They have met with a team of doctors and therapists to provide Aria with the best treatment possible. Recently, they were blindsided by the news that Aria, most likely, will not be entitled to claim SSDI nor do they qualify for Medicaid, so their financial struggle continues. No family faced with a disability should ever suffer financially and though insurance is complicated, they continue to fight to get the littlest things covered.

While we all can help Scott & Melissa by participating in the Angelman’s walks to support the cause, I hoped we could help them personally in their mission to provide the best life for Aria. Our goal is to raise $50,000 in the hopes of giving them some financial stability for the months and years to come. The money we raise will go towards past, present, and future medical and therapy bills, new AFO’s, an AAC device, special needs bed, in-home therapy equipment, attorney fees, and unexpected expenses, just to name a few.

We do not enjoy soliciting strangers, family, and friends for donations. But after months of accumulating bills and loss of wages etc, we have made the difficult decision to reach out for financial support. We have come to the realization that sometimes you just have to act no matter how uncomfortable it makes you feel. But most importantly, this will show Melissa and Scott how much love and support there is out there for them and this lifelong battle they are faced with.

Thank you all for considering a donation. Regardless of whether you contribute, just know that we love and appreciate you keeping Aria in your thoughts and prayers. As a parent, there are no words to express the emotional, physical, and financial stress a neurogenetic diagnosis puts you and your child through. Please help us reach our goal and raise awareness for Angelman Syndrome! We realize we are not alone in our struggle with Angelman Syndrome, and there are families all over the world needing help. Whether it be financial or sharing the link, we are grateful for all the support.

Kathy Girten, Carrie Bruno, & Tim Girten (Mother, sister, and brother of Melissa)

Related reading regarding the high cost of raising a child with Angelman Syndrome: https://angelmansyndromenews.com/news/australian-study-high-cost-angelman-related-conditions/

To learn more about Angelman Syndrome and other ways to help please visit the Angelman Syndrome Foundation website: https://www.angelman.org/