ADCY5 Gene Mutation Support and Research Organization - ADCY5 International Patient Registry
ADCY5 Gene Mutation Patients in the News
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Natiional Geographic Article on ADCY5 Gene Mutation Patient
"We Gained Hope.” The Story of Lilly Grossman’s Genome, Ed Yong, March 11, 2013
The Atlantic Article on ADCY5 Gene Mutation Patient
How Genome Sequencing Creates Communities Around Rare Disorders, Ed Yong, September 21, 2015
LA Times Articles
San Diego Union Tribune Article
The search for what's wrong with Lilly, Gary Robbins, March 19, 2013
Video from The Netherlands
Ouders van Djaro (4) op zoek naar lotgenoten Gepubliceerd: September 29, 2015
Personal Patient Stories
Our mornings are somewhat different to those of anyone else with 3 children. It’s a rush for all of us, we get up, we eat our breakfast and drink our milk, brush our teeth, wash our face and get ready for school, pack our bags and our lunch boxes, get in the car and put our seat belts on so we can go. The only difference is in my family we have to help Francesca to do these simple daily activities.
At the age of 9 we continue to do everything for Francesca, although she has learned to use the remote control perfectly and uses all our internet bandwidth watching YouTube videos! Specialists diagnosed her with low muscle tone like a child with cerebral palsy but they could not confidently diagnose her condition.
She has a normal MRI brain scan which means she has no brain damage. She also twitches like a person with Chorea (a disease of the nervous system characterized by jerky involuntary movements).
I first noticed Francesca’s condition when she was around 4 months old. She was kind of, I guess floppy, is the best way to describe it. She wasn’t like my two other children at the same age. It was such a shock realizing something is wrong with your beautiful new baby girl. Suddenly I felt as if all my hopes and dreams for Francesca had gone out the window, I was shattered.
We became conscious of the fact that things weren’t improving and that Francesca may not grow up the same way as my other children when she was 19 months.
I remember one day when my son Stefano was 9, he asked me “Mum, when is Francesca going to walk?” I couldn’t tell him the truth and just answered “one day”, hoping that would come true!
Our neurosurgeon told us that if Francesca could sit by herself by the age of 2, she would have a chance at walking. By the age of 2 she could sit unaided, still to this day we are extremely hopeful that one day our little angel will take her first steps.
Over the years Francesca has faced many obstacles and has overcome each one. She has worked hard with her exercises, she has had many treatments, and she has benefited from the faith we have in her and the faith of all who constantly pray for her.
Even though Francesca is wheelchair bound for much of the day, she knows she is an average child that wants to do lots of things. An example of her determination and hope is when she demanded that we buy her a skipping rope and then made her grandparents grab each end while her brother held her so they could jump together.
Francesca attends our local Catholic school with the help of a care assistant and technology. She is doing well.
Francesca has been tested for so many syndromes, over the last 9 years all with negative and inconclusive results.
About 4 years ago her specialist suggested we do a genome sequencing test, but not to expect results very quickly. The biggest challenge for the medical team was interpreting the information. Humans all have 30,000 genes and each gene is composed of 100,000 pieces of information. Trying to find a genetic mutation in this information was a challenging process.
Finally, in March of 2015 she was diagnosed with mutation in the ADCY5 gene.
This is a recently discovered gene mutation and the reports so far show that this is a movement disorder gene usually with early onset Chorea and dystonia.
Although raising a child with a disability is hard and emotionally draining, we are optimistic for a brighter future for Francesca and are happy to find others who share our journey.
Mimi was born a healthy baby, with excellent APGAR scores. As she was our third, we thought we knew what to expect, but Mimi didn’t turn out to be like our others. She was a sad, clingy baby but we assumed that was just a variance on normal babyhood. By 7 months, we were noticing these extraneous movements that seemed in the words of her aunt “like she had these cute little wiggles.” Her pediatrician told us she would out grow whatever it was. Fast forward… Mimi was delayed in all her milestones; sitting up, crawling, talking. I finally talked my reluctant pediatrician into a referral to a neurologist and we were off on our quest.
Thinking of how we were lost in the dark abyss the first few years still is emotional for us. We were bounced around the system for what seemed like forever—psychologists (erroneous PDD-NOS diagnosis); three neurologists and countless pediatrician visits for various skin allergies, ear infections and more, we finally settled on a working diagnosis—cerebral palsy. None of her doctors could reach consensus as there was no injuries in her brain to explain her now-expanding movement disorder. But, we took the diagnosis so we could get services for Mimi to enable a more fruitful life
We were determined to raise Mimi as we did our other children. With the same expectations for a fine character, hard work, and contributions to society as our other children. Mimi attends public school with an aide; she is able to fully participate in all her classes and has an active social life and after school interests. We also have an intensive IEP that consumes a lot of effort on our part to update and maintain along with a payroll worth of therapists and tutors we have to support Mimi. But, we wouldn’t change anything.
One of the most important thins we learned along the way is the importance of building community. We have opened our hearts and our lives to friends who in turn have given us support, guidance and love. Mimi is a welcome member of our community and we couldn’t ask for more as we continue to navigate what is next for her in her challenging and exciting life.
Lilly; at 19 years old, is a voracious reader, and a blossoming writer. Her favorite TV show is Glee, and she loves all things pink. She manages her own website and has already self-published two books, titled: The Girl They Thought They Never Knew and the sequel, The Girl They Always Knew. It comes as no surprise that Lilly’s favorite subject in school is English. Her other successes, beyond writing, include receiving her Girl Scouts of America Gold Award for implementing a safety evacuation plan for disabled students and injured people. She also received honorable mention in the White House’s Inaugural student film festival for her submission on her own use of technology in daily life and school. For six years, she was an active member of National Charity League Inc., a volunteer organization focused on strengthening mother/daughter relationships while volunteering in the city of San Diego. Despite her impressive accomplishments, she is just like most other teenagers in that she enjoys texting and joking around with her friends. Lilly has just started her freshman year in college.
While this homecoming queen’s bright personality and extensive resume will only continue to flourish, Lilly and her family have already faced a number of significant challenges. When Lilly was 18 months old, her parents noticed she had a small tremor. While seemingly harmless at first, the tremor progressed into full-body muscle spams, which were painful enough to keep Lilly (and her parents) up night after night, trying to cope. As Lilly has grown, balance and coordination has become increasingly difficult. To improve her mobility, Lilly now uses a motorized wheelchair to get around. She relies on technology to fully participate in school and other activities.
Lilly and her parents sought answers for the cause of her condition to no avail for over 15 years. She encountered numerous false diagnoses, including Cerebral Palsy and mitochondrial disease. For 15 years, Lilly underwent innumerable tests and doctors’ visits, but answers remained elusive and the future was still uncertain. It was only through a special type of DNA testing, called genetic sequencing, that Lilly’s mystery illness was finally given a name. In the summer of 2012, sequencing revealed that Lilly has mutations in the adenylate cyclase 5 (ADCY5) and the dedicator of cytokinesis 3 (DOCK 3) genes. These rare genetic mutations affect Lilly’s strength, resulting in involuntary tremors and compromised coordination.
For Lilly and her parents, the diagnosis brought many mixed emotions. While the family now has a name for Lilly’s condition and a chance to find others like her, a rare disease diagnosis means that the next steps for treatment and care are an even bigger unsolved mystery. As Lilly’s physician, Dr. Jennifer Friedman noted, “Pinpointing the genes causing Lilly’s illness is only the beginning of the journey.”
We welcomed our first child, Maya, into the world in February 2013. She was strong, happy, healthy and ‘typical’ in every way at birth. Our first gut feeling that something might be off was around 4 or 5 months, when it seemed the developmental gap between Maya’s gross motor abilities compared to that of her peers began to grow. At our 6-month well-baby visit, our GP reassured us that babies all develop at a different pace, and that Maya was just a late bloomer.
When it became clear that Maya wouldn’t be sitting independently by eight months, we self-referred to the local early intervention program, and insisted our GP refer us to a paediatrician. It was then that we first heard of hypotonia (low muscle tone).
Only a few weeks later, just before Maya was 10 months old, we began to notice random abnormal movements. After a particularly bad day, we decided to take Maya to the Children’s Hospital ER for an assessment, where we first saw a neurologist. From here, the battery of tests began – an EEG, EKG, MRI, lumbar puncture, and countless blood tests, all of which came back normal. Finally, our medical team got approval for Whole Exome Sequencing, from which we received a diagnosis in March 2015 - a de novo genetic mutation in the ADCY5 gene.
Receiving a diagnosis has allowed us to connect with the small, but strong, community around ADCY5, and have a better sense of where to focus our efforts.
Maya will be turning 3 very soon, and has come a very long way with the help of intensive physical, speech and occupational therapy. She’s learned how to sit, crawl, pull to stand, cruise, and we are now working towards independent standing and walking. Her expressive speech has blossomed in the last few months, and although Maya is still difficult to understand, her vocabulary is growing and she is able to express herself with increasing proficiency.
Despite the physical challenges that come along with ADCY5-related Dyskinesia, Maya is a very bright, social and happy girl. She loves horses, and has a great sense of humour. Above all, she is determined to succeed at every opportunity. We are extremely proud of Maya and all that she has already achieved. Although we don’t know what the future holds, we are confident Maya will go on to do great things. In the meantime, we continue to search for treatments and a cure.
Email: info@ADCY5.ORG +1.858.882.7280
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