Motherly instincts, intuition, whatever you want to call it— as mothers we know when something isn’t right, and we will persist until we have an answer. At the beginning, autism was a roadblock for our child, yet it opened another door which lead to another path.
My middle child Alexi (one of three beautiful children I was blessed with) just seemed different at birth. I remember that her cry being weak as an infant. She also had a striking silver steak of hair that just seemed odd. I felt how fragile she must be by her very weak her grasp as a baby was when I took her hand. There was a heart-wrenching feeling deep inside my gut telling me something was different. And, like all babies, I was mesmerized by her sweet little feet – so tiny. But, as I sat rocking her in her nursery an overwhelming feeling came over me and I can still remember that day. Although the genetics team at the hospital suspected something, after multiple visits they gave her a ‘pass’ at one-year-old. Our journey could have ended there, but I knew they were buying time and waiting to see. In the meantime, the angel that was in my arms was perfect to me, even if something in the back of my mind just didn’t feel right.
Little did I know that nine years later, after surviving a grueling genetic journey her diagnosis would finally be found, and her little feet would become the similar trait shared by the other children with her rare, neuro-genetic syndrome.
ADNP Syndrome. Four letters. What did it mean? Active. Neuro. Protective. Protein. It is the gene that is responsible for neurogenesis. Without this gene, the brain would not be possible. Never did we imagine she would have a genetic mutation of a major brain development gene!
Imagine how scary this must have been after being told as parents for years that the ideology of her condition was simply “low functioning autism.” Many clinicians seemed so sure of the diagnosis. On the other hand, they were also perplexed by her sleep disorder that lasted over five years, and extreme breathing episodes for her first years of life, some of which landed her in ambulatory care and transports to children’s hospitals in Chicago where we lived. So many things were simply not right and she struggled more than just in terms of the delayed milestones.
Ultimately, Alexi was not their child, she was their patient, and there was never enough time for her specialty teams to dig deeper. Alexi’s physicians were at multiple centers as we sought the best care for each specialty, no matter if they were at the same facility or another state.
My child is ultra-rare.
Most children with rare diseases average 8.5 years until a primary diagnosis is found. This was the EXACT number of years it took for our precious baby girl to be diagnosed, and now we share our story to inspire others as well as advocate for insurance to cover more sophisticated and advanced genetic testing for undiagnosed children. We support genome testing to help unlock the key to diagnosis with regards to diseases that are causing medical complexities for so many children that clinicians, educators, and therapists are unsure how to treat because they don’t understand the cause of the condition.
For us, a diagnosis was the only way to navigate the complicated US medical system. With Alexi, I knew there was something else, so my motherly instincts didn’t relent. We left home and traveled to The Mayo Clinic Developmental Center in Rochester, MN, where a team of developmental doctors performed and retested her under the golden standard testing for autism (ADOS). Indeed, my perfect toddler did score for autism but thankfully a multi-disciplinary medical specialty team (including Neurology and Genetics) validated our years of concern as parents.
They explained that it was highly likely that Alexi had a rare, genetic syndrome, given they could not match her condition to any of the thousands existing genetic conditions their database. They also explained that she resembled close to 300 different known syndromes. They said there was most likely a genetic cause for her receptive/expressive severe language delays. Upon physical exam performed by genetics they found some very specific anomalies/features that were overlooked on previous genetic work-ups at other children’s hospitals we had taken Alexi to. So we proceeded with a skin DNA as a final hope for diagnosis, it being one of the best tests out there in 2008.
Unfortunately, after waiting a few weeks (which feels like a year to a parent), the best test was unable to pick up her rare brain gene mutation. So we started on a new journey of acceptance, the journey of “we tried to get Alexi diagnosed – we tried all things possible, and now we will accept this unknown genetic syndrome.” The study of the chromosomes was not thorough enough. The Genetic testing that was on the horizon back then, now known as Genome sequencing, was what lead to hope for our family!
Despite feeling defeated, we continued to persist. We looked back at the laundry list of syndromes she was tested or considered for – Angelman Syndrome, Rhett Syndrome, and Prader-Willi Syndrome – we decided the money we were spending instead had to go toward rehabilitation. We had to worry less about what was causing her challenges. Then, in 2014, our lives were changed forever.
My child was loving and happy, and by 2014 she was getting older and more independent in many ways. She was also extremely frustrated. Behavior became “her communication” as a non-verbal child. We felt she was having a troubled year because she could not communicate her basic wants and needs even through her use of limited sign language, high-tech communication/voice system, and a picture exchange system.
Out of desperation we headed back to Genetics, hoping for one last look or hope for advanced testing to be available. Could someone possibly diagnosis Alexi after 8.5 years?
In this same year, we began to notice growth issues as she began falling off the charts. Alexi was three levels deviated in height for her age and we flew her to see one of the few pediatric neuro-endocrine specialists in the US, who was at Boston’s Mass General. We began to discuss the past years, options to forgo, and the possibility of proceeding with growth hormone shots. Despite years of aggressive OT, PT, and speech therapies, she was not making gains in language or developing verbal speech. She was losing sounds she once had or over generalizing sounds that she learned.
Alexi also suffered from a neuro-motor issue that caused her rehab therapy to average about ten hours a week, with the majority of those hours focusing on PT – both on land and in the water. She learned to build endurance as well as motor planning gains. All her days from ages one year to five years she spent in therapies. Despite the multitude of therapies, Alexi was still unable to bear weight on her legs at the age of 2.5, reflecting a severe delay. We worried about atrophy, and had to carry our almost 3 year old daughter everywhere, refusing to put her in wheelchair – refusing to give up hope of her walking.
I knew autism was not the only reason for the journey we were experiencing. Alexi had severe mobility issues, and we had to do painful muscle stretching day and night to prevent her leg muscles from tightening and causing her pain. As she gained mobility these issues subsided.
Alexi was able to ride the pediatric walker and orthotic braces, finally taking her first uncoordinated steps at age 3.5, when new neuro pathways were tapped into. The day she took her first steps looked like a miracle – unsteady and much like someone who suffered a stroke, BUT she walked!
This neuro pathway led to basic mobility for our child. Despite not knowing her diagnosis at the time (we do now), we have committed to helping younger children and families with ADNP mutations, and who will journey the same path. We work to create protocols in place for the children who have this syndrome and suffer severe neuro-movement disorders like Alexi, children that were misdiagnosed as merely having symptom of developmental delay.
The years that followed Alexi’s first steps were tedious uphill battles to help her achieve “functional” walking that most of us take for granted. Reciprocating up and down stairs, despite much work at therapy and practice over the years, is still a challenge for her. But we are grateful as parents to be able to watch her approximate running as our happy, eleven year old girl! Alexi still is unable to jump and still walks with what neurologists define as an “ataxic-like” gait, but we are thankful for what we feel was miracle healing.
In all the years we searched for a diagnosis and all the medical centers we visited we never saw a child that resembled our daughter – not the symptoms nor features. Imagine our shock when in 2014 she was finally diagnosed. We are told she is one of the first children in the US diagnosed, and she is ONE of only TEN other children in the WORLD, with only one vague medical publication existing about the genetic discovery.
As my husband and I sat at a table with a wonderful diagnostic doctor, a nurse, and a social worker, we realized it was this doctor, this man, who pushed and persisted, further listening to my motherly instincts. With our consent he sent my husband’s and Alexi’s blood to California for genome sequencing. He was the one who delivered the news we had hoped for over the past nine, long years. FINALLY a diagnosis!
We thank Ambry Genetics for being such a compassionate company who quickly identified how rare the condition was after finding it through their testing. The process was smooth.
Shortly after initial shock wore off I connected on social media with the label “ADNP Parent Group”, and another Mom found me! She had a little boy affected. He too remained undiagnosed for close to 6 years and like me, it was a Mother’s intuition and research that kept her going!
After speaking with her on the phone about her son, I knew in those moments that we were headed on another journey. And now three years later we continue to see more children diagnosed with this syndrome and we realize that this neuro-syndrome does not discriminate. Girls and boys are equally affected.
This mom, who lives on the opposite side of the US from me, became Founder and President of the newly-formed Foundation, and I became Vice President. Now with only 33 other US families, we are still a very small group. There are just over 100 families worldwide, which qualifies us as an orphan disease. We are hoping to raise funds for continuing research, discovery, and development of therapeutics for our children. We also have clinical trials that are starting after a few short years. We have developed an amazing board comprised of moms throughout the country. And most importantly, we are NO LONGER ALONE.
We are grateful for Global Genes and our alliance with them. We attended our first RARE Patient Advocacy Summit last year in California as six moms of ADNP children across the US, meeting for the first time! The break-out sessions and speakers from all medical and scientific backgrounds got us quickly focused on how we needed to organize ourselves as a group. We quickly realized that we no longer just parent advocates. We had just joined a new club with greater purpose: Rare Disease Advocates.
The Global Genes RARE Patient Advocacy Summit helped us get our feet off the ground, and understand what it means to be part of the Rare Disease Community in the US. We listened to stories of groups that were at one time just like us, newly diagnosed, and we felt compassion as we heard other families talk about how they or their child was yet to be diagnosed. Our immediate response was that if there were more ADNP children out there, we must not wait for a US registry that doesn’t exist. We must find them! The fear of families living in isolation knowing that their child is not well, with no one able to identify the condition drove me to become involved. It drove me to ask questions of our parent families, and with another amazing mom, we began to collect data about our children. The similarities between our children were surreal.
While in California, as the days went on, we began to see own our responsibility, which was to advocate and spread awareness. The plans began to unfold as to what and how to get started in building a new foundation of a newly-discovered disease. Most importantly, Global Genes provided us a medical home per-sé, providing us with resources and educating us, and providing contacts and valuable information in only a few short days. This helped us move forward and keep us inspired – not in fear, but in confidence that we will make great things happen for our children.
After Alexi was diagnosed I contacted the Israeli neuro-scientist who discovered the ADNP gene more than fifteen years ago. Sandra, our Founder, invited her to our parent group on Facebook and she began collaborating with us, showing the value and miracle of parent-science collaboration. As parents we suddenly felt protected by the person who identified the defective gene in our children. The gene that stopped protein to our children’s brains.
It was the defining moment of understanding that autism and developmental delay were merely symptoms and secondary outcomes/diagnosis of something much larger, a monster that needed to be put down. But we needed to learn as much as we can about it so that the lost years of intervention could be recovered.
What we found from our parent data was that many of these ADNP kids had lots and lots of therapy – frequently years of therapy – but certain demographic areas (since our Founder created a map of the world with all the children’s locations) were afforded better, more specialized interventions, specifically, those that make the difference, evidence-based and non-evidence based therapies that we were all ready to try with the hope of a better quality of life for our kids.
Sandra and I, along with our amazing board of moms (Abby, Genie, Lenore, Lili, and Penny) began to move forward. It is possible with information to have the will to explore and uncover things together for HOPE for our children.
We honored Dr. Illana Gozes with the “RARE Champion of Hope International Science” award last year at the Global Gene’s Community Nominated Awards, where I was able to personally present her with the beautiful crystal award that showed our appreciation for all she has done – working with us, developing a therapeutic, and getting clinical trials off the ground for our kids, despite the small number of children diagnosed. We were so thrilled she traveled all the way from Israel to the US to accept her most deserving award! We were and continue to be so blessed!
Many years ago a compassionate doctor said to me “a mother’s instinct is better than ten interns combined.” I agreed, and followed my heart and my instincts with the thought that something underlying must be preventing my child from walking and talking, despite her amazing will and hard work.
In the end, this is my advice for other families whose children are newly facing a rare or undiagnosed disease:
Don’t give up hope …
Keep searching …
Keep believing …
For those who believe …God offers a purpose, and hope for the future.
For all the clinicians that said “Alexi just has developmental delay – end of story”- they were wrong. It wasn’t the end of her story. It’s not the end of any child’s story.
The diagnosis did matter!
Like all else in life, it’s in collaboration that things begin to work. Together we have support, together we advocate, together we move forward. We found “our tribe” and we will love them hard.
Please visit us at http://www.adnpkids.com/
Written by Alexi’s Mom, Angela Downing