GNAO1 Stories

Annabelle’s Story – Annabelle’s Amazing Graces

Written by: Annabelle’s Mom Shelley

Annabelle was born on November 6, 2015 a healthy, beautiful girl. She was developing appropriately until about 6 months of age; at this time we noticed she was missing developmental milestones. We voiced our concerns with the pediatrician and, at 9 months of age, she was referred to a neurologist. She wasn’t sitting, crawling, or babbling much. We were told it was benign hypotonia. At her first neurologist appointment, she was referred for physical therapy and several labs were ordered. In August of 2016, Annabelle began physical therapy weekly. Her blood work for SMA came back negative and her other labs came back normal. We followed up with her neurologist in November, who ordered an MRI and more blood work. Her MRI came back relatively normal for her age (12months) and her blood work came back normal.

In January, I became pregnant with Annabelle’s little brother. Daniel and I decided to have genetic testing done on the baby, since we weren’t sure what was going on with Annabelle. At my prenatal genetic appointment, the counselor recommended we meet with a genetics physician for Annabelle. We followed up with her neurologist every 3 months and she continued to run blood work on Annabelle; all the tests were negative at this point. Her genetics physician ordered the TRIO WES test for Annabelle, Daniel, and myself. After fighting with insurance to approve the test, we finally had our blood work drawn. We were told the test takes about 8-12 weeks for results; however, I received a phone call with results at about 4 weeks.

I was 35 weeks pregnant and driving Annabelle to therapy when I received the call from Annabelle’s genetics counselor with the WES results. The counselor told me that they have found the source for Annabelle’s developmental delays.  She proceeded to tell me that Annabelle had a GNAO1 mutation, and there were only 8 reported cases in the world, all females, and the oldest was 18 years old. The only question I asked was ‘what is her life expectancy?’ The genetics counselor couldn’t answer that question for me. I hung up with her and immediately called my husband hysterically crying. I couldn’t lose this beautiful, sweet little girl. That night Daniel and I searched the internet for anything we could find about GNAO1 mutation. We were surprised to find there are 50 children in the world with her mutation, boys and girls. We connected with families through a Facebook group and email. We met with Annabelle’s neurologist that Monday. Since the mutation is so rare, she didn’t know much about it. That week we also met with her geneticist. He was also not very knowledgeable about GNAO1.

We have continued to connect with families through social media, and have received much more information about Annabelle’s diagnosis. There are about 100 children diagnosed with a GNAO1 mutation; there is a broad spectrum of symptoms, depending on the variant. Some variants are known to cause seizures, and some cause movement disorders. Every child diagnosed seems to have some sort of developmental delay. There is currently no cure for this GNAO1 mutation, but our goal is to change that through fundraising to give money to research to try to cure her. Annabelle currently attends physical therapy three times a week, occupational therapy twice a week, and speech therapy twice a week; totaling seven therapies a week. Therapy seems to be Annabelle’s only treatment at this time. She does have hypotonia; she isn’t talking or walking independently, but she is the hardest working little girl! She has made incredible progress and we pray that continues. Annabelle can now scoot and crawl around the entire house, getting to where she wants. She can get into a sitting position from lying down, she can pull herself up to stand, she is walking beautifully in her walker, she can feed herself, and she is beginning to ‘talk’ more. Annabelle is such a happy, beautiful, sweet, and funny little girl. She is one of the biggest blessings in our life and we are blessed that God has entrusted us to be her parents.

2018 Year In Review

Dear friends,

Thank you for your past support of the Bow Foundation. The Foundation was established in 2017 with the mission of supporting GNAO1 families, funding research and raising awareness. Since inception, the Foundation has raised more than $250,000 in private funds from donors like you. This letter is intended to summarize how we are investing the Foundation’s resources and highlight upcoming opportunities. Please don’t hesitate to reach out if you have additional questions.

University of Virginia iPSC Project
The Foundation funded an initial research project in the Fall of 2017 with a $100,000 grant to the University of Virginia. Led by Dr. Michael McConnell, the Induced Pluripotent Stem Cell (iPSCs) project converts skin cells into neurons so that doctors can better understand how GNAO1 cells respond to different treatment options. The $100,000 grant has been fully funded and research is well underway.

Michigan State University Mouse Model Project
The Bow Foundation approved its second major research grant this past summer when it agreed to fund two additional mouse models in Dr. Richard Neubig’s lab at Michigan State University. The Foundation awarded Dr. Neubig a $48,000 grant to fund one movement disorder mutation model, and one epilepsy mutation model. Through the study, researchers will gather more information about GNAO1, test existing drugs, and identify possible new treatment options. The Bow Foundation funded the initial portion of Dr. Neubig’s grant this Fall and will fully fund this project in 2019.

American Epilepsy Society Partnership
The Bow Foundation has partnered with the American Epilepsy Society (AES) to support early career funding for a grant specifically targeting GNAO1 related projects. These grant opportunities range from $30,000-$50,000 with the Bow Foundation funding 10-15 percent of the grant’s value. The Bow Foundation has earmarked funds for this future grant.

Patient Registry
In addition to the research grants, the Bow Foundation also reached a major milestone in 2018 by establishing the GNAO1 International Registry. The Registry allows doctors to collect data to continue to learn and study GNAO1-related neurodevelopmental gene mutations. Over 50 families have currently signed up for the registry and almost 40 have completed the initial survey questions. We will continue our recruitment efforts so this number will continue to grow in 2019.

GNAO1 Patient & Family Conference
As we turn to 2019, we are focused on holding the first-ever GNAO1 research clinic and the second GNAO1 medical conference. This joint event will be hosted at Washington University in St. Louis in March. Led by Dr. Amy Viehover, the two-day clinic will allow families to bring their children to be evaluated by a research team and specialist at no cost to the families. On Saturday during the conference, presentations will be made by Dr. McConnell, Dr. Neubig, and other lead researchers and clinicians focusing on GNAO1- related neurodevelopmental gene mutations. The conference will provide an opportunity for GNA01 families from across the globe to participate in research, learn from leading experts and connect with others who have a loved one with GNAO1.

2019 Outlook
We are overwhelmed by the support of all the donors and families since we started the Bow Foundation in 2017. We are proud of the accomplishments we have made over the last 18 months as we work to build a better tomorrow for patients with a GNAO1-related disorder.

We are optimistic that the Foundation will receive additional grant requests for research projects to study GNAO1. However, the continued funding of Dr. Neubig’s grant, coupled with the AES partnership and the March GNAO1 conference will exhaust most of the Foundation’s funds.

The only way we can continue making a difference in the lives of GNAO1 families is through the support of donors like you. Please consider an additional donation to the Bow Foundation in 2019 as we continue our work as a leading advocate for GNAO1 research and awareness. No amount is too small, and every donation helps us make a difference. You can donate by visiting our donate page, or by mailing a check to the Bow Foundation at P.O Box 5612, Charlottesville, VA 22905.

Thank you again for your past support of our mission. We’re looking forward to a big year in 2019, and know that none of this would be possible without support from people like you.

Thank you for believing in our mission!

Sincerely,

The Bow Foundation Team

Governing Board
Emily Bell
Alice Fox
Co-chairs

Duke Fox
Treasurer

Stephen Bell
Secretary

Emily S.’s Story – This is our Emily

Emily S.Written by: Tina, Emily’s Mom

Emily is a sweet and determined seventeen-year-old girl, who has a passion for life and all it has to offer.  However, Emily had a rough start to her life having delayed milestones and medical setbacks.  She was in and out of hospitals the first five years of her life, she had pneumonia several times due to swallowing issues, asthma attacks, and high fevers.  Her symptoms and development often puzzled her doctors.  They have misdiagnosed her with cerebral palsy, dystonia and Parkinson’s based on her symptoms, but I never felt at peace with these diagnoses.  Finally, after participating in the Undiagnosed Disease Network at Massachusetts General Hospital in April 2017, we finally had a diagnosis of Epileptic Encephalopathy GNAO1.  However, at this time Emily has not experienced any Epileptic seizures unlike some of the other patients.

Although it is comforting now having a diagnosis and families to reach out to and use as resources, we still struggle with what to do next.  Emily’s future is so uncertain and scary. We pray every day for more research and the knowledge to make the best decisions for Emily.  We are currently awaiting a service dog for her to provide her with comfort, confidence and companionship.  She can’t wait to add her dog to our family.

This is our Emily!

Harlie’s Story – An artist and so much more

Written by: Harlie’s Mom Tori

Hello!  This is Harlie Morgan.  She is 6 years old and has a rare de novo genetic mutation that has caused a string of medical issues.  It is so rare (around 50 kids worldwide) that it doesn’t have a fancy name yet and is just called a “GNAO1 mutation.”  This mutation causes Early Infantile Epileptic Encephalophy (EIEE17) which is the worst kind of epilepsy.  Harlie is a fighter.  It has left her developmentally delayed in all areas and completely non-verbal (she laughs and cries but no words) as well as facing severe physical challenges, but we continue to fight and pray for a cure. I find comfort in researching and learning all about Harlie’s diagnosis, so I wanted to briefly share a little about Harlie in hopes of helping others.

Harlie loves to laugh! She lights up the room with her excitement and it’s hard not to fall in love with her!  Harlie loves all things Disney – Frozen, Moana, and Minnie Mouse being her absolute favorites. Swimming is Harlie’s favorite extra-curricular activity which we assume is because she actually feels free in the water. She participates in weekly indoor aquatics therapy in a heated pool, which she loves. She would swim in that pool every day if she had her choice! Harlie also loves her Kansas City Royals! She will cry if you turn away from the game and will yell at you if you stand in front of the TV when the game is on, something her 4-year-old brother Marshall has finally learned! Her favorite Royal is the announcer, Rex Hudler.  I think she associates Hud’s voice with the Royals playing and gets SO excited. Harlie is also quite the artist.  She loves to paint and has entered several worldwide art competitions.  She loves making new friends but gets a little anxious when people invade her personal space, but who doesn’t? Although she can’t verbally communicate, she does understand what other people are saying to her and about her. She uses an electronic communication device to express her needs and uses a gait trainer for mobility.

Harlie had her first seizure on January 13, 2012 at only 2 ½ months old.  By the time we got to the Children’s Mercy ER, she had already had 12 seizures; that is when our journey really began.  She has fought through the epilepsy, swallowing difficulty, hip dysplasia, developmental delay, optical issues, sleep issues, hearing issues, various therapies 5 days a week, several genetic tests, medical studies, multiple surgeries (in the past and more in the future), and has seen a lot of specialists.  We found out in September 2016 that all of her issues stem from her GNAO1 mutation (p.Tyr291Asn (c.871T>A)) and finally we had a concrete diagnosis although it was easier when we had our heads in the sand. Finding out your child’s diagnosis is extremely rare, medically complex with no effective known treatments, and no cure is indescribable. Becoming the “GNAO1 expert” and explaining her diagnosis to every medical professional we’ve met because nobody has ever heard of it has been quite the adventure. Through every challenge Harlie faces, she continues to smile – so we continue to smile. We take life one day at a time and cherish every moment we have.  We don’t know what the future holds, but we hope that Harlie will make friends and continue to love life.  We want her to enjoy the same experiences as everyone else and continue to make a positive impact on the people around her.  Something we hear a lot is, “What is WRONG with your daughter?”  There is nothing “wrong” with her, her path in life just looks a little different than most.  She still wants what every other kid wants: friendship, respect, and inclusion. Thank you for taking the time to learn a little about Harlie and please don’t hesitate to reach out if you have any questions, comments, or stories to share.  We don’t mind discussing her medical history as we believe that open dialogue leads to understanding and acceptance.  “Some of the most wonderful people are the ones who don’t fit into boxes.”

Rare disease charity funds $48,000 in CRISPR research at Michigan State University

Wednesday, June 13, 2018

East Lansing, MI – The Bow Foundation today announced a grant of $48,000 to the Michigan State University Department of Pharmacology & Toxicology. The grant will expand research into a rare genetic disorder with no common name.

The research project will be led by Dr. Richard Neubig, Chair of the Department of Pharmacology & Toxicology in the College of Osteopathic Medicine. It will use revolutionary CRISPR technology to create mouse models to study GNAO1-related neurodevelopmental gene mutations. Through the study, researchers will gather more information about GNAO1, test existing drugs, and identify possible new treatment options.

Roughly 70 children worldwide are currently known to be impacted by a GNAO1-related neurodevelopmental disorder. Children with the disease suffer from severe developmental delays, seizures and uncontrolled muscle movements.

“Dr. Neubig’s research gives the promise of hope to the dozens of GNAO1 patients around the world,” Bow Foundation co-chairs Emily Bell and Alice Fox said in a statement. “By helping the medical community better understand the impact of GNAO1-related neurodevelopmental disorders, it could also open doors to better treatment options for patients. We’re excited to fund this new research project and are thrilled to be working with Michigan State. We look forward to gaining new insights and funding additional studies as we work to increase GNAO1 awareness and change lives.” 

The Neubig lab will develop mice that carry two of the more common GNAO1 mutations. Researchers will analyze the development of these mice and undertake preclinical therapeutic trials with existing drugs to identify new options for controlling GNAO1 neurodevelopmental symptoms in human patients.

“We look forward to working with the Bow Foundation to better understand the consequences of GNAO1 mutations on child brain development and to try to identify new therapeutic options,” Dr. Neubig said. “Their support of families of children with this rare disorder and their support of research to help these children makes a huge difference.”

This is the second major Bow Foundation medical research grant. The foundation previously funded a $100,000 GNAO1 stem cell research study at the University of Virginia’s School of Medicine.

The Bow Foundation is a non-profit dedicated to supporting GNAO1 families through enhanced research and increased awareness. The foundation was launched in April of 2017 by two families who have children with a GNAO1 disorder. Visit www.BowFoundation.org to learn more or donate.