GNAO1 Stories

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. 

Emiliana`s  Story – Learning about Resilience

Written by: Emiliana’s Mom Natalia

I had never known what resilience was until I met Emi, my little daughter.

She was born in October, 2010 almost 2 months earlier than expected.  I remember she was a little baby in the Neonatology Box, sleeping without her mummy.  It seemed she was there without any fear, trying to remove the feed tube of her nose.  A nurse told her, “Emi if you remove the tube, you will have to be fed by your mum.”  She did not have enough strength to suckle. And I had just had a surgery and did not have enough milk for feeding her but finally she managed to remove the tube, I was terrified, then the little baby looked me directly to my eyes making contact, and opened her mouth: the sweet link between a mother and a daughter had begun.

That was the first time Emi taught me about resilience.

Our first year was normal, like others families, until she was 6 months in when our pediatrician started to suspect something. Emi was not achieving the average skills for a baby of her age.  That was the time we met our first neurologist. They said she has hypotonia, and motor development delays, they did not know if she would walk, or talk. Even worse they did not know what was causing that.

We began a long, long journey, a lot of medical consultants, a lot of therapies, a lot of people coming and going looking for her diagnosis, looking for her treatment, fighting against the Medical Insurance, fighting against everything, even against ourselves that were in the middle of the process of accepting what was happening. We are 6 years later and the journey still goes on.

It was not easy but at the same time you have the opportunity to discover a new world, to be a special parent (a parent of a kid with special needs).  My little princess always showed her strength, never complained when she was examined, when she was put to a new and sometimes painful or invasive treatment and when she had her therapies.  She never complained, she did it, always with a smile and good vibes.  In the process, the people who met her, started to fall in love with her.

The long stay in the Hospital

The last three years Emi had had some episodes difficult to explain. Orofacial dyskinesia, a type of mouth`s involuntary movement. It used to happen very shyly and it took 2 or 3 days, no more. At the beginning something imperceptible, however each episode was longer, and more intense.

I remember those days but none of our doctors were worried, and even when we flew to Rochester, NY to see an expert in movement disorders (Dr. Jonathan Mink) he told us that these kind of involuntary movements were a symptom of something like fever that is triggered or sometimes when she is dealing with an infection, anxiety or stress.  We could deal with it; it was not our main issue.  So, we forgot about those episodes and we put our energies in giving Emi all the opportunities for improving her motor skills.  Speech therapies, OT, motor therapies, horse therapies, assistive technologies and equipment’s.  In parallel we continued looking for her diagnosis, the cause of those symptoms, we send samples to everywhere, we made queries with specialists in Spain, US and Japan.  We discarded a high number of possible diseases at that time we did not know the name of the “monster”.

In August 2016, after a gastroenteritis she displayed those movements again, but this time they took longer, and they were stronger.  One week later she was in the ICU drug induced coma, mechanical ventilated. The violent involuntary movements migrated from her mouth to her limbs.

My husband and I did not understand anything.  Our hearts were broken seeing her.  What was happening? Come on monster, show your face!

They tried several neurological drugs for almost 2 months, but nothing worked.  I learned to count the number of sedatives rescues she used to receive to measure the level of her crisis.

In parallel and with the help of good people we managed to send blood samples to South Korea and the US, to have a new test done, a Whole Exome Sequencing, essentially a mapping of her DNA that would detect every mutated gene that could be the possible source of the symptoms.  At that time, genetic disease means that we would put a name to the monster, but we could not give her a cure, only relief for her symptoms and look for other cases in the world.

2 days before her birthday, October, 25.  The number or rescues started to decrease and finally she opened her eyes smiling as usual, recognizing her brother Mateo.  She went through cycles.  She was in ICU and every intra hospital virus triggered the crisis again.  We were stuck.  Our neurologist gave us a new article about a gene called GNAO1 which mutations were linked to some types of epilepsy. But recently a few cases (6 the article said, only 6 in the whole world) with children with severe involuntary movements were detected to have the same mutated gene. The same article said that the crisis was highly resistant to any pharmacological treatment.  We had tried almost everything.

Resilience

To fight for her was our duty.

We started research and found a medical article in where it was described a little girl in Turkey with the same mutation, that had underwent a surgery called Deep Brain Stimulation. A surgery usually for Parkinson. There was not much experience with cases like ours, or with young kids.
It was also the option that our neurologist had in mind, so she made and inter-consult to the referents in this procedure, Dr. Jean Pierre Lin, from The Evelynda hospital, in London.

We spent the Christmas in the hospital, we made a Christmas tree in her room, at that point, 4 month later, we were a family there.  On January 4th,2017 Emi underwent surgery, deep brain stimulation, first case with her condition in Argentina.  Several neurosurgeons and other members of the team were part of the procedure. The surgery took 11 long hours.

They turned on the stimulator two days later, at midday on a very slow setting, that night Emi received the last rescue medicine.  They started to decrease the level of sedatives, slowly, day by day.

4 weeks later our brave girl was discharged of the ICU without any crisis.

Unfortunately she was operated again 4 months later due to a staph infection, at beginging of August.  We camped in the hospital for almost a year.

There is a song is Spanish that say ” me pasaron tantas cosas, que no me acuerdo de nada” So many things happened to me, that I do not remember anything. This entire long journey would be summarized by that phrase.

Now Nov 2017 we are backed home. Emi is doing well and we are on track again in our long journey of giving her all the opportunities to sort her motor issues.  She may walk one day, she may talk one day.  We do not know but we work pursuing these goals every day.

THE GNAO1 Family and the BOW Foundation

During the stay in hospital and as soon after we were told about Emi´s diagnosis, we found on the Internet (Facebook) the few other families with the same genetic disease. For the first time our condition was not rare for some people, for the first time we did not feel alone anymore.
At that time there was a family in the US struggling with the same situation as us, and some nights we exchanges messages, from ICU to ICU.

In my case, close to the surgery date, as soon as I found the other families, we had the opportunity to hear their testimony and ask them about every step of her recovery. I knew Deep Brain Stimulation was totally new for the cases like Emi´s, but I could hear the others testimony, and it had worked for other kids, I knew it may work for my daughter.

Now, looking back, one year later, we understand that we had luck, to put our daughter in the best and expert medical hands we have ever could.

Along the process we touched base with the Bow Foundation, doing great things for the GNAO1 awareness, supporting the families and fundraising for research.

We are working on understanding this disease just discovered, and in consequence to find a cure in the near future. But we also are pursuing to make awareness for an earlier Diagnosis and intervention.  There are several kids suffering for the same illness without the possibility to receive at least a treatment for the symptoms. They are just kids.

So, you have reached us, and now you are part of our family. Your support is very important for us.

Thanks for being with us during this long journey. We will continue together as a Gnao1 family, pursuing the same goals.

Bow Foundation to host inaugural GNAO1 medical conference

Washington, D.C. – The Bow Foundation will host a first-of-its-kind medical conference in our nation’s capital on Monday, November 13. Families from around the world will meet with doctors and researchers about GNAO1, a rare genetic disorder with no common name.

Roughly 60 children worldwide are impacted by a GNAO1 disorder. Children with the disease suffer from severe developmental delays, seizures, and movement disorders.

“This conference gives us a great opportunity to foster new relationships, discuss shared experiences, and engage the medical community in a conversation about treatment and research opportunities,” Bow Foundation Co-Chairs Emily Bell and Alice Fox said in a statement. “We appreciate the continued support of our many donors as we work to increase GNAO1 awareness and change lives.”

Conference participants from across North and South America will build relationships while reviewing existing GNAO1 medical papers and discussing ongoing research.  The conference will be streamed live on Facebook starting at 10:30 a.m. Click here to tune in.

The Bow Foundation is 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.

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Local Charity Funds UVA Rare Disease Research

James UVA Check

James Fox, a GNAO1 patient, drops off the Bow Foundation’s $50,000 check to UVA. 

August 9, 2017

Charlottesville, VA – The Bow Foundation today announced a grant of $50,000 to the University of Virginia School of Medicine to fund research into a rare genetic disorder with no common name.

The cutting-edge project will be led by Michael McConnell, PhD, and will study GNAO1 gene mutations. Roughly 50 children worldwide are impacted by a GNAO1 disorder. Children with the disease suffer from severe developmental delays, seizures, and movement disorders.

“We are honored and excited to be able support this great project at the University of Virginia,” Bow Foundation Co-Chairs Emily Bell and Alice Fox said in a statement. “Dr. McConnell’s research will help pave the way to a brighter future for children like ours who are impacted by a GNAO1 disorder. We look forward to gaining new insights and funding additional studies as we work to increase GNAO1 awareness and change lives.”

McConnell, of UVA’s Department of Biochemistry and Molecular Genetics, is a leader in precision medicine. His work is focused on unlocking the potential of stem cell therapy to deliver care for patients with genetic-based diseases. McConnell utilizes a technique that takes tiny skin samples and creates pluripotent stem cells (iPSCs), which in turn can be developed into neurons for further study. His research has the potential to increase understanding of genetic disorders and may ultimately lead to new or better treatments.

“I’m thrilled that we are able to team with the Bow Foundation to do this important work. Scientists using pluripotent stem cells have made a number of exciting new discoveries in neurological disorders over the past few years,” McConnell said. “GNAO1 patient advocacy has been essential to bringing cutting-edge science to this rare disorder.”

The Bow Foundation is 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.

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