STEAMBOAT SPRINGS You can hear the love in Mariah Gillaspies voice as she talks about her daughters Emma and Abby, who suffer from a rare genetic disease that causes seizures and development issues.
Emma, shes our oldest, and shell be 4 in October, Mariah said. Shes our calm, sweet little child. She has these little coos that sound like a dove. She really enjoys music, and she loves being around other kiddos her age.
Abby is our younger daughter, and shell be 2 in October, and she is our feisty little thing, Mariah continued. So, she lets you know when shes happy; she lets you know when shes not happy.
There is no question the two girls, the only two people in the world believed to have this disease, are surrounded by the love they get from Mariah and their dad Mark.
Mark grew up in Steamboat Springs and graduated from high school here in 2001. The couple now live in Centennial, but Marks parents, Jeanne and Joe Gillaspie, still live in Steamboat as does Marks older brother.
Four years ago, Mark and Mariah were overwhelmed with joy as they welcomed their first child Emma to the world, but when she was three months old, the couple started to notice she was having some strange movements, and when she started having episodes where she would hold her breath until she would turn pale, the couple took her to the doctor.
The doctor initially thought it was reflux, but when Emma stopped breathing in the doctors office, she was rushed to Childrens Hospital of Colorado for more evaluation and tests.
Throughout all this, I was convinced everything was going to be OK, Mariah said. It never crossed my mind that something was seriously wrong, and I had never considered that these were seizures.
Eventually, Emma was diagnosed with infantile spasms, which Mariah said didnt look serious on the outside but were damaging Emmas brain and impacting her development from the inside. Emma started treatment immediately, and the family was encouraged with the results. But then there was a relapse and a new medication, and then another relapse and another new medication.
Mariah said each new medicine came with a longer list of side effects, and Emmas immune system suffered. She had a bout with pneumonia that left her in the hospital for two months.
Through it all, the Gillaspies continued to search for answers.
We did a whole slew of genetic testing, and it came back inconclusive, Mariah said. They found absolutely nothing that could be the cause of her disease, and they told us this is probably some completely random condition that was caused by something that happened in utero.
They also told the Gillaspies that Emmas condition was rare, and there was less than a 3% chance of it happening again. So after extensive genetic testing, they decided to have a second child.
When Abby arrived two years later, they were thrilled, but at about six weeks, they noticed their youngest daughter was displaying the same movements that Emma had shown prior to her diagnosis. So it was back to the doctors, and it was confirmed through genetic testing that Abby and Emma shared the same mutated gene THAP12.
After discovering their daughters were suffering from the same condition, the family embarked on a grassroots effort to drive research about the rare genetic disease, which led to the creation of a foundation, Lightning and Love, a name that was chosen because the family believes lightning struck their family twice in the form of two daughters with the same rare disease.
The doctors would say, Im sorry, theres nothing we can do. We have to wait for science to catch up,' Mariah said. Every doctor that weve encountered has really been amazing and done their very best for us. Its just unfortunate science hasnt caught up to the girls, yet. Thats kind of, whereas parents, were passionate enough to move science along a little faster.
The nonprofit organization is supported by a GoFundMePage, and tax-deductible donations can be made through the Lightning and Love website.
The latest research funded by the foundation involved genetically engineering a zebrafish model to see if it showed symptoms of disease, specifically seizures. The zebrafish did have seizures, which Mariah said was a major breakthrough toward the ultimate goal of finding a gene replacement cure for her daughters.
But the journey for Mark and Mariah has proven to be more than just research and discovery.
What were realizing is the more we talk about it, and the more we do to get our story out there, the more were realizing that theres a lot of other parents that are going through tough times with their kids, too, Mark said. In an odd twist, or an ironic twist, this tough hand that weve been dealt has actually been a very positive light to a lot of other people out there. For me, that is just as important as the research.
The familys story was recently featured on the podcast, Go Shout Love.
The couples positive message is guiding them along the road they hope will lead to a better life for their family. But in the meantime, Mark and Mariah will continue to put smiles ontheir daughters faces the same way most other parents do by offering their love, support and opportunities to find happiness.
For Emma, that means being tossed into the air and caught by her daddy, and for Abby, it is time in her sensory room and being around her dad and her family.
Emma loves very big movements. Shes not mobile, and she cant walk, so when we kind of throw her around in the air or fly her around the room, she absolutely loves it, Mariah said. Abby loves her daddy. She gives big old smiles when he walks into the room.
To reach John F. Russell, call 970-871-4209, email jrussell@SteamboatPilot.com or follow him on Twitter @Framp1966.
See more here:
Family seeks answers, finds hope after daughters diagnosed with rare genetic condition - Steamboat Pilot and Today
- First cow to produce human insulin in its milk created in Brazil - Cosmos - March 18th, 2024
- Engineering the Microbiome: CRISPR Leads the Way - The Scientist - March 18th, 2024
- The de-extinction process to bring woolly mammoths back to life - The Week - March 18th, 2024
- CRISPR gene editing applications are expanding dramatically in agriculture. Here are the latest advances - Genetic Literacy Project - March 18th, 2024
- Polymerase Chain Reaction (PCR) - National Human Genome Research Institute - March 18th, 2024
- Colossal Genetic Breakthrough Could Be the Key to Reviving Wooly Mammoths - Syfy - March 18th, 2024
- Breaking: Crop gene editing greenlighted by European Parliament. Fight over labeling looms as measure moves to the ... - Genetic Literacy Project - February 10th, 2024
- GMOs on the spotlight in East Africa again - The Citizen - February 10th, 2024
- Blog: Let's Not Ignore the Science in the Fight Against Malaria - chimpreports.com - February 10th, 2024
- Genetic engineering techniques - Wikipedia - January 9th, 2024
- 20.3: Genetic Engineering - Biology LibreTexts - January 9th, 2024
- Genetic Modification Techniques and Applications - Technology Networks - January 9th, 2024
- Transformation-associated recombination (TAR) cloning and its applications - EurekAlert - January 9th, 2024
- Are GMOs Safe? The Benefits of Science-Enhanced Foods | TIME - TIME - January 9th, 2024
- Here's the skinny on fast-emerging genetic engineering tools that are rapidly improving global farming - Genetic Literacy Project - January 9th, 2024
- What Fruit Looked Like 100 Years Ago, Before Genetic Modification - Green Matters - January 9th, 2024
- APHIS Reopens Comment Period on Proposed Additional Exemptions for Plants Modified or Produced Through Genetic Engineering - The National Law Review - January 9th, 2024
- Restriction Enzyme Market is set to Reach US$ 647.41 million at a CAGR of 5.7% from the forecast period 2023 to ... - GlobeNewswire - January 9th, 2024
- Genetic engineering - DNA Modification, Cloning, Gene Splicing - December 13th, 2023
- Star Trek: Julian Bashir's Tale of Genetic Engineering and the Complexity of Parental Acceptance - GameRant - December 13th, 2023
- How to Improve Livestock Health, and Cut - Breakthrough Institute - December 13th, 2023
- Opinion | The Genetically-Engineered Tree That Never Was - Common Dreams - December 13th, 2023
- Genome Editing Market Size and Share to Surpass USD 14.5 billion by 2035 | Roots Analysis - Yahoo Finance - December 13th, 2023
- Dallas-Based Colossal Biosciences Aims to De-Extinct the Woolly Mammoth - The Texan - December 13th, 2023
- Revolutionizing probiotic therapy: The emergence of CRISPR-Cas engineered strains - Medical Xpress - December 13th, 2023
- Genetically engineered cell therapies with mRNA lipid nanoparticles for transferrable platelets - Phys.org - December 13th, 2023
- 'Perhaps GMOs are closer to natural processes than we think': How genetic modification mimics natural evolution of ... - Genetic Literacy Project - December 13th, 2023
- Advancements in Genome Editing and CRISPR-Cas9 Technology - Medriva - December 13th, 2023
- Gene Therapy: Unlocking Innovations in Cancer Treatment, Detection, and Drug Development - Securities.io - December 13th, 2023
- Mayo Clinic Research on Genetically Engineered Virus and CAR-T Cell Therapy for Liver Cancer - Medriva - December 13th, 2023
- Global Gene Editing Market Poised for Significant Growth, Projected to Reach $14.28 Billion by 2027 - EIN News - December 13th, 2023
- Principles of Genetic Engineering - PMC - National Center for ... - May 17th, 2023
- Quitting: A Life Strategy: The Myth of Perseveranceand How the New Science of Giving Up Can Set You Free - Next Big Idea Club Magazine - May 17th, 2023
- 18 Human Genetic Engineering - Clemson University - March 29th, 2023
- Pros and Cons of Genetic Engineering - Benefits and Risks - March 29th, 2023
- How artificial skin is made and its uses, from treating burns to skin cancer - South China Morning Post - March 29th, 2023
- Genetic Engineering - Meaning, Applications, Advantages and Challenges ... - March 13th, 2023
- Revolutionary Specialty Enzymes Transform Industries, Projected to Reach $2.2 Billion by 2031 - Billion-Dollar - EIN News - March 5th, 2023
- Explained: What is genome editing technology and how is it different from GM technology? - The Indian Express - April 2nd, 2022
- Scribe Therapeutics to Participate in Upcoming Goldman Sachs The New Guard: Privates Leading the Disruption in Healthcare Investor Conference - Yahoo... - April 2nd, 2022
- San Antonio Zoo In Discussions on Woolly Mammoth Project - iHeart - April 2nd, 2022
- Xenotransplantation trials will require adjusting expectations, experts say - STAT - April 2nd, 2022
- 5 Interesting Startup Deals You May Have Missed In March: Restoring The Woolly Mammoth, Faux Seafood And Lots Of Bees - Crunchbase News - April 2nd, 2022
- Synlogic to Present Data on Phenylketonuria and Homocystinuria Programs at the Society for ... - KULR-TV - April 2nd, 2022
- The Bay Area food tech industry is creating more than vegan burgers. Heres whats next - San Francisco Chronicle - April 2nd, 2022
- Student Startup Teams to Compete For $110000 Cash Prize Pool in U of A's Heartland Challenge - University of Arkansas Newswire - April 2nd, 2022
- Should we test for differences in allergen content between varieties of crops and animal species? - Open Access Government - April 2nd, 2022
- Genetic Engineering - Courses, Subjects, Eligibility ... - December 22nd, 2021
- Scientists Used CRISPR Gene Editing to Choose the Sex of Mouse Pups - Singularity Hub - December 22nd, 2021
- Report calls for broad public deliberation on releasing gene-edited species in the wild - EurekAlert - December 22nd, 2021
- RNA and DNA Extraction Kit Market Study | Know the Post-Pandemic Scenario of the Industry - BioSpace - December 22nd, 2021
- Opinion: Allow Golden Rice to save lives - pnas.org - December 22nd, 2021
- It's time for an alliance of democracies | TheHill - The Hill - December 22nd, 2021
- Aridis Pharmaceuticals Announces a Pan-Coronavirus Monoclonal Antibody Cocktail That Retains Effectiveness Against the Omicron variant, other COVID-19... - December 22nd, 2021
- 2021: when the link between the climate and biodiversity crises became clear - The Guardian - December 22nd, 2021
- Wuhan lab leak now the most likely cause of Covid pandemic and the truth WILL come out, experts tell MPs... - The US Sun - December 22nd, 2021
- Biotech ETFs That Outperformed Last Week - Yahoo Finance - December 22nd, 2021
- Human genetic enhancement - Wikipedia - October 5th, 2021
- Viewpoint: Part 1 Opposition stirred by anti-GMO advocacy group propaganda fading in the developing world, as more countries embrace crop... - October 5th, 2021
- Amyris Partners with Inscripta to Enhance Development of Sustainable Ingredients Using the Onyx Genome Engineering Platform - WWNY - October 5th, 2021
- Kingdom Supercultures raises $25m to expand Non GMO suite of microbes to unlock new flavors, textures, and functionalities in food & beverage -... - October 5th, 2021
- Fact check: Genetically engineering your salad with the COVID-19 vaccines? We're not there yet. - USA TODAY - October 5th, 2021
- Making the Transition from an Academic to a Biobusiness Entrepreneur - Genetic Engineering & Biotechnology News - October 5th, 2021
- Is The New York Times Finally 'Learning To Love GMOS'? - American Council on Science and Health - October 5th, 2021
- Gene editing, joke theft and manifesting - The Week UK - October 5th, 2021
- Opinion: Saving lives through real social justice - Agri-Pulse - October 5th, 2021
- What is biohacking? - News Anyway - October 5th, 2021
- Science, business and the humanities: CP Snow's 'Two Cultures' sixty years on - TheArticle - October 5th, 2021
- Probiotic Yeast Engineered To Produce Beta-Carotene - Technology Networks - April 17th, 2021
- In the US, Imminent Release of Genetically Modified Mosquitoes To Fight Dengue - The Wire Science - April 17th, 2021
- CRISPRoff: A New Addition to the CRISPR Toolbox - Technology Networks - April 17th, 2021
- A Massive New Gene Editing Project Is Out to Crush Alzheimer's - Singularity Hub - April 17th, 2021
- Grammar of the Genome: Reading the Influence of DNA on Disease - Baylor University - April 17th, 2021
- We cannot let China set the standards for 21st century technologies | TheHill - The Hill - April 17th, 2021
- First GMO Mosquitoes to Be Released in the Florida Keys - Singularity Hub - April 17th, 2021
- Novavax to Participate in University of Oxford Com-COV2 Study Comparing Mixed COVID-19 Vaccine Combinations - BioSpace - April 17th, 2021
- AmunBio and NorthShore University to Advance Cancer Immunotherapy with Engineered Oncolytic Viruses - OncoZine - April 17th, 2021
- StrideBio Announces a Multi-technology License and Master SRA with Duke University to Advance Next-generation Gene Therapies - BioSpace - April 17th, 2021
- ThermoGenesis : The History of Cell and Gene Therapy - marketscreener.com - April 17th, 2021
- EU's refusal to permit GMO crops led to millions of tonnes of additional CO2, scientists reveal - Alliance for Science - Alliance for Science - February 14th, 2021