Inspiring life despite a diagnosis

Inspiring life despite a diagnosis

Mariah: THAP12 Mutation

December 20, 2021

Having the only two known cases of a genetic mutation called THAP12, Mariah has used her daughter’s condition for good.  She is a fierce advocate by paving the way for future research to help others who may receive the same diagnosis.

THAP12: The Only Two in The World

Three Month Old Started Turning Blue

Mariah has two daughters, Emma and Abby, both of whom were born with a very rare genetic mutation.  Mariah recounted, “They were diagnosed with a genetic condition that had not ever been discovered before and in fact at this point they are only two known people in the world to have their specific genetic condition. They are ultra-rare.  It feels like we won the lottery in maybe not the best way.”

When Emma was born, it wasn’t apparent right away that anything was wrong. “My pregnancy and birth with Emma was so perfect.  I have such amazing memories of that time.”  Three months later, Emma started turning blue periodically and doing weird movements. 

An ambulance ride and hospital stay later, Mariah received devastating news.  Emma was having two different kinds of seizures, focal and infantile spasms.

Focal Seizures and Infantile Spasms

These types of seizures start on one side of the brain and then move throughout the rest of the brain.  For Emma, these seizures were causing her to stop breathing. 

Infantile spasms are extremely damaging.  “The brain is so chaotic that it can’t learn and develop.  It is critical to get those under control.  We tried treatments with her, pretty serious treatments that have some scary side effects.  We initially got control, but it only lasted a week or two before she started having seizures again.” said Mariah.  Since then, they have struggled to get them under control.

Another Baby was Born with the Same Condition

After genetic testing proved nothing, doctors told Mariah, “We don’t know what is causing this.  But likely it is just some mutation that happened in Emma during pregnancy or early development, and it was probably just a fluke.” 

With the reassurance that it was a one time thing, Mariah and her husband decided to try for another baby.  Abby was born, and around three months she too started exhibiting the same symptoms as Emma. 

Mariah and her husband decided to take Abby into the hospital and start her diagnosis process.  She too was diagnosed with infantile spasms.  It was at that point, they knew there had to be a genetic component, the odds of it happening was too great to just be a coincidence.

Extensive Genetic Testing Reveals

Using Emma, Abby, Mariah and her husband’s DNA, they were able to find the specific gene that was the cause of the mutation.  Both of the girls have THAP12 mutation. 

Finding out the specific mutation, they have been able to start pursuing treatments for genetic treatment for both Emma and Abby.

Being the only known two cases has its severe limitations. There is no current research and understanding on what the extent of the effects the mutation will have.  Mariah said, “I believe that there are people out there that have it, they just don’t know it..they may be doing genetic testing and they just don’t know to look for THAP12 because it is not recognized as a disease-causing gene.”

THAP12 Symptoms

“Some of our big advocacy efforts with out girls and our foundation is to raise awareness for THAP12 so that hopefully we can find more people with this disease.” Mariah said.

THAP12 primarily presents as seizures, Emma still struggles daily with seizures.  Abby, fortunately, has been able to have her seizures more controlled.  Both of the girls have severe developmental disabilities, low muscle tone.  Both girls require total care, neither can hold their heads up, walk, they require to be fed through a g-tube.

Using Grief to Fuel a Purpose

Once Abby was born Mariah recalls, “I think Abby lit a fire under my butt.  Like, ‘Okay, we are going to have to figure this out.’..I went through the mourning process then I just decided that this is what our journey is going to look ikke, and this is what we have been handed. This is really when I really decided that I wasn;t going to sit by and live it, we were going to fight it.”

Mariah finished her interview by saying, “It has been an incredible journey and I’m so lucky that they chose me to be their mom.”