Orange County doctor helps lead the fight against his son’s rare disorder

Sadye Matula

When Orange County plastic surgeon Dr. Justin West’s son, Andrew, was born, he seemed like a usual wholesome baby, not unlike West’s other two kids. But when his spouse, an ophthalmologist, noticed a peculiar tick in his foot, she took to her group of Orange County women physicians on Facebook […]

When Orange County plastic surgeon Dr. Justin West’s son, Andrew, was born, he seemed like a usual wholesome baby, not unlike West’s other two kids. But when his spouse, an ophthalmologist, noticed a peculiar tick in his foot, she took to her group of Orange County women physicians on Facebook for answers. West and his wife figured out the twitch could be a signal of a seizure.

“Throughout my entire everyday living, even like medical faculty, I had by no means viewed a seizure in my lifestyle,” reported West, whose health care exercise is in the town of Orange.

West and his spouse took Andrew to the healthcare facility, where by a analysis couldn’t be discovered. The family was related with a expert. Quickly, Andrew was having up to 50 seizures a working day.

Genetic screening indicated Andrew had KCNT1-similar epilepsy, a exceptional, infant-onset seizure dysfunction prompted by mutations in the KCNT1 gene. Some cases, like Andrew’s, lead to serious, early-onset, intractable seizures West points out are unresponsive to obtainable prescription drugs.

“For most sorts of epilepsy, there are not seriously excellent therapies. There are generic anti-epilepsy drugs, but none of them are actually made for persons with genetic epilepsy,” said West. “Andrew’s sort of epilepsy is what’s known as intractable epilepsy because no quantity of medicine really alterations it. There were instances when he would be on four various anti-seizure drugs, and he will continue to have 40, 50 or more seizures a day.”

The seizures were being harming Andrew’s growth, as he put in much of his time going through a seizure or recovering from 1.

“Andrew’s sort of seizure is an encephalopathic epilepsy, which basically implies your brain doesn’t work,” reported West. “When you are seizing all working day, your brain can’t develop.”

About time the household was capable to get Andrew’s seizures underneath handle with a rigid diet plan and minimal treatment, which intended only a handful of seizures just about every 7 days and a more conscious condition.

“He started to wake up, and we taught him yet again how to maintain himself in his upright placement, how to get up from a laying down posture to a sitting down situation,” claimed West. “He inevitably figured out to realize a bottle and get to out and feed himself with his bottle.”

Andrew is now 4½ decades old, and it is most likely he will under no circumstances learn to communicate or wander. His issue inspired West to co-identified a basis with two other dad and mom whose kids are affected by KCNT1-similar epilepsy.

KCNT1 Epilepsy Foundation’s mission is to “accelerate investigate and drug progress initiatives focused on getting a heal for KCNT1-related epilepsy.” The basis is effective to elevate recognition, participate in investigation and raise cash to support thoroughly chosen preclinical and clinical exploration initiatives.

West serves as director of scientific medication for the foundation. “As a physician advocate, I have been in this distinctive situation that I speak the language of the people today that are executing this,” mentioned West.

West notes his basis has connected pharmaceutical businesses and researchers by now performing in this place, creating a community collaborating on obtaining a get rid of.

“We are really lucky in that most scarce diseases really do not have researchers fascinated for the reason that there are above 7,000 exceptional problems that are identified by the NIH [National Institute of Health],” mentioned West.

The West household, with Andrew on his father’s lap. Andrew suffers from a unusual variety of epilepsy.

(Courtesy of Justin West)

The Orphan Drug Act defines a uncommon sickness as a disorder or affliction that affects much less than 200,000 folks in the United States. Unusual Sickness Week began Feb. 22 and potential customers up to Exceptional Illness Working day on Feb. 28.

West explained rare ailments are actually far more typical than their classification implies.

“The exciting point about rare diseases is a person in 10 People have a exceptional ailment,” mentioned West. “You just never see the similar 1 around and above for the reason that each individual a single is incredibly rare.”

West said his foundation is functioning towards a heal by a quantity of avenues and reported the science community is going towards precision medicine or individualized treatments for a illness.

“Rather than just dealing with KCNT1 as a generic epilepsy, we are attempting to actually focus on the mutation alone,” stated West.

West also explained there is evidence KCNT1 is related with Fragile X syndrome, the most common trigger of mental incapacity.

“The imagined approach is unlocking the insider secrets to what impacts our little ones may basically produce an skill to deal with a lot more substantial group of sufferers,” reported West.

West mentioned he thinks the goal will ultimately be gene editing.

“If we can get that mutated gene and switch it or deal with it then we can theoretically eradicate this disease,” stated West, even though he mentioned he appreciates his advocacy could not get the possibility to modify Andrew’s existence.

Dr. Justin West with his son, Andrew.

Dr. Justin West with his son, Andrew.

(Justin West)

“That staying claimed, we are heading to keep on to advocate for Andrew and realize that it might finish up being about supporting that future era of young children and family members impacted by this,” West said.

West also said he has uncovered hope in people’s eagerness to contribute to his result in.

“I would say the interest and the willingness to share insights or share experience or share ability sets to sort of pitch in for a frequent cause, there is a emotion of hope there,” reported West. “We have found a great deal of joy in the help that we observed from the client community, the medical doctor local community and our area local community.”

To volunteer or donate to KCNT1 Epilepsy Foundation, check out

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