When Dustin and Penny Howard brought their newborn daughter Harper home from the hospital in spring 2010, all seemed normal for the Carrollton, Texas, family. But less than three weeks later, Harper began suffering from violent seizures that would ultimately lead to countless doctors’ visits, medications and therapies until her untimely death at age 5.

“For two weeks we were the perfect family of four,” Penny Howard, told FoxNews.com. “Then [Harper] had seizures starting at 2 weeks old, and from there, we were thrown into this life of special needs that we had no idea how to navigate.”

Over the next 10 months, the Howards traveled the country searching for a diagnosis for their daughter’s condition as well as any medications that would reduce the number of seemingly constant seizures that wracked her small body.

It wasn’t until they visited the Children’s Hospital of Boston, and met with an epilepsy specialist there, that her condition was given a name. A chromosome analysis revealed that Harper was living with a disorder known as CDKL5.

What’s in a name?

CDKL5 is a rare, non-hereditary genetic condition resulting in early onset seizures that are incredibly difficult to control, according to the International Foundation for CDKL5 Research. It is often associated with severe neurodevelopmental impairment as well.

“[CDKL5] does not allow the nerve cells to develop properly,” Dr. Richard Rivera, a pediatrician at Texas Physician’s Health Group in Carrollton, Texas, who treated Harper told FoxNews.com. “This results in developmental delay, mental retardation, growth retardation, and intractable seizures.”

The CDKL5 gene is located on the X-chromosome, according to Rivera, and typically codes for an enzyme that has been known to play a role in regulating and maintaining normal brain development. It is understood, Rivera said, that children with CDKL5 are missing that specific enzyme. However, the cause for CDKL5 and the role that the CDKL5 enzyme plays in the body is not entirely known.

CDKL5 is extremely rare; Rivera cites less than 200 documented cases of the disorder since the 1940s, when it was first described. 

After Harper’s diagnosis, the Howards were unwavering in their search for a treatment for their daughter, who had been suffering from a multitude of symptoms including gastrointestinal and metabolic problems, cardiovascular issues and severe developmental delay. Additionally Harper’s seizures were occurring up to 20 times per day.

“Seizures stole everything from her,” Penny said. “Basically, we spent three years chasing a better quality of life. We traveled the U.S., went to several different doctors trying to figure out a way to make her life just a little bit better here and a little bit better there.”

Penny also detailed the numerous surgeries that Harper underwent throughout her life, including one that fitted her with a gastronomy tube – a tube that is inserted through the abdomen and allows for the delivery of medication and food directly to the stomach – and a vesicostomy, which is a surgical opening made in the bladder that allows urine to drain to the outside of the body, thus preventing urinary tract infections. 

“It’s a medical nightmare for a lot of these kids,” Penny said.

There is not a single pharmaceutical drug currently on the market that can treat seizures for children with CDKL5, according to Penny. Instead patients are often given a number of anti-epileptic medications in addition to various types of therapies that attempt to improve motor function.

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Looking for alternatives

In July 2013, however, Penny discovered Real Scientific Hemp Oil (RSHO), a legal substance derived from cannabis that contains a substance called cannabidiol (CBD) which, according to ProjectCBD.org, has been shown to provide relief from seizures that fail to be controlled by other treatments. RSHO contains no trace of Tetrahydrocannabinol (THC), the compound found in marijuana that is responsible for the drug’s hallucinogenic effects.

Harper’s treatment with RSHO began two months after her mother learned about the oil from HempMeds.com, and after just a few months of it being administered to her, Harper’s family and doctors said they saw a noticeable change in the daily number of seizures she was experiencing.

“[Harper] ran the gamut of all the medications, some not effective at all, some improved [the seizures] slightly,” Rivera said. “Then I remember Penny coming to me [with RSHO] and I said ‘I can’t find a reason not to, let’s try it’, and a couple weeks later she seemed more alert, more awake, and the seizures started decreasing, after a couple of months they were down to one to two a day.”

Harper’s change, her mother recalled, was incredible. 

“After we were able to find a way to help stop her seizures, she really came to life and had a wonderful life and was an amazing little girl who liked to do typical 5-year-old things,” Penny said. “She went from existing as part of our family, to being an interactive part of our family… and that’s a big deal, because for three years, we had no interaction from her whatsoever.”

For the next three years, the Howard family enjoyed their new life with Harper, who was still living with CDKL5 and its symptoms, but her attitude, interaction, and communication, they noticed, had improved substantially.

A turn for the worse

However, in January of 2016 Harper was diagnosed with a cold that then developed into pneumonia. Pneumonia was not uncommon for Harper, as children with CDKL5 and similar disorders are often at an increased risk for a compromised or sensitive immune system, Rivera asserts.  

“In most of children with [CDKL5], the disorder itself is not what is fatal; usually [death] is caused by secondary complications,” Rivera said. “[Kids with CDKL5] don’t have a strong cough and can’t take deep breaths unless you go to extreme lengths like intubation or putting them on a ventilator and [Harper’s family] didn’t want to do that.”

Harper entered the hospital on January 6 because her pneumonia had caused a life-threating metabolic imbalance and her organs were slowly shutting down. This imbalance, Penny said, was not detected until Harper was brought to the hospital, and by then, it was already too late. She died two days later; just three months shy of her sixth birthday.

Harper’s legacy

The Howards made the decision to donate Harper’s brain and skin tissue to CDKL5 research in hopes of advancing a better understanding of the disorder and bring about a treatment that would help other children with CDKL5.

“To us, we kind of had come to terms that the inevitable was that she would pass away, we just didn't know when,’ Penny said. “And it was an honor to be able to leave that as her final gift to continue to move science forward.”

Today, researchers at the University of California, San Diego School of Medicine are utilizing Harper’s donation to aid their research which focuses on the causes of CDKL5 and any potential treatments. Harper’s tissue is also being studied at the University of Pennsylvania.

“We want to understand the gene that leads to the disorder and how that gene expression affects the cell, and how it creates problems in the patient,” Dr. Alysson Muotri, researcher and an associate professor at UC San Diego, told FoxNews.com.   “The other part focuses on finding treatments and drugs that can interfere with the pathway of CDKL5.”

Since Harper’s donation, researchers said they have managed to create a “mini-brain” that maps neurodevelopment in children with CDKL5 during the first trimester of human growth. This allows them to view the initial stages of the disease.

Harper’s brain was the first with CDKL5 to be donated towards research and is crucial to the work they are doing, researchers said. 

“Part of the reason [for the difficulties of CDKL5 research] is the lack of materials to study. Without brain tissue, we can’t learn how CDKL5 works in the brain,” Muotri said. “Most donations we receive are from patients that are still alive, not the brain tissue, because it’s hard for families to donate the brains of loved ones, but it’s very important for research.”

Further complications of CDKL5 research stem from its lack of funding.

“We just don’t have support, with such unique disorders we don’t receive the funding,” Muotri said. “Pharma is not interested in helping; instead we use philanthropy for funding. If we had more support the pace of the research would be much faster.”

The Howards said the existence of Harper’s living cells allow them to feel closer to their daughter, and for Harper’s sixth birthday Penny and her husband decided to visit those cells located at the research center in San Diego. The visit, the researchers said, led to an emotional experience.

 “We’ve had lots of families that have donated cells, but Harper was the first to pass away,” Muotri said. “[The visit] was very emotional for everyone involved; my students growing the cells and the family, but it was a very positive experience, the family was amazing and very open minded, and very happy to see that [Harper] was still ‘alive’ and contributing science.”

The future of CDKL5 research, Muotri said, will focus on identifying drugs to help patients with CDKL5 and begin clinical trials on potential treatments.

In light of their heartbreak, the Howard’s remain optimistic and are still vital figures within the network of CDKL5 families. They continue to share Harper’s story through their blog, Hope4Harper.com, confident that their story will help the many other families living with a child with special needs.

“We shared [Harper’s story] just not even realizing the impact that this would have for thousands of people,” Penny said. “We opened our lives so that we could help others and provide them with the little bit of hope that we were searching for.”

For more information, visit Hope4Harper.com.