Rare disease hits 2 of family’s 4 children – The Ledger

The children have a debilitating metabolic disorder that affects only 500 people in the United States.

LAKELAND Joel Strickland is a rare boy, not only because he is a diminutive, 12-year-old, guitar-playing, cowboy-hat-wearing, dirt-bike-riding fisherman and hunter whose love of cooking has led to being an online Tupperware salesman.

He is rare because he does all this while dealing with a debilitating metabolic disorder that affects only 500 people in the United States.

Both Joel and his 1-year-old sister, Hannah, have been diagnosed with the genetic disorder cystinosis.

Their parents, Dawn and Travis Strickland, ages 38 and 44, of Lakeland, did not know they each carry a recessive gene for cystinosis, a disease so atypical that only 2,500 people worldwide are diagnosed with it and so serious that the good news is some patients are now surviving into their late 20s, even 30s and early 40s.

Their son Jonah, 14, and daughter Grace, 7, did not inherit the disorder.

In cystinosis the body accumulates the amino acid cystine (a building block of proteins), according to the National Institutes of Healths Genetic and Rare Disease Information Center. The extra cystine forms crystals that can build up and damage cells, which can impact all the organs.

Those diagnosed with the disorder must remain on a strict regimen of medications and supplements to prevent complications, including kidney failure, blindness, muscle wasting, difficulty swallowing, diabetes and hypothyroidism.

All cystinosis patients are very different, said Dr. Carlos Araya, a pediatrician and pediatric nephrologist with Nemours Childrens Hospital in Orlando, who said he has treated only four children with cystinosis, including Joel and Hannah.

Even Joel and Hannah, who have the same genetic marker, seem to be presenting differently, Araya said.

Joel had iron, potassium and bicarbonate deficiencies so severe that by the time he was 18 months old he had developed rickets, a sign of severe malnutrition. His frequent vomiting prevented his body from absorbing nutrients so his muscles were not developing and he was weak, not yet walking, his mother said.

Hannah has phosphorous and bicarbonate deficiencies. She does not have the severe vomiting issues Joel had at her age, but she is underweight, only 14 pounds.

Since being hospitalized for nearly a week in January she had developed cystinosis-related severe dehydration she reverted from eating solid food, her mother said. And it has been increasingly difficult to get her to take a bottle. She wants only water so she is not getting her needed nutrition.

Soon, Hannah, like Joel, will have a feeding tube, which requires a surgical procedure.

When Joels feeding tube was inserted a decade ago, he was receiving both food and medications through it. Now it is for medications only and, his mother said, Joel is an adventurous eater, always looking for something new and exotic to try after the nausea passes from the twice-a-day dose of a maintenance drug that protects his kidneys.

Joel remains small for his age, but he recently completed growth-hormone treatment to help him reach adult height, Araya said.

In addition to Araya, the children see other specialists at Nemours, including a pediatric gastroenterologist and, for Joel, a pediatric endocrinologist. And Nemours has a pediatric ophthalmologist who makes visits to Lakeland, and through him, Joel obtains his eye drops, which much be administered once every hour while he is awake, Dawn Strickland said.

Typically the crystals start forming in the eyes at 18 to 24 months so Hannah may soon also be on a schedule of hourly eye drops.

Life expectancy has improved with treatment, Araya said. Having very good adherence to treatment prevents or delays onset of other conditions.

Although kidney failure can still happen, the medication delays it, he said.

The diagnosis

We had never heard of cystinosis when Jonah was a baby, Dawn Strickland said.

When Joel was born, the Stricklands were starting a retail baby-supplies business in their hometown of Crestview.

Even though they often gave advice to other parents, I kept asking people who would come in to look at my baby, He cries a lot; he is little; he does not take his bottle," Dawn Strickland said. "But people would say, He will be OK, you know what you are doing, look at Jonah.

At 4 months, Joel was having trouble taking a bottle, she said. An ear, nose and throat doctorclipped the base of his tongue to see if that would help with his swallowing. Still, Joel could not finish a bottle and he was constantly crying.

At 11 months, he was often vomiting.

By 17 months, the vomiting was every morning; he wanted water and salty foods. He wasnt walking yet.

They kept labeling him with failure to thrive, a very vague diagnosis, Strickland said. Sometimes hed vomit 10 or 15 times a day. They kept saying maybe he will get over it. I knew there was something serious going on.

The Stricklands changed pediatricians. The new pediatrician hospitalized Joel for two weeks and ran a range of tests ruling out cystic fibrosis, cerebral palsy, celiac disease and other disorders and diseases but still came up with no diagnosis other than low sodium and low potassium.

The family asked to go to a larger hospital so Joel was sent to the University of Alabama at Birmingham, four hours away.

Still no diagnosis. But a feeding tube was inserted so Joel was finally getting vital nutrition and was keeping medications down.

Finding an answer

Travis Stricklands parents were living in Tennessee at the time and his mother suggested they take Joel to Vanderbilt University Medical Center.

After being told the next available appointment with a pediatric nephrologist was three months away, the desperate family, afraid Joel would not survive that long, went to Nashville and parked themselves in Vanderbilts emergency department.

I refused to be sent away, and said 'I will keep coming back until someone sees him,' Dawn Strickland said. I told them 'my baby is sick; no one will help me.'

They got an appointment for the following Monday.

The doctor looked through Joels chart, took one look at Joel and said, Have you heard of cystinosis? Dawn Strickland said. I said Id already asked doctors about it and they had said no.

The nephrologist explained that the only way to tell was through a specialized blood test to check for cystine in the cells and to do an eye exam looking for an accumulation of crystals in the eyes.

They had an ophthalmologist check Joels eyes and he immediately saw the crystals at the back of his corneas, Dawn Strickland said. It wastwo weeks before confirmation of cystinosis came through the results of the specialized blood test.

Even a decade later, the memory of that time frustrates Dawn Strickland.

At the beginning

When Joel was about 1 year old, Travis Stricklandcame across a contractor who said he knew of a child with similar symptoms. He couldnt remember the name of the disease but came back a few days later with cystinosis scrawled on a sheet of paper.

Later the same week, three separate friends called Dawn Strickland, each saying they had seen a show on TLC called Mysterious Diagnosis and the symptoms of the disease, cystinosis, sounded like Joels.

I did research on the internet and when I saw the information on cystinosis I just cried and cried. I knew, this was the answer. But when she asked the specialists about cystinosis, they basically said, Dont go on Google, it will scare you. Just go home, mom, you are not a doctor.

At least a year passed before the diagnosis was made and Joel was started on the life-saving medications.

It was devastating to have lost so much time that we could have been administering meds and to know you lost that time because no one was hearing your voice, his mother said.

Grace was born healthy and never developed symptoms.

Hannah also seemed healthy but Dawn Strickland said she asked for Hannah to be tested at 4 months old because she was small and having some difficulty with feeding. When the tests came back positive, medications and supplements started immediately.

The truth of the matter is, I was praying so hard for a diagnosis with Joel. Whatever the diagnosis is, you want to know. Not knowing is the worst thing a person can go through," she said. "I kept praying, God, please give me wisdom.

She said that when Joel was finally diagnosed, I knew God had prepared my heart to start dealing with this.

Coming to Lakeland

The Stricklands arrived in Lakeland about a year ago, movingfrom New Tampa. A guest speaker from Abundant Life Church in Lakeland had intrigued the family and they started traveling to Lakeland for services.

Travis and Dawn Strickland already had a connection although distant to Lakeland. Each had attended Southeastern University at different times in the late 1990s.

Travis went on to receive a degree in mechanical engineering from Troy State. Typically he works on large contract jobs at power plants, which takes him away for months at a time. He currently is looking for work.

Dawn Strickland said, although it is preferable to have both parents available while caring for two chronically ill children who need medications and caretaking around the clock, the family is struggling financially.

She home-schools the children, which allows the family to work around Joels medical condition, to start lessons after daily bouts of pain and nausea pass.

We can do lessons on our schedule, she said.

Joel got interested in Tupperware when his grandmother signed up DawnStricklandto be a Tupperware distributor as a way to earn money. She admitted she was overwhelmed by the prospect, knowing how much time and energy she expends taking care of the family, home-schooling the children and dealing with medical issues.

But Joel was excited, loving to cook and seeing the possibilities,'' she said.He has a video on Facebook that demonstrates how to make an omelet using Tupperware.

Joel saiddealing with all the symptoms and medications probably makes me more determined.

The future

In the decade since Joel was diagnosed, there have been two major advances in treating cystinosis, unusual progress for an orphan disease that is so rare it is not cost-effective for pharmaceutical companies to invest in research.

The progress can be traced to the Cystinosis Research Foundation, founded in 2003 by Nancy and Jeff Stack of Newport Beach, Calif., whose daughter, Natalie, has cystinosis.

There was very little research going on; it was such an ultra-rare disease, Nancy Stack said. We have raised $43 million since 2003. The operations of the foundation are underwritten so all the funds go directly to research.

The money pays for the type of multi-year research projects needed for breakthroughs, Stack said. Currently there are 151 multi-year studies going on across the world.

When Natalie Stack was born 26 years ago, the only medication was in powder form that was mixed into liquid. In 1993-94, the medication became available in pill form, which was administered every six hours.

There was not another breakthrough until 2013, when the foundation-funded slow-release medication, Procysbi, became available.

Taking the medication two times a day instead of four times a day improves the quality of life, Stack said. The side effects are horrific. Now they get them twice a day instead of four times.

And parents, who went for years without a full nights sleep, no longer had to get up in the middle of the night to administer meds, she said.

The foundation also helped fund development of a tiny wafer that will slowly release medication to the eyes, eliminating the need for hourly eye drops that help reduce the painful feeling of sand in the eyes, Stack said. It will become available after it passes through the Food and Drug Administration approval process.

As children reach into their 20s, we see a lot of side effects from having this disease for decades, Stack said. The average age of death is 27 or 28.

At 26, Stacks daughter Natalie is doing remarkably well, although she takes 46 pills a day. She has received her bachelors degree and her masters degree in social work and has a full-time job.

But cystinosis does not go away, her mother said. It is progressive.

A foundation-sponsored researcher has been able to reverse cystinosis in a mouse study using stem cell and gene therapy, Stack said.

We are hoping to get approval to start human trials next year," she said. "We never know what we will get with human patients but we hope at a minimum it could stop cystinosis where it is. At its best, we could reverse damage.

Marilyn Meyer can be reached at marilyn.meyer@theledger.com or 863-802-7558. Follow her on Twitter @marilyn_ledger.

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Rare disease hits 2 of family's 4 children - The Ledger