Monday, June 23, 2014

Special Care for Special Kids at Johns Hopkins All Children's Heart Institute's Williams Syndrome Clinic

They came from as far away as South Florida and Alabama, parents and young children buoyed by a day filled with specialized medical treatment, helpful information and hope.

The event that drew them to St. Petersburg was the bi-annual Williams Syndrome Clinic held by the Johns Hopkins All Children’s Heart Institute this past May. The families that attended shared a powerful bond in the unique spectrum of traits that link their young ones – and in the knowledge they are not alone in their journey.

Back home, those defining characteristics make Williams syndrome children stand out for their differences; yet what mattered here were their similarities and a reassuring sense of community that connected the families and staff.
Camila traveled with her mom from Miami for the WS Clinic.

Parents not only had their children examined by a range of expert All Children’s Hospital physicians but had a chance to talk to other families and learn more about Williams syndrome: a rare genetic disorder that occurs in roughly one of 10,000 births. It is marked commonly by heart, gastro-intestinal and kidney problems, a pixie-like facial appearance, mental ability from low average to mildly retarded, excellent verbal skills, a highly social demeanor and, very often, a passion for music.

The clinic is one of only 12 in the United States and has been an enormous help – both for new WS parents desperately seeking guidance and those with experience raising a Williams child. And it’s an example of how All Children’s is helping lead the way nationally with clinics that offer highly specialized, one-stop care, designed to help children with multiple needs.

Offered in the fall and spring, the clinic attracts families from around Florida and beyond – on this day from Miami, Jacksonville and Ashford, Ala.  – to be seen by All Children’s specialists in cardiology, nephrology, GI, neurology, genetics, endocrine, ophthalmology, audiology and developmental delays. And as it grows, the clinic hopes to add specialists to help in other areas of need for Williams syndrome patients, such as physical therapy, occupational therapy, speech/language and psychology. Growth is already on the horizon: The one-day clinic will be held over two days this fall for the first time, Oct. 9-10.

Hudson greets baby Liv, held by volunteer Alicia Klingensmith
“You have at least six or seven specialists that these families see on a regular basis, and for any one family, that can mean taking as much as six or seven days off,” said JHAC Heart Institute cardiologist and clinic organizer Gul Dadlani, M.D.  “And since their kids are probably seen twice a year, you’re really looking at 12-14 days off a year to get to all those appointments. So having disease-specific clinics like this basically allows these families to take one day off and see as many specialists as possible. They still get the same quality of care, and probably better quality of care – because on that day everything is focused toward this specific condition.”

Williams syndrome has received widespread attention over the past three decades from scientists and geneticists and increasingly been in the national spotlight – from a segment on 60 Minutes some 15 years ago to a music camp at Nashville’s Vanderbilt University involving various country music stars to a highly active and helpful parental organization in the Williams Syndrome Association.

Debby and Mikey Johnson with Dr. Dadlani 
But parents of newly diagnosed WS babies and children still frequently find themselves searching for answers and specialized medical care. And that is why many have flocked to All Children’s for the clinic started last year by Dr. Dadlani with a helping hand from a WS parent from St. Petersburg, Debby Johnson, whose 20-year-old son, Mikey, was a frequent patient at ACH during his childhood. She proposed the idea of an ACH clinic over the years and it was Dr. Dadlani who recognized the merits and brought it to life.

“I had the idea when Mikey was little,” Debby said. “We lived close to All Children’s and had fine doctors there, so we didn’t really need a clinic ourselves. But if you live a fair distance from your institution, it made a lot of sense to go a hospital and see several doctors in one day. The idea for this was to help families who might live in rural Florida or far from a big hospital.”

“I think just knowing that the specialists they’re seeing have experience with Williams syndrome is a huge relief,” added ACH nurse Heather Wilson, an RN practitioner and the WS Clinic Coordinator.

For Beth Jones, the six-hour drive from Ashford to have her 4-year-old son, Hudson, seen by Dr. Dadlani and others was completely worthwhile. Hudson was diagnosed with WS by his pediatrician at 22 months, after Beth became concerned that he wasn’t meeting developmental milestones. They were sent to a geneticist four hours north at the Children’s Hospital of Alabama in Birmingham and the doctor immediately recognized that Hudson had Williams syndrome..

“We were like, ‘What’s that?’ – we were very upset, because we’d been suspecting something was wrong for months,” Beth recalled. “We got him appointments with a cardiologist and had his eyes and ears checked. But many doctors where we’re from don’t know what Williams syndrome is. I always have to explain what it is every time we go in.”

She learned about the All Children’s WS clinic while perusing the Williams Syndrome Association web site for help, and knew St. Petersburg is where she and Hudson had to come. “I’m glad we found out about this because now I feel we’re getting a thorough check,” she said. “And I feel better, knowing what to do.”

Camila and Dr. Dadlani during lunch break.
Beth, Hudson and other family members savored the chance to mingle with the other parents during a lunch hour in the Children’s Auditorium. In the middle of the room, 7-year-old Camila, who traveled from Miami with mom Iris Linares, playfully checked Dr. Dadlani’s heartbeat with a stethoscope. Another Miami resident, Carmen Jury, expressed her enthusiasm about the help her 9-year-old daughter, Sophia, was receiving.

“It has been a very enlightening because of the education and information that has come from this,” Carmen said. “At each appointment, we’ve been able to learn something new.”

Not far away, Kylie Romero of Jacksonville talked about her difficult initial experience with her baby daughter, Liv. She was diagnosed at birth with a heart murmur and a looseness in her hips, so her doctor ordered a chromosomal test. At the follow-up appointment a month later, the cardiologist came into the room and informed Kylie that Liv had Williams syndrome.

“She was extremely ‘gloom and doom’ about it, and I just said, ‘Well, okay, what is Williams syndrome?’ “ Kylie recounted. “She immediately ticked off things like mental retardation, ‘cocktail personality,’ will never leave home or have to be in assisted living as an adult. We don’t have that cardiologist anymore.”

ACH RN Heather Wilson with baby Liv.
Shaken, she went on the computer to do research and the first one to reach out was Debby Johnson, who told her about how well her son is doing – and about the All Children’s WS clinic. Liv has gotten excellent care at All Children’s since then, and her mother is grateful.

“She’s hit every milestone – all her heart conditions have gone from moderate to mild and the problem with her hips has cleared up,” she said.  “Liv is perfectly healthy right now. She goes to a special needs day care and is thriving. She’s s a superstar.”

And one more WS patient shining with the help of All Children’s.

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