It’s easy to refer those you know considering buying or selling a home. You can go to www.ReferralsHelpKids.com and enter their contact info on line or forward the link to who you know considering a move. You can also call me direct or pass my number on: 213-880-9910.

‘A Rare Disease, But Not For Us’

Two doctors’ research into an obscure field changed this 3-year-old’s life

by Michael Y. Park

It was obvious there was a problem as soon as Oliver was born.

Oliver’s birth in 2015 was already complicated—he was in a breech position and had to be delivered via a cesarean section. But they thought everything was still going to be OK until Oliver was out.
“All is going well until there’s a moment when the doctor says, ‘Hey, hang on, guys, it’s going to be a little longer. He’s stuck,’” says Oliver’s mother, Jennifer. “And then she said, ‘Call Peds,’ and the mood in the room completely shifted. We asked what was going on, and she said, ‘There’s a bump. He’s got a big bump.’”
“Once the team rushed in, that’s when panic set in,” Peter, Oliver’s father, added. “They said it was nothing they had seen before. ‘We’re not sure what it is.’ They threw out words like ‘tumor,’ ‘cyst,’ ‘cancer.’ That’s when we knew we were in trouble.”
What Oliver had was a 12-ounce mass under his arm that prevented it from going lower than a waving position. It was a lymphatic malformation: Instead of the usual clear, straw-colored lymphatic fluid draining through innumerable tiny channels, it was developing into large cysts. The vessels that were supposed to keep the fluid flowing instead ballooned and grew into a liquid-filled sac larger than a grapefruit.
The doctors at the delivery hospital quickly got in touch with the Vascular Anomalies Center at Children’s Hospital Los Angeles, and Oliver’s family met with Dean Anselmo, MD.

Dr. Anselmo is a Pediatric Surgeon and Co-director of the Vascular Anomalies Center at Children’s Hospital Los Angeles, which serves children with malformations of the veins, arteries, and lymphatic channels. He founded the Center, recognizing that the disorder wasn’t widely understood and that a dedicated team of specialists would be better able to devise treatments that could improve the lives of children with these rare, often disfiguring—and sometimes fatal—vascular issues. The specialty is still so obscure and little understood that there isn’t even a dedicated U.S. medical association.

“When I first started in pediatric surgery, there was really almost no data or literature about sclerotherapy for vascular malformations, so a lot of these kids underwent multiple disfiguring surgeries,” he says. “I’m actively hoping for treatments that take me, the surgeon, out of the picture. We’ve changed the paradigm for a lot of these things.”
Initially, the center started with Dr. Anselmo, a plastic surgeon, and an interventional radiologist, but the strides they’ve made in the field have added to the composition of the team, which now also includes a dermatologist, hematologist-oncologist and a number of other professionals who’ve combined their expertise to devise the best ways to help their tiny patients.
“I’ve been fortunate in that I haven’t had to do a tremendous amount of recruitment,” Dr. Anselmo says. “We got Dr. Minnelly Luu, our dermatologist, to join the clinic simply because she has expertise in the area and wanted to be a part of the team.”
The Vascular Anomalies Center has studied the effectiveness of doxycycline, an antibiotic, in treating malformations; published several papers on various surgeries for lymphatic anomalies; and helped shed light on when surgery is and isn’t the best option for kids with the condition. They’ve uncovered a lymphatic disorder that was often mistaken for but distinct from another and come up with a treatment for lymphatic leak syndrome, a defect in the all-encompassing part of the immune system that helps circulate and regenerate various fluids the body needs to survive.
But one of the most successful treatments the Vascular Anomalies team settled on for the majority of lymphatic malformation cases is a multi-stage approach that involves draining the fluid from abnormal vessels and lymphatics and injecting them with a sclerosant, a scarring agent, before having a surgeon treat any excess skin and residual malformation. It turned out to be a much less traumatic and more effective method than going in and cutting out the tissue to treat certain anomalies—like the one Oliver was born with.
“It was on the order of 1 in 5,000 to 10,000 births—this is a rare disease, but not for us,” says Dr. Anselmo. “We’re now one of the largest multidisciplinary vascular clinics in the western United States, and we see kids not just from Southern California but the Middle East, South America, and Asia. These are such rare diseases not really understood by the general medical community that it requires a specialized clinic. It was kind of fortunate that Oliver was born in a city where a vascular anomalies clinic exists. If he were out in some other state where kids don’t have access, then oftentimes these patients are given the wrong diagnosis, and the treatments that are done can cause harm to these kids.”

Oliver’s first and most important procedure took place in February 2016.
“It was the most unbelievable experience—as parents, obviously excruciating for us—but the level of care and kindness literally from that woman down at the Starbucks who smiles at you and knows the pain you’re in, to the woman who cleans the room, to the nurses and doctors,” Jennifer said.
Chadi Zeinati, MD, Director of Interventional Radiology at CHLA, drained the fluid from Oliver’s cyst and then injected the solution that would shrink the large cysts and prevent them from ballooning again. And it worked.
“Since this was such a large malformation, I decided to place a drain in it to help keep it deflated after the sclerosant was injected,” says Dr. Zeinati. “This allowed me to treat the problem multiple times with only one, minimally invasive procedure.”
“Oliver responded remarkably well, and his malformation diminished dramatically,” Dr. Anselmo says, adding that the Center sees about a 95% success rate with sclerotherapy for lymphatic malformations.
But it wasn’t a walk in the park.
“Sclerotherapy is very painful,” Jennifer said. “We were holding Oliver, and he was not having a good day at that point, and this doctor we’d never met comes over and gave me a hug, saying, ‘You looked like you needed a hug.’ That’s the kind of people we met [at Children’s Hospital Los Angeles].”
That kindness later inspired Jennifer to start the #WeAreLucky campaign to raise money for other families of children treated at CHLA.

There were still a couple more treatments to go, including home visits and plastic surgery for his skin, but Oliver is on track to make a complete recovery.
“The point to take home is that these vascular malformations, the type Oliver had, cannot be entirely managed by one type of physician alone,” Dr. Anselmo says. “It needs to be a team effort. And now he’s a happy, healthy little boy with no residual component of this left, and the likelihood of recurrence is exceedingly low.”
“Multidisciplinary clinics are key to running and managing complex disease processes properly,” says Dr. Zeinati. “They speed up the work-up and management of these patients who may have been bounced around for years from one doctor to another. As the treatment algorithm improves in this ever-changing field, genetic mapping of these diseases and research into targeted medical therapy will hopefully be the future.”

Thanksgiving was a little extra special two and a half years later for Drs. Anselmo and Zeinati, not because of the food and company—which were, by all accounts, excellent—but because of how ordinary it was. Specifically, how ordinary the scene was on the living room floor, where their hosts’ children were playing as the adults chatted. And specifically, because of how ordinary that one 3-year-old child—the middle boy—was as he played. You would never have been able to tell that Oliver had been incapable of lowering his arm below his shoulder.
“Oliver’s a cute little guy, really funny,” Dr. Anselmo says. “Like a typical 3-year-old. He’s really into garbage trucks.”
Dr. Anselmo now counts Oliver’s family as close friends, and, as they broke bread, guests went around the table recounting what they felt thankful for. Every one of them said they were thankful for Drs. Anselmo and Zeinati.
“Had it been 20 or 40 years earlier, we’d be writing a much different story about Oliver today,” Peter says. “And I thank my stars every day that these guys exist, that they took an interest in the field, and that they’re able to conduct this research and perform. It wasn’t a lifesaving procedure, but it was life-altering, and the trajectory of my son’s life is not only different but so much better because of what they do.”

How you can help

Refer your friends, neighbors, associates or family members considering making a move:  www.ReferralsHelpKids.com or call Corey 213-880-9910

Article and photos courtesy Children’s Hospital Los Angeles

It’s easy to refer those you know considering buying or selling a home. You can go to www.ReferralsHelpKids.com and enter their contact info online or forward the link to who you know considering a move. You can also call me direct or pass my number on: 213-880-9910.

First, he wiggled his fingers. Then he wiggled his toes. Now, he moves his head from side to side, and he furrows his eyebrows when he doesn’t agree with you.  For 3-year-old Ali Al-Mutawa—and for his parents and family, and his doctors, nurses, and therapists at Children’s Hospital Los Angeles—these seemingly simple movements are nothing short of extraordinary. That’s because Ali was born with spinal muscular atrophy (SMA), an often fatal genetic disorder that causes progressive weakness and muscle wasting. The disease has no cure, and it had no treatment, either—until Dec. 23, 2016. That’s when the Food and Drug Administration approved a drug called nusinersen, the first-ever SMA treatment.   Ali has been undergoing treatment with the drug, which goes by the brand name Spinraza, at CHLA since October 2017. “It’s a game-changer,” says Leigh Ramos-Platt, MD, Ali’s doctor and director of the Multidisciplinary Neuromuscular Clinic at CHLA. “He’s actually gaining function when he should be losing function.”

‘This is the only hope’

When Ali was born in July 2015, he appeared to be perfectly healthy. But his parents—Sarah Al-Musaileekh and Musallam Al-Mutawa—soon had him tested for SMA. They had good reason to be concerned. Although they have two healthy children—daughter Nadirah, 10, and son Aqeel, 5—the couple has lost two other children to SMA. Both of those babies, a girl, Fatima, and a boy, also named Aqeel, died before they were a year old. So when Ali’s SMA test came back positive, his parents were devastated.“I was very sad, just feeling that I will have to go through the same conditions and the same hard things I went through before,” Al-Musaileekh explains.  Sure enough, at 6 months, Ali, who has the most severe form of SMA, began to rapidly lose his ability to swallow, move and even breathe. He was hospitalized and needed a full-time ventilator to breathe and a gastrostomy tube (G-tube) to eat.  He had been in the hospital for nearly a year when Al-Musaileekh spotted the news of nusinersen’s approval while scrolling through her Instagram feed on Christmas Eve in 2016. Her first reaction was elation. But there was a problem. At the time, nusinersen was only available in the U.S., at a few specialized pediatric hospitals. Ali and his family lived half a world away, in Kuwait. The drug was not expected to be available in their country for two years—too late for Ali.

Ali’s doctor encouraged the family to apply for a Kuwaiti government program that would sponsor Ali’s treatment in the U.S. At first, Al-Musaileekh, herself a doctor, hesitated. It’s difficult to transport a critically ill child on a ventilator to the other side of the globe. Would this new drug really work?  Or would she just be putting Ali and her family through more hardship and pain, on top of everything they had already endured?  Still, she and Musallam applied for the program. When they were accepted at Children’s Hospital Los Angeles, the family packed their bags and boarded a plane—embarking on a 13,000-mile journey.  “I told myself, you have nothing to lose,” says Al-Musaileekh. “This is the only hope you have.”

An innovative protocol

Ali arrived at CHLA on Oct. 2, 2017. A week later, he received his first dose of nusinersen. Chadi Zeinati, MD, director of Interventional Radiology at CHLA, carefully injected the medication into Ali’s spinal fluid.  Five days later, Ali wiggled his fingers.  It was his first movement of any kind since SMA symptoms surfaced. His family rejoiced. There was no doubt now they had made the right decision.  “For the first time since Ali’s birth, I felt happy,” says his mom.

While not a cure, nusinersen helps the body make more of a protein called survival motor neuron (SMN). SMN is essential for motor neurons, which control muscle movement. In SMA patients, the gene that normally makes SMN is missing or mutated, causing their motor neurons to die. Nusinersen is not the only part of Ali’s treatment, though. Although most children receive the drug as an outpatient injection, CHLA is one of the few centers in the country to also develop an innovative inpatient treatment protocol. The protocol combines nusinersen injections with intensive physical, occupational, respiratory and speech therapies.  Like Ali, many children on this protocol have made dramatic strides. “We have a couple of patients who are even coming off their ventilators for the entire day, and only need ventilation while sleeping,” Ramos-Platt notes. “It’s remarkable.”About 50 patients, including seven from Kuwait, are being actively treated with nusinersen at CHLA, both as inpatients and outpatients. The program—a collaboration between Neurology, Pulmonology, Rehabilitation, Interventional Radiology, and Orthopaedics—began just three months after the drug’s approval.

“A lot of people from across CHLA worked extremely hard to get this program started quickly so we could make a difference for these kids, no matter where they come from,” Ramos-Platt adds. “This has been a huge team effort.”  For Kuwaiti patients like Ali, a big part of that effort is the Center for Global Health at CHLA, which serves as a vital liaison between families, embassies, and the hospital’s medical team. The Center works closely with each family throughout their stay at CHLA—giving them a primary point of contact and coordinating everything from admissions, meetings with the medical team, translation services, assistance in securing housing and a bank account, and eventually, discharge planning and seamless transfer of care back to their home country.  “It’s not easy to come to a new country, a totally new place, a totally new health system, and families have no relatives or friends here to help them,” explains Anahit Petrosyan, RN, BSN, nurse care manager for the Center for Global Health. “We become their first point of contact, and we advocate for them. It’s a very close relationship.”

From teddy bears to storytime

So far, Ali has received five nusinersen injections, along with intense rehab, and is continuing to improve. He can now flap and turn his hands and flex his feet. He’s even trying to grasp objects with his fingers. Although his tracheostomy tube has prevented him from talking, he makes frequent “baby sounds” to try to communicate. In SMA, cognitive development is completely normal.  That means that inside, Ali is just like any other 3-year-old boy. The things that bring him joy will be familiar to any parent of a young child: Curious George cartoons; a soft, cuddly teddy bear; toys with bright lights and fun sounds; and most of all, the telling of a story.  “He loves stories!” says his mom. “Especially jungle stories and stories with animals.”  Eventually, Ali and his family will be able to go home and receive nusinersen treatment in Kuwait. That date is not yet set. But there’s more hope on the horizon. Research in SMA treatments is ongoing, and a gene therapy currently in clinical trials has shown promise.  “This disease was a death sentence,” Ramos-Platt adds. “To see this progress is really, really exciting.”Ali’s parents want to let other families know that there is hope for children with SMA. They also want to say thank you.  “Everyone at CHLA has been very caring and supportive,” Al-Musaileekh says. “I am just thankful for God’s blessing and for the staff at CHLA, and for having the opportunity to have hope for this devastating condition.”

How you can help

Refer your friends, neighbors, associates or family members considering making a move:  www.ReferralsHelpKids.com or call Corey 213-880-9910

Article courtesy Children’s Hospital Los Angeles