Patient Stories

SCID-X1 (Argentina) - International Health Services - Boston Children's Hospital

Seated in an exam room on the sixth floor of Boston Children’s Hospital, Sung-Yun Pai, MD, speaks mother-to-mother—not doctor to patient’s mother—with Marcela Caceres, who has just asked whether she should take extra precautions if her 4-year-old son Agustin is exposed to chickenpox. The answer is no. “I’m a mother too, and a good mother also knows when to back off,” Pai tells her. “It’s important for him to have a normal life.”

“It’s hard for me to really accept that that’s the case,” Caceres says, “but I’m working on it.”

If Caceres has trouble shedding her instinct to over-protect, it’s for good reason. Agustin was born with X-linked severe combined immune deficiency (SCID-X1)—“bubble boy” disease—and it can be difficult for Caceres to believe that the gene therapy Agustin had four years ago has cured him of the illness that killed her first-born child, Ivan, in 1999 at the age of 5 months. The Caceres family has come to Dana-Farber/Boston Children’s Cancer and Blood Disorders Center from their home in Buenos Aires for Agustin’s annual post-treatment checkup, which is conducted with the aid of an interpreter.

Boys with SCID-X1 have no functioning immune system because their bodies fail to produce T-cells, the white blood cells that are critical for fighting disease and infection. Marcela and Alberto Caceres’s second child, 8-year-old Jeremias, was tested at birth and did not have the disease, but Agustin, also tested at birth, did. For three months, he lived at home in isolation to protect him from infection. His parents wore sterile hospital garb—gown, gloves and mask—whenever they interacted with him, and they kept the two brothers apart lest Jeremias be carrying a cold or other illness that could be life-threatening to Agustin. Left untreated, boys with SCID-X1 usually die before their first birthday.

Jeremias proved not to be a match for a stem cell transplant, the conventional treatment, and, likewise, a search of bone marrow registries did not identify a fully matched unrelated donor. In October 2010, the family traveled to Boston so Agustin could participate in a gene therapy trial for SCID-X1 that uses a specially created viral “vector” to deliver the corrective gene through a transfusion.

The trial is designed to address the serious problems that surfaced in earlier European trials when one-quarter of patients developed treatment-related leukemia. According to an article in the New England Journal of Medicine, early results—which include Agustin’s progress—indicate that the redesigned vector is as effective as the original one and also appears to be safer. It does not turn on the cancer-promoting genes that the earlier vector sometimes activated. As required by the federal Food and Drug Administration, researchers will follow Agustin and other children on the clinical trial for 15 years.

At Agustin’s four-year checkup, Pai tells the child’s parents that his T-cell count is normal. She and Agustin’s parents discuss plans to try to wean the child from the monthly intravenous infusions of immunoglobulins to boost his resistance to infection. Mostly, however, the visit seems more like a typical pediatric checkup than follow-up for a rare, life-threatening illness as Pai assures Agustin’s parents that their questions about his occasional cough and tendency to tiptoe are ordinary concerns.

“My plan,” Pai tells them, “is when he gets married, I need to be invited.”

“We are always going to be in touch with you,” Marcela Caceres replies. “This is also your son.”

-Irene Sege

Sickle Cell (Bermuda) - International Health Services - Boston Children's Hospital

Calvin Steede, who lives in Bermuda, will never forget the day in 2011 when he saw the movie “Winnie the Pooh” with his mother and sister. The film ended, and suddenly the boy who likes to draw and play soccer couldn’t put on his backpack. His arms had stopped working. He couldn’t stand, and soon he couldn’t talk.

Calvin, now 11, had suffered a minor stroke, a complication of sickle cell disease and the first step of a journey that would take him to Dana-Farber/Boston Children’s Cancer and Blood Disorders Center for minimally invasive surgery to protect his brain from future strokes.

Sickle cell disease

Sickle cell disease is an inherited genetic disorder in which red blood cells become sickle-shaped. Unlike healthy, round red blood cells, the sickled cells get stuck traveling through blood vessels, which causes blockages that can lead to pain and organ damage—and stroke, when blood flow to the brain is blocked.

Calvin also developed moyamoya, another potential complication of sickle cell disease in which the body forms fragile, wispy vessels in the brain to bypass a larger, blocked artery. The term moyamoya is Japanese for “puff of smoke,” which is what images of the new, tiny blood vessels resemble. Left untreated, patients with moyamoya, whether from sickle cell disease or other conditions, are at high risk of recurrent stroke or death. The moyamoya disease affects the entire length of the primary blood vessel, often very deep in the brain, so operating directly on it is not possible.

Moyamoya surgery

Enter Dr. R. Michael Scott and his protégé Dr. Edward Smith, neurosurgeons at Boston Children’s Hospital. In the late 1980s, Scott developed a pioneering surgical technique for moyamoya that dramatically reduces the risk of brain damage.

Taking a blood vessel from the blood-rich scalp, the surgeon makes a small opening in the skull and diverts the scalp vessel to the surface of the patient’s brain. Where Japanese neurosurgeons had simply placed the rerouted vein on the brain, Scott’s innovation was to attach it. From there, nature does its work, and the sturdier, relocated blood vessel gradually takes over from the moyamoya. Smith compares it to routing a new pipe through a window rather than destroying interior walls to unclog the blocked pipe inside.

Calvin’s surgery was originally scheduled for January 2012, but an angiogram showed the single area of narrowing thought to be early-stage moyamoya had improved.

By 2014, it had progressed, on both sides this time, and in May 2014, Calvin had moyamoya surgery. “Once Dr. Smith explained how dire the situation was, leaving it alone was not an option,” says Gina Steede, Calvin’s mother.

“If you take your average kid with sickle cell disease, there’s about a 10 percent chance he’ll have a first stroke by the time he leaves pediatric care,” says Dr. Matthew Heeney, clinical director of the Blood Disorders Center at Dana-Farber/Boston Children’s. “Once a child with sickle cell disease has a first stroke, regular blood transfusions dramatically reduce the risk of a second stroke, but the child who also has untreated moyamoya is roughly twice as likely to suffer a second stroke, even with regular transfusions.”

The 5 percent rate of post-surgical complications for patients with sickle cell disease, says Smith, is slightly higher than the 4 percent rate for other moyamoya patients. Smith and Scott worked with Heeney and his hematology colleagues to develop protocols specific to moyamoya in patients with sickle cell disease that are now published guidelines. “We really are a multidisciplinary team managing moyamoya for a very fragile population,” Smith says.

Using an angiogram or special MRI (magnetic resonance image), radiologists confirm the existence of the moyamoya and also determine when there may be a need to operate on asymptomatic patients. Sickle cell patients are hydrated before surgery to improve blood flow. They also receive a transfusion of matched healthy blood within a week before the operation. After surgery, hematologists help manage fluids and take care of patients’ lungs so they don’t get acute chest syndrome, a complication of sickle cell disease characterized by coughing, fever and pain.

Calvin gets monthly blood transfusions in Bermuda to prevent future strokes and decrease the likelihood that he’ll suffer a debilitating pain crisis. He takes aspirin daily to improve his blood flow, stays well hydrated, and returns to Dana-Farber/Boston Children’s for yearly checkups and tests.

Until recently, Calvin’s hair covered the surgical scars on each side of his head. This spring, after his barber suggested he display the scars with pride, Calvin had his hair shorn short. One scar resembles a lightning bolt.

“People don’t say I’m weird or anything, because they like me,” Calvin says. “My scars look pretty nice, and people don’t judge me by them. It makes me feel good to have my scars and be able to talk about it.”

Pseudo obstruction (US) - International Health Services - Boston Children's Hospital

Annabel’s journey: The story behind the movie “Miracles from Heaven”

Dr. Nurko; Miracles from Heaven

Eight-year-old Annabel Beam was on a quest to find the perfect gift. During a 2010 trip from her Texas home to Boston Children’s Hospital, she asked her Mom to stop at the airport gift shop before boarding the plane.

Annabel perused the aisles, examining each item in the hope of finding a token of appreciation for her gastroenterologist, Dr. Samuel Nurko, a native of Mexico and director of the Motility and Functional Gastrointestinal Disorders Center.

Annabel spotted a cuddly teddy bear wearing blue doctors’ scrubs. She reached for the bear, squeezed its arm, and a musical rendition of “Doctor, Doctor, give me the news…” began to play.

Annabel’s grin spread from ear to ear. “I want to give this to Dr. Nurko, Mommy,” said Annabel.

The teddy bear symbolized the kindness and hope Nurko shared with Annabel while she managed the rare and chronic gastrointestinal condition pseudo-obstruction. And it remains a symbol of the long-lasting bond between Nurko and his young patient.

“It was a very touching moment,” Nurko says of the day he received the teddy bear. “I keep the bear in my office, and he watches over me.”

This was one of many trips to Boston Children’s to treat Annabel’s chronic and often debilitating condition.

The road to Boston Children’s

When Annabel was 4, she had bouts of distended (swollen) stomach and difficulty eating, and she experienced intense stomach cramping and pain. “[Annabel’s] pain was almost always at a level 10, and on a good day, she was at a level eight,” recalls Annabel’s Mom Christy Beam. “She would live in a fetal position on the sofa with a heating pad on her stomach.”

Annabel was seen by several local doctors and underwent an array of tests including blood work, CT scans and X-rays. She was diagnosed with a variety of illnesses ranging from a lactose intolerance toreflux.

“I always felt bad, and my stomach always hurt,” Annabel recalls. “I remember going out to a restaurant; I would take one bite and would be done because the pain would be so overwhelming.”

By the time she was 5, Annabel had a full-intestinal obstruction that required surgery. Nine days after the surgery, she re-obstructed and required a second surgery.

Time for a second opinion

“After the second surgery, Annabel never got better,” Mom recalls. “So we pursued every doctor in Texas who could possibly figure out what was wrong with her.”

Christy says she can pinpoint the moment the decision was made to bring Annabel to Boston Children’s. “I had a doctor tell me that if her daughter was as sick as Annabel —  and if she had the same problems —  she would have her in the hands of Dr. Sam Nurko,” Christy recalls.

In 2009, Christy, Annabel and her aunt traveled to Boston Children’s for an appointment with Nurko. “Annabel was in a lot of pain when she came to see me,” Nurko recalls. “She had a lot of difficulty tolerating her feedings, was vomiting and had abdominal distention.”Annabel with distended stomach — a symptom of pseudo-obstruction.

Mom says Annabel and Nurko instantly connected. “Annabel trusted him,” Christy says. “He was sweet and funny, and he made her giggle.”

Following a comprehensive examination and Antroduodenal Manometry — a diagnostic test performed in only a few places around the world —  Annabel was diagnosed with pseudo-obstruction. The intestinal disorder is caused by nerve or muscle problems that prevent the intestines from contracting normally to move food, fluid and air through the intestines. “This is a disease where the nerves of the intestines and the muscles don’t work well, and things don’t move,” Nurko explains.

Treating pseudo-obstruction

There is no known cure for pseudo-obstruction. However, patients with intestinal pseudo-obstruction often require nutritional support to prevent malnutrition and weight loss. Medication may also be required to treat and prevent further complications caused by lack of movement of the stomach and intestinal contents.Annabel required nutritional assistance in the form of nasogastric tube (NG) tube. She began treatment with Cisapride, a medication designed to increase motility in the gastrointestinal tract and only prescribed in a few centers throughout the U.S. Annabel’s medication regimen called for her and her family to return to Boston Children’s every six to eight weeks for treatment.

Pseudo-obstruction treatment goal

The goal of treatment, Nurko says, was to prevent complications, stabilize Annabel’s condition, treat her symptoms, improve her quality of life and get her active and functioning again.

“Dr. Nurko didn’t say it was all rainbows and butterflies,” says Christy. “But he showed concern about the seriousness of Annabel’s illness, and he was committed to doing everything he could to give her the best quality of life.”

Annabel and her family traveled to Boston Children’s for nearly three years. She says she found relief from her chronic condition, enjoyed her time with Dr. Nurko and was able visit several Boston attractions during their stay.

“I remember looking forward to going to Boston,” Annabel recalls. “We did the Freedom Trail and the New England Aquarium, and it was always a lot of fun.”

Taking the next steps

In 2012, a Boston Children’s fellow — a motility specialist trained and affiliated with Nurko and the Center for Motility —  began treating Annabel in Austin, Texas.

While in Texas, 10-year-old Annabel had a life-changing experience — an experience Christy chronicled in her faith-based memoir, “Miracles from Heaven.”

The story recounts how a near-death accident changed the course of Annabel’s life. The motion picture, “Miracles from Heaven” stars Mexican actor Eugenio Derbez as Dr. Nurko and American actress Jennifer Garner as Annabel’s mom.

Today, Annabel says she is feeling like a normal kid. She is extremely grateful for Nurko’s expertise and compassion and happy to see her teddy bear has made a new friend.

“I always looked forward to going to Boston Children’s,” Annabel says. “And I am very glad I was cared for by Dr. Nurko.”

-Maureen McCarthy

Urology (Palestine) - International Health Services - Boston Children's Hospital

When Yahya Ahmad Masalma was born in a small village in Palestine, Israeli doctors diagnosed him with posterior urethral valves (PUV), a congenital and chronic condition that compromises the kidneys and urological system. In Yahya’s case, his kidneys and bladder were unable to properly function, causing serious problems, so doctors in Jerusalem began performing regular dialysis — a process that takes the blood out of the body, filters it through a machine and puts back into the body.

But a person — especially a child — can only undergo dialysis for so long before the body begins to revolt. After five years, Yahya’s blood vessels were damaged and failing and he would soon be unable to undergo any more of the life-sustaining treatment.

Without dialysis, Yahya’s condition would worsen quickly, and the only way he could survive was to get a kidney transplant.

Michael Agus, MD, director of Medicine Critical Care Program Boston Children’s Hospital had heard about Yahya’s case through his Israeli colleagues, and made the late William Harmon, MD, aware of the situation. Although the Israeli Hospital has performed kidney transplants in small children before, Yahya had very low blood pressure and they felt that it would not be safe to do so for him. The Israeli physicians could not find a transplant program that was willing to accept Yahya.

“The Israeli doctors had already been doing such great work with Yahya for five years,” says Harmon. “If they thought it was time for him to come here and get a transplant, we knew it was serious.”

Yahya’s father, Ahmad, was evaluated in Israel to see if he could donate his kidney, and was ultimately approved for the transplant. But coming to the United States presented a huge financial challenge to Yahya’s family — who survive only on the Ahmad’s part-time income. Not only would they need to pay for three flights to Boston and for Yahya’s kidney transplant, but Ahmad would need his own operation, and the family would need food, winter clothes and a place to stay for three months.

So Agus, Roberta Hoffman, LICSW, and the International Center at Boston Children’s set out to find a way to make the journey happen. They worked with several charities — Combined Jewish Philanthropies, the Ray Tye Foundation, Roche, and the Palestinian Children’s Relief Fund — to pool their resources and bring Yahya and his parents from Palestine to the United States.

Suddenly, Yahya’s fate had changed. Because of the enormous charitable contributions, the family had their flights paid for, could stay at The Yawkey Family Inn for Yahya’s entire medical recovery, receive necessary winter clothing and eat three meals a day. Boston Children’s and the physicians involved in his care agreed to provide free care for what was not covered by donations, and Yahya received enough medication to prevent rejection until he could return to Palestine. The generosity and hard work of strangers across the ocean would ultimately save his life.

As soon as the family arrived on January 13, 2012, doctors got right to work. After some evaluation at Brigham and Women’s Hospital, Ahmad underwent the operation to donate his kidney on January 26, making a successful transplant into Yahya’s body.

Now three months later, the family has begun adjusting to their lives at home, where Yahya can be cared for by his doctors in Jerusalem.

“His condition is better than it ever has been,” says Harmon. “He has normal kidney function for the first time ever, he’s more energetic and engaging, and he will only continue to improve. He’s one of the nurses’ favorites.”

– Andrea Mooney

Cancer (Colombia) - International Health Services - Boston Children's Hospital

It was Sherlock Holmes’ powers of observation and deduction that made him one of the most legendary detective characters of all time. But even he might have had a hard time figuring out what was happening to Colombian twins Olivia and Miranda Agudelo.

But with a lot of medical detective work, both by their doctors at home in Colombia and here in Boston, and a lot of help from people across Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC), the girls are doing well and helping doctors and researchers understand how to make bone marrow transplants safer.

A medical mystery begins…

Their mystery started in February of last year, when they were a little over a year old. “They were doing extremely well,” says their father, Alvaro Agudelo. “No flus, no colds, eating well, everything.”

But then the first problem cropped up. First, the family’s ophthalmologist in Colombia diagnosed both girls with familial exudative vitreoretinopathy, a rare problem with the blood vessels in the back of the eye.

After treatment both in Colombia and the U.S., the family went back home and back to their lives. But then their ophthalmologist noticed that neither girl’s eyes were healing properly, both also had lots of bruises.

“That’s when we found out that the girls had low blood counts across the board,” Agudelo says. “An MRI at our local hospital then revealed that both girls had small cerebellums and calcium deposits in the brain.”

… and unfolds

Putting the clues together — low blood counts, eye problems, brain anomalies — the doctors came up with a possible diagnosis: dyskeratosis congenita (DC), a rare genetic syndrome affecting many organs. But they weren’t sure; none of them had ever seen a case of DC before.

“Dyskeratosis congenita can be a very confusing disease,” says Suneet Agarwal, MD, PhD, a physician and researcher at DC/CHCC who studies DC. “It’s defined by a combination of three clinical signs: abnormalities in skin pigmentation, oddly shaped fingernails and plaques or discolorations in the mouth.

“The reality,” he continues, “is that patients with DC can present with a whole range of signs and symptoms, in different combinations or at different times from patient to patient. What the majority of patients have in common is mutations in genes related to how cells age.”

At this point, though, the Agudelos knew none of this. “Our doctors told us to send blood samples to labs in the U.S. and U.K. to confirm the diagnosis. In the meantime, we started to research where in the U.S. we might go to get treatment for our daughters.”

Their search eventually led them to Agarwal’s doorstep. “My sister-in-law had studied at Harvard, and her contacts there said to get in touch with Dr. Agarwal,” Alvaro explains. “At the same time, our doctors in Colombia had put us in touch with the U.S. National Institutes of Health, where we were told that there were only four doctors in the country making recent advances in DC. Dr. Agarwal was one of them.”

Nontoxic transplants

The connections were coming together at just the right time. The girls’ low blood counts meant they were experiencing bone marrow failure, which affects about 80 percent of patients with DC before age 30. They were already getting transfusions, and needed hematopoietic stem cell (aka bone marrow) transplants.

But transplants in children with DC can be tricky. “There’s been a general sense over the last decade that children with DC have a harder time than usual with transplant conditioning,” Agarwal says. Conditioning is the process of preparing a patient’s body to accept a stem cell transplant by wiping out their existing stem cells with radiation and chemotherapy. The process comes with a lot of toxicity. “We think it’s because the mutations that cause the disease cause other organ problems that make the toxicity worse.”

Many centers, including DF/CHCC, have developed “reduced intensity” conditioning regimens, ones that rely less on chemotherapy and radiation and more on suppressing patients’ immune responses. They’ve been successful enough that, Agarwal notes, DF/CHCC now uses a reduced intensity regimen as the standard regimen for all patients with bone marrow failure.

When the Agudelos called him, however, Agarwal was on the cusp of launching a clinical trial that took the next step: taking chemotherapy and radiation out of the conditioning process altogether, in theory making conditioning much less nontoxic.

Patients #1 and #2

“Within days of sending Dr. Agarwal blood samples from the twins, he confirmed for us that they had a kind of DC called Revesz syndrome,” says Agudelo. “At this point he told us that they would be good candidates for stem cell transplants and that he was about to open his trial. He was up front about the fact that it might not work, but we wanted the best possible treatment for our daughters. We decided to take the chance to provide a better future and buy more time for them.”

While Agarwal got the final approvals to start the trial, the Agudelos worked with their insurance provider in Colombia — who agreed to cover a large portion of the transplant after finding that DF/CHCC was the only place able to properly care for the twins — and International Health Services at Boston Children’s Hospital — which provides interpreter services and help with accommodations for international patients — to make all the necessary arrangements to come to Boston.

They arrived the first week of July, and started the trial on August 8; Miranda and Olivia were the first two patients. (Agarwal and Leslie Lehmann, MD, clinical director of DF/CHCC’s Stem Cell Transplantation Program, have since treated a third.)

Promising beginnings

Through the conditioning process and all through the transplant, the girls have done amazingly well, just as when they were younger. “They had only a couple of fevers at the start of conditioning, but no major problems,” says Agudelo. “And we had our first sign that good things were happening just 12 days after the transplant.”

“Miranda and Olivia had very, very few problems during conditioning, and their transplanted cells engrafted, or ‘took,’ much more quickly than usual,” says Agarwal, who wants to launch a full service, multidisciplinary clinic for patients with DC. “They’re getting their follow-up care here now, but we were able to discharge them in mid-September — again, very quickly for stem cell transplant patients.”

More than just medicine

The Agudelos know their journey isn’t done yet. The transplant only addresses the twins’ bone marrow failure; it can’t cure their DC, and may not have any effect on the liver and/or lung problems the girls are likely to face down the line.

“A day doesn’t go by that we don’t think about our daughters’ future risks,” Agudelo says. “We want them to have as normal a life as any child can have, and we pray that someone will come up with treatments that could help them and others with DC.

“But for now, we’re just thankful that there was someone out there who was willing to unselfishly donate their bone marrow to give our daughters a better future,” he noted.

Agarwal also knows that Miranda and Olivia have a long road ahead of them. “They’ll need lifelong surveillance and preventive care to make sure their other organs stay healthy,” he says. “But with the transplant we think we’ve taken blood failure and perhaps the risk of blood cancer off the table.”

While Agarwal is working with the family’s doctors in Colombia to transition their overall care back home, Boston will now be a frequent part of the Agudelos’ lives. “We plan to go home around the end of March,” Agudelo explains. “But we’ll be back in Boston every summer for the next 14 years to see how they are doing.”

The family’s reasons for coming back for the long term go beyond just the trial. “The more we spoke with Dr. Agarwal, the more we knew that he really cared about the twins and their health,” Agudelo says. “He and everyone else we have worked with — the nurses, the chaplains, the child life specialists, the staff and families on 6 West [where the Stem Cell Transplantation Program’s inpatient unit is located] — has been very compassionate and supportive both of the girls and of us as parents.”

The experience has also given the family a new direction in life.

“My wife and I have made a promise to God to start a foundation in Colombia to help children and families with terminal or life-threatening illness,” Agudelo says. “We want to help families back home in situations like ours to feel the same kind of support that we’ve felt here, a sense of safety that you feel as soon as you step in the lobby.”

– Tom Ulrich

Orthopedics (Kuwait) - International Health Services - Boston Children's Hospital

When her daughter Minwa Alhamad was just a baby, Dalal Alrefaei noticed something: One of Minwa’s legs wouldn’t bend. The little girl didn’t cry or seem to be in pain, but her knee was hot and swollen. After taking her to a hospital near their home in Kuwait City, doctors told Dalal that Minwa may have had the flu and prescribed ibuprofen.

Symptoms improved slightly over the next few days but when Minwa began to walk, Dalal noticed that her heel didn’t touch the floor. This time, her doctors said it might be something muscular, but didn’t have an answer. Dalal took Minwa to Germany for another diagnosis, but to no avail. After six years of testing, imaging and intense physical therapy, Minwa’s knee was still troublesome, and the doctors in Germany said they had never seen anything like it.

In 2007, Dalal took Minwa to the doctors for stomach problems and vomiting, and her physician immediately noticed the difference between both her knees, ultimately resulting in a diagnosis of rheumatoid arthritis. After three months of fruitless treatment, her doctor sampled the liquid from the swollen knee and referred them to Boston Children’s Hospital.

Finally in Boston, Lyle Micheli, MD, and Samantha Spencer, MD, diagnosed Minwa with an extremely rare vascular malformation that prohibited her knee from working properly. It also caused her extreme pain, all day and night, prohibiting her from playing with friends, walking or going to school.

Surgery showed that the tumor would be hard to remove completely, but that a strong rehabilitation regimen could help Minwa regain control over her daily activities and enjoy life more. “The surgery went well, but Minwa’s recovery has been that much better due to her hard work,” says Micheli. “With her positive outlook and her persistence at physical therapy, she’s getting around much better.”

Minwa’s strong positive attitude has led to a much higher quality of life, and she has learned valuable coping mechanisms at Boston Children’s Pediatric Pain Rehabilitation Center (PPRC) — an intensive interdisciplinary rehabilitation program that serves the needs of children and adolescents with chronic musculoskeletal and neuropathic pain.

On a daily basis, Minwa attends physical therapy and occupational therapy, where she learns to move around more easily and accomplish everyday physical tasks. “It’s helped me a lot,” says Minwa, now 13 years old. “It’s been a long time since I’ve been able to help out at home, and now I can do things like the laundry or lift something.”

Household chores aren’t the only things Minwa can do now. While she typically uses a wheelchair or crutches, she and her mother are enjoying the Boston area, taking day trips to Provincetown and Newport, and Minwa’s favorite — shopping on Newbury Street.

“I try to let her know that even though she has pain, she can still enjoy life. We get out and enjoy the sun, the beach and simple things,” says Dalal. “Even though she is in pain, she is strong enough to find a way to enjoy her time. She can do anything once she sets her mind to it. I’ve encouraged her to be thankful to God for all that she has.”

For most adolescents, being an ocean away from the rest of their family and managing daily chronic pain might make them shy away from social activity, but Minwa is far beyond the normal teenager. She has fostered friendships through her online homeschooling program and built relationships with other girls at the PPRC. “It was so easy to make friends there, and I didn’t have to explain anything because we all knew what the other person was going through,” says Minwa.

Playing board games has been another surprising way to ease her pain and brighten a day. “It really helps, and it’s so fun. Everyone wants to win, and you’re constantly focusing. Some people get that from running; I get it from board games and drawing,” she says.

Drawing — originally suggested by the PPRC — has become more than just a hobby, but a form of therapy for Minwa. “I have always drawn with pencils, but they taught me to draw with color because it shows your mood. If you’re using red, you might be angry. After you’ve completed a picture, you know what you’re experiencing,” she explains.

To further manage her symptoms, Minwa also gets acupuncture. “At first, I was scared of the needles, but it was so relaxing. It just feels like positive energy is everywhere,” she says.

Minwa’s optimism and hard work have helped her tremendously, making this 13-year-old girl become a savvy young woman. “She is so poised, articulate and well-mannered. She asks wise and appropriate questions. Her attitude is mature, and I know she’ll continue to succeed,” says Micheli.

“Because of this, I am stronger, and I can do something unique,” says Minwa. “I have been helped so much that now I know how to feel other people’s pain and help them feel better too. Because I’ve done it for myself.”

– Andrea Mooney

Bladder Exstrophy (Greece) - International Health Services - Boston Children's Hospital

In February 2013, Giorgios Bampos was born in Athens, Greece, with a rare urological condition called bladder exstrophy. Deeply concerned for their son and committed to learning all they could about the condition and its treatment, his parents spoke with medical experts in their home country and extensively researched on the Internet. They quickly determined that Boston Children’s Hospital was the best place for their son to get well.

“The day my son was born was a very difficult day. They told me he had a problem. I did not know what it was. I was very scared at first,” according to Theodos Bampos, the boy’s father.

Soon, Theodos came to understand the complex nature of his son’s problem. Bladder exstrophy is a congenital condition in which a baby is born with the bladder inside-out and exposed on the outside of the body. Affecting only about one in every 40,000 babies born, bladder exstrosphy is treated through surgery early in a baby’s life and then monitored with regular follow-up as the child grows.

One of the main reasons the Bampos family chose Boston Children’s was the hospital’s experience in treating the condition. According to Joseph Borer, MD, director of the hospital’s bladder exstrophy program, Boston Children’s cares for between two and six newborns with bladder exstrophy each year. “This past year, we’ve seen four newborns,” Borer reports. In addition, the hospital’s team takes care of many new patients who have been treated elsewhere and need additional or follow-up treatment.

Another reason the family chose to come to Boston was the hospital’s preferred method of treatment. At present, there are two main ways to approach bladder exstrophy. The “staged approach” requires that the baby undergo three procedures — one to close the bladder, one to close the urethra and one to reconstruct the bladder neck. Initial surgery takes place within days of birth.

Boston Children’s favors the “single stage” or complete primary repair exstrophy (CPRE) approach — the latter of which “incorporates two of the stages of the staged repair performed at the same time,” Borer says. He states that approximately 75 percent of girls and one-third of boys who undergo CPRE do not require bladder neck reconstruction surgery. “The main reason we prefer CPRE is that it can achieve all of the benefits of the staged approach with fewer surgeries,” Borer says.

Also, with CPRE, the initial surgery is performed when the baby is two to three months old, a delay that, Borer says, offers a number of important benefits to patients and families.  “A 2-month-old baby is much better able to tolerate a major reconstructive surgery,” he asserts. What’s more, waiting a few weeks gives time for the family and child to bond, and it allows the family to develop a strategy for caring for the baby and preparing for the initial surgery.

During the period between birth and initial surgery, Borer communicated with the family in Greece through phone and email. Theodos even sent Borer photos of the baby, allowing the doctor to confirm the diagnosis, provide detailed explanations of the condition, as well as care and safety instructions for the family.

Borer explains that “from the baby’s birth until he arrived at Boston Children’s, we outlined the baby’s care, letting them know what to expect.” Rosemary Grant, RN, who helped coordinate Giorgios’ care, says that because the Bampos family was prepared for their journey, “it really helped with Giorgios’ outcome.”

While in Boston, the family received tremendous support both inside and outside the hospital. Theodos explains that the Hellenic Cardiac Fund helped the family in a number of ways, even securing an apartment right next to the hospital. Child life specialists and International Health Services staff at the hospital were also there to assist the family. “During those months between birth and complete repair, we work hard to help families with day care, accommodations, and continuing education,” Grant says.

With all this education, attention and support, it’s not surprising that Giorgios came through his initial eight-hour surgery in great shape. “Through the surgery and the immediate post-operative period, he did very well,” Borer says. Post-surgery, Giorgios needed three to four weeks to heal. Then, Borer says, “he was up and about, out of his cast and moving freely.”

Today, Giorgios is back home in Greece, healthy and well. He’s even gone to the beach, something his parents very much hoped he’d be able to do this summer. His journey, however, is far from over. Like all bladder exstrophy patients, Giorgios will need regular follow-up care throughout his life to address issues such as kidney function, bladder development and possible psychosocial concerns. With this in mind, the Boston Children’s caregivers are still in contact with the Bampos family, and they are working with Giorgios’ team of pediatricians in Greece to monitor his progress and prepare for his return to Boston Children’s.

As for the Bampos family, they are pleased that they brought their boy to Boston. “Now that it’s almost over, I’m relieved; I’m very happy; I’m at peace,” says Theodos. “I also know that I made the best choice.”

– Scott Howe

HLHS (Mexico) - International Health Services - Boston Children's Hospital

Families throughout Mexico travel to the country’s capital for its world-class museums, ancient Aztec ruins, noted restaurants and hospitals. So for Elizabeth and Eduardo Torreblanca, flying 1,000 miles from their home in Cancun to deliver their firstborn in Mexico City was not unusual. But when their baby was born with an unusual condition, the Torreblancas would have to travel much further to give her a chance at life.

Two days after Regina’s birth on November 20, 2010, an echocardiogram or “echo” revealed that she had hypoplastic left heart syndrome (HLHS), a complex congenital heart defect that results in an underdeveloped left side of the heart. The hospital in Mexico City had limited experience with HLHS and gave the Torreblancas little hope. “The doctors told us that her condition is not compatible with life,” says Elizabeth.

The Torreblancas frantically began to research the condition and discovered that in other parts of the world, babies with HLHS can go on to live a full life after undergoing a series of three operations that enable the heart’s fully functioning right ventricle to do the work normally done by two ventricles. Mexico City cardiologist Julio Erdmenger, MD, referred the Torreblancas to Gerald Marx, MD, at Boston Children’s Hospital. Erdmenger had spent a 6-month training period in cardiology under Marx at Boston Children’s. Upon reviewing Regina’s echo and a video of her breathing, Marx told the Torreblancas that if they could get to Boston immediately, his team could help – Regina’s time was running out. The Torreblancas scrambled to get ready for the trip to Boston while keeping vigil over their daughter. The clock was ticking.

Days before their departure, Elizabeth and Eduardo were told that 2-week-old Regina might not make it through the day. “We told the doctors that if she was going to die, we didn’t want her to suffer. That was a very difficult decision that no parent should have to make. The whole day we hugged her and prayed and miraculously by that night she was fine. That’s when we realized that this baby wanted to live, and we said to ourselves, ‘Whatever it takes, we’re going to fight for Regina.'”

Regina arrives in Boston just in time

To their great relief, Regina hung on a little longer and was transported via air ambulance to Boston Children’s on December 15, 2010, 25 days after her birth. “We made it. We didn’t know where we were going to stay even that first night, but that didn’t matter. We got there.”

The Boston Children’s team was ready and waiting. They confirmed Regina had HLHS and the following day, cardiac surgeon Frank Pigula, MD, performed the Norwood procedure on Regina, connecting the right ventricle, via the pulmonary artery, to the native diminutive aorta so that blood could flow from the right ventricle through branches of the aorta and into the body. The 8-hour surgery was a success.

Before surgery, the Torreblancas knew that Boston Children’s had the expertise and advanced technology – those were in fact the reasons they had come – but what they didn’t realize until watching Regina’s medical team in action was how important the quality of her care would be. “The care at Boston Children’s is very integrated. It’s not about “me” the doctor’: it’s about “we the team.” Between everyone, they do the best for the child.

In Boston for the long haul

Regina’s second surgery would place a bi-directional Glenn shunt to control the blood flow between the superior vena cava and the right pulmonary artery. The surgery had to be postponed until Regina’s lungs matured, so Boston Children’s International Center arranged for Elizabeth to stay in hospital housing just four blocks away, where Eduardo joined her when he wasn’t back in Cancun for work. Elizabeth cries when she remembers how fragile she felt during those five months awaiting surgery: I’m so thankful to everyone in the hospital for not only taking care of my daughter but also of me. The nurses would make me eat and rest, and all of their communication helped me relax. They spoiled me.”

Regina’s second surgery was performed in May 2011, and she was released two months later. The family went home to Cancun, but within weeks Regina had developed an arrhythmia or irregular heartbeat and had to return to Boston to have a pacemaker implanted under the skin to regulate her heartbeat. The last surgery, the Fontan operation, connects the inferior vena cava to the pulmonary artery, and again the family had to wait for Regina’s lungs to mature further and for her to gain weight. Almost a year later in July 2012, Pigula performed the Fontan procedure—Regina’s third and final operation.

And finally home

Nineteen months after she was born, Regina went home to Cancun, this time to stay. Regina’s day-to-day cardiac care has been transitioned back to Erdmenger, and she has checkups with Marx once a year in Boston. At the most recent checkup in January 2015, Marx said, “If I met Regina for the first time, and you told me that she had HLHS, I wouldn’t believe you.” She has blossomed into a kind, loving, energetic 4-year- old who runs, swings, slides, swims and plays at the beach. Marx says that Regina’s only limitation is that she can’t play contact sports and should rest when tired. “But the truth is she’s never tired” Elizabeth says. “She never stops!”

Now that Regina is well, Elizabeth helps guide other families with children struggling with heart defects. “So many people heard Regina’s story and reached out to me from Mexico and even from other countries in Latin America like Argentina, Chile, Paraguay and Uruguay. They have a child with HLHS or are pregnant with one and were told there was no hope. There is hope. Regina gave them hope.”

— Jenny Fernandez

Craniosynostosis (Costa Rica) - International Health Services - Boston Children's Hospital

Like many new mothers, Lyana Guzman Gutierrez was exhausted but overjoyed after giving birth to a healthy and beautiful baby boy. But within two weeks, Lyana, who lived near San Jose, Costa Rica, noticed that Marcel’s eyes and other facial features were not aligned. Lyana’s mother urged her to bring Marcel to the pediatrician, who referred her to a local radiologist. The specialist diagnosed Marcel with craniosynostosis, a condition in which the fibrous joints or sutures between the plates of the skull fuse too early during a child’s development. This resulted in asymmetry of Marcel’s head which, if left untreated, could lead to further disfiguration, brain and skull growth issues and possible neurological complications.

Through her research, Lyana had already suspected Marcel had craniosynostosis and started exploring her options. Though the neurosurgeon in Costa Rica was willing to treat Marcel, Lyana explains, “My husband and I were looking for the best doctors and the best place in the world to treat Marcel, and we were going to do whatever it took.”

Lyana’s research led her to Boston Children’s Hospital’s website and a video of Mark Proctor, MD, Neurosurgeon-in-chief. “Something was telling me, you can trust this guy. He’s the one. It was a mother’s instinct.”

All signs lead to Boston

Lyana had very fond memories of studying English in Boston and felt the city must be calling her back. She contacted Boston Children’s International Center and began to rush Marcel’s x-rays and files from Costa Rica to Boston. After reviewing Marcel’s case, Proctor let Lyana know that her son was an ideal candidate for minimally invasive endoscopic surgery, which works best in children who are 3 months old or younger, when the bones are still soft and pliable. The surgery would involve making small incisions in Marcel’s head, and inserting a special camera and tools to remove the fused sutures. Once the sutures were removed, Marcel’s skull would grow normally.

With passports and visas in hand, Lyana and her husband packed up Marcel and their young daughter and boarded a plane for Boston, together with Lyana’s parents. Boston Children’s International Center helped the family settle at The Inn at Longwood Medical just around the corner from the hospital for the duration of their one-month stay in Boston. Lyana remembers, “From the first time we walked into the hospital, everybody was super nice to us, not just the doctors but everyone from the cafeteria staff, the front desk, the nurses, the social workers…they are just amazing people. Everything is anticipated. It’s a perfect system.”

Four days after landing, Proctor operated on Marcel. Baby Marcel got right to breastfeeding immediately after the 30-minute procedure, a sign for Lyana that her son was okay. Because the surgery was minimally invasive and only required a 1-inch incision in his head, Marcel was released from the hospital the day after surgery and was able to recover at the hotel with his family.

Handsome in a helmet

Before flying home, Marcel was fitted with a helmet to protect his head and make sure it kept its shape as it grew. He returned to Boston Children’s several times over the course of the next year for helmet adjustments.

Orthotist Chelsey Anderson worked with Lyana to map out a follow-up plan for helmet adjustments that was convenient for the family. Mother and son would make the daylong trip on Thursday, have checkups on Friday and Saturday and fly back on Sunday, so Lyana could be back at work as a food engineer on Monday. Lyana admits, “The travel was very difficult, but it can be done.” It helped that the family that received Lyana as an English student kindly opened their doors to her again during follow-up visits.

When Marcel graduated to a larger helmet, Lyana—now a big New England Patriots fan—made sure it had a Pats logo on it. She laughs, “Marcel looked way more handsome than Tom Brady. On Marcel’s first birthday, friends and family celebrated with a Patriots-themed party. Football helmets decorated the table alongside Patriots cups, plates and other goodies that Lyana had picked up in Boston. She even made “Marcel’s Team” t-shirts for guests in honor of her son’s journey and the team of physicians, friends, family and co-workers who made it possible.

Not quite two years after his surgery, Marcel is a healthy toddler who rarely stops to rest. He loves to run, climb, jump and ride elevators. Proctor says that Marcel has an “excellent prognosis for a perfectly normal life, with no further need for surgery.” He now needs to return for checkups only once a year until he’s four. “It’s been quite a journey, but we made it,” says Lyana. “And if I had to do it again, I would do it 1,000 times over the same way.”

-Jenny Fernandez

Cancer (Mexico) - International Health Services - Boston Children's Hospital

His symptoms started two years ago while on a family vacation. Thirteen-year-old Manuel Sanchez Paniagua was increasingly tired, and his stomach hurt. His parents thought he must have caught a stomach bug on the trip, so when they got back to their home in Mexico City, they brought Manuel to the doctor. Unfortunately, it wasn’t just a stomach bug.

Physicians told the family that Manuel had a rare cancerous tumor in his liver called hepatoblastoma. When they went in to biopsy the tumor to confirm the diagnosis, they accidentally caused severe internal bleeding, and Manuel ended up in the ICU for a week.

A second opinion

Once he recovered from the biopsy, Manuel began chemotherapy for the tumor. A month later when the tumor had not shrunk as expected, Manuel’s parents decided it was time to get a second opinion, but from where?

“In Mexico, you ask around for the best hospital in the world, and the aunt of the friend of the cousin of the brother knows,” laughs Manuel’s father, Hector Sanchez Castillo. On the advice of the “aunt of the friend of the cousin of his brother,” Hector called Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and spoke to Dr. Carlos Rodriguez-Galindo. “He told us that the tumor was not the one that we thought it was—it was worse. There are bad tumors, and there are really bad tumors. This was one of the really bad ones.” Continue reading “Cancer (Mexico)”