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Searching for hope while living with a rare disease

Rocio Macias was driving when her 4-year-old daughter, Isabella, coughed from the backseat.

“Are you OK?” Rocio asked.

“I’m OK,” Isabella answered with a giggle.

While likely mundane for many parents, this exchange is the stuff dreams are made of for Rocio, the mother of a child with a devastating rare disease.

“She’s doing well – she’s trying to talk a lot more,” Rocio says. “I see things physically too – she doesn’t fall as much as she used to. She doesn’t bang her head much anymore.”

Isabella is in the early stages of a clinical trial at CHOC Children’s that will evaluate a drug intended to treat a rare pediatric disease called MPS IIIA. The condition is a type of Mucopolysaccharidosis, or MPS, a genetic condition that causes physical abnormalities in young children and causes them to lose their neurological development.

Also called Sanfilippo syndrome, its early symptoms can mirror those of autism. Unlike autism, though, the patients don’t improve. Instead, they gradually deteriorate until memories and even basic abilities are lost. Most Sanfilippo patients don’t survive to adulthood.

“You ask, ‘What is that? What can I do? What can be done?’ For this one, there’s no cure. And you just cry,” Rocio says.

But Rocio found a glimmer of hope in the trial, Dr. Cristel Chapel-Crespo, Isabella’s CHOC metabolic specialist at CHOC, and Dr. Raymond Wang, also a CHOC metabolic specialist who is the director of CHOC’s Foundation of Caring Lysosomal Storage Disorder Program.

Joining the clinical trial

Phases II and III of the trial are being conducted by Lysogene, the French company that developed the experimental treatment. CHOC is one of four U.S. hospitals taking part, with several other sites in Europe.

Those patients are hard to find. In his decade of researching MPS and seeing patients, Dr. Wang estimates he’s only diagnosed 10 cases. However, given the deep heartbreak that Sanfilippo syndrome can cause with parents of affected children, Dr. Wang sought out Lysogene as a partner to provide families with access to clinical trials – and hope.

Lysogene, in turn, sought out Dr. Wang for the trial because of his expertise in researching and diagnosing the various MPS types. If the Lysogene drug is eventually approved by the U.S. Food & Drug Administration, CHOC should become the first facility on the West Coast to be able to both diagnose the disease and administer the drug, which is surgically inserted into brain tissue.

For Isabella, participating in the study meant traveling to New York, where she received the medication in June 2019.

Following a seven-hour surgery, Isabella spent a night in the hospital’s intensive care unit. The family stayed in New York for another week of tests, and then returned home.

After one more check-up in New York, the family began follow-up treatment in December much closer to home at CHOC with Drs. Chapel-Crespo and Wang, and will continue to do so every three months for five years.

“She has no after-effects at all from the surgery, is happy and doing well,” Dr. Wang says, adding that Isabella will continue to take anti-rejection medication throughout the first year of the study.

“We are hoping to prevent regression at the least, and ideally see developmental progression,” he says.

The effects of Sanfilippo

MPS IIIA, or Sanfilippo, is a subtype of MPS that affects about one in every 100,000 children. Overall, seven different types of MPS have identified: I, II, III, IV, VI, VII and IX, not counting the subtypes within them.

MPS is an inherited disease. All the types are collectively known as “lysosomal storage diseases.” Lysosomes are compartments in cells that break down molecules and remove waste products.

Normally, different enzymes in the lysosomes break down complex sugars called glycosaminoglycans, also known as mucopolysaccharides. In MPS, glycosaminoglycans are not broken down because of a deficiency in one of those lysosomal enzymes. As a result, the glycosaminoglycans accumulate in the cells and cause tissue damage.

Physical symptoms can include thickening of the lips and skin, enlarged liver and spleen, hernias, recurring ear infections, joint pain and stiffness, and shortness of stature. With Sanfilippo, which attacks brain cells, cognitive impairment could include delayed speech. Since by itself a speech delay isn’t uncommon in children, Sanfilippo’s initial symptoms only add to the confusion for families.

In the first two to three years of a patient’s life, “there might not be any symptoms,” Dr. Wang says. “Nobody ever thinks ‘My kid has Sanfilippo,’ and few doctors think about it. But it starts to be around age 3, 4, 5, when hyperactivity starts, and there are questions of autism, and usually what happens is a physician recognizes that kids with Sanfilippo look a little different.”

A mother’s instinct

Rocio began noticing some symptoms in Isabella when the toddler was about 2. Rocio thought she could explain Isabella’s unsteady walk and slow speech, but that her daughter wouldn’t outstretch her arms to catch herself when she stumbled was especially alarming.

“As a parent, you start looking around at the other kids in the class and think, ‘Is there where the other kids are too?’” Rocio said. “I never looked at it like something was wrong – I just thought she was delayed.”

As Rocio pursued speech and physical therapy for Isabella, CHOC otolaryngologist Dr. Kevin Huoh was separately evaluating Isabella for her snoring. After observing some of Isabella’s physical features, Dr. Huoh quickly referred the family to CHOC’s genetics team. Subsequent genetic testing revealed her condition.

Learning the diagnosis was devastating for Rocio. After taking the call in an empty office at work and bursting into tears, she needed to leave early for the day, she recalls. With her husband in an all-day training, Rocio was forced to deliver the news by text message.

The medication’s hope

The news was made especially frightening when the couple learned there was no treatment for Sanfilippo.

While enzyme-replacement therapy has successfully treated some types of MPS, it only works if the disease is not located in the brain. Unfortunately, the life-threatening symptoms of Sanfilippo are caused by effects of the disease in the nervous system.

Inside the brains of children with Sanfilippo syndrome, a waste product called heparan sulfate builds up, causing nerve damage and, over time, the death of nerve cells.

The Lysogene drug includes a package called a “vector.” It contains genetic instructions that enable treated nerve cells to make the missing enzyme, called sulfo-hydrolase, which clears out the waste product.

“Short-term, you can measure things like, is the body producing sulfo-hydrolase enzyme; is there a reduction in heparan sulfate?” Dr. Wang says. “But the more relevant question is, is the investigational treatment actually helping these children? What parents really care about is, Is it helping my child’s neurologic function? Is my child not regressing? Is my child progressing normally? If there were lost developmental milestones, is my child maybe even gaining them back?”

Moving forward

While Rocio has already anecdotally noticed some improvements in Isabella, time will tell whether the drug is truly effective. In the meantime, the family has found additional support through the rare disease community. They attended a local event for families impacted by MPS. Isabella was the only child with MPS IIIA.

They’ve also found some solace online, though Rocio participates only in measured doses.

“It’s hard. Sometimes I tell my husband I don’t want to follow the groups anymore,” she says. “People post when someone passes away – and it seems like that happens every day. The other day it was an 8-year-old, and you think, ’Shoot, Isabella is 4,’ and that’s heartbreaking. But then someone posts about a 27-year-old and that gives me hope.”

Rocio also continues to take her family’s journey one day at time – after all, she’s adjusting a new reality of parenting a medically complex 4-year-old as well as a 2-year-old daughter, who is not a carrier for Sanfilippo.

“I went from having a life to having a totally different life,” she says.

Learn more about research at CHOC

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Quinn goes home, thanks to CHOC’s cardiac high-risk interstage program

Like most parents, when Erin and Ryan were pregnant with their first child, it was an exciting and precious time. However, for them, they knew this would be a high-risk process since Erin has Type 1 diabetes.

Erin was seen regularly at University of California, Irvine (UCI) Medical Center for checkups on her and the baby because of her T1D. At week 20, Erin went in for an anatomy scan of the baby. This is when the baby is examined via ultrasound to make sure everything is growing and developing as it should. During an anatomy scan, clinicians also pay close attention to the baby’s heart.

Doctors noticed a few issues with the baby’s heart.  Erin and Ryan were referred to Dr. Nafiz Kiciman, a pediatric cardiologist at CHOC who specializes in critically ill newborns. Dr. Kiciman was able to confirm the unborn baby’s diagnosis: Tetralogy of Fallot (TOF) with pulmonary atresia (PA).

“I was very emotional hearing that my sweet little baby girl had been diagnosed with a major heart condition and would need multiple surgeries throughout her life,” says Erin. “I cried many tears thinking about a small baby going through so much.”

TOF is a congenital heart defect made up of four abnormalities. Since Quinn has a severe form that includes pulmonary atresia, she has five abnormalities. These include:

  • a hole in the wall that separates the lower right and left heart chambers
  • her aorta had been moved to the right
  • abnormal pulmonary arteries
  • a thickened right ventricle, and
  • no pulmonary valve to connect the right ventricle to the lungs.

Currently, the only treatment is open-heart surgery.

“Knowing surgery was going to be in the future was not easy, but I was also the only one who could feel her movements, and I knew she was strong,” says Erin.

Quinn’s journey in a brand-new world

Quinn was born on April 11, 2019 at UCI Medical Center, weighing 4 pounds and 4 ounces. Doctors determined she needed a higher level of care due to her heart condition, so when Quinn was four days old, she was transferred to CHOC Children’s Hospital’s neonatal intensive care unit (NICU).

“We had so many emotions as we left UCI without our baby and headed to CHOC,” Erin says. “We were thankful that Dr. Kiciman would be one of the many cardiologists that would be caring for Quinn. We met the NICU nurses and doctors, which made us feel even more comfortable.”

While in the NICU, Quinn’s job was to grow big enough to undergo her first heart surgery. As for Erin and Ryan, they were navigating learning how to be first time parents, with the added complexity of doing so for a child in critical care.

“We relied on the nurses and doctors to help us navigate through the first few weeks,” Erin says. “We had to learn how to change her diaper while she had various cords attached to her and hold her while she was connected to oxygen machines. We were thrown into parenthood really fast.”

Quinn gained 1 pound and 10 ounces in a month but she still wasn’t ready or big enough for a full heart repair. However, something needed be done to help the blood flow to her lungs. Dr. Richard Gates, director of cardiothoracic surgery at CHOC, performed a shunt operation to place a small tube between a body artery and the pulmonary artery.

quinn-half-birthday
Quinn celebrated her half birthday at CHOC.

After surgery, Quinn was moved to the cardiovascular intensive care unit (CVICU) at CHOC for six weeks. In the CVICU, she worked on breathing on her own and feeding with the help of her care team and a speech language pathologist (SLP).

SLPs work across CHOC’s healthcare system with a variety of patients. In Quinn’s case, they taught her skills and exercises to help her explore the movement and muscles of their mouths.

In the time Quinn worked with her SLP, she quickly developed good sucking skills, while still working on refining her swallowing skills. While she perfected these skills, Quinn’s medical team decided she would benefit from a gastrostomy tube, — or G-tube— a feeding tube placed through her abdomen so she could receive nutrition directly to her stomach.

The interstage

After 77 days at CHOC, Quinn finally got to go home through the cardiac high-risk interstage program.

This new home-monitoring program at CHOC was designed for babies with complex congenital heart disease. Families go home with a scale and pulse oximeter to record heartrate, pulse, weight and feeding. That information is then reported regularly to the child’s care team. The goal of this program is to provide families with an easy and reliable connection to their care team during the “interstage period”— the time between a baby’s first and second surgery.

“The interstage period is a critical time during which babies with certain heart conditions, like Quinn, are very fragile,” says Elizabeth Miller, a nurse practitioner dedicated to the interstage program. “Monitoring and evaluating the baby’s information on a regular basis has been proven to help early recognition of a possible serious problem and save lives.”

Future plans for the program include sending families home with iPads and a unique app that will allow families to record data, capture video and photos, and send message to care team members.

With the program, Quinn was also scheduled for biweekly visits to her cardiologists and a standard cardiac catheterization to evaluate her heart and plan for her future heart repair. During this procedure, Quinn’s heart team discovered a narrowing in a valve that needed emergent care.

The next morning, Quinn underwent surgery with Dr. Gates.  This complete heart repair would close the hole in her heart and widen her pulmonary arteries.

Road to recovery

Quinn’s recovery was tough and long. Her lungs were fragile, and she also developed necrotizing enterocolitis a serious intestinal disease common among premature babies.

Since Quinn was fragile during her recovery, Erin and Ryan were unable to hold her for the first month after surgery.

quinn-mom-after-surgery
Erin holding Quinn for the first time after surgery.

Though this time, Quinn’s family found comfort in being back at a place they already knew.

“We felt so comfortable going back to our ‘home’ in the CVICU,” Erin says. “The nurses, doctors and staff remembered our family and Quinn. During our time, Quinn showed that they will never forget her and got the nickname PQ, short for Princess Quinn.”

For the next seven weeks, Quinn made “baby toes in the right direction” — a saying from Erin on Quinn’s small but mighty progress, and a nod to her tiny feet. She developed a strong and feisty personality, and she wanted to do things in her own way and on her own terms. It was because of this that Erin and Ryan knew Quinn could get through anything.

Quinn today

Quinn is now at home and Erin and Ryan are soaking in the time they get to spend learning about their baby girl in a home setting. They have also seen her develop a love for watching sports—especially hockey, baseball and football.

quinn-holiday-home
Quinn celebrating the Fourth of July at home

Quinn is regularly followed by a variety of specialties at CHOC including cardiology, gastroenterology, pulmonology and hematology at CHOC. She will also need minor procedures, and another open-heart surgery when she’s older to replace the valve.

“Her journey is not over yet, but we’re equipped to handle what comes next for her medically,” Elizabeth says. “Quinn’s whole team here at CHOC has loved seeing her grow into the baby she was always meant to be.”

Learn more about the Heart Institute at CHOC Children's

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Teen advisers offer tips on avoiding peer pressure to vape

The dramatic rise in vaping among teens is alarming to pediatricians and parents alike. It’s common for teens’ first exposure to vaping to come as an effect of peer pressure, says Dr. Katherine Williamson, a CHOC Children’s pediatrician.

“The rate at which vaping has increased over the last several years see is really scary for me to see as a pediatrician,” Williamson says.

CHOC Children’s teen advisers, a group of teens active in their community, committed to academic success, and who support CHOC’s mission, offer their advice for teens struggling to deal with peer pressure to vape.

  • It’s just not worth it – “My freshman year of high school, I was offered the opportunity vape more than 10 times. In these situations, it’s your choice how to respond. Vaping is simply not worth it. Do not be guilted or tempted by those around you.” – Andei, age 16
  • Consider the long-term consequences – “You may not feel it at first, but as you vape, your lungs are being damaged. You could end up in the hospital as a result of vaping. Turn down the offer to vape and walk away from the situation.” – Sam, age 12
  • Offer a valid excuse – “My parents always told me that to get out of a peer pressure situation, I could tell a white lie and blame it on them. I could say something like, “My parents are super strict and will drug test me, so I can’t. Or, I remove myself from situations by saying I have to get to volleyball practice or have another commitment.” – Noah, age 17
  • Complications of addiction – “Teens endure tremendous social pressure, which makes it easier for teens to fall victim to vaping. Avoiding peer pressure to vape might not be an easy task, but it’s far easier than having to withdraw from addiction.” – Christian, age 17
  • Health consequences —
    • “Always think about the serious health consequences of vaping. It’s very addictive, causes breathing difficulties and increases your risk of cancer or even death.” – Lauren, age 15
    • “Although it is marketed as a safer alternative to cigarettes, they contain addictive chemicals. It’s a newer trend, and some teens may not be as educated on the dangers of vaping.” – Layla, age 14
    • “Vaping can change your life in an unhealthy way. Not only can you damage your lungs, but it can impact your life in others way, too. You could be punished by your school and parents, as well.” — Carina, age 15
    • “Although the side effects may
  • Re-evaluate your friend group – “Walk away from the situation and stop hanging out with friends who are pressuring you. That means they don’t care about you. Find new friends who do.” –Trevor, age 15
  • Social/school consequences – “Schools take vaping seriously. They can take away your ability to participate in activities, sports or dances.” – Jorian, age 15

Harmful effects of vaping

As more teens develop an addiction to vaping nicotine or CBD oil, Williamson has treated more and more teens with lung problems, agitation and anxiety.

Vaping hasn’t been around long enough for us to know its long-term effects on the body. But health experts are reporting serious lung damage in people who vape, including some deaths.

E-cigarettes also:

  • Irritate the lungs
  • May cause serious lung damage and even death
  • Can lead to smoking cigarettes and other forms of tobacco use

Some people use e-cigarettes to vape marijuana, THC oil and other dangerous chemicals. Besides irritating the lungs, these drugs also affect how someone thinks, acts and feels.

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A registered dietitian’s tips for a healthy heart

By Carol Peng, a registered dietitian at CHOC Children’s

Increasing healthy lifestyle and awareness is a common theme in New Year’s resolutions. February is American Heart Month, and it’s a great opportunity month to focus on this resolution. Focusing on adopting healthy lifestyles can help prevent cardiovascular disease.

Here are six tips for heart healthy eating:

  1. Watch for portions and serving sizes –Using a smaller plate or bowl during meal or snack time can help limit food intake. Measuring cups and spoons can help us be more precise and intentional about the portions we are consuming.
  2. Increase fruits and vegetable intake –Fruits and vegetable are loaded with antioxidants, essential vitamins and minerals that truly nourish our bodies. They are also full of fiber to prolong the feeling of fullness.  
  3. Choose whole grain for more fiber – Fiber is proven to decrease bad cholesterol and prevent heart disease. If you have not already, perhaps this can be the year to try out some new grains like quinoa, barley, bulgur, farro or couscous. People with Celiac disease or gluten sensitivity have to be careful with wheat. Gluten-free products are recommended.
  4. Choose high-quality proteins – Good protein sources include skinless poultry, fish, eggs, legumes, nuts and There are biophysical and environmental benefits to choosing plant-based protein.
  5. Know your fats – Eliminate trans fats from your diet because they are known to increase bad cholesterol and put you at risk for cardiovascular disease. Trans fats are commonly found in fried foods and baked goods. sa Most trans fats come from processed hydrogenated fats, so avoid food products with ingredients such as partially hydrogenated oils. Choose good fats like monounsaturated fats such as olive oil or canola oil, or polyunsaturated fats that are, found in certain fish, avocados, nuts and Be mindful of how much fat is contributing to your daily total calorie intake.
  6. Limit sodium intake – The American Heart Association recommends less than one teaspoon of salt, 2300 mg of sodium in general, and ideally less than 1500 mg of sodium per day for adults. Sodium intake is associated with high blood pressure. To cut down on sodium intake, avoiding canned foods, frozen dinners and processed foods. Cook with fresh or dried herbs as a healthier alternative.

This month, we have the excitement of several events that may call for social gathering and planning. Here are some easy heart healthy snack ideas for your Superbowl Sunday and Oscar viewing parties:

  1. Crackerwiches – For these mini sandwiches with crackers, add a little bit of peanut butter and banana, or mustard with low-sodium canned tuna, on whole grain crackers.
  2. Yogurt sundae – Dress up a cup of low-fat yogurt (without added sugar) by topping it with crushed whole-wheat cereal, blueberries, strawberries or unsalted sunflower seeds.
  3. Dark chocolate duo – Dip half a banana in melted dark chocolate, then cool it in the refrigerator. Dark chocolate covered almonds is another good choice.
  4. Edamame with lemon – They are naturally low in sodium and easy to cook.
  5. Air pop popcorn – Air pop your own popcorn and toss it in honey and cinnamon for a sweet flavor or drizzle a little butter or olive oil and grated parmesan cheese for a savory flavor.
  6. Hummus dip – A plate with different vegetable and hummus.

As we settle into the new year, it is tempting to reach for those heart-shaped chocolates sold everywhere in beautiful bright red boxes around Valentine’s Day. While it does not hurt to indulge and reward ourselves once a while after a long day, it is important to maintain and sustain a healthy lifestyle and diet as we juggle many different responsibilities and roles.

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How to help children cope with grief

It’s difficult for adults to make sense of a tragedy or unexpected death, so consider how difficult it can be for children to do the same. Even events that occur far away – or the unexpected death of a celebrity – can trigger a stress response in children. Here are some ways parents can help.

Monitor your child’s news and social media intake and keep their routine and schedule as normal as possible. If your child is prone to anxiety, reassure them of their safety and ensure they are not dwelling on the tragedy.

Honor your child’s connection to the deceased – even if he or she didn’t know them personally. Talk about why this person was important to them, and the qualities and values that made this person feel special to them. Ask what your child wants to do to pay their respects or process the tragedy. This can be as simple as saying a prayer for the individuals left behind or donating to an organization important to the deceased.

Parents should also consider the five E’s of helping a child navigate emotions that come with a traumatic event:

Explore what your child already knows in a gentle and calm manner. You can start with a neutral question inquiring about how their school day was.

Explain what has happened in a way that your child can understand based on their age.

  • Address any misinformation your child might have picked up at school. Help them understand that although a sad and/or scary thing did happen, adults work hard to keep children safe daily.
  • Limit information you provide to your child to the questions they ask you. This will help avoid overwhelming them with information they may not already have been exposed to.
  • Provide examples of ways you and others in your community keep your child safe every day.

Express to your child that feelings are normal, and it is OK to feel sad, mad or angry when a tragic event occurs. Remember to reduce media exposure after a traumatic event, as repeated exposure to the event has been associated with psychological distress and intensifying already heightened emotions.

Emotionally model for your child healthy expression of feelings because children take their cues from their parents. Describe how you cope with your distressing emotions (e.g., “When I feel sad, I talk about it with someone who makes me feel safe or I take three deep breaths.”).

Ensure stability by continuing to adhere to your child’s daily routine. This will provide them with a sense of reassurance and safety during a chaotic time. Engaging in a daily routine is not meant to ignore what has happened, rather to continue to provide the child with structure, stability and predictability.

Additional resources

In the wake of a tragic event, it can be difficult for parents to find the words to talk with children and teens. Below are resources and suggestions for parents on how to discuss difficult topics with their children:

When to get help

Grief and shock are common after a loss or community tragedy. When this lasts longer than two to four weeks and is constant and begins to affect everyday life (schoolwork, interactions with family and friends), then therapy might be appropriate.

If you are struggling to help your child process a traumatic event, or if you feel your child could benefit from additional support, ask your pediatrician for a referral to a pediatric psychologist or psychiatrist.

Below are a few resources in Orange County with expertise in children:

Stay Informed about Mental Health

CHOC Children’s has made the commitment to take a leadership role in meeting the need for more mental health services in Orange County. Sign up today to keep informed about this important initiative and to receive tips and education from mental health experts.

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