Beating Scleroderma and Actualizing Invention With Grit

Beating Scleroderma and Actualizing Invention With Grit

by | May 13, 2024 | Rheumatology

Previously published in Rite Up, 2024 – Issue 1.

Lino is an inventor who is set on changing the world. “Problems without solutions inspire me to invent,” he says. “I’ve been tinkering with stuff since I was little, but I didn’t realize all this problemsolving was called inventing until I was in the fourth grade.” That was when Lino, of Frisco, invented the String Ring, an adjustable band worn as a ring that protects your finger while playing a stringed instrument. Lino played the cello and wanted to find a way to keep his fingers from blistering without changing the sound. “When you finally solve a problem that is personal to you and that affects a lot of other people, it’s the best feeling in the world,” he says.
 
His mother, Sharon, says that Lino has never met a challenge he does not want to conquer. “Lino is kind, smart and positive, but ‘grit’ is the perfect word for him in everything he does — at school, in sports and through his journey at Scottish Rite,” she says. “How he handled his diagnosis is how he handles his inventions.”

When Lino was 12, his hands began swelling. He could not make a fist, and when it got cold, his hands changed colors, turning red, even purple. His pediatrician referred him to Scottish Rite for Children where he was evaluated by orthopedic hand surgeon Chris Stutz, M.D. Dr. Stutz found nothing wrong with the bones in his hands but suspected a rheumatic condition and referred him to rheumatologist Lorien A. Nassi, M.D.

Dr. Nassi diagnosed Lino with juvenile systemic scleroderma, a rare, chronic autoimmune disease in which the immune system causes inflammation and tissue changes that lead to a tightening and thickening of the skin. The condition affects approximately 3 per 1 million children. There is no cure, and it can progress, affecting the internal organs, such as the heart, lungs and kidneys.

“It felt like an out-of-body experience,” Sharon says. “We walked in with a healthy child, and all of a sudden, we got a diagnosis of something we didn’t understand.” Dr. Nassi and her team, including a psychologist and a child life specialist, consulted with the family, explaining that Lino would need to take a weekly injection. “They told him not to search it on Google,” Sharon says, “that he could take the day off from school, but he was like, ‘No, I have to go to school. I have to give a presentation.’”
 
Lino began taking injections as well as receiving physical and occupational therapy to increase manual dexterity, flexibility and range of motion. “The hardest part was getting the injections and then learning how to administer them myself,” Lino says. “I didn’t like needles, but I got over that, and I feel better now that I’m doing it myself because I feel more in control.”
 
After four years, Dr. Nassi is tapering off the medication. “Lino has had a remarkable trajectory,” she says. “Unfortunately, so often rheumatology diagnoses are only seen as severe, lifelong conditions with significant limitations. I love that Lino shows us that even some of the more serious rheumatologic diagnoses can have great outcomes.”
 
Lino hopes to finish treatment this summer. “I’m lucky they caught it so early, and now it’s better,” he says. “I’m really thankful for that.”
 
“We will be forever grateful to Scottish Rite, Dr. Nassi and Dr. Stutz for diagnosing Lino right away,” Sharon says. “Thanks to them, against many odds, Lino has no moresymptoms and will be medicine-free, an outcome that is as rare as the disease itself.”

But, Lino does not want his success story to be a rarity. He is pursuing becoming a scleroderma advocate who shares his story, creating awareness to raise funds for research, and one day, a cure. He aims to ensure that other kids find the right doctors, get diagnosed early and know that there is hope.

Scleroderma has not stifled Lino’s creativity. By the time he was in eighth grade, he had masterminded four inventions. His most recent — Kinetic Kickz 2.0 — has a patent pending. An improvement on his original Kinetic Kickz, 2.0 is a shoe with a generator built into the sole that collects energy from walking, allowing the wearer to power a device with their shoe. The idea came to him one day after school on the soccer field. He needed to call his mom to come pick him up, but his phone was dead, and he did not have a charger. “I spent months trying to light an LED bulb to prove that I could create enough energy to charge something,” he says.

Invention Convention Worldwide recognized Lino’s genius, awarding him first place in his age group for Kinetic Kickz 2.0 at the 2021 Globals competition presented by Raytheon® Technologies, now RTX. TIME magazine noticed and selected him as a 2021 Kid of the Year finalist.

The 17-year-old continues to improve his inventions as he conceives of new ones. His Scottish Rite journey has inspired him to consider medical-based inventions, and he is debating whether he wants to be a doctor or an engineer. “I’m not sure yet,” Lino says, “but I am sure of one thing. I want to be a world-changer — someone who helps make the world a better place through their actions, or for me, through my inventions.”

Read the full issue.

Share Your Story: Ella Grace’s Extraordinary Journey

Share Your Story: Ella Grace’s Extraordinary Journey

by | Jul 10, 2023 | Rheumatology

After noticing concerning symptoms like hair loss and skin changes on her forehead, 2½-year-old Ella Grace and her mom Brandi were referred to Scottish Rite for Children for help. When they traveled from their home state of Louisiana to visit us, our team quickly diagnosed Ella Grace with localized scleroderma, an inflammatory condition that causes hard or thickened patches of skin on the body, and Parry-Romberg syndrome, a rare condition that causes a slow breakdown of the skin and soft tissues of the face. Both conditions are rheumatological in origin, so our Rheumatology team was able to begin creating a treatment plan for her right away. 

Now at age 5, Ella Grace has come a long way since first becoming our patient. At first, she was absolutely terrified of doctors, hospitals and nurses. Throughout her treatments including weekly injections, infusions multiple times a month and taking many medications a day, our team has loved and nurtured Ella Grace to help her feel cared for and comforted while at Scottish Rite.

Ella Grace’s condition is not common – Parry-Romberg is estimated to affect 1 in 250,000 people in the general population and does not have a known cure. Brandi says that working with Dr. Elizabeth Sloan, Dr. Lorien Nassi and certified family nurse practitioner Stephanie Armendariz has been nothing short of phenomenal. Not only do they have knowledge about this rare disease, but they also care for Ella Grace like she is their own and are always a phone call away.

Our team is doing whatever it takes to get Ella Grace’s disease into remission while providing Ella Grace with the support she needs to cope with her treatment. Two special caregivers of Ella Grace’s are Jill Black, R.N., who made her comfortable and earned her trust from day one and Hope Wheatcroft, R.N., who has been with her every step of the way and takes the time to play or do arts and crafts with Ella Grace during her infusion appointments. 

According to Brandi, when she and Ella Grace come to Scottish Rite, they are always welcomed with open arms and greeted with a smile. Back at home, Ella Grace stays busy with competitive cheerleading and being the best big sister ever to her two younger brothers. We’re amazed by the progress Ella Grace has made in her treatment journey, and we are proud to be a part of her ongoing care! ❤️

Learn more about our Rheumatology services.

DO YOU HAVE A STORY? WE WANT TO HEAR IT! SHARE YOUR STORY WITH US.

What to Expect When Visiting the Rheumatology Clinic

What to Expect When Visiting the Rheumatology Clinic

by | May 12, 2023 | Rheumatology

The Rheumatology team treats children with conditions that can cause inflammation in many different parts of the body. Some of these conditions include juvenile idiopathic arthritis, systemic lupus erythematosus, juvenile dermatomyositis, vasculitis and scleroderma to name a few. The clinic includes a multidisciplinary team who work together to provide the best care. The Rheumatology team includes:
  • Doctors
  • Nurse practitioners
  • Nurses
  • Pediatric psychologists
  • Physical therapists
  • Occupational therapists
  • Child Life specialists
  • Dietitians
  • Clerks and medical assistants
The doctor who staffs the clinic is a board-certified pediatric rheumatologist. This doctor is a pediatrician with special training in treating arthritis and related conditions. You may also meet with fellows who are doctors finishing their specialized training. Services available for patients seen in our Rheumatology Clinic in Dallas and Frisco:
  • Infusion therapy
  • Digital X-ray and advanced imaging
  • Family Services and Child Life specialists
  • Physical and Occupational Therapy
  • Orthotics
  • Lab Services
  • Psychologists
What to expect at your appointment: After checking in, a staff member will greet, weigh and measure the child. Then, you will be escorted to an exam room to meet the care team. What to bring:
  • Although we have disposable shorts available for our patients’ use, your child may feel more comfortable by bringing a pair of their own.
  • Please bring your child’s immunization record.
  • Also, please bring any pertinent medical records, all medications your child is taking in original bottles or a list of your child’s medications.
Who you will see: Prior to meeting the rheumatologist, your child may be seen by a nurse, medical student, resident, fellow or advance practice nurse. The rheumatologist may have a physical therapist, occupational therapist and/or dietitian see your child during the same visit. Please understand that this visit may be lengthy. Sometimes it takes more than one visit to make a final diagnosis. What you need to do We are specialists in pediatric rheumatology. It is very important for you to maintain a relationship with your pediatrician or family practitioner to meet all other health care needs and provide routine care. If you need help finding a doctor in your area, please call our Family Services department at 214-559-7490 or 469-515-7191. Learn more about our Rheumatology department.
Pain-free and Positioned for Speed

Pain-free and Positioned for Speed

by | Apr 24, 2023 | Rheumatology

Published in Rite Up, 2023 – Issue 1. 

“When I’m on the snow, I’m not really thinking, I’m just skiing,” says 15-year-old Banks, of Beaver Creek, Colorado. “I like to go fast!”

Banks is an alpine ski racer. He skis for Ski & Snowboard Club Vail and attends high school at Vail Ski & Snowboard Academy where he trains and competes in races across the nation and internationally. Banks started skiing when he was 4. At age 6, he told his dad he had found his sport. In a typical year, he skis in alpine events, including slalom, giant slalom, super-G and downhill.

When Banks was in 4th grade, he started having hip pain. “I would wake up in pain and not want to go skiing,” he says. “In class, I had pain in my tailbone from sitting in a chair.” Doctors in Denver diagnosed him with juvenile idiopathic arthritis (JIA). Banks’ parents, who are from North Texas, decided to seek a second opinion from Scottish Rite for Children.

At Scottish Rite, rheumatology experts confirmed JIA as well as a diagnosis of bilateral sacroiliitis, an inflammation of the sacroiliac joints that connect the spine to the pelvis. The team prescribed weekly injections, and after getting his medication just right, they were able to manage his condition.

“The last time I had pain was in 5th grade, and I was on crutches,” Banks says. “Now, I almost forget that I have JIA.” His mother, Brandi, says that his care has been handled so well that his diagnosis has not held him back from accomplishing what he wants to do. “I want to make the U.S. Ski Team,” Banks says, “and my ultimate goal is to ski in the World Cup.”

“Without Scottish Rite, I wouldn’t be able to ski,” he says. “They not only care about how you are doing as a patient, they care about your life.”

Read the full issue.

Giving It All – Pushing Through Arthritis One Finish Line at a Time

Giving It All – Pushing Through Arthritis One Finish Line at a Time

by | Sep 14, 2022 | Rheumatology

Cover story previously published in Rite Up, 2021 – Issue 2.
by Hayley Hair
 
Preparing to qualify for the Amateur Athletic Union Junior Olympic Games, the largest national multisport event for youth in the United States, is no small feat. Contenders need intense training and ironclad dedication to be considered among the strongest, fastest, most skilled student athletes competing from around the country.
 
Seventeen-year-old Kelaiah, of Balch Springs, has definitely put in the work. She trains twice a day nearly every day for the 200-meter, the 400-meter and 4 x 100-meter relay races. “I’m training hard every day and giving it my all every time I go out there,” Kelaiah says. “What I have for that day is what I give, and I try to push more if I know I’m not feeling 100%.”
 
Unlike the runners she’s competing against, Kelaiah has been mentally and physically working through a delicate balancing act of becoming one of the best while managing juvenile idiopathic arthritis (JIA).

FINDING OUT ALL ABOUT ARTHRITIS
At 15, Kelaiah was playing basketball, volleyball and running, and when she started having swelling, pain and inflammation around her knee, her pediatrician referred her and her mother, Tanisha, to Scottish Rite’s Rheumatology team.
 
“She had a significantly swollen knee but remained very active,” says Kelaiah’s rheumatologist Katie Stewart, M.D. “Because she’s an athlete, we needed to think about other causes of swelling, more mechanical or injury-related issues.”
 
Arthritis is an autoimmune condition that causes swelling in one or more joints, and after six weeks of persistent joint swelling, it is classified as one of the chronic types of arthritis, including JIA for those 16 and younger. Arthritis can look like other common pediatric problems, so determining the diagnosis is crucial in taming the inflammation and potential damage caused by the condition.
 
“She was one that we were not quite sure of the diagnosis at first, and we were grateful to have great radiology input from our team,” Stewart says. “We work with Orthopedics and Sports Medicine, and in Kelaiah’s case, Radiology really helped us confirm the diagnosis.”

Scottish Rite treats patients from Texas and beyond with JIA and other rheumatic conditions, such as scleroderma, systemic lupus erythematosus, vasculitis and dermatomyositis. “I think people are usually surprised to know that arthritis is about as common as juvenile diabetes,” Stewart says.
 
Working with other physicians, advanced practice providers, physical and occupational therapists, psychologists, radiologists and many others, Scottish Rite’s Rheumatology team helps treat the whole child while supporting one’s hopes and dreams for an active, healthy life. Services provided include infusion therapy, digital X-ray and advanced imaging, orthoses or braces and lab services.

Many parents ask how did this happen. “I try to make it clear that there is nothing that someone did to cause this,” Stewart says. “The short story is that we don’t know how these conditions occur, and hopefully that’s something that science is going to lead us to discover at some point in the future.”
 
Her mother says she went through a lot of emotions learning about Kelaiah’s condition. “I was really taken aback because I thought, ‘oh, it’s arthritis?’ I thought that was something that you got when you were older,” she says. “As a mom, it was painful to hear because I know how much Kelaiah loves sports and how active she is, and all of her siblings are active in sports. That’s basically our life.”
 
For Kelaiah, telling her coaches and teammates led to more questions. “They didn’t know that it is for young people, and they didn’t get that it was my immune system attacking my body,” Kelaiah says. “It has nothing to do with my age.”
 
Kelaiah performs at a high level both athletically and academically, and her natural athletic talent and strong work ethic are driving her to pursue her dream of running NCAA Division I college track. “There’s a lot of competition and skill out there,” Kelaiah says. “People always say running is easy, that you are just running in an oval, but there’s a lot of technique and a lot of skills you need in order to be successful. It takes a lot of mental toughness.”
 
LIVING WITH JIA
Early intervention for JIA is crucial to avoid lasting effects of the condition. Once there’s a diagnosis, rheumatologists, patients and their families work together to control inflammation and keep flare-ups managed. “Initially it was really bad, and she was in a brace,” Tanisha says. “I was wondering, ‘would she ever be able to run again?’”
 
Some symptoms of JIA are fatigue, swollen and tender joints, pain and stiffness as well as fever and rashes. “I probably cry more than she knows I do because I wish I could take it away and help her, but I can’t,” Tanisha says. “I always tell her, ‘you’ve had more good days than bad days, and that’s life in general.’ What an opportunity to learn early on about the ups and downs in life, and that it’s all in how you deal with it.”
 
Stewart has prescribed various medications and injections, also called biologics, along the way to find the best treatment to extinguish the fires in Kelaiah’s body. “I feel very fortunate to live in an age when there are effective treatments for our patients and even more options coming down the pike,” Stewart says.
 
Getting the appropriate type and dosage of biologics has been working for Kelaiah, and with proper rest, good nutrition and hydration, she’s been able to keep training and advocate for herself out on the track.
 
“Because track is a demanding sport, a lot of runners come up with excuses trying not to run,”
Kelaiah says. “I honestly try not to use my knee as an excuse. But when it hurts, I’m like, ‘okay Kelaiah, you don’t want to make it worse,’ so I have to step up and tell my coach my knee is hurting,” she says. “That’s hard for me because I don’t like feeling that something is stopping me from being what I want to be.”
 
Overexertion or overtraining can exacerbate the condition. “A major issue that we see with our younger patients is that they push themselves past the point of comfort, not wanting to disappoint a coach or trainer and not knowing what their limits are,” Stewart says. “Finding your limits is going to help someone with arthritis gain more independence and to really listen to their body.”
 
SPRINTING INTO A BRIGHT FUTURE
Looking forward to upcoming events, Kelaiah continues to work hard each day to move toward her goals. “She’s had a really good year,” Tanisha says. “It’s just trial and error for us now.”
 
Stewart and the team at Scottish Rite continue monitoring her condition and providing support. “When we got to Scottish Rite, we really felt like they cared about us,” Tanisha says. “The care that you get there is just so wonderful. They let us talk about her accomplishments, and they want to know how she is doing.”
 
Those accomplishments are pretty impressive. She was selected by the Texas Girls Coaches Association to represent class 5A-6A schools as a member of the Texas All-Star Team. Her high school track team won district, area, regionals and state in the women’s 4 x 200 and the 4 x 400 relays and placed third in the 4 x 100 relay. Kelaiah competed at the Junior Olympics in 2021 in the 4 x 400 relay, with her team placing fourth.
 
Kelaiah had a strong showing at the most recent regional meet, a qualifier for the 2022 Junior Olympics in North Carolina in August. Her performances have successfully qualified her for the 4 x 100 and the 4 x 400 relays, as well as the 200- and 400-meter individual races, where she also set personal bests.
 
Stewart continues to be a big fan of Kelaiah’s. “She is a resilient young lady,” Stewart says. “She does not let anything stop her. I think just the fact that she’s pushed through all of her obstacles says so much about her.”
 
Kelaiah’s future is bright, and she feels like she’s getting the care she needs at Scottish Rite. “They’re going to get you right,” Kelaiah says. “They’re going to help you, and they’re going to do their best to help you with whatever you are going through,” she says. “It’s a very good support team. You are going to be okay.”
 
Read the full issue.

How Do I Know If My Patient Has Arthritis or a Related Condition?

How Do I Know If My Patient Has Arthritis or a Related Condition?

by | Sep 13, 2021 | Rheumatology

Key messages from a presentation by Lorien Nassi, M.D., at Coffee, Kids and Sports Medicine.

Watch the lecture
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To recognize and respond to patterns of symptoms and findings, a pediatric rheumatologist relies heavily on a medical history and physical exam. Imaging (e.g. ultrasound, MRI) is a dependable tool to help rule out other conditions and recognize active inflammation. With a more accurate diagnosis, rheumatologists can use specific disease patterns (instead of labs) to plan the appropriate targeted therapy rather than traditional approaches, which often relied on nontargeted therapies with higher toxicities (e.g., steroids.) In children, arthritis continues to be the number one cause of acquired disability and therefore deserves prudent recognition, classification and proper treatment.

Juvenile arthritis is frequently referred to as juvenile idiopathic arthritis (JIA). Once other causes of arthritis have been excluded, this condition may be diagnosed in individuals less than 16 years of age with a six-week history of arthritis in any one joint.

Key messages when considering JIA in a pediatric assessment:

  • If pain is the chief complaint or redness is present, it is less likely that JIA is the diagnosis.
  • Signs of systemic inflammation (e.g. fevers, weight loss) should be promptly evaluated to rule out other serious illness.
  • Imaging is frequently more accurate and may be more cost effective than lab work.
    • Several labs have false negatives and false positives.
    • Labs will need to be redrawn at the time of treatment.
    • Ultrasound vs MRI is preferred and is ideally read by a pediatric radiologist with musculoskeletal expertise.
  • Uveitis may by asymptomatic, but is an important finding that should be treated in order to avoid permanent vision loss.

Here were some questions Dr. Nassi addressed during the discussion: 

What are activity limitations for children with JIA?

  • Children taking Coumadin or those with c-spine involvement, should not play contact sports.
  • For others, if the activity doesn’t cause pain, no limitations are necessary.

Is there a role for physical therapy or occupational therapy in patients with arthritis?

  • For conditions such as scleroderma, reducing the risk of contractures may require focused treatment.
  • ​For most conditions, provided that targeted treatment is successful, there should be less of a need for therapy to maintain mobility.

When prescribing NSAIDS, do you prefer ibuprofen or Naproxen?

  • Naproxen is more convenient for families to provide twice daily and therefore may be more likely to be a successful treatment. Otherwise, there is no preference.

How do I know if a joint is actively inflamed and I need to refer?

  • Ultrasound, when evaluated by an experienced pediatric musculoskeletal radiologist, can frequently distinguish active inflammation from chronic synovial changes.

What are DMARDS?

  • Disease modifying antirheumatic drugs (e.g. methotrexate, sulfasalazine).

Is there a hereditary component to arthritis?

  • Though there are some markers showing associations, we have not identified any causes. Clearly, genetics are involved, but it’s just part of the story.

What is enthesitis-related arthritis?

  • Enthesitis is inflammation at the tendon or ligament insertion in a bone. Enthesitis-related arthritis is a condition that can present as a single joint complaint that may be initially diagnosed as an apophysitis (e.g. Sever’s disease, Osgood Schlatter’s). Though it is rare, the progression of this condition without proper treatment can result in permanent damage.

Pediatric rheumatology is a very unique and rare subspecialty, and we are pleased to have five of them on our staff at Scottish Rite for Children. This team sees patients at our locations in Dallas and Frisco.