May 21, 2020
Aidan Mascarelli is learning to play the piano, taking karate lessons and developing his talent for drama and theatre. While these may seem like normal pursuits for a 9-year-old, Aidan and his parents know he is not a typical fourth-grader.
Aidan was diagnosed with steroid-dependent nephrotic syndrome (SDNS) before his third birthday and has lived with the disease and side effects of treatment since that diagnosis.
“When he was 2 years old, I noticed that his face looked swollen. But he was otherwise healthy, so I thought he might just be allergic to something,” explains Aidan’s mother, Mausam Mascarelli. Even after visiting the pediatrician, Mausam was not alarmed because the doctor did not seem concerned—despite the fact that they were unable to get a urine sample.
Aidan didn’t get better, and when an ear infection turned into severe ear pain that resulted in a trip to the emergency room, tests performed by the ER physicians showed that Aidan had nephrotic syndrome.
A Life on Steroids
Nephrotic syndrome is usually caused by damage to the clusters of tiny blood vessels in the kidneys that filter blood as it passes through to separate things your body needs from those it doesn’t need. Healthy kidneys keep blood protein, which is needed to maintain fluid levels in the body. But damaged kidneys allow the protein to pass through to the urine. This causes symptoms such as swelling, especially in the ankles, feet and face; fatigue; loss of appetite; and weight gain due to fluid retention.
“Nephrotic syndrome in children is not common, and most pediatricians may see only two cases throughout their career,” says Kenneth V. Lieberman, M.D., a pediatric nephrologist at Joseph M. Sanzari Children’s Hospital. “The cause of the disease in children is not well understood, but it appears to be a mistargeting of the immune system that causes the kidneys to improperly leak protein into the urine and then retain fluid. It is this fluid retention, due to an abnormally low urine output, that causes swelling throughout the body.”
The first line of treatment for the condition is corticosteroids, a strategy that has been effective since the 1950s in treating the majority of patients, Dr. Lieberman says. While most patients will improve while on the steroids and maintain remission as the dose and frequency of steroids is slowly reduced, certain patients are deemed “steroid-dependent.”
Aidan fell into that category, which means that he relapses quickly as the steroid medication is tapered off. While he responded positively to the medication when first taking it, he quickly relapsed multiple times.
“Steroids cause a number of side effects in children, and the longer a child is on the medication, the more severe the side effects will be,” Dr. Lieberman says. Side effects include:
- Weight gain
- Behavioral disturbances
- Depressed immune system that leaves children susceptible to infections
- Interference with growth
Aidan’s steroid-related symptoms included severe swelling, irritability, mood swings, hunger, insomnia, restless leg syndrome and extreme fatigue. After two years with no real improvement despite efforts by two different doctors, the Mascarelli family was desperate for answers. They sought out Dr. Lieberman after hearing about him from some friends.
“We were trying to educate ourselves to help Aidan have as normal a childhood as possible,” Mausam says. “He is a happy child with a wonderful outlook on life, but he was constantly tired, could not play sports and easily caught every cold or virus at school.” Because steroids weaken the immune system, a flu virus that most children recover from in a few days would take Aidan 12 days, which meant many days absent from school.
“During our first visit with Dr. Lieberman, he spent over an hour talking to us about Aidan’s condition, his plan for treatment and what we could expect as the treatment progressed,” Mausam says. Up to that point, Aiden’s parents were mostly self-taught, but Dr. Lieberman provided details about the medications, expectations for remission and even temporary relapses. Mausam adds, “He gave us information we had not received before.”
Dancing Through Life
In May 2018, Dr. Lieberman started Aidan on a new, carefully planned medication regimen, which consists of oral medication versus the intravenous infusion he previously had to go to a clinic to receive. “There are five medications fully approved for Aidan’s condition, and there are more currently in clinical trials,” says Dr. Lieberman. Because he specializes in treating SDNS pediatric patients, Dr. Lieberman has been involved with some of the clinical trials and published research papers on the topic. “There is an expertise required to select the right dose and medication that is most effective,” he adds.
Aidan and his family saw a big difference in only four to five weeks. “He had more energy, fewer mood swings, less swelling and was able to sleep better,” Mausam says. “He was able to participate in activities without worrying about getting tired.”
By December 2018, Aidan was completely off steroids for the first time in six years. He enjoyed a long period of remission that lasted until September 2019.
“He caught a cold that caused a relapse and he needed to take steroids, but we now know that there is a medication that will get him off steroids again,” Mausam says.
The long remission allowed him to enjoy his music, drama productions and just being a child. “Aidan has so much joy in his heart, and he is just dancing through life—no matter what happens,” Mausam says.
Learn how pediatric experts at Joseph M. Sanzari Children’s Hospital go the extra mile in their care of patients with kidney disease.
Dr. Lieberman practices in Hackensack and Neptune. To make an appointment, call 551-996-8228.
The material provided through HealthU is intended to be used as general information only and should not replace the advice of your physician. Always consult your physician for individual care.