Mom on a mission to help son with rare form of primordial dwarfism
Big hopes help this little boy grow
Wednesday, March 20, 2013
Angelo Santana scampers across the living room floor like any other 2-year-old, except for one noticeable difference. He scoots on his butt, not on his hands and knees, let alone on his own two feet.
This is just one of many intriguing yet endearing peculiarities of Angelo, who was born with Russell-Silver Syndrome, a very rare and severe type of primordial dwarfism.
Angelo emerged into this world at 34 weeks, weighing just 2 pounds, 3 ounces, via emergency C-section at Rush University Medical Center in Chicago.
"Essentially, he was just a head, along with some skin and bones," explains his 23-year-old mother, Rita Santana, while Angelo squeals in delight playing with his toys at their Aurora home. He spent his first three months in the hospital.
Angelo struggles with developmental problems, a cleft palate, severe constipation, poor hearing, dangerously high calcium, and body asymmetry (his right side is shorter than his left). He must be fed a concentrated high-calorie formula with a feeding tube through a port in his chest, possibly for years to come.
"The first year of his life was such an emotional time for us all," Santana says. "We had never heard of this condition, and his doctors were also new to this rare syndrome."
Today, at a relatively whopping 12 pounds, Angelo still wears clothes of a 3-month-old baby. He cannot speak except for sounds and hand signs that only his mother can decipher, although he is set to have surgery to repair his cleft palate.
Yet Angelo has big bright eyes, bigger ears, and the biggest smile you could imagine for such a tiny human being. In public, strangers turn into gapers, people ask a lot of questions, and Angelo is a natural-born ham in front of any camera.
"Everywhere we go he makes people turn," Santana says. "I know it's his little baby doll appearance, but he is always happy to make new friends."
Angelo also has an infectious laugh, a contagious smile, and enough energy to electrify a skyscraper.
"If he's not like this, we know something is wrong with him, so we enjoy these moments," Santana says. "He is a typical toddler with tantrums and all. Even worse, because he gets so frustrated he cannot communicate or walk like others his age."
More hope than ever
When Santana and her husband, Dionisio, first learned of Angelo's diagnosis, they went in two different emotional directions, a common reaction for new parents of children with special needs. Dionisio was confused and somewhat in denial. Rita, who is in school to obtain a nursing degree, was curious on how to best deal with Russell-Silver Syndrome (RSS) and its many complications.
She bought textbooks, learning more about this rare syndrome. She found the world's largest organization dedicated to growth abnormalities-the Oak Park-based MAGIC Foundation. And she attended a convention in the Chicago area, where she met the nationally renowned RSS specialist, Dr. Madeleine Harbison.
Harbison, a New York-based endocrinologist, confirmed with Santana that her son has the "11p15 type" of RSS.
Santana wondered just how rare this type of RSS is, which occurs roughly in one out of every 100,000 live births.
"A general pediatrician could practice for his whole life and not see one child with RSS," Harbison says.
RSS is named in honor of two physicians in the 1950s who independently described groups of small-for-gestational-age children.
Is the life expectancy of children with RSS much lower than for other kids? Not if they get the care they need, Harbison says. Yet, certainly, their daily activities can be affected because they are so small, weak and frail.
"Generally, these children grow well on growth hormones," she adds. "It remains to be seen how Angelo will grow because he is so much smaller than the typical RSS child."
On a broader scale, RSS is being more appropriately diagnosed these days at younger ages, thanks largely to the MAGIC Foundation and the tireless work of its co-founder and chief executive officer, Mary Andrews.
"We have only about 2,000 such cases nationwide of RSS in our database," says Andrews, whose now-41-year-old son was born with a form of dwarfism.
"Back then, pediatricians didn't know anything about this issue," she says. "Today, my son is married with two kids."
More to the point, now he is 5-foot-7, she quickly notes.
Many RSS parents ask the same question as other new parents of children with special needs: What are the chances for a normal life?
Experts insist the prospect for a normal life with a normal adult height is closer than ever before.
Bobbi McGrath knows full well how Santana and other "RSS mothers" feel with their youngsters. Fifteen years ago, the Chicago area mother gave birth to her daughter, Kelly, a preemie who weighed less than three pounds.
"After a few days in the NICU, when we unwrapped her, my husband started comparing her feet and noticed a big difference in size," McGrath recalls. "The nurses gathered around and we all realized Kelly's body was asymmetric. Her left side was significantly smaller than her right side." (Roughly 50 percent of RSS children have asymmetry.)
The hospital's on-staff geneticist told the couple that Kelly would be small in size and she would grow slowly, and would be difficult to feed.
"We spent the next 10 months trying to feed her as often as possible, even waking her up every night," McGrath says.
It worked. So did growth hormone therapy and, later, reflux surgery.
Through her adolescence, Kelly suffered several broken bones due to low bone density. And she had to have limb-lengthening surgery in eighth grade, a painful process that took several months to complete.
"She still is recovering from the process and trying to regain her strength to walk more normally," her mother says. "She spends a lot of time at physical therapy."
She also takes several daily medicines to counter her symptoms, including a prescription for high blood pressure.
Otherwise, Kelly pretty much can eat whatever she wants, and she has developed as normally as other kids her age, both socially and academically.
"She is accepted by her peers at school, too," McGrath says.
Kelly is looking forward to obtaining her driver's license, enjoys different school clubs and likes to play volleyball, among other competitive sports.
More noticeably, she stands 5-foot-4, head and shoulders above the average untreated RSS girl, her mother proudly points out.
"We are very thankful for all the intervention that has helped Kelly over the years," she adds. "Through the MAGIC Foundation, she has made many RSS friends all over the country. She looks forward to seeing them at the convention every summer."
This news will surely brighten the attitude of Santana, who now will be a regular attendee of the convention. Her goal as a parent is to instill hope in Angelo.
"He's different but he, too, can be accepted," she says. "I want to teach him to accept himself for who he is, not what the world thinks he is."
Santana then picks up Angelo and bounces him on her knee. He shrieks in delight, his wide eyes darting to hers.
"Despite his size, he is capable of pretty much anything any human can accomplish. He's my little man."