In 1998, when three-month-old Madison Custer started waking up every few weeks with her eyes swollen shut, nobody suspected that the cause was hereditary focal/segmental glomerulosclerosis. FSGS is a serious disease that damages the parts of the kidney that filter impurities from the blood, often leading to kidney failure. It is one of the main causes of nephrotic syndrome, a condition that includes protein in the urine and body swelling, especially around the eyes.
In Maddie's case, the swelling seemed a minor problem at first, and it would go down by itself as the day wore on.
"As young parents with our first child," says Susan Custer, "we thought, that's just how her body works. It's probably fine."
More than a stomach ache
But it wasn't. The cause of the swelling wasn't discovered until two years later, when Maddie swallowed a bead and her parents took her to the family pediatrician with a stomach ache.
"The doctor said, well, the bead's probably gone by now, but maybe she has a urinary tract infection," Susan recalls. Tests revealed blood and protein in Maddie's urine, indicating nephrotic syndrome. "That's the first time we knew that something was wrong," Susan says.
Steroid therapy unsuccessful
Maddie was prescribed a common and usually successful treatment for nephrotic syndrome: steroids. But because Maddie's nephrotic syndrome was caused by unrecognized rare hereditary FSGS, the steroids didn't work. And the side effects were harsh and upsetting for two-year-old Maddie.
"It was really, really emotionally hard for all of us," says Susan, who was pregnant with her second child at the time.
At a followup visit, the pediatrician realized that steroids weren't going to be the answer.
"He said, 'she's not really getting any better. You need to take her to Children's'," says Susan.
At UPMC Children’s Hospital of Pittsburgh, Maddie was admitted immediately, under the care of Dr. Moritz.
A biopsy determined that FSGS was the cause of Maddie's nephrotic syndrome. The UPMC Children's Hospital team tried other approaches besides steroids, including a variety of immunosuppressive therapies, without being able to halt the deterioration of Maddie's kidneys.
It became clear that Maddie was going to need a transplant at some point in the future. As FSGS can recur after kidney transplantation, she was placed on dialysis for 15 months in the hopes that it would decrease the chances of it coming back.
At that time Maddie presented, researchers at UPMC Children’s were starting to describe hereditary cases FSGS. Little was understood about the genetics of FSGS at the time and genetic testing was not available.
"We both come from big families," says Susan, "and none of us had ever had kidney problems. So nobody thought it was familial."
A family transplant
At age 6 - 1/2, Maddie received a transplanted kidney at UPMC Children's. The donor was her father, Paul Custer. Her FSGS symptoms abated, and she has lived a healthy, nearly normal life ever since.
Today, she is a 16-year-old creative writing major at Pittsburgh's Creative and Performing Arts school. She writes screenplays for school, and hopes to produce an indie film some day. Tall and athletic, Maddie competes on the school's rowing team.
"I feel normal. I can do everything my friends can do," Maddie says.
Donating a kidney for their daughter was "a very easy decision," says Paul. "Susan wanted to be first in line, but she was pregnant with our third child, so I did it. I was surprised at how easy the process is. It was something I was happy to do for my daughter."
"I knew it in my heart: This is familial."
The genetic cause of Maddie's FSGS finally made itself known with the birth of Landon, the fifth child in the Custer family. At a week old, Landon's eyes had the swelling similar to Maddie's.
"I just knew in my heart what was going on," says Susan. "This is familial." Commercial genetic testing on Maddie by UPMC Children's confirmed the link. "Now we know," says Susan. "Paul and I both have the gene. It's a described mutation."
The silver lining: a plan for baby brother
Brother Landon, now two years old, is benefiting from his sister's experience and advances in therapy. The plan for Landon is to avoid dialysis and immunosuppression, knowing that there's no cure for his genetic FSGS, and prepare him for transplant when the time is right.
How did Susan and Paul get through years of intensive care for Maddie, culminating in a transplant, while raising four other small children?
"Our faith in God, for one thing," Susan says. "But also having a predictable, steady care routine. If you're in a routine, you can get through a day … even if it's a bad day. The hard part is when something changes. That's when the people at Children's were the most helpful. They're so smart, and so caring. Even about the little things. They've always been there."
For the Custers, faith and discipline are only part of the story. Fighting FSGS is also a family affair.