Against the Odds, a Transplant Works Wonders
The infectious smile of Josh Buller, an active and fun-loving 16 year old, struggled to emerge for most of his childhood.
This young boy spent the first 15 years of his life battling a rare disease
called Arginiosuccincaciduria, better known as ASA.
What seemed to be a normal pregnancy and delivery quickly
vanished three short days after Josh’s mom, Jennifer McElroy, gave birth.
"Josh became very irritable, screaming almost nonstop and
vomiting up every feeding," Jennifer said.
On the fourth day, Josh barely woke up and was grunting with
each breath he took. Jennifer took her son to see a doctor.
Once in the pediatric intensive care unit at a local hospital in Wichita, Josh fell into a coma.
"We spent two days in the PICU and were told there was a slim
chance he would live," Jennifer said.
After being put on a ventilator for respiratory support
and undergoing multiple tests, doctors found Josh to have dangerously high levels
of ammonia in his blood.
"His ammonia levels topped out over 2,000, and the high
end of normal is typically around 32," Jennifer said.
Doctors diagnosed Josh with ASA, which is an inherited disorder that causes ammonia to
accumulate in the blood, affecting only one in 70,000 newborns.
"Josh didn’t have machinery in his liver to break down
ammonia, which was causing brain swelling and pressure and had the potential to
cause permanent brain damage," said James Daniel, MD, Director, Liver Care
Center and Chief, Section of Hepatology and Transplantation at Children’s
Josh and his family learned to cope with this disease for
the first 15 years of his life, but it was no easy feat. The ammonia build up
caused him to be volatile towards family members, classmates, and in
public settings. These multiple episodes of high ammonia levels required Josh
to be emergently hospitalized and started on an IV to bring his ammonia levels
into a normal range.
"Josh was in the hospital for a total of 29 days during
his first episode. The next 13 years that followed resulted in a few yearly
episodes that required hospital stays to stabilize his ammonia levels,"
These episodes led to central nervous system damage,
developmental delays, severe behavioral problems and Josh had to be put on a
strict diet of little to no protein.
"We felt like we were running out of hope. He kept having
longer, more extensive episodes and we knew there had to be a change," Jennifer
Josh’s mom decided to dig deeper into the
possibility of Josh having a liver transplant. A formal evaluation was then
done by the Children’s Mercy transplant team. A decision was difficult, due to the rarity of the Josh's condition.
"There has only been one published report of a successful
liver transplant for ASA," Dr. Daniel said.
Josh’s mom struggled with what to do, but knew a change had to be made to save
Josh. Despite the uncertain outcomes of ASA liver transplants, the decision was made for Josh to be put on
the transplant list.
Receiving a Gift
On March 1, 2013, Josh received a generous gift of life
from an organ donor and has done extremely well after his transplant. He was discharged 11 days after surgery and has required
no further hospitalizations. The transplant reduced his medications from 13 to 6, with the
hope of removing two more soon. He has also gained 13 pounds and grown nearly two inches during the last year.
"Josh’s teachers have said that they can now accomplish
more with Josh in 45 minutes than they could in a whole semester before Josh
received his liver transplant," Jennifer said. "He also has a new bond with his
siblings, we have a renewed sense of hope and it is great to see him
progressing, not regressing."
The transplant was a true success and is shown through
Josh’s remarkable improvements physically, mentally and emotionally.