At age 7, Timothy is the only living person in the world (and the oldest ever!) with a specific gene mutation causing myriad medical problems, including the most severe case of insulin-dependent diabetes his N.C. Children's Hospital care team has ever seen.

One of a Kind: 7-year-old continues to beat the odds

The odds were grim, the doctors in Wilmington, N.C., told Floyd and Donna of their soon-to-be-born son, Timothy, in 2003. He would be born with Down syndrome for certain, they said, but his other medical complications were so complex, the baby had but a 1 percent chance of survival. But survive, he did, and nearly eight years later, Tim is still beating the odds.

Born 10 weeks premature, Timothy presented with multiple abnormalities of the central nervous system, eyes and lungs. He was born without eyes, for one, and one of his lungs was collapsed. More frightening, though, he soon exhibited extreme blood sugar fluctuations, and doctors added another unexpected diagnosis: neonatal-onset, insulin-dependent diabetes mellitus.

In time, Timothy's medical problems were identified as an extremely rare genetic mutation. He inherited two mutated copies of the PAX6 gene, one from his mother and one from his father. He is the only living person in the world with this genetic abnormality, which makes his care especially difficult.

"Most doctors are too afraid to provide care for Timothy because there's no text book for how Tim might react to particular treatments," explains Timothy's father, Floyd.

Throughout the first few months of their son's life, Tim's blood sugar was monitored at all hours due to the severity of his diabetes. He was given insulin to control his blood sugar, but the slightest difference between batches of insulin was life threatening.

After one particularly bad reaction at 5 months old, Timothy was airlifted from Wilmington to N.C. Children’s Hospital in Chapel Hill. Once there, the family was connected with Ali Calikoglu, MD, chief of the division of pediatric endocrinology, who immediately recognized the challenge of Tim's case. With special expertise in using insulin pumps in children, Dr. Calikoglu soon recommended a pump to dispense the exact amount of insulin Timothy needed to keep his blood sugar stabilized.

"It definitely was tough putting him on a pump at the time," recalls Floyd, "but we love it now."

Over the past seven years, Dr. Calikoglu has continued to care for Timothy. His symptoms and erratic insulin fluctuation are unlike anything the 30-person team in the division of pediatric endocrinology has ever seen.

"Dr. Ali is the only person who will treat Tim's diabetes," insists Floyd. "And his management of Tim's diabetes is the reason Tim has survived this long. Dr. Ali has been there with Donna (Timothy's mother) and me the whole time. Our son has been to his deathbed twice, and Dr. Ali and the staff at N.C. Children's helped us march him back both times."

And through it all, Dr. Calikoglu and Timothy have developed special relationship. Timothy lights up when he hears Dr. Calikoglu's voice or feels his touch.

"Timothy isn't just my patient — he's my friend," says Dr. Calikoglu. "It's really incredible that he has not only survived but is going to school and interacting with other people."

Dr. Calikoglu has been the driving force behind Timothy's coordinated care. Together with the family and Timothy's other care providers, he has monitored Timothy's progress closely and made incremental changes to continuously affect improvement in his health.

Timothy's care demands coordination at the highest level — from pediatric pulmonologists to the endocrinologists—coupled with creativity and passion.

"Dr. Ali thinks out of the box every day, every hour," says Floyd. "He's not afraid to speak up to do what's best for Timothy. He looks at every piece of the puzzle, every angle, to do what is best for our son. Out of all the parents in the world, we get to be Timothy's parents, and we are glad that out of all the doctors in the world, he ended up as Dr. Ali's patient."

Dr. Calikoglu is on-call for the family anytime, day or night, no matter where he is. His support and understanding of Timothy's condition have empowered Tim's family to provide the high level of monitoring and round-the-clock care he needs.

"Caring for Timothy is not only very interesting, but challenging," says Dr. Calikoglu. "I've learned more from working with Timothy than in my whole career. This family has been instrumental in helping us understand their son's condition, which will help us develop treatments strategies in the future for those conditions."

Today, Timothy attends second grade at a year-round school.

"He is a thriving 7-year-old who is doing things we were told he would never do," says Floyd. "My dream is that one day he will get up and walk."

More about Timothy

Hometown: Wilmington, NC; New Hanover County — about 320 miles roundtrip
Diagnosis: PAX6 deficiency; insulin-dependent diabetes mellitus; holopresencephaly; microophthalmia; hypopituitarism; trisomy 13; and trisomy 21
Primary pediatric specialties: Endocrinology; Children’s Airway Center with otolaryngology/ENT and pulmonology
Other pediatric specialties seen: Neurology; genetics; audiology; hematology; cardiology; surgery; anesthesiology; radiology
Frequency of visits: About four visits per month
Favorite caregivers Dr. Ali Calikoglu, pediatric endocrinologist
Dr. Muge Calikoglu, pediatric geneticist
Dr. Carlton Zdanski, pediatric ENT
Favorite thing about N.C. Children's Hospital: "There’s a lot more caring involved than anyone can imagine and true concern about working as a team. It’s not just a job. At the Children’s Hospital, they give care from the heart." ~ Timothy's father, Floyd

UPDATE: Timothy's parents, Floyd and Donna, provided the following update via email on Sept. 29, 2011.

Tim has been having a lot of fun learning how to us an iPad 2 at school, it is a shame that due to budget cuts they only have one iPad to share between five classrooms. Since starting to use the iPad, his vocabulary has increased tremendously. It’s amazing how a child with such neurological problems responds to something so technically involved. So he has been very healthy over the last year. We have had several general surgeries for dental work and tubes. Also a lot of doctor appointments. Other than that, things are good in our life and everyone is healthy. Once again our hearts go out to all the people at UNC Children's the make everyday better for Timmy.

Endocrinology and diabetes care at N.C. Children's Hospital

The Division of Pediatric Endocrinology at UNC provides state-of-the-art care for children with hormonal disorders including disorders of growth, thyroid, parathyroid, adrenal glands, lipid, puberty, sexual differentiation and diabetes. Our medical specialists see outpatients in clinics throughout the state, including N.C. Children’s Hospital’s outpatient clinics in Chapel Hill and Raleigh and an AHEC (Area Health Education Centers) clinic in Wilmington.

The Division of Pediatric Endocrinology at UNC is recognized by U.S. News and World Report as one of the nation’s best pediatric endocrinology diabetes programs, as published in its “America’s Best Children’s Hospitals” edition. Not only are we at the forefront of pediatric endocrinology and diabetes research, we are the only program in the state that offers specialized clinics for pediatric osteoporosis and Turner syndrome. And perhaps best of all, we can accommodate new patients within two weeks of referral. Learn more about pediatric endocrinology at UNC.

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