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I am the Momma of 8 children. Seven here on earth and 1 precious little Angel in Heaven. My children range in age from 2 months to 25 years. My 6 year old was born with a laundry list of complex medical conditions. He has Trisomy 21 (Down Syndrome), a rare brain malformation, which resulted from a mutation of the PAX-6 gene, bilateral anophthalmia, which means that he was born without any eyes, so he is totally blind. At the age of 2 1/2 months old he had to have a tracheostomy to help aid in his breathing. He is hearing impaired, with normal hearing in his left ear and has profound deafness in his right. At 3 1/2 years he had surgery to have a Mic-Key button placed in his stomach (feeding Tube), which is mainly used to give him his medications. He also has insulin dependant diabetes and wears an insulin pump, which gives him a continuous dose of insulin. Even with his many dis"abilities," including being globally developmentally delayed, he has accomplished more than anyone would have ever believed that he could. Join us in our journey living with a Dis"Abled" child....

Sunday, December 26, 2010

World's Greatest Endocrinologist

Timmy's Endocrinologist, Dr. Ali Calikoglu, has been a major part of Timmy's medical team since Timmy was in the NICU. Dr. Ali has taken on the role that many other Endocrinologists have refused. If not for Dr. Ali's professionalism, compassion, caring, understanding and willingness to work along with us, Timmy wouldn't be as healthy as he is today.

As I look back on Timmy's first couple of years at home, following his discharge from the hospital, I now realize just how much patience Dr. Ali has. Dr. Ali provided us with his personal Cell phone number and his pager number, so that if we had any problems controlling Timmy's blood glucose levels, we would have an avenue in which to contact him personally.

It is through thousands of middle of the night phone calls to Dr. Ali for advice and guidance, that as Timmy's parents and Home Health Nursing Staff, we have gained the knowledge through observation to learn Timmy's blood glucose patterns. During many of those middle of the night phone calls to Dr. Ali, after him giving us his professional opinion, we would question his orders and come to a treatment agreement together. It took ALOT of patience on Dr. Ali's part to get through these phone calls with us.

Over the past 7+ years. Dr. Ali has become more to our family than just Timmy's Endocrinologist or a team member. He has become a friend. Someone whom we feel comfortable turning to if we need advice, guidance, or just a listening ear with issues that are not medically related.

Timmy and Dr. Ali will be appearing in UNC's 2011 Calendar and UNC's 2011 Endocrinology Annual Report. Here is a rough draft of the article. Dr. Ali wants to make changes and add to this article.....

          ****One of a kind: 7-year-old Continues to Beat the Odds****

Before birth, doctors told Floyd Gaeth there was a 1 percent chance that his son Timothy would survive. He did survive, and seven years later, he still is beating the odds.

Timothy was born 10 weeks premature. His parents knew he would have Down syndrome, but the diagnosis was much more complex: Timothy was born with multiple abnormalities of the central nervous system, eyes and lungs. He was born without eyes; one of his lungs collapsed. Shortly after birth, Timothy exhibited extreme blood sugar fluctuations, and doctors added another, unexpected diagnosis: neonatal-onset insulin-dependent diabetes mellitus. Timothy’s condition has been identified as an extremely rare genetic mutation. He inherited two mutated copies of the PAX6 gene, one mutated copy from his mother and one mutated copy from his father. He is the only living person in the world with this genetic abnormality. This makes his care especially difficult.

“Most doctors are too afraid to provide care for Timothy because there's no textbook for how Tim might react to particular treatments,” said Floyd Gaeth, Timothy’s father.

Throughout the first few months of Timothy’s life, his parents and caregivers had to monitor his blood sugar at all hours because of the severity of Timothy’s diabetes. They gave him insulin to control his blood sugar, but the slightest difference between batches of insulin was life threatening to Timothy.

After one particularly bad reaction to a batch of insulin when he was five months old, Timothy was airlifted from his home in Wilmington to N.C. Children’s Hospital. The Gaeths were connected with Ali Calikoglu, MD, chief of the UNC Health Care pediatric division of endocrinology and associate professor, who recognized the challenge of this case. With special expertise in using insulin pumps in children, Dr. Calikoglu 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,” Floyd said, “but we love it now.”

Over the past six years, Dr. Calikoglu has cared for Timothy. His symptoms and erratic insulin fluctuation are unlike anything the 30-person team in the division of pediatric endocrinology had seen before.

“Dr. Ali is the only person who will treat Tim's diabetes,” Floyd said. “Dr. Ali's 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.”

Dr. Calikoglu and Timothy have a 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,” Dr. Calikoglu said. “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 continuously to affect improvement in Timothy’s health.

Timothy’s care demands coordination at the highest level — from pediatric pulmonologists to the endocrinologists. Caring for Timothy requires creativity and passion.

“Dr. Ali thinks out of the box every day, every hour,” Floyd said. “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.”

For the Gaeth family, Dr. Calikoglu is on call anytime day or night no matter where he is. His support and understanding of Timothy’s condition have empowered the Gaeth family to provide the high level of monitoring and round-the-clock care he needs. This trusting relationship between Dr. Calikoglu and the Gaeth family has made a difference in Timothy’s care.

This relationship has also made a difference in the field of research. The Gaeths have been to the NIH to meet with geneticists interested in learning more about Timothy’s case.

“Caring for Timothy is not only very interesting, but challenging,” said 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 first grade at a year-round school.

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

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