Six-Year-Old with Diabetes Insipidus Doing Well, Getting Care in Our Histiocytosis Center
Nick and Natalie Lizanich were tired of waiting.
Their son, Trey, had been recently diagnosed with diabetes insipidus but the cause remained a mystery. He continued to suffer from intense thirst and heavy urination. His parents were worried.
Doctors where they lived in Indianapolis narrowed it down to three possible causes: Langerhans cell histiocytosis (LCH), a tumor, or a “fluke” unknown condition that was specific to only Trey.
Their advice: To maintain a “wait and see” approach to his treatment and care.
Nick and Natalie disagreed. They noticed their son’s frequent drinking / urination pattern for months and were determined to find the cause and solution — sooner rather than later.
After a quick online search they discovered Cincinnati Children’s and the research being conducted by Ashish Kumar, MD, PhD.
“We Just Wanted What Was Best for Trey”
“Obviously as a mom, I started researching all three of these things. And Dr. Kumar’s name came up just with a google search,” said Natalie. “So finding that he was doing [LCH] research, we were intrigued by it. We know that things change so quickly in the medical field. And we just wanted what was best for Trey.”
In December 2018 they met with Kumar in our Histiocytosis Center.
“Being proactive and seeing what we can do — versus kind of waiting and seeing — is what spearheaded us to do more,” said Nick.
They quickly knew they had made the right decision to come to Cincinnati Children’s for a second opinion.
“We had a feeling going in that Dr. Kumar could offer a plan,” said Nick. “A legitimate road map to how we could try to either treat or find out exactly what’s going on. We were very impressed.”
As co-director of the Histiocytosis Center, Kumar has been using novel drug therapies for years to successfully treat 100% of his patients with LCH. Could Trey be the next?
LCH is a rare, cancer-like condition that oftentimes affects a child’s skin and bones. In Trey’s case, he does not have a confirmed LCH diagnosis.
Instead, an MRI revealed a tumor was causing swelling on his pituitary stalk — the confirmed cause of his water retention troubles.
The pituitary stalk is a tube-like structure connecting the posterior pituitary to the hypothalamus in the brain. Hormones, synthesized in the hypothalamus, are sent via the tube to the posterior pituitary for release into the bloodstream.
“Your Body Cannot Hold-On Water”
Indeed, low levels of water hormone antidiuretic (ADH) were the root cause of Trey’s excessive drinking and near-constant urination.
“If your pituitary gland does not produce this hormone, then you get this insipidus,” Kumar explains. “Which is basically, your body cannot hold-on water. You are basically peeing more than a gallon of water a day. And in order to replenish that water, you are drinking all of the time.”
There's no cure for diabetes insipidus so there was no treatment to offer Trey, especially since Kumar and his team didn’t know what caused his pituitary stalk swelling and the diabetes insipidus.
"Shortly after I saw him, Trey complained of headaches and a repeat MRI showed the pituitary stalk swelling was worse,” said Kumar.
“I worried that whatever condition this was, it was progressing, and if this was LCH, it could spread to other parts of the brain, causing irreversible damage. Now we had a real threat, and a goal of treatment, to protect Trey’s brain.”
Once Trey began taking the daily oral drug (trametinib), his turnaround was fast. After only a few days in the hospital, he was discharged.
“Three months later we repeated the MRI and the swelling was completely gone,” said Kumar. “I was not expecting that. The best I would’ve expected is that it had not gotten any worse.”
The therapy worked for Trey just like it has for others. Over the years, Kumar has found it to be more effective than traditional chemotherapy – the most common form of treatment for patients with LCH, and those with similar cases like Trey.
“He has not had any side effects since he’s been on it now for two years,” added Kumar.
Now in kindergarten, Trey, 6, is doing well, making friends and staying busy playing with his siblings and letting his imagination run wild with his Legos, Lincoln Logs and magnetic block construction projects.
“He plays T-ball with his brother. And they do swimming and basketball camps. All the things that kids do – just having fun with each other,” said Nick. “He doesn’t question things. He doesn’t question his medicine. He doesn’t get scared.”
“A Well-Oiled Machine”
And his parents don’t have to worry about getting in touch with Kumar or his team, let alone asking questions about medication delivery difficulties or wading through insurance authorizations or red tape.
“Given the rarity and seriousness of these conditions, we chose to make ourselves easily accessible to our patients,” said Kumar. “By telephone and email they keep in touch with us constantly. It also reassures us that if anything happens, they will reach out to us and let us know immediately.”
Natalie knows that if she has any questions, Kristen Coleman, RN, care manager, is her go-to contact.
“I can’t say enough good things about her. She is very, very easy to reach and communicate with,” said Natalie. “She has taken care of almost all of it. She’s been very proactive in making sure everything has been taken care of for us.”
Kumar agrees: “The hard work that Kristen puts in is truly laborious, with several things to track, which she does meticulously and efficiently. We would not be where we are without Kristen on our team.”
As Nick and Natalie put it, the histiocytosis team at Cincinnati Children’s offers a comfort level that makes it feel like a home away from home.
“Cincinnati just had a feel of working like a well-oiled machine. From admissions, to the floor staff, to being very comfortable with Dr. Kumar and team — it felt like everyone worked very well and efficiently together.”
(Published March 2021)