Little Zhanea Fights a Rare Genetic Disorder

The first baby to come into a family’s life is a very special time. It is a time filled with a lot of first experiences – seeing the first sonogram, hearing the baby’s heartbeat, and ultimately holding the newborn. While it can be nerve wracking for first-time parents, it is an exciting and wonderful time to witness a new life being brought into the world. But from the beginning for young parents, Kate and Vince Dinopol, their baby, Zhanea Rhain, would experience a different kind of start to life.

 

Three days after her birth, Zhanea was admitted at the Chong Hua Hospital Pediatric ICU in Cebu, Philippines for a severe infection. During treatment for the infection and through extensive testing in both Manila and Hong Kong, she was ultimately diagnosed with a rare genetic disorder – Inborn Errors of Metabolism. There are several types of Urea Cycle Disorder (UCD) and based on available tests Zhanea’s doctors classified her condition as CPS1 vs NAGS. This deficiency is the rarest of all urea cycle defects and so far this is the first case of this type observed in the country.

 

But what makes Zhanea special is not simply her condition. She’s a bright light for her parents and extended family. At six years old, she’s learned to love to sing and dance. For Zhanea, performing and dressing up has become an escape from the constant visits to the emergency rooms, days when she’s separated from her parents and so weak and sleepy from her genetic disorder that she may be unconscious for hours. Unlike other children her age, Zhanea's body cannot metabolize protein due to a missing enzyme. This can lead
to the accumulation of ammonia, a toxic waste that makes her very ill, and elevated ammonia can cause seizures, irritability, vomiting, disorientation, and excessive sleepiness. The damage on her young brain has slowed down her intellectual development resulting to a delay in speech and motor skills.

 

There is no cure for UCD. A lifetime treatment with medications, supplements and strict low protein diet are required to manage ammonia level and related symptoms. Zhanea’s parents have done all they can to care for their baby girl. Her dad, Vince, stays home to care for her while her mom, Kate, works to support the family. Despite Kate’s health insurance, the extensive level of care that Zhanea’s condition demands have quickly overwhelmed the family’s financial resources. Her extended family has stepped in to contribute all they can including their life’s savings in the hopes of extending Zhanea’s hospital care. But a recent change in her condition has upended their lives.

 

On March 18, 2022, Zhanea was not feeling well and admitted back into the Cebu Doctors Pediatric ICU. This time her condition deteriorated rapidly. Her ammonia levels were out of control; she exhibited delusions and confusion, oftentimes giving a blank stare with no eye contact. Zhanea did not even recognize her mom and yet was crying out for her. She had a bacterial infection in her blood, signs of liver failure, was in and out of consciousness, and showed signs of body immobility. Zhanea spent 20 days in the ICU and is still in the hospital as of this writing. On top of it all, she has developed pneumonia as well as a low heart rate and no pupil constriction. She may be transferred back to the ICU if there is no improvement in her condition.

 

I know that you don’t know Zhanea or her family. But if any part of her story touches your heart, know that is only a fraction of how much I, her great aunt, and our families – both in the Philippines and the U.S. – love this brave little girl. Any monetary support for Zhanea is greatly appreciated and will go a long way in helping her and her family during this dire time of need. From the bottom of our hearts, thank you for taking a moment to learn about Zhanea’s story.

Updates to Zhanea’s story ( 3/12/2023)

After two months in the hospital, Zhanea finally went home on May 23, 2022. Daily medications and supply expenses continued. She started undergoing physical therapy to reduce the shaking of her arms, hands and legs. She needed to learn to sit, hold her head up and rehabilitate her twisted feet. Progress was slow but Zhanea is a fighter and her family supported her healing process. She learned to smile again and giggled in her own way. For the next few months, it seemed she was on the road to complete recovery. 

But on February 12, 2023 , there was an unexpected turn of events. Zhanea developed fever and cough, oxygen saturation dropped and she was no longer responsive. She was immediately taken to the ER where she was intubated and diagnosed with brain swelling and internal bleeding. Heart medication was administered for weak BP and insulin for high sugar. She was admitted to the ICU once more where she was treated for pneumonia, liver dysfunction, blood clotting and bleeding. 

In just two days, the medical bill was over P300,000.00. Her parents Kate and Vince are desperate since insurance has capped, no savings left and when Zhanea was ready for discharge a few days later, half of the total bill had to be paid. With the help of friends and relatives, and a promissory note to the hospital billing dept, Zhanea was discharged on March 8, 2023. But half of the medical expenses still need to be paid and the family is desperate for help. The medical bills from her March 2022 have also have not been fully paid.