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Finding the right diagnosis for a child with multiple serious medical issues can be a challenge. Especially for children in locations where specialists with the experience and expertise to diagnose rare diseases are not readily available.
For parents with children who don’t seem to respond to any treatment, the needle-in-a-haystack diagnosis may seem unattainable. That was the case for Valeria Galindo Bandes, a child from Mexico who began having issues in utero. Five months into her pregnancy, mother Dexiree and father, Juan Galindo, were told by doctors in Mexico City that their unborn child was not growing at the expected rate. Tests for various conditions came back negative. They continued to monitor the baby for two more months before deciding to deliver her by cesarean section amidst fears for the baby's health.
Weighing in at four pounds, little Valeria appeared healthy and went home with her family three days later. But things were not right. She cried and wanted to be held constantly; she was not eating well; and her urine was acidic resulting in bad rashes. The symptoms continued for six months until she was diagnosed with renal tubular acidosis – a disease that occurs when the kidneys fail to excrete acids into the urine. One complication is growth issues. Valeria continued to not eat well and was not able to sit up, hold her head up or roll yet.
The doctors prescribed antibiotics for persistent kidney infections and ran several tests to determine the extent of the renal tubular acidosis. They suspected Valeria had a duplex collecting system in which two separate ureters were draining independently into the bladder, resulting in inflammation in her right kidney. During surgery to fix the ureter, the physicians found that the second tube was draining into the vagina and reconnected it to the kidney.
After the surgery, Valeria’s condition still did not improve. She was still crying constantly and would not eat by mouth, resulting in her becoming malnourished and dehydrated. The physicians inserted a nasogastric tube to feed her, but every time they tried to remove the tube Valeria would refuse to eat. She also began physical therapy to help develop her weak muscles, but she showed very little improvement.
“At eight months old, she still had the same symptoms; nothing helped,” said her mother. “She looked like she was still three months old and only weighed six pounds.”
With no clear signs of why Valeria was not eating or showing improvement, her doctors referred her to the International Services team at Children’s Hospital of Pittsburgh of UPMC where they felt confident the specialists at Children's would be able to diagnose and treat Valeria better than they were able to in Mexico at the time.
Diagnostic specialists at Children's Hospital reviewed Valeria’s blood work, EEG and CT scan and suspected that her tubular acidosis diagnosis might not be correct but instead it was a neurological issue. They recommended Valeria be transferred to Pittsburgh as soon as possible. Eight days later, after a brain MRI and several tests, Valeria was diagnosed with lissencephaly, a rare genetic brain malformation characterized by a smooth cerebral cortex and small head. The malformations can cause severe intellectual disability and developmental delay in addition to weak muscle tone and feeding difficulties.
“The doctors told us that Valeria would not progress anymore and that she was not going to survive,” remembers Dexiree tearfully. “The prognosis was even worse than the renal tubular acidosis. We understood that we were not going to be able to change the diagnosis, but were determined to change the prognosis. That is what we have done and will continue doing. We decided to do everything we can and more to give our beloved Valeria the best quality of life.”
Valeria was referred to the Program for the Study of Neurodevelopment in Rare Disorders at Children’s Hospital where she was evaluated by Maria Escolar, MD, a neurodevelopmental pediatrician and director of the program, who has expertise in rare neurological disorders.
Dr. Escolar and her team use a multidisciplinary approach to help parents deal with the overall impact of rare neurological diseases in the child’s functional skills. Dr. Escolar completed additional testing to understand Valeria’s environment, hearing, sight and functional levels in five different areas of development. An intervention plan was developed to maximize her strengths and to work on her weaknesses.
Valeria returned to Mexico where her doctors placed a gastrostomy tube to help her with her nutritional needs and she began various therapies to optimize her development. She was further diagnosed with Miller-Dieker syndrome, which was consistent with her delayed mental and physical development, feeding difficulties, low muscle tone, and seizures.
Valeria returned to Children’s for two more visits in two years; the most recent time after she began suffering from seizures.Throughout the numerous visits, the family has benefitted from the expertise given by Children’s Hospital's staff who understand the physical and emotional intricacies of caring for a child with multiple rare diagnoses.
“It’s very helpful to understand what the child needs, and to help the parents navigate the system and translate therapies around the world,” explains Dr. Escolar. “At the clinic, we know how to predict their disease course and prevent complications. With this information parents know what their child needs and can advocate for the services. We help parents understand how to change their expectations and still have a happy life with their disabled child.”
With her newfound knowledge of her child’s growth and expectations for her future, Dexiree is concentrating on how she can help Valeria be at home with fewer complications and hospitalizations. She has figured out how to communicate with Valeria through music – a common love as her mother is a well know singer and model in her home country.
Dexiree and Valeria plan to return to Pittsburgh every six months to have doctors review her case. Despite her daughter’s prognosis, Dexiree is grateful for the care she has received in Pittsburgh.
To seek a consultation or refer a patient to Children’s Hospital of Pittsburgh of UPMC, contact our International Services team by phone at +1-412-692-3000 or by e-mail at email@example.com.
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Pittsburgh, PA 15224
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