Infant diagnosed with rare genetic disease

cheryl rockman-greenberg

A Mennonite infant has been diagnosed with a rare genetic disease, in fact it is believed that Justina Peters from the Shipyard community is the first person to be diagnosed with this condition in Belize. There is only ongoing research for treatment of the hereditary disease so the Peters family is traveling to Canada to take advantage of the investigational treatment. News Five’s Delahnie Bain spoke to the father and authorities from the referring hospital.

Delahnie Bain, Reporting

Hypophosphatasia is a rare hereditary disease that disrupts the development of bones and teeth. The illness affects one in every hundred thousand people in the Caucasian population, but it is fifty times more common in Mennonite communities. Dr. Muthugounder Venugopal, speaks about the effects of the disease.

Dr. Muthugounder Venugopal, CEO/Medical Director, BHPL

muthugounder venugopal

“They are prone to develop more infection, they have problem with their kidneys because their calcium level goes very high. Then their bones are like jelly so they break more easily and they’re also deformed. They are short, they are bow legged, they’re skull is deformed, chest is deformed. The disease could be present even when the baby is developing in the uterus or early infancy and sometimes even in adults.”

While Hypophosphatasia is not life threatening for adults, without treatment, the mortality rate for babies is almost a hundred percent. The first locally diagnosed case is affecting four month old Justina Peters.

wilhelm peters

Wilhelm Peters, Father   (Translated from German)

“We sought medical treatment first in Orange Walk with Doctor Mendez and we had been up and down a couple times. The second month it was worse and finally we came here to Belize City and here at Belize Healthcare Partners they advised us to go to Guatemala. The doctors in Guatemala said this is something they would have to do more research on and maybe after years of treatment she could survive, but they weren’t so sure. Then we came back here to Belize and from here they advised us to go abroad. We first tried the US, in California and they advised us to go Canada.”

Dr. Muthugounder Venugopal

“Justina is going to be going to University of Manitoba Children’s Hospital in the care of Doctor Greenburg. Doctor Greenburg is one of the lead investigators in this trial. This is an investigational treatment. This is not FDI approved or anything like that. Justina’s family knows that. Doctor Greenburg has treated so far about thirty plus patients and they’ve all done well. So I think the prognosis is going to be excellent.”

Aside from Canada, there is only one other health facility that can treat the disease and that is in the US.  And since it is an investigational treatment, Dr. Venugopal says it would not have been available to Justina without the help of the organizations facilitating her trip.

Dr. Muthugounder Venugopal

“‘Til recently, there was no treatment available. In the past year, year and a half through research by Sanford, the organization that is going to be doing the pediatric work, with the help of Belize Health charitable Trust, was the one who funded the research and that is where the treatment is being offered. I need to give credit besides to Sanford and the Belize Healthcare Charitable Trust, also to the Belmopan Rotary. Belmopan Rotary was kind enough to give us a donation of two thousand dollars towards travel expenses and the airfare is being funded by Sanford. So the family is not paying money out of their pocket.”

Justina’s treatment will be intravenous and will last over a year, but she may not have to spend the entire time abroad.

Dr. Muthugounder Venugopal

“Generally the treatment duration will be about eighteen months. The first visit, they will stay for about two weeks then they need to go back in about six weeks and we are hoping after that the treatment could be done in Belize with the help of the drug company because they are willing to supply the drug free of cost.”

The Peters family left Belize today. Delahnie Bain for News Five.