Mom looking for answers on baby's brain disorder
A Halifax woman whose baby has a rare brain disorder is frustrated with the lack of knowledge about his condition and is going public in the hopes of saving his life.
Samantha Monaghan said her four-month-old son Luc LeBlanc has fumarase deficiency, which means his enzyme count affects the normal growth of his cells.
"It's so extremely rare, you just don't know what to do," Monaghan said tearfully.
Luc was born two months premature. When doctors did an MRI they found he has a severe brain disorder called polymicrogyria, Monaghan said.
Common clinical features with polymicrogyria include intellectual disabilities, seizures, feeding difficulties, absent gag reflexes, respiratory problems, motor dysfunction and mental retardation.
It's so rare, Monaghan said, that it's hard to find information and no one seems to be able to answer her questions.
"Usually the survival rate is probably about 12 months to two years and with Luc they told me that he probably wouldn't grow and gain weight and thrive because of the fumerate deficiency," she said.
Monaghan said Luc is beginning to hold his head up, is eating well and has grown nine inches and gained seven pounds — all things she understood he shouldn't be able to do.
Monaghan would like the IWK Health Centre to help her, but she said doctors there told her there's not much they can do.
"It's extremely expensive because none of this is covered by MSI and you know it's hard to raise money, it's just really hard. When you should be bonding with your kid, you can't, because you don't know if he's going to live or die," she said.
Monaghan said she doesn't know where to start to raise money. She decided to go public with Luc's condition, hoping the public and a specialist somewhere can help her.
"There's no grief counselling, no counselling, there's no support. I just deal with it. I come home and I deal with it every day and I don't know what I'm dealing with," she said.
Monaghan said tests next week are expected to tell her more about Luc's condition.
Dr. Jonathan Kronick, professor of pediatrics in the division of medical genetics at Dalhousie University and the IWK, said Kronick said he would be surprised if the IWK wasn't giving any help and support to Monaghan.
"I don't know the situation with this particular woman or her baby, so I can't comment. It would be surprising that someone who has a child with significant problem is not getting any support from the IWK, in my view of things," he said.
"In general, there would be physicians like myself and other colleagues in genetics who could provide information and support for the family.
"There would be pediatricians and family physicians who could also be involved, and there are neurologists. So there are a group of medical physicians to help with the child and advise and possibly treat, as well as psychologists, social workers and nurses who could also provide support for the family."
Also, Kronick said the urine organic acid test is done at the IWK and is covered by MSI.
"We do it at the IWK, most tertiary care children's hospitals in Canada can do it," he said.
Kronick said he has only had two patients with the disease in his 33-year career. He said there have only been 40 cases in the world reported in the medical literature.