Right: Julie Cini, Ross Brownlaw and Billie Brownlaw with five month old Montanna, who suffers from a
rare genetic disease that paralyses her voluntary muscles, meaning she will never sit or stand.
Picture: EBONY YUILL
News Article 1
Montanna's Story
Article by SHANE FOWLES
A HEYWOOD couple received the news no parent could ever wish to hear; your daughter will never be able to sit or stand, and she will probably not live to see her first birthday.
Ross Brownlaw and Julie Cini had to come to terms with this stark reality after their first child together, Montanna, was diagnosed at three months of age with Spinal Muscular Atrophy (SMA) type 1.
There are several clinically distinct forms of the paralysing genetic disease, but Montanna suffers from the most severe, type 1, which means she will never be able to sit unaided and has severe problems with breathing and swallowing.
Statistics show that an average lifespan of children with SMA is 8 months, with the majority of sufferers dead by the age of two. Montanna is now five months old, and her parents have no idea how much longer their baby daughter will live.
The couple first became aware that something was amiss in their daughter when Julie compared Montanna's development with other new-borns in her mother's group. "I had noticed all their babies were moving their heads and arms, and were starting to develop, while Montanna was just lying there,"Ms Cini said.
After a doctor referred them to a paediatrician, a simple blood test diagnosed Montanna with SMA.
It was the second case the paediatrician had seen in 20 years, with one in 10,000 children born with one of the four types of SMA. "It has been a case of not only educating ourselves, but also the doctors as we find out more information,"Ms Cini said.
Mr Brownlaw said the family was strengthened by the community, including the Heywood Lions Club, which provided Montanna with an air conditioner to regulate her body temperature. "What has kept us going is the support from the community, I am very grateful that we live in this area," Mr Brownlaw said.
Because of her weak cough mechanisim, if Montanna gets a cold, bacteria will accumulate and multiply in her airways, which could develop in fatal pneumonia and respiratory failure. This means the family cannot take her anywhere she might contract a cold, and ensures that visitors are kept to a minimum. "It is isolating for me and Julie in that sense,"Mr Brownlaw said. "There is no treatment which is the most frustrating part of the disease; all we can do is make Montanna comfortable while she is here," he said.
Montanna is supported by a portable suction machine, which helps remove the secretions from her chest and enables her to breath more effectively by increasing the amount of oxygen into her body. She also has a nasal gastric tube to feed her, after she started to loose the capacity to breastfeed. However, Montanna's hearing, vision and intelligence are not affected, and she is interactive and very social.
Although the survival rate beyond two years is rare, scientists have traced the cause of SMA to defects in a single gene that is deficient in a motor neuron protein called SMN. They located a nearly identical gene, which they termed SMN2, and have begun to trial drugs in an attempt to stimulate production from SMN2.
Mr Brownlaw said Montanna is using the medicine Epilim, which is used to treat epilepsy, which US trials have shown encourages developement of SMN2. Although he doesn't expect it to cure Montanna of SMA, he hoped it would add a few months to her life, and enable the family to spend more valuable time together. SMA is a recessive genetic disease , meaning that both parents must carry a copy of the recessive gene. One out of 40 people carries the gene and the chances of a child having SMA from two carriers is 25 per cent.