COLUMBUS (WCMH) — In some ways, Jackie Camboni is a precocious little two-year-old girl even though she suffers from Spinal Muscular Atrophy (SMA).
The disease is a killer, plain and simple. It destroys the motor nerve cells in the spinal cord until the victim can no longer walk, eat, and eventually breathe.
There are varying levels of the disease, but the most deadly to infants is Type 1.
Depending on how much the disease has progressed before it is diagnosed, the outlook can be grim.
The average lifespan of a Type 1 SMA patient is two years, and the average age they are diagnosed is 4 months. That’s because the disease strikes without warning. Both parents have to be carriers of the recessive gene.
That means there could be no family history of SMA on either side. Carriers of the recessive genetic disorder are perfectly normal.
To complicate things further, there is no initial indication physically that a child has SMA.
It isn’t until the child begins to miss milestones that some parents even realize something may not be right.
Perhaps the child is not sitting up or rolling over by themselves when they reach an age when that should be occurring.
By then, though, it could be too late.
Corey Noll was nearly two months old when he appeared to have a respiratory infection.
It was almost a month later after being hospitalized for that entire time that a test for SMA was done and confirmed.
He died about a week later when his lung collapsed and he could not breathe on his own.
His mother Stephanie has made it her mission to inform people about SMA, and to get a bill passed through the Ohio legislature that would make SMA testing part of the newborn testing panel that all children are given.
Like Corey, Jackie was born with Type 1 SMA.
She has two older siblings that do not have the disease, and her parents say if she had been born first they would have never realized something was wrong with her development.
Despite noticing her condition later than Corey’s parents did, they were able to get Jackie into an experimental clinical study.
They aren’t at liberty to say much beyond that, but the effects of the treatment have been very positive for the little girl.
She still uses a wheelchair, but her parents say she is almost ready to start learning to walk on her own.
The fine motor skills in her hands appear to be relatively unhindered, as she grasped and played with her mother’s necklace during our interview.
She even has the muscle power to hold her own head up, and operate her traditional un-powered wheelchair by herself.
The whole time she was gabbing away as you would expect any two year old child would, laughing and playing as if nothing was wrong.
Seeing Jackie living life in such a way at her age is powerful, and her father says a great weight was lifted off of the family’s shoulders when she celebrated her second birthday.
Both the Noll’s and the Camboni’s want to see state lawmakers add the SMA test to the new born screening panel, and their efforts have not gone unnoticed.
State Representative Stephen Huffman is the chairman of the House Health Committee which is hearing testimony on the bill.
As a medical doctor, he knows the importance of an early diagnosis.
Before he can fully jump on board with the bill, he wants to know more about how much adding the SMA test to the panel will cost the state.
He is also concerned about how much the treatment costs.
A relatively new drug that was approved by the FDA a couple of years ago called Spinraza has seen a great deal of success.
However, according to a New York Times article from 2016, a single dose of Spinraza has a list price of $125,000.
With a 5-6 dose requirement over the first year, and 3 more annually after that, the price for the drug may be something most people can’t afford.
The question is, should the cost of treatment deter the legislators from ensuring that parents at least know their child has a deadly disease or not?
What happens if more children on Medicaid or CHIP insurance in Ohio are diagnosed with SMA? Think about the cost to cover those patients for life.
Figure in the fact that congress failed to pass a renewal of the CHIP program, which means Ohio will only be reimbursed for 63% of the medical costs as opposed to the 96% CHIP would have paid, and that adds up to a lot of money.
Then there is the cost to test every child.
Some experts say that cost would be nominal because blood is already being drawn to test for other genetic disorders and adding the SMA test to the panel could be less than $1.
Other experts have said that the test may have to be done by a third party and cost around $30.
Either way, every single child born in Ohio being tested adds up.
At the end of the day, however, Stephanie Noll sums up how Cure SMA views those arguments.
“The benefits, I believe, outweigh the cost,” said Noll.
On November 13, 2012 Stephanie Noll lay in a hospital bed and held her son Corey as he took his final breathes.
He was two months and 20 days old when SMA took his life.
She believes that had there been a mandatory test for the disease when he was born, and had the medical advancements that have been made through today been available, he would still be alive.
He would have been 5 years old this year, and just like every year Noll baked him a birthday cake.
It’s a birthday cake no one ever eats.
The bill is still has a long way to go. The next hearing for it will give opponents of the measure an opportunity to express why the test should not be added to the panel.
The date for that hearing has not been set.