Christine Miller is petite; her oldest daughter is petite; so when her youngest, Stella, was still very little at 12 months old, she wasn’t immediately concerned.
But three months later, in March, Stella was still not growing. In fact, she had lost a little weight since her 12-month appointment.
It took a month-long hospital stay for the Miller family to find out that their little girl had an extremely rare metabolic disease, called cystinosis.
Now, everything Stella consumes comes to her through a tube into the 20-month-old’s belly, and some day she will need a kidney transplant.
Because her condition is so rare – and so serious – Stella’s life-sustaining medications are jaw-droppingly expensive, including a bottle of eye drops that costs $2,000 a week.
And keeping up with her medications, feeding schedule and side effects has become a full time job for her family.
With continued proper treatment, Stella can have a reasonably normal childhood – and from her standpoint she already does.
The cherubic little girl hardly seems to notice the tube extending from her abdomen, her mother says.
‘She doesn’t know any other way,’ Christine told Daily Mail Online.
‘I don’t think she remembers life before a [gastric]tube, before around-the-clock medications and weekly appointments.’
But Christine does.
She remembers waiting 28 days in the hospital with her daughter as vile after vile was filled with Stella’s blood and tested for all manner of conditions – just to have them ruled out, one after another.
Christine and her husband, Nate, learned only a little bit at a time about what was happening to their daughter.
They discovered Stella had Fanconi Syndrome, which was causing her kidneys to malfunction and fail to properly absorb metabolites. Instead, components of her nutrition are washed out of Stella’s body with her urine.
But doctors suspected more was going on.
Finally, a vile of Stella’s blood was sent to one of only two labs in the US equipped to diagnosis cystinosis. Stella’s blood had the markers of the disease.
It only affects about an estimated 2,000 people worldwide, but symptoms become evident early.
Just like Stella, children with cystinosis fail to gain weight and therefore strength to walk in their first year of life.
Her diagnosis meant that the Miller family and their medical team could get Stella back on track, but it also meant that their routine was about to radically change.
‘Since May, we’ve been learning how to manage our new lifestyle, it’s been a life-altering experience for us,’ Christine says.
Stella needs 10 different medications, and because she is so young, getting her to swallow them was going to be a challenge.
And the key drug to treat cystinosis – cysteamine – is foul-tasting, so patients sometimes fail to take it.
Plus, Stella had developed ‘food aversion,’ so she would barely eat, and the medication side effects made it worse.
‘To keep her healthy requires a very strict medication schedule. We’re giving her medications 10 times throughout the day through the G-tube in her belly. She doesn’t eat by mouth, so it’s been life-saving,’ says Christine.
Christine was a second grade teacher in Port Clinton, Ohio, where the family lives. But Stella’s treatment and feeding schedules are so demanding she was hesitant to hire anyone else to look after her daughter.
So Christine is taking this year off from teaching.
When she’s not making sure that Stella is getting her medications, Christine is fighting with the Miller family’s insurance company – Aetna – to make sure they have access to the drugs in the first place.
‘It’s a never-ending battle,’ Christine says.
She claims that Aetna has tried to argue that it isn’t obligated to cover some of the most crucial things to keeping her daughter alive – like her formula, for instance.
‘They say that a lot of things she’s taking have over-the-counter ingredients, so they’re just telling us these are over-the-counter [items],’ Christine says.
‘But we can’t just go get them at the store, they have to be mixed in the pharmacy.’
Stella’s baby formula is made by Pediasure – one of the biggest brands for over-the-counter formula – but it isn’t the $10 a pack bottle you can buy at the grocery store.
A month’s supply of gastric tube-formulated food is $600.
‘I can’t buy it in the store, I have to buy it from a medical supply company,’ says Christine.
She estimates that about half of the medications that Stella needs aren’t covered, costing her family $400 a month out of pocket.
Fortunately the some of the most expensive ones are paid for by Aetna – at least until the company finds a reason they shouldn’t be.
Among these are eye drops to that on their own would cost $2,000 a week.
Stella’s body doesn’t properly metabolize an amino acid, called cystine, so the substance builds up and forms crystals to form that could blind the little girl if her parents didn’t constantly administer the drops throughout the day.
In spite of it all, Stella remains a happy child, smiling easily and chasing after her eight-year-old brother, Christian, and five-year-old sister, Zava, eager to do everything they do.
Though Stella’s diagnosis brought immense change, Christine has taken comfort in being able to connect with other families of children with cystinosis, learning that these children can lead happy, active lives well into adulthood.
‘I’m not really sure what to expect as she gets older,’ Christine says, but she hopes that a desire to get rid of the feeding tube will encourage Stella to eat by mouth as she gets older.
‘But we rally around her and make sure she has the best life she can. We’ve been forewarned about some things to expect’ – like the kidney transplant Stella will one day need – ‘but for now we’re enjoying those milestones she’s meeting: talking, singing, dancing,’ Christine says.
‘From the outside looking in, you would never guess that that little girl had such big challenges ahead, or daily struggles.’