Support life-sustaining medicine for my son before it's too late

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In secret and without the benefit of experts in Hunter Syndrome, Blue Cross / Blue Shield of Tennessee adopted a policy that they are now using to deny a life-sustaining drug to children who need it, including my 11-year-old son Case.

Over the last 18 months, I've received several denials from BCBS-TN for my son's medically necessary drug Elaprase. Elaprase, or idursulfase, is a manufactured form of the enzyme iduronate-2 sulfatase - the enzyme Case is lacking. The missing enzyme is caused by a genetic mutation resulting in his disease, Hunter Syndrome or Mucopolysaccharidosis / MPS II.

Elaprase is the only FDA-approved drug for Hunter Syndrome. It is not a cure. But by giving the enzyme to kids with Hunter Syndrome, it has been shown, in clinical trials and in my nine years of experience with Hunter Syndrome, to absolutely and unequivocally slow down and in some cases, halt the physical effects of the disease.

Without Elaprase, my son's heart valves would slowly fail, his joints would stiffen, he would lose the ability to walk, his airway would narrow and his breathing would become labored, his fingers would curl, his liver and spleen would swell to twice (or more) of their normal size, his tongue would enlarge, making it difficult to eat and breath, his hearing would become impaired. He would live, day after day, in pain.

Case currently receives a weekly infusion of Elaprase over 4 hours. He has a port-a-cath through which he receives the drug. We admit, it is an expensive drug.

Elaprase is the standard of care for a child diagnosed with Hunter Syndrome in the United States. No physician would argue otherwise.

It is the standard of care for a newborn with Hunter Syndrome. It is the standard of care for a cognitively impaired child with Hunter Syndrome. It is the standard of care for an attenuated (non-cognitively impaired) child or adult with Hunter Syndrome.

Because of Elaprase, Case is walking. He is running. His heart valves are stable. And because he is on that drug, he was able to qualify for a clinical trial at the age of 3 1/2 where a more concentrated form of the drug (Idursulfase-IT) was put into his brain.

He's received that new drug in his brain for over 7 years, and again, it has dramatically halted and even reversed some of the brain decline in his disease. He receives it every four weeks via a spinal tap and since it is a clinical trial, the drug company currently pays for those expenses. But in order to continue, he has to receive the weekly infusion of Elaprase as well.

Neither of those drugs are cures for Hunter Syndrome. But then again, neither are drugs for diabetes, heart disease, ADHD, or depression.

The nature of medicine, and of scientific research, is that we treat symptoms of diseases the best way medicine allows until the science catches up and develops a better treatment, or in that rare case, finds a cure.

But most treatments, whether it's cancer or depression, simply (1) slow down or halt progression or (2) treat symptoms of diseases until that elusive cure can be found.

In fact, I run a nonprofit - Project Alive - and we are preparing to begin clinical trials for that hopeful cure for Hunter Syndrome - gene therapy, but we need to keep our boys alive and healthy long enough to get there. Keeping them alive and relatively healthy is Elaprase - the standard of care for boys with Hunter Syndrome.

But BCBS of Tennessee doesn't want to pay for it.

I carefully selected our insurance plan in September 2016 and at the time, Elaprase DID NOT require pre-authorization and my son's treatment was approved under the medical policy in effect.

But unbeknownst to anyone with knowledge relevant to such a decision, on December 1, 2016, BCBS of Tennessee adopted a new medical policy for Elaprase, not only requiring pre-authorization, but also very specific medical criteria for receiving the drug.

That new policy was not sent to us, although my personal knowledge within the Hunter Syndrome community suggests that my son is the only BCBS of Tennessee subscriber receiving Elaprase.

At first, BCBS of Tennessee only denied coverage because Case's physicians had not sought pre-authorization (because they had never had to before and this policy was newly adopted at the end of a calendar year). But once they obtained pre-authorization (after BCBS of Tennessee saved themselves $150,000 - the cost of the drug for the first 3 months of 2017), BCBS of Tennessee then retroactively denied coverage AGAIN, based on the fact that Case never had an initial 6-minute walk test (6-MWT) or percent predicted forced vital capacity (measured through a test called spirometry) and has not now shown improvement in those tests.

And now, every few months there is a new denial, going in circles from utilization management to someone else and then back again. Sometimes the claims are paid, and sometimes they're not.

But here's the rub.

My child can't meet ANY of the criteria in BCBS-TN's policy, and neither can most children with Hunter Syndrome.

A child with the cognitively impaired form of Hunter Syndrome (at least 2/3 of those affected by the disease), can't do either a 6-MWT or spirometry, even those who, like Case who are doing well cognitively. Because of their cognitive impairment (which I have coined as a combination of features of ADHD, autism, OCD, and sensory processing disorder), they generally can't attend to walking for 6 minutes straight, and any declines or improvements noted over time would equally likely be attributable to distraction as they would be to walking (in)ability, improvement or decline.

And like most children under the chronological or cognitive age of 6, they certainly can't take deep breaths and blow as hard as they can on command, three times over 15 minutes, with a clip on their nose. That is spirometry.

And by requiring documented improvement over time on one of those tests, it shows a lack of a basic understanding of the disease. Hunter Syndrome is a progressive disease that has been shown to cause multi-system decline over time. Treatments which stabilize these symptoms or even slow down the decline are effective ones. It is not even remotely appropriate to expect continued improvement over time in a progressive disease, I don't care what treatment you're using.

So by requiring those tests to initiate or continue on Elaprase, BCBS of Tennessee seeks to effectively rid itself of covering almost all patients with Hunter Syndrome. And for Case, should he be unable to receive Elaprase, he also could no longer receive his clinical trial drug either. No trial drug = rapid brain decline = death.

BCBS of Tennessee, are you counting on the drug company or specialty pharmacy to eat the cost of the drug, or do you truly not understand the disease? Is this just a money saver?

This is a BAD policy. It shows a clear lack of understanding of the disease, its symptoms, and the implications of its policy. It is not in alignment with the standard of care. Why hasn't a clinician challenged it already? Because, like I said, my son is likely the only patient to whom this policy applies. And my son's doctor engaged in a peer-to-peer review with BCBS and that was denied. And there are no local clinical experts in the disease - that would be me, check my credentials, which include recognized expertise in Hunter Syndrome, just lacking the MD. So....

I AM CALLING ON BCBS OF TENNESSEE TO RESCIND THIS POLICY. And if BCBS of Tennessee and other critics of the high cost of orphan drugs are really interested in saving money in the big picture, they should be supporting our gene therapy research at Project Alive as we prepare to begin a Phase I clinical trial by the end of 2018. Because a cure would save them the high cost of drugs year after year.