I'm getting the MODY Test!

In my previous post about what I learned at the ADA Scientific Sessions about MODY, I alluded to my own suspicions that I myself might have MODY (MODY-2/GCK in particular).   You can read more about MODY in my previous introductory post on the topic.  I first became suspicious more than five years ago, but my requests to my doctors were all denied.  I was basically told that I didn't fit the basic screening criteria.  I made several personal contacts to Kovler asking for their assistance or their referral to a doctor competent in MODY diagnosis and treatment in my area.  I actually emailed the principle staff, but my emails went unanswered.  I then tried to enroll in trials, but by this time I had started insulin so I was rejected.  Apparently there is a belief that insulin is not effective (which we will debate later).  And I've been seeing my current endo for 4 years and she is a real patient centered doctor, so she always listened attentively to my requests for MODY testing, but she always felt that my successful treatment with insulin contraindicated MODY-2.

But at my appointment in April of this year things had changed.  New screening criteria had been released by Kovler that explicitly suggested that chronic high fastings were suggestive of MODY.  And there are other things about me which are confusing, such as my seeming total invulnerability to hypoglycemia despite very tight control (my last HbA1c was 5.0%).  Sure some of it may be attributed to my strict regime and very low carb diet, but still, no hypos over a whole three month period?  And I can start feeling hypo at anything below 120 mg/dl.  So on April 29th, I walked out of the door with a requisition form for MODY testing.  AthenaDiagnostics appears to be the only commercial lab in the US doing MODY testing.  This post is about my journey to get that test done.

I still have not really processed it.  Here it is, more than two months since I got the requisition and six weeks after the blood draw.  As I said before, I had met with my endo in February and again we talked about MODY testing but she had again dismissed my request again with the claim that I couldn't be MODY because I was on insulin.  But my friend niccolo over at TuDiabetes told his story of being diagnosed with MODY-2 which gave me inspiration and additional knowledge, many thanks to him for the active discussion. I did more research and armed myself with a set of papers that all indicated that sufficient doses of insulin did in fact lower the fasting blood sugars of MODY-2 patients. But I didn't even get that far, in a sudden turn of events she handed me a test authorization and I'm now getting tested. After literally years of asking, why all the sudden am I granted this test? I have no idea.  And she basically just signed the form and said to check off whatever I wanted.

So I checked all the all the forms of MODY that Athena tests for (they don't test for all known forms).  Athena tests for MODY-1, 2, 3, 4, 5 and 8.  I actually called my insurance company up and asked about coverage. I had fears that the testing would be denied and I would be sent a bill for $6,000.  I really thought I would have to get a letter of medical necessity and get pre-authorization or be at risk of paying out of pocket. Instead they guided me to the Aetna policy bulletin which basically says that if it is coded (ICD-9) properly then it will be covered at 100%. It turns out MODY testing is approved for Type 2, but not Type 1. I frankly could not believe it. I still am not sure I believe it. I would not be surprised if I still get push back from insurance when the bill comes due, but we will see.

I really think I am lucky.  AthenaDiagnostics lists the commercial insurance plans that have Athena "in-network."  The list the show below is small but fortunately contains my plan.  I imagine other companies might approve it as "out of network" but patients would probably be liable for a percentage co-pay, which for a bill of $6,000 might be expensive.  And since health care costs are not transparent, you often can't actually get an answer when you ask how much something will costs, they just "balance bill" you when out of network and you get a surprise.

• Blue Cross Blue Shield of MA
• Blue Cross Blue Shield of NM
• Federal Blue Cross Blue Shield
• Fallon Community Health Plan
• Harvard Pilgrim Health Care
• Aetna
• Cigna

So back to my insurance.  My insurance company has policies about coverage and they have one that covers MODY.   Here is what the policy says:

Maturity Onset Diabetes of the Young (MODY)

Genetic testing for maturity-onset diabetes of the young (MODY) is considered medically necessary for the diagnosis of MODY2 or MODY3 in persons with hyperglycemia or non-insulin-dependent diabetes who have a family history of abnormal glucose metabolism in at least 2 consecutive generations, with the patient or ≥ 1 family members diagnosed before age 25.
 
Genetic testing for maturity-onset diabetes of the young (MODY) is considered experimental and investigational for all other indications.

I specifically asked her whether the insurance company applied that policy or whether the doctor was expected to apply that policy as I could not meet that specific requirements. The representative basically told me that it was up to the doctor.

Finally, it needs to be coded right. The policy says that MODY tests are covered if the selection criteria is set and you use the diagnostic code 250.0X, where X is 0 or 2. This is all the variants of ICD-9 codes for Type 2. You have to be coded as Type 2 with Aetna.

So once I filled out the requisition form it took me a while to figure out actually how to get the test done.  The information on AthenaDiagnostics site was confusing.  They do the blood draw through QuestDiagnostics so I just went to them and gave them the form.  Talk about confusion.  I basically was sent away and told to contact Athena.  So I did.  It turns out you need to send the form to Athena (I faxed it in) and they send out an order to Quest to have the blood draw done.  There is a special kit they send to do it so that it can be properly handled and shipped back.  The express shipped the test kit to me.  After it finally arrived I was able to make contact with Quest for the blood draw.  Apparently it is a subsidiary of Quest called ExamOne which does the blood draw.  I was able to schedule for them to come to my office for the blood draw and this they finally did more than 3 weeks after walking out of the office with the requisition form.

MODY is Autosomal Dominant so children
have 50% chance of inheriting the gene

So here it is, six weeks after having my blood drawn.  During that time I attended the ADA Scientific Sessions, obviously the test weighed on my mind during these times.  So I'm trying to have reasonable expectations. Maybe I will get a specific MODY-2 identification. This is something that brings be a little dread as it means my children have a 50% chance of inheriting MODY-2 and if they do they have a significant chance of having abnormal fasting blood sugars. And all my relatives with diabetes would have suspected MODY-2 as well as their kids being at risk. I may also get an answer that I have a defect of some kind (not MODY-2) but it might not inform me of much. And I may also get a finding that no defects were found. Which may only mean that I don't have any of the "known" defects, not that I don't have a genetic defect. In which case I will remain Type 2, which simple means Diabetes of Unknown Cause.

But really, underneath it all is a question about myself.  Who am I?  I've always felt that "Diabetes Doesn't Define Me."  Some people argue that it doesn't define us, but it helps explain us.  But this has caused me to personally question that.  Those of you that know me realize that I am an advocate for the Type 2 community.  What happens to me if I find out I don't have Type 2?  Can I still be an advocate for Type 2 or will it change me?  Maybe in some way my diabetes does define who I am.

Keep visiting my blog as in coming weeks I expect to hear the results of my test and share my feelings on the result.