Evan's Test Results

We received Evan's test results on Friday, September 20th.  Even though we were told we would receive them on September 3rd, and then the 17th, and then the 18th, and then the 19th (ugh!) getting the results on the 20th was the fastest Dr. MacDonald had ever gotten results from an Athena Diagnostics lab before.  It's just so hard to wait!  Especially when you know that your baby may be getting treated in the wrong way.  And that was the case in our situation!

I got home from picking Julia up from preschool.  We were just finishing lunch when the phone rang.  I rushed to answer it, hoping it was a call with our test results, but it was just Jeremy.  I told him jokingly not to call anymore because it gets my hopes up about Evan's test results.  The phone rang five minutes later, and right away I thought it was probably Jeremy.  It was Doctor MacDonald!  I answered, trying to hide the hopefulness in my voice.  "Shana, have you heard?"  "No, I haven't heard.  Have you?"  "Yes!  We have results.  I have good news for you!  Very good news!"  It sounded like he was trying to hold back tears (have I mentioned that I love this man?!?!?!).  Doctor MacDonald told me that he was out of his office today, but his secretary had gotten the results and had faxed them to him.  He was in his car heading up north.  He shared this information with me about Evan's gene mutation:

Evan has a mutation on his ABCC8 Gene.  When they sequenced this gene in Evan's DNA test, at sequence number 631, one nucleotide was coded wrong.  A C was replaced with an A in the sequence.  And that one little mix-up prevents Evan's cells from releasing insulin into his blood stream.  So his body is making normal insulin, but the Beta cells, the cells that are responsible for releasing the insulin into the blood stream, can't do their job because of this mutation.  The Beta cells have receptors on them.  The receptors become stimulated when the body needs to release insulin into the blood stream.  The receptors then activate the potassium channels to release the insulin into the blood stream.  I think of the potassium channels as little slides.  The insulin slides from the Beta cell into the blood stream via the potassium channel.  So Evan's receptors never activate these channels, so the insulin is never released into his blood stream.  Now that we know this is the problem, we can give Evan a medicine called Glyburide.  The Glyburide acts on the sulfonylurea receptor, which activates the potassium channel, which allows Evan's insulin to be released into his blood stream.  It is a pill, but Goltz pharmacy knows how to compound it for us, and make it a liquid suspension. 

God has been at work so much for our family lately!  Neo-natal Diabetes Mellitus (NDM) is so rare, but about three weeks ago we found a family living in Rollingstone with a five-year-old girl who has a form of NDM.  She also has a form that can be treated with this medicine.  Until we met this family, our doctor didn't know if Glyburide could be a liquid suspension or not.  This family shared everything they knew with us, and let us know that Goltz pharmacy was willing to compound the Glyburide for them.  I am friends with a few school nurses, and one of them came to our knitting group one night and asked me a question that most people don't ask because they don't know much about NDM.  She asked me if Evan's diabetes was monogenic.  I got wide-eyed and said, "Yes....why, do you know about this?  Have you been researching it?"  And that's when she told me of the new student on her case load who was diagnosed when she was just weeks old.  Right away I asked my friend if she knew if this girl was on insulin or medicine, and she said the girl took a liquid medicine.  I was so excited!  We didn't even know if Evan had a type that could be treated this way yet, but just knowing that it was a possibility was great news.  My friend told the family about us, and they really wanted to connect with us.  My friend told me the family's name, and I came upstairs right away to tell Jeremy because she mentioned that the dad worked at Fastenal.  Jeremy's jaw dropped.  "I know him like the back of my hand!"  he said.  He even remembered this dad talking about his daughter's health concerns a while back when they were on a sales call together.  A small world?  Yes, it is.  But it is also a world where God is at work even when we don't know it.  When we first got Evan's test results we were told that no other child on record had his specific mutation on gene ABCC8.  But after further research, Doctor MacDonald found out of a boy in Europe who has the exact same gene mutation as Evan and is being successfully treated with Glyburide. 

I cannot even begin to express how blessed we are to have Doctor MacDonald as our doctor.  From the day we met him he has treated us like family.  I think he has broken down all boundaries doctors normally establish in their relationships with patients, and we are so glad he is willing to do that with us.  We have had his cell phone number from day one, and call him regularly on Monday and Thursday to go over Evan's blood sugar numbers and insulin plan.  We can also call him any other day or time that we need to.  "Just don't call me at 3 in the morning.  If you need to call me at 3 in the morning, maybe you should be calling 911 instead," he told us.  With this new medication switch we have been calling him about every three hours, from 6am to 11pm.  He even tells us when he'll be on vacation with poor service, or when his wife is trying to get him to go to a movie.  Once when we were scheduled to call him, he answered his phone but asked to call us back because he was out for a run.  And once he was on his bike, riding from his clinic to his lab.  He is a gift from God, that is for sure.

I will talk more about Evan's switch from insulin to Glyburide in a different post.