Time to share some good news...

Evan has not had an insulin shot since 5:30pm on Halloween night!  The oral medicine that is supposed to be helping his cells release insulin finally started working.  We're not sure why it started working all of a sudden, but we have a couple guesses.  Either his insulin cells were in a growth period for a while there, and all of a sudden there are enough of them to release a good amount of insulin, or it could be because during the night between October 31st and November 1st we decided to stop reacting so quickly when we saw a high blood sugar, and instead of giving insulin right away we just waited a few hours to see if the oral medicine, Glyburide, would kick in.  Maybe the medicine was working a little bit all along, but because we were also giving insulin shots, his cells didn't do as much work as they could have been doing because the insulin shot was doing all the work instead.  Whatever the reason, we are so relieved that the medicine is working for him.  Not because we didn't like giving shots (but really, who would want to give 8 shots a day to a sweet little baby?) but because according to his DNA test, his body was producing insulin.  We shouldn't have had to be injecting it into his body.  His mutation was keeping his cells from being stimulated to release insulin.  The oral medicine should have been stimulating his cells to release his own insulin.  When the oral medicine wasn't working for Evan, it made us wonder what else was wrong in his body.  What else was going on in there that was keeping the medicine from working? 

Being able to control Evan's diabetes with an oral medicine instead of insulin injections has its ups and downs.  It is nice not to have to give shots.  The Glyburide does have to be kept in the fridge, just like the insulin did, but some day, when Evan can swallow a small pill, we won't have to worry about always traveling with a cooler bag, or having a decent working fridge in a hotel room if we are out of town.  The Glyburide does not work perfectly, just like the insulin.  It is hard, or maybe it's ok to say impossible, to predict how it will affect Evan's blood sugar throughout the day and night.  He will still have very high blood sugars at times, and sometimes very low ones.  So we still have to check his blood often.  We hope that when he is older he will be able to feel when his blood sugar is going too low or too high so he can tell us before it gets to a dangerous level.  Giving an oral medicine is also tricky with Evan because he still spits up.  The medicine is a nice green color, so we can usually tell if he has spit up his medicine or not, but we can't give him any more if he does spit it up because it's impossible to know how much he has spit up.  And one side effect of this medicine is hypoglycemia, or low blood sugar.  It would be dangerous to try and guess how much he spit up, because if we gave too much, he would go too low.

Evan still has monogenic diabetes, his diabetes is just different than type 1 and type 2.  There are types of monogenic diabetes that do go away as a child gets older, but we have no reason to think Evan's diabetes will go away some day, so we don't usually dwell on that idea.  If you want to know a little bit more about the three types of diabetes, you can keep reading.  I will explain the three types in the simple way in which I learned while we were in the hospital with Evan.

Type 1 Diabetes- Type 1 diabetes is an autoimmune disease.  The body starts making antibodies against, or attacking its own insulin cells, and eventually the person needs to inject insulin to control blood sugar.

Type 2 Diabetes- Type 2 diabetes seems to develop later in a person's life, but has been starting to show up earlier in life these days.  When a person has type 2 diabetes their body is not able to use its insulin well enough on its own.  Some people can control their type 2 diabetes with diet and exercise, but not everyone can.  Some type 2 diabetics use oral medication to help their body use its insulin, and some type 2 diabetics do end up needing to inject insulin.  Some people call type 2 diabetes a "lifestyle disease," but you can be physically active and eat healthy and still have type 2 diabetes.

Monogenic Diabetes- Monogenic diabetes has many different forms.  When a person has monogenic diabetes, one of their genes is affected and has a mutation on it.  Some people get this gene mutation because it runs in their family.  Some people, like Evan, have this mutation show up spontaneously, with no known cause.  Monogenic diabetes is the rarest type of diabetes, affecting 1 in 500,000.  Depending on the mutation a person has, their specific mutation could make their disease even rarer.  Evan, for example, has a mutation on his ABCC8 gene called Q211K.  There is only one other case of this exact mutation reported in the whole world.  So we really don't know what Evan's future will be like because there is not enough data to show what children with this mutation typically go through.  From what I have learned, there are three main problems that can happen in the body when someone has a form of monogenic diabetes.  Some people have a mutation on their insulin gene, which makes the body produce insulin cells that are shaped wrong, and the body cannot use them.  A person with this type of mutation would be insulin dependent, and would have to have insulin injections for the rest of their life.  Another form of monogenic diabetes affects a gene that is responsible for the function of the potassium channels that we have on certain cells in our body, including the cells in our pancreas.  This type of monogenic diabetes can usually be treated with oral medications.  The third form of monogenic diabetes, the one Evan has, affects a gene that is responsible for a part of the cell called an SUR Receptor.  In the pancreas cells, the SUR receptors tell the body when insulin needs to be released, and how much should be released.  Evan's SUR receptors do not work because of his genetic mutation, so his body was never releasing the insulin it was producing, or at least not consistently and in the right amounts.  People with this type of mutation can be treated with insulin, but they can also be treated with oral medication.

Jeremy and I know the most about Evan's type of diabetes.  We are so lucky to have a doctor who teaches us so much about this disease.  Many people with monogenic diabetes have other problems, like behavior issues, developmental delays, and learning disabilities.  Some children don't talk or walk until they are over 8 years old, or at all, ever.  The cells in Evan's pancreas have SUR receptors that don't work because of his mutation, but there are other cells in his body that have these receptors, too.  For example, our brain cells also have SUR receptors.  Some children have very severe mutations, and so the cells in other parts of their body are affected, too.  We aren't sure yet how severe Evan's mutation is, and there is really no way to know how severe it is until we see if he reaches different developmental milestones.  Right now we know he does have a developmental delay.  He did not sit up until he was 7 1/2 months old, and he just started babbling and talking baby talk at almost 9 months old.  He has had low muscle tone since about 3 months of age, and we are still working on increasing his muscle tone.  He is not a fan of rolling over, or being on his tummy because working those muscles is so tiring for him.  A physical therapist, occupational therapist, and a birth-three teacher come to our house every Wednesday to work on different things with him.  All of these delays could be because he had a late start in life.  For the first four months of his life he had diabetes and we didn't know it, so it wasn't managed.  He was always sleepy, and probably didn't feel very good during those first few months.  So maybe he just needs some time to catch up now that he is feeling good.  Or, his mutation could be severe enough to be causing these problems for him.  Either way, we are so glad the Glyburide medication is working.  It will help all of the cells in his body function better, so can only help these developmental delays.  Another unknown we are dealing with on a daily basis are Evan's sleep issues.  For some reason, ever since he was born, he will go down for a nap or for bed time, but wake up screaming in terror.  Sometimes this happens 15 minutes after he's gone to sleep, and sometimes it takes as long as 45 minutes to happen.  Some days it happens on and off during his entire two hour nap, and some nights it happens all throughout the first few hours he is sleeping.  Many children with monogenic diabetes have sleep issues, but we don't know a lot about that yet.

Our life is not easy right now, but we know God is with us and helping us.  Our Endocrinologist, Dr. Michael MacDonald is surely a gift from God.  Evan's personality, easy going attitude, and patient spirit are gifts from God.  Evan has been given two smart, caring sisters who will do nothing but help his development.  Julia and Claire have been given a brother with special needs, which will help them be more understanding and receptive to the needs of others as they grow up.  Jeremy and I have each other, and supportive friends and family.  We could let this change in our lives bring us down, and at times it does, but we thank God every day for the trials we have been given.  We know it will do nothing but strengthen our relationship, strengthen our family bond, and strengthen our faith in God.  What we are going through can be very overwhelming, but it is not as bad as what other people in the world are enduring.  We are thankful for every part of our lives, and we feel we have been blessed with so much good.