Closing the Gap: Is Gene Therapy Our Future?

There are two thoughts that ran through my mind when our doctor told us that our son had a rare genetic mutation:

  1. Which one of us gave it to him (or was it both of us)? – and
  2. Why can’t they just replace the gene with the correct one?

While the answer to the first question may be easier to answer for certain diseases and disorders such as hemophilia and color blindness, others are not so obvious. Does it even really matter?  Both of our children have it and while that in itself is extremely rare, it doesn’t change how we treat it or how we go forward with our research. The second question, however, it just a little more complicated.

For many people, when they hear the term genetic mutation, a picture of X-men may come to mind.  For others, they may bring up images of two-headed frogs or disfigured children from the Chernobyl accident.  But not all genetic mutations are so obvious, and a small percentage of mutations are not even harmful at all.  So when a child is born with a genetic mutation that causes a disease, one potential treatment that is being tested with today’s technology is something called gene therapy.  Gene therapy, in essence, is an experimental treatment where new genetic material is introduced into the body by the way of a vector, the most common being viruses that have been inactivated.

When a disease is caused by a single genetic mutation, that is, one specific gene has a mutation at a specific location, it is considered a monogenic mutation.  This is what our kids have.  Their type of diabetes is caused by a single mutation located on the gene that tells the potassium channel how to act.  In their case, the channel remains in the open position, where a normal person’s potassium channel will open and close in response to the amount of sugar in the blood stream.  Hence the title of this series, Closing the Gap. One thing that has intrigued me through the years of dealing with this is the possiblity of gene therapy.  Why can’t it be just as simple as going into the cells and replacing the mutated gene with the correct gene?

According to Gene Therapy Net, there are currently 248 clinical trials for disorders and diseases with a monogenic cause (what our kids have).  The bulk of these clinical trials are treating well-known disorders like cystic fibrosis, hemophilia, muscular dystrophy, and severe combined immunodeficiency (SCID, aka “bubble baby syndrome”). There are scatterings of other diseases and disorders, but I doubt ours will be on any doctor’s radar for a clinical trial of gene therapy any time soon.  One of the most surprising discoveries I found was that the vast majority of clinical trials are happening in the US alone (over 1500)! While that is encouraging, gene therapy is still very much in its infancy, but at least those big pharmaceutical companies are starting to take notice and put their money into research and development.  There are conferences taking place all over the world now with some speakers from well known companies such as GSK (GlaxoSmithKline), Pfizer, and even a division of GE Healthcare.

So maybe we are still years out from being able to use gene therapy for our own kids, but at least science is starting to move in that direction.  Maybe one day, I will put my own passion to work and discover a way to join the ranks of the scientists and work toward fixing that gene.  Who knows, maybe the future is not so far away after all!

Closing the Gap: What the Research Says

Disclaimer:  The information shared in this post is in no way meant to be a diagnosis or treatment for you or your child’s condition.  Please know that our only intention is to share our story and help others see how we have advocated for the care and treatment of our children with a rare disease.  Please consult a physician for the care of you or your child’s specific condition.

One of the best parts of going to Chicago every few years is learning about new research in the area of Neonatal Diabetes, and last year was no exception.  While we were there, attending small group meetings, holding discussions with other parents, and talking to the doctors, we were told about an article that held hope for a small group of patients in our little circle of ND.  This article we read basically showed that a researcher was able to close the potassium channels in cells with mutations that previously kept the channel open.  What was so important about this was the drug used was an anti-epileptic drug, so by definition, it works in the brain.  Up until now, we have been playing a guessing game of increasing glyburide (a sulfonylurea) in an attempt to get a dose high enough to cross the blood brain barrier.  We have had some success and seen some improvements in learning, but it’s not as significant as we would hope.

So we came back from Chicago, hopeful that we could get our neurologist to prescribe this new medicine and see if we could get better improvement on it.  However, it was not as easy as just showing him the article and getting the drug.  While he agreed with the theory, he was visibly uncomfortable with prescribing this drug.  You see, the side effects of giving a kid with absence seizures carbomazepine is that it can cause them to have grand mal seizures.  Something our doctor, unfortunately, has experienced first hand and he didn’t want a repeat performance.

So we went back and forth with our neurologist, also getting our developmental pediatrician and pediatric endocrinologist involved in the discussion.  They were both on board and agreed that, in theory, it should work and the benefits would outweigh any potential, short-term, side effects.  There were, of course, other side effects we would have to consider.  Because this medicine works on the potassium channels in the brain, would it then also close the potassium channels in the body?  And if so, would we have to decrease the glyburide to prevent low blood sugars?

Potassium Channel (K+) is constantly open in our kids’ mutation. We need to close that gap in the brain to see increased learning.

Fast forward to the end of February and Andy had, for the first time ever, a prolonged cluster of absence seizures, one right after the other for over an hour while at school.  We ended up in the emergency room, got some blood work done (that was fun with a sensory, non-verbal kid who is 70 pounds of muscle!), and basically got sent home with a rescue medicine in case it happened again.  Which it did.  And the medicine did not work.  So I think all of this prompted our neurologist to decide to try the new medicine.  At our recent appointment, he said, we obviously need to make a change in the medicine since he’s having break-through seizures, so “we might as well try it”!

So here we are, getting ready to try this medicine that only 2 (maybe 3?) other children with our same syndrome have been on.  There are no official studies to tell us what to expect.  We are, in essence, patient zero.  We will get some baseline testing done to see where his IQ is, his present levels of reading and math and overall behavior and self-help skills, etc.  Then we start the medicine on Friday.  If it works, we will possibly start Katie on it too in 3-4 weeks.  If not, we continue to search for other answers like gene therapy (not so far off according to this article).  Of course, nothing is as cut and dry as we would like to think in medicine.  There are so many other factors to consider, so many other variables that we cannot predict.  Only time will tell.

The part that is so scary about having this rare disease and being the “pioneers” in paving the way with a potential new treatment is the unknown.  I am afraid of him having a grand mal seizure and me freezing, not knowing what to do.  I am afraid that I will be biased and think I see improvement, where there may be none.  I am hopeful that he will see improvement, but don’t really know what that will look like.  I know that it will not be an obvious change like when we transitioned to the glyburide.  There will be no celebration moment, like when we disconnected his insulin pump for the first time, declaring success and knowing he would now be insulin free!  It’s not going to be like the movie Awakenings, where the catatonic patients all of a sudden wake up and start talking and seeming “normal”.  It will be a slow process.  But if it makes his life better, it will be worth the effort and the fight we just fought for almost a year to get here.

Pretty Nails To Support Children with Disabilities

I knew I loved Jamberry nails long before I even tried them and long before I decided to sell them. Part of what I love about the company is that they are all about giving back to people in need. They carry certain wraps called charity wraps that they donate $2 from each sale to that charity. Now, for a limited time they will be teaming up with the Now I Can Foundation to raise funds for families in need. 

This foundation, based in Utah, helps children overcome some of their disabilities through the use of intense physical therapy. Children often come to their facility for 3 or 4 week sessions of therapy. With 4 hours of therapy for 5 days a week, children can reach goals that would normally take them a year to achieve. 

Obviously this can be very costly and insurance doesn’t always pay for all of the expenses. So Jamberry nails has created a charity sheet that will be sold from December 3rd through December 31st. For every sheet of wraps sold, $2 will be donated to the organization. This will be used to help fund grants for families in need of financial assistance to receive these therapies. Please consider supporting this wonderful cause that is close to my heart. I don’t know if this is something that would benefit children like mine, but it may be your child or someone you know that could. Help these children reach their fullest potential. 

You may order these wraps starting December 3rd at my Jamberry site. Christy’s Jamicures

Here is a picture of the wraps on hands.