Friday, October 26, 2012

A Lot to Wrap Your Brain Around...

The last three weeks have been hell for me.  It was on October 4th that I got the call about Gavin's Exome Sequencing results.  Since then, it's been scary... frustrating... confusing... and a whirlwind.  I'm finally ready to tell all of you what has been happening.

First, I want to tell you that Gavin is fine and nothing has changed - or will change in the near future!  My quest for a diagnosis for him has been consuming, but not overshadowing my primary purpose here on Earth as his Mom.  That will never change, regardless of what may come.

It came up in the results that Gavin could have a rare form of Muscular Dystrophy.  It is called Congenital Merosin Deficient Muscular Dystrophy.  Of course the first thing I did was google it and thought, there's no way.  It just didn't seem like Gavin.  But then I got in touch with a friend who's son has another type of Muscular Dystrophy and is a wealth of information... and contacts.  She put me in touch with Anne Rutkowski, a doctor out in Los Angeles.  She has a daughter with CMD and started the website Cure CMD.  She was gracious enough to talk to me on the phone for quite a while - and we have been emailing each other back and forth since.  I told her that it looked like most kids never gain skills - like sitting up or walking - and Gavin has!  What she told me is that there is a range of signs and symptoms.  Some kids never gain skills...and some do, only to progressively lose them.  Either way, the prognosis is not wonderful. She examined Gavin's test results, we talked about his symptoms and features and she gave me a lot of advice.  We agreed that there was a check next to every symptom for Gavin - the only thing that was not checked was a CPK blood level which was pending.

In the meantime, Gavin's genetic team set up an immediate appointment with his neurologist and a neuromuscular doctor for the following week.  While we waited for the appointment, Gavin had blood drawn to check his CPK - and it came back normal, which caused everyone to pause.

We finally met with the doctors and discussed what our next steps should be.  It was discussed that Gavin really needed an updated MRI - his only one was from infancy.  And to really determine if Gavin has CMD, he should get a muscle or skin biopsy.  But we all agreed that putting Gavin under anesthesia for these tests was, as you know, quite risky.  We had to be sure it would be worth it.

I had done my research online and with the help of my friend ahead of time and found out that the expert in the country for not only CMD, but many neurogenetic disorders, was at the National Institute of Health.  His name is Carsten Bönnemann.  I went into the appointment at DuPont with an impassioned speech prepared.  I was hoping that they would refer Gavin to Dr. Bönnemann or, at the very least, ask him to take a look at all the test results.  I never had to show off my persuasive skills, though.  The neuromuscular doctor said, "There's a doctor at NIH that I'd like to check in with - to see if he'd be willing to look at Gavin."  I nearly fell on the floor.

We also discussed Gavin's results beyond CMD and his Neurologist brought up something that he thought we needed to pursue.  The exome sequencing is a nuclear test - it tests the nucleus of the cells, but not the mitochondria.  He thought that Gavin also had signs of Mitochondrial Disease.  If you google that, you'll find a range from living into adulthood to tragic endings.  Don't google it.  When I left the neurology department with Gavin, we had three plans in the works.  The first was more blood and urine - which I did with him immediately.  The other was that the neuromuscular doctor would get in touch with Dr. Bönnemann and ask if he would see Gavin.  And also, based on the blood and urine from that day, would get back to me if she thought we needed the MRI or biopsy.  And they were going to check with the genetics lab at Baylor - the ones who did his exome sequencing - to see if they could test the mitochondria.

Days went by.  Then a week.  It is very hard to be the parent (or the patient!) during this time.  You realize that there are lots of other children under their care that have equally important issues to tend to... but it's hard.  Doctors have lots of patients to think about - but I only have one to obsess over.  It's really difficult to be patient.  So, I decided to take matters into my own hands.

I looked up Dr. Bönnemann's genetic assistant and sent her an email "from a desperate Mom."  She wrote back immediately with her phone number and talked to me for a half hour about Gavin.  She told me the doctor was out of the country, but assured me she'd earmark Gavin's information for him to see.

Days went by.  Then a week.  The agony, I can't tell you.  I just wanted someone to let me know what was happening... if anything.  I needed a plan.  You can't dump information like this in our lap and expect me not to act on it.  I'm telling you, being a parent in this situation is so difficult.  But I continued on with every day... school and playing and loving and all that good stuff.  But my body was revolting from the stress and it was not a surprise to me that I felt like I was hit by a truck.

I heard from Gavin's geneticist that Dr. Bönnemann had gotten back to the neurmuscular doctor at DuPont that he'd be willing to see "the patient" she had asked him about.  She blacked out Gavin's personal info so he only saw "Patient" without a name.

Days went by.

I contacted Dr. Bönnemann's assitant again.  "Me again!"  I explained to her that I was trying so hard to be patient, but I needed to know if and when something was going to happen.  And I told her that Gavin was the patient who he had agreed to see.  I explained that we'd pretty much drop everything to head to the NIH.  She got back to me that afternoon.  She and Dr. Bönnemann had come up with a plan.

The two of them had come up with a plan!!!  Hallelujah.  The thought of the two of them discussing Gavin for a nanosecond brought me to tears.

Getting in to see him at the National Institute of Health is very difficult.  I knew this.  People come from all over the world.  There is a waiting list and it's not uncommon to wait over a year.  But they came up with a wonderful solution.  Dr. Bönnemann wants me to bring Gavin down to Children's National Medical Center in Washington, D.C.  He works closely with experts at that hospital and attends a clinic there once a month.  They gave me a contact there, a nurse practitioner who happens to be highly sought after and respected in this field.  She would be in touch with me to get ALL of Gavin's medical records (5 years worth) and would arrange for me to come on a day in December when Dr. Bönnemann will be there next.  She was in touch with me less than a half hour later - and I've already arranged for DuPont to ship all of his medical records ot her.

So, not only will Gavin be seen by a whole set of fresh eyes - experts in neurogenetics and rare disorders - but he'll get to see Dr. Bönnemann, too.  

It's all pretty scary.  And nothing is official as far as a diagnosis yet.  The stress, for me, has been overwhelming.  I know a lot of people will find that hard to understand.  A diagnosis won't change much - I've written about that plenty of times.  But a diagnosis will change everything at the same time. There are some diagnoses that have a shortened life expectancy - like certain types of muscular dystrophy and certain types of mitochondrial disease.  I want to know that.  And there are certain types of diagnoses that have suggested treatments and ways to help my sweet Gavin.  I want to know that, too.  Neither of these have a cure...and both are progressive...but my goal has always been to give Gavin the best life possible.

The main reason a diagnosis is so, very important to me?  Truth?  It's because for the last five years the idea that somehow I did something to make Gavin this way has eaten me alive.  A diagnosis might suck the wind out of me, but it will also allow me to begin breathing again.  That may only make sense to me.  It's just one of those things that is so, very important to me.

It is still uncertain whether we will get the MRI.  It would help if we had it before the trip to Children's National, but it's such a risk.  Meganne, the nurse practitioner from the hospital, told me we can hold off until they get all the medical records and look over them.  It may help them with the decision.  So now we wait.  And pray.

It's a lot to wrap your brain around.  It's the reason I've found it hard to write.

Thank you, as always, for loving my son.


  1. God Bless You! Honestly I have no idea what else to say because i barley understood what you wrote. Oh and good for you for fighting to get Gavin in.

  2. Keep up the fight and know you are doing ALL that can possibly be done on the Mommy end. Your family has the support and prayers of so many around the world. You are not alone.

  3. With muscular dystrophy, you never know what's going to happen in terms of gaining or losing skills. I have a very good friend who was diagnosed with myotonic muscular dystrophy about 3 years ago. At this point, they predicted he would likely be struggling to walk without some sort of assistance, if he hadn't died yet of the heart complications that come with myotonic dystrophy. He is still running marathons and doing half ironmans. So, you never know how it's going to progress.

    Keep fighting. Don't give up. There is always a chance that they are wrong, that it is something different. And it doesn't change a thing anyway. He's still the same amazing little boy that you have adored and loved with everything in you for the last 5 years. It will just give a bit of an idea of what is coming. I will continue to pray for Gavin and all of you.

    And by the way, a really great resource is the Global Genes Project. They have tons of info on most rare diseases. Their Facebook page has tons of parents of kids with rare diseases. It's a great way to connect with other families facing the same thing as you are.

  4. You are so TOTALLY staying on top of this....don't give up...I only see positive things...


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