The Fight

Armed with Information

This weekend was a fantastic learning experience for us.  By some strange coincidence, we were lucky enough to have some of the worlds best minds working on MD right here in Colorado.   There was a "regional roundtable" put on by the Parent Project for MD which covered research, treatment, and other social  issues for MD. 

My first impression is that the people involved in battling this horrible disease are quite amazing.  I know now that we are not alone in our fight, and we have some great resources to draw upon.  After spending all day saturday with an incredible group of people, i feel much better. 

That said, i also learned a lot about the complexities of this disease, and why this is such a hard problem to tackle.  First off, it is treated as an "orphan" disease, since it is so rare (there are approximately 10,000 cases in the USA-  which is misleading, since most boys die in or before their 20's)  However, it is the biggest killer of young boys.. that should mean something, right?  Since it is so rare, the treatment path does not represent a big financial opportunity for the drug industry, which means it doesnt get the attention it deserves.  On top of that, it is an extremely complex problem, and since mutation types vary so greatly on a case by case basis, there arent many strategies that work for everyone that has the disease.

After this event, we are much more comfortable in the fact that we are not alone.  There are many parents out there, some we have already met and spent time with that are in the same boat as us, and they are all incredible people.  In addition to the parents, the people at PPMD have given us hope that things arent so bad.  The founder and head of PPMD, Pat Furlong, is an amazing woman who must be the most knowledgable person about MD, treatment, research, and political issues.  Pat has been doing this for almost 20 years, and we are very lucky to have her.  In addition, Pat works closely with Dr. Lee Sweeney, who is the Chairman of the Dept. of Physiology at the University of Pennsylvania.  Dr. Sweeney is an expert in MD research, and has been hard at work on this problem since i was a student at Penn.  I look forward to spending time with them as progress down this journey.
 

Now what?

OK, so we have spent the last month going through the roller coaster of emotions, the "why us" syndrome, feeling sorry for ourselves, figuring out how to not make other people uncomfortable with our situation, enraged, getting educated, ready to mobilize, fight, hating Bush for setting back stem cell research, the list goes on and on.

Support from our family and friends has been absolutely incredible.  Thanks to everyone for everything.  Took the kids on a wonderful family vacation to the beach and Disneyland (Thanks Dave and Mia) and spent a little time enjoying life.

Now, its time to get rolling.  We know what Jake has, and now its time to learn and get into action mode (oh yea, i have to run a start up company too, and Allison has to take care of the kids)  Thankfully, we are lucky to have the Parent Project for Muscular Dystrophy bringing all the major researchers and important people for MD all to Colorado tomorrow.  I plan on learning a lot more and talking to some of the world's best minds on the issue.  We are lucky to have this going on right here in my back yard at this time.

So we have started the process of mobilizing the troops.  We are in the process of setting up our foundation, which will support research, education, awareness, and treatment for Muscular Dystrophy and Down Syndrome.  We are applying for 501(c)3 non-profit status, so we will soon have the vehicle to raise money to support our causes. more on that later.

So, for everyone who has generously offered to donate money, just give us a little time to get this going, and we will gladly take it and put it to good use

Duplication of Exon's 3-20

Yea, I know what you are thinking, I didnt know what the hell that means either.  This is the part where my 3 years of advanced high school biology with a focus on genetics should come into focus, but oddly enough, i dont remember too much of that.

We have, however learned a great deal in the last month since this all started, and I can see that i will be learning genetics all over again. 

We got Jake's genetic diagnosis, and this is what it is, a duplication of exon's 3-20 on the gene that creates Dystrophin. essentially, this means that  when Jake's genetic material is being read like a sentence, there are added letters within the sentence that render it unreadable, and therefore, the Dystrophyn protein isnt being created correctly.  Dystrophin in muscle tissue is like the steel belt on your tires, it protects them from wearing  down.  Without it, muscles will deteriorate until they become debilitated.

See, the problem with MD is that  there are so many different types of genetic mutations, the treatment strategies are so diverse.  There have been many promising developments recently, including human trials for new treatments, but most of these arent relevant for Jake, as they are for deletions of exons, or premature stop codons (dont ask) rather than duplications.

So that is how Duplications of Exons 3-20 has become one of the most important phrases in our life.

The Beginning...

OK, so for a long time I have consciously tried to avoid getting into the blogging “thing” but despite my repeated attempts to stay anti-establishment while everyone I know has been jumping into the blogging world, I realize that this is the best medium to get my message across in mass, and educate as many people as possible to what we are doing.

Let me start from the beginning. Forgive me, but this is going to be an extremely long post. My name is Brian Levin, I am 34 years old, a wireless software entrepreneur living near Denver, CO. My wife Allison and I have 4 year old triplets, 2 boys and a girl, Sam, Jake, and Alexa. We are lucky to have the most beautiful, fun, and amazing kids in the world. They provide us with unending joy, boundless energy, and have an incredible zest for life.

To articluate our situation, I thought it would be best to tell you all the same way we told our friends and family as our knowledge of events has unfolded. Therefore, let me recount by reprinting the emails I sent out when we learned what was going on: 

-----Original Message-----
From: Brian E. Levin [mailto:brian@mobliss.com]
Sent:Friday, November 22, 2002 11:31 PM To: brian@mobliss.com
Subject: The Levin Family

To our Family and Friends:

As most of you know, Allison and I have had a pretty hectic and amazing week, capped off with the birth of our 3 beautiful children.  The kids are battling the problems that all premature babies have, but rest assured they are doing very well, and getting better every day.

A few days ago, we learned that our son Sam was born with a condition called Trisomy-21, commonly known as Down Syndrome.  This means that Sam has an extra chromosome in each of his cells.  Children with Down Syndrome have some physical differences, and cognitive ability and development is hindered. We do not know how Sam will be affected by this, as it varies widely with every person.  What we do know is that people with Down Syndrome live full, wonderful, and independent lives.  They can achieve things that would amaze all of us, as I am quickly learning, and soon to witness firsthand.   

Since we found out, we have felt a wide range of emotions; shock, surprise, denial, anger, rage, regret, sadness, sorrow, fear….and most importantly, love. Unconditional love for our beautiful, healthy baby, and the overwhelming feeling that our family will be strong, and overcome by the love for life that we feel, and the blessing that we have experienced by having our babies come into our lives.   Sam is the most beautiful person I have ever known, and I cant imagine what life would be like without him, or his brother and sister for that matter.

We know that the journey ahead of us will not be easy.  Raising triplets is an incredibly overwhelming task, and raising a child with DS can be difficult and taxing- when you combine the two, it may seem all but impossible. However, I feel it is best summed up by a quote we received from some dear friends that said “Life does not put things in front of you that you are unable to handle.”   

We are not writing this to get your sympathy.  Please do not feel sorry for us, or show us pity as that is not what we need, nor want right now.  What we do need, is your continued love and support as you have always given us in the past.  Help us by funneling your positive energy toward us to help us create the most caring, loving household on the planet.  We will do whatever it takes to make sure that all of our children have all of the opportunities to achieve their dreams and goals, if they work hard enough to do so. 

Sincerely,

Brian, Allison, Sam, Alexa, and Jakob Levin

So for the next 3 years and 9 months, we learned how to deal with having a child with Down Syndrome, and although we knew our situation was tough with multiples and a disability, we felt we were equipped to handle it. Early on, I was deep into building my company Mobliss, and we made sure Sam had the best early intervention and therapy possible. I eventually sold my company, and we decided to relocate from Seattle to Colorado to be closer to family. It was a good move.
Then, on one seemingly normal and insigficant Friday, our lives changed forever…. Again, the best way to explain it is in the email I sent out later that weekend.
 

---

From: Brian Levin [mailto:brian_levin@comcast.net]
Sent: Saturday, September 30, 2006 11:28 AM
To: 'Brian Levin'
Subject: Another one of life's twists and turns....
Importance: High

 

Friends and Loved Ones:

I certainly thought that 4 years ago, when I wrote an email describing Sam’s condition, it would be the hardest email I would ever have to write.  Well, it turns out I was wrong. 

What started out as a perfectly normal day yesterday turned into one of the worst days or our life.  Allison had a long standing appointment for Sam at a doctor that specializes in muscular development and therapy.  She went to that appointment, and brought along Jake as an afterthought.  To make a long story short, the doctors saw a lot of apparent signs in Jake that signaled a muscle disorder, and he immediately had blood drawn and tested

We were completely shocked and horrified to learn a few hours later that it is very likely that Jake has some form of Muscular Dystrophy… first question: 

What is Muscular Dystrophy?
The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

We don’t know what type or form, or anything about the severity at this point.  We wont know for about a month while they test Jake’s DNA.  It was likely caused by a genetic mutation, since no one in my family or Allison’s family has any history of the disease.  (Neither of us have any family history of Down Syndrome, either).  After researching MD, it was clear that Jakes muscle tightness and difficulty walking which we thought were due to prematurity were really indicators of something else. 

OK, so next question

What is the prognosis?
The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while most others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.

So at this point, we don’t know where Jake is for quite some time, but I know that he is so strong willed and such a fighter, that he will be the best that he possibly can.

OK, now here’s the really shitty part

Is there any treatment?
There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.

So what now?

As you can probably imagine, our family is completely devastated right now.  I cannot think of any worse situation for our beautiful son.  Right now it is time for us to grieve, be sad, mourn, and get all feelings of negativity out.   The thing is, we have been through this process before with Sam and Down Syndrome, so in some strange way, I feel like we know how to handle this. I am actually very glad that we did not find out about this until now, as there was not much of anything we could do… as they say, ignorance is bliss 

But you know us.  Allison and I are incredibly strong people.  We will go through this grieving period, which we hope will be brief, and then we will go on living our lives better than before.  Once the grieving period is over, we will not allow any negativity in our household, or in our lives.   As you may know, I have recently started up a new wireless business with very promising prospects.  I will continue to build this company, in fact, this situation if anything motivates me for success even more. 

What we will do is focus on our lives right now, and making the most of our time with our family, and giving Jake the opportunity to live his life to the fullest.  Rest assured, we will make sure he gets the best doctors, therapists, and help that he possibly can, and we will become strong advocates for MD. In the short time I have been researching, there are many promising Gene therapy treatments that are being developed, and we will support the research efforts, and hope that we can benefit from those efforts.   

So, how can you help?  Well, first off, don’t feel sorry for us… we know how supportive everyone is, and we thank you for your kind words and feelings.  Please continue to be tremendously supportive and generous.  Most importantly, enjoy our family with us as we make the most of life…For those of you who live out of town, come visit us.  We have a beautiful home in Denver, with plenty of room.  Also please treat all our kids they same, they are all truly amazing individuals. 

 

We are truly fortunate to have friends like you. Thanks!

Regards

The Levin Family

So that’s the beginning. Now we have to deal with it. We have been told that we are probably the only family in the world with this situation. We now know that it is a race, and that every minute counts. This will be our forum to talk about it, to educate others, and to get it off our chest. I hope that you will find it useful, and help out when we ask.