Breaking Through the Barriers of Dystonia

HISTORY

In early March 2011 when Colin was 6, you would think a completely normal healthy boy as you would watch him race around the bases in his first week of his 3rd year of baseball. He was the fastest on the team, and by all means, took his sports very seriously. Already at the age of 6 with his extreme mental intensity and natural talent for sports of any kind, he was well on his way.

It was along the second week of Baseball that something unexpected started to happen with Colin. He began to have a slight limp in his right leg that at the time we thought maybe he hurt it at school. Over the course of days it developed quickly into a large and very dramatic limp. We asked him several questions about it with little information in return, but wrote it off as growing pains and pinched nerve.

We took him to his Dr Apr 1st when we explained the limp but I also told him of the slight muscle twitch I had noticed in his left foot back in October of the previous year. It was something that concerned me at the time, but apparently not enough to mention to his mom. After a quick checkup he found a clean bill of health physically. He took some blood which all came back negative for heavy metals and several other tests. We were then referred to the Orthopedist, with a soft mention of Neurologist as a subsequent referral.

At the Orthopedist I was hopeful, and still believed everything could be explained away. The twitch was just a pinched nerve and the limp walk (now in both legs) was something like minor pulled muscles, growing pains, or stress from Baseball that would go away soon. Unfortunately the Orthopedist found no pinched nerve and there were no problems with the skeletal muscles or bones, spine or brain that could be seen during examination or at x-ray. As the truth set in and anguish began to overcome us, the fact that our little 6 year old son has a problem inside his brain began to take shape, along with the likelihood that it would not be curable and maybe not even treatable. We were referred to neurology where there was a 6-8 month waiting list!

This was a video I took for the neuroligists. It chronicled through only a couple of months after it first started:

DIAGNOSIS

As Colin s gait became increasingly difficult and began looking more like Cerebral Palsy, we made the decision to bypass all this and take him to emergency in order to speed our path to a Movement Disorder Neurologist. He had an MRI for brain and spine and a battery of other tests. The MRI was negative with all blood tests normal, but through physical examination, came back as either Dystonia or Dyskinesia.

Using meds as a means to rule out Dyskinesia, we finally got the appt with the Movement Disorder Neuro who diagnosed Colin with Dystonia. From there we needed to find out the form of Dystonia, this would take a blood test. Two months later it was confirmed as the blood test for the DYT1 Gene tested positive, meaning he has Early Onset Primary Generalized Dystonia, or Torsion Dystonia.

The DYT1 Gene is a mutated gene that causes Dystonia and is the primary form of it. This was heartbreaking news for us as we knew there is no cure and we felt a little helpless at the time. Later we found out the gene was inherited by his mother, who because the gene only has a 30% chance of causing the condition, was able to avoid the condition.

DYSTONIA

Dystonia is characterized as purely a physical condition (movement disorder), that while it is progressive it is not degenerative in any way. Meaning that while the physical disorder does get worse over time to the point of complete disability, it is not life threatening, nor does it affect the condition of the mind or the ability to think like other similar movement disorders such as Parkinsons or Huntingtons.

As it is today – Colin has been on medication since June. We have tried 3 different types two of which he is still on, Artane and Baclofen. The medications are a mild control enough to allow him to “get around”, but only for a very short period of time before it really falls apart (like 20 steps). The condition is in his legs, hips and has progressed to his right arm impacting his ability to write. Two weekends ago we purchased a wheelchair for use at school since it has become a safety concern. He no longer gets to play at recess with the rest of the kids for safety concerns and because Colin has a tendency to throw caution to the wind.

A BRIDGE TO A CURE

In November of 2011 we took Colin to San Francisco for a consultation with a neurosurgeon who performs a special kind of surgery that reduces the symptoms of the condition. It is called Deep Brain Stimulation or DBS. DBS is a technology that is often compared to a pacemaker for the heart, although its application of the electrical signal is different. With the pacemaker a heart rhythm is kept, DBS however uses the electrical field to effectively block the neuro pathway where the erroneous electrical messages travel in order to cause the condition.

The brain implantation part involves the implantation of two electrical probes deep into the Basal Ganglia (part of brain that controls movement). It is roughly the mid-point of the inside of your head. Part two of the surgery consists of two battery pack boxes implanted into the chest, one for each probe. These battery packs are also signal generators responsible for sending power and signal to the probes. Once the boxes are surgically implanted, the surgery is over, but the correct configuration still needs to be determined. It can take anywhere from one to several months of trying different combinations before finding the correct setting for the subject, everyone is different. The frequency and amplitude are set through the PC connected to a magnet that controls the devices behind the skin.
DBS is not a cure, but is often referred to as a bridge to a cure. Depending on the subject, it can reduce or even nearly eliminate Dystonic symptoms by 60- 99%.

Colin was deemed particularly good candidate for the surgery because of his age and health, and was given the standard 60 95% improvement parameters that everyone is given. The surgery itself, and without disclosing the particularly gruesome aspects of it, is considered to be major, however with consideration to the technology used and the many of these that have been performed, it is considered routine. His age, speed at which we are having it done after intial symptom onset (just days over his year anniversary as of writing this), primary condition aspect of it (the gene), and the nature of his symptoms type, all bode very well in his favor to have outstanding results.

MOVING FORWARD

We leave for UCSF in San Francisco on Wednesday, March 28th. Colin s first implant surgery, the brain probes and wires that go to the boxes will be done early morning on Friday, March 30th. Dr. Philip Starr of UCSF will be performing the DBS surgery for Colin. He is highly recommended and is considered one of the best (if not the best) and well equipped DBS Nuerosurgeons in North America. He pioneered the new “Interventional MRI” technology which allows the surgeons to have MRI video imaging while they work inside the brain, rather than standard MRI static snapshot imaging which creates a back and forth scenario. The second surgery of the box implants into his chest will be done on Thursday April 19th.

He is headed down a long road that with hope and prayer, will allow him not only to play baseball and soccer again, but give back his ability to just be a kid again.
We will be in San Francisco for 33 days. More updates to come as they unfold.

35 comments

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    • Peggy Toomer on March 26, 2012 at 6:18 pm
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    Our thoughts and prayers will be with you and yours. May God Bless you and keep you safe throughout your surgery and recovery.

    Hugs and Love. Peggy

      • Josh King on April 5, 2012 at 3:02 am
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      Just wanted you to know that I am thinking of you.
      Your friend,
      Josh King

    • Nicole on March 27, 2012 at 2:32 pm
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    Be strong brave Colin!!! Love from Carson and family!

    • Carrie on March 27, 2012 at 2:54 pm
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    Safe travel mercies for you tomorrow as you head to San Francisco. Prayers for a successful surgery outcome & for Colin, wisdom for his doctors & strength for his parents. May he soon be back on the field doing hat he loves.

    • Nicole Lester on March 27, 2012 at 3:57 pm
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    My thoughts and prayers are with you all.

    • Kelly Semeit on March 27, 2012 at 5:47 pm
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    Our thoughts and prayers are with you all. Stay strong. Garett will be thinking of you everyday Colin. He cant wait till you come back to class. Love and prayers from Garett Semeit and his family 😉

    • Michelle on March 27, 2012 at 11:07 pm
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    Stay strong Colin!!! Conner can’t wait to see you when you get home!
    Sending love and hugs,
    The Setterbergs

  1. Hi Colin,

    Wishing you the very best with your DBS surgery. Dr. Starr did my DBS surgery back in 2000 and the results have been awesome. I have adult onset secondary dystonia due to medications. Anyway, you are in the best of care with Dr. Starr and his team.

    Dee
    Founder & Moderator of http://health.groups.yahoo.com/group/DBSforDystonia/

    • Vicki on March 28, 2012 at 2:01 am
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    I have a special fondness for UCSF, as they were the most experienced in 1979 when I had my experimental surgery there for Laryneal Dystonia. Back then before the internet it took 3 years and a trip to the Mayo Clinic in rochester to finally get a diagnosis. since they had only done 30 of the surgeries, i went to UCSF for a second diagnosis and ended up being #200 for my RLN resection resection. i was a much yonger 27 year=old adult than most cases, and I recall the immotional impact of embarassment and frustration to be so different from my peers without an explanation. Even without a cure, we are blessed to at least have some wonderful medical treatments to help improve our quality of life. Blessings to Colin and his extended family who obviously love and support him unconditionally, Vicki

    • Pat John on March 28, 2012 at 2:15 am
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    Martha sent us an email that you are going to go thru the surgery in Boston. We (Alexandra her father and I wish you and your family well). Alex had her DBS October 2010 and her battery was turned on November 3, 2010. For the most part she improved 150%. Still some down time and when she is tired you can see movements. She does have a kinked wire that we are going to have looked at tomorrow. She has had some headaches but the doctors do not think it has anything to do with her surgery….Her biggest problem with the surgery is something that probably will not faze you at all…That was the cutting of her long hair. But as we all know hair grows back and so has hers and it is even better than before.

    To Colin’s Father: I think that is great that you have created an on line message system for his updates. I would loved to have done that but there was no time. Alex and I went to the family get together in Chicago last summer and it was the most wonderful event for all the family. There were time when you did not know which child had dystonia as all of the kids and adults were having such a wonderful time. We met some wonderful people.

    What I find so helpful is all the support that we have gotten from the dystonia community. The support group that Martha leads has been a godsend and I thank every day the people that have been there to help with kind words, and a hug….

    Again good luck with the surgery…Alex sent her dad for jello after the surgery….have some jello and know we will be praying for your speedy recovery. We flew back to San Diego just a couple of days after the surgery as there is nothing like being back at home.

    Pat (Alex’s mom)….you may have seen Alex on the Doctors show last year…..

    • brandy babcock on March 28, 2012 at 3:07 am
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    Hey little cousin we haven’t met but regardless im praying for a quick and safe surgery for u in hopes that you will become the great baseball player I’ve read about, I love you and ur in my heart get better quickly little man so I can meet you soon my kids would love to meet you and play with you too. You can even help me teach my boys how to play baseball. Well we are all praying for you stay strong little buddy.

    Love you big cousin
    little brandy

    • Monica on March 28, 2012 at 3:15 am
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    My daughter had DBS for DYT1 8 years ago now-she its doing awesome and it was truly a blessing.
    We will pray for Collin. Feel free to contact me if you’d like.
    Blessings
    Monica

    • Teresa on March 28, 2012 at 5:37 am
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    Stay strong Colin. Madison is very much looking forward to you returning to class. We will be praying for you and your family. Lots of love, The Marriott family xoxo

    • Kristy Whigham on March 28, 2012 at 7:20 am
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    I just found your site. I still can’t believe how quickly this all came on last year. I saw that you are leaving this week. Please know that I carry you all in my heart and prayers. I know it is hard on all of you. We would do whatever it takes to protect our children and it kills us when we can’t do this type of thing for them. Colin is a brave little guy, and he will do well. Give him a hug for me. If he needs something to help keep him busy while in the hospital, he can email me and I will email him back. Use the school email-I check it more often!

    Lost of love, best wishes, and prayers,
    Kristy Whigham 🙂

    • Darien Webster on March 29, 2012 at 6:02 pm
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    Hang in there Colin, Mom and Dad! Chloe misses all of you…I hope you are settled in up there…Hurry back, my boys want Colin to come over to play!

    • Debbie McLaughlin on March 30, 2012 at 4:00 am
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    Colin, I will be thinking about you tomorrow. We all miss you. I miss my lunch buddy, hurry back.
    Lots of love and prayers. Mrs. McLaughlin

    • Debbie McLaughlin on March 30, 2012 at 5:27 am
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    Hi Colin, I will be thinking of you tomorrow. Hurry back to school we all miss you.
    Lots of love and prayers. Mrs McLaughlin

    • Steve & your big brother on March 30, 2012 at 5:12 pm
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    Colin we love you so much & we miss you . Can’t wait to see you in San fransico. We are all praying for a speedy recovery. See you in two weeks.

  2. Colin me and your brother miss you so much . We are all praying for a speedy recovery & the day I can see you play baseball again
    . Because I know I will . Love you so much. See you in two weeks. Babe

    • Grandma on March 30, 2012 at 6:38 pm
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    Hi Colin, you are our little angel and we love you so much. We will be so happy to see you soon.

    • susan palmer on March 30, 2012 at 7:08 pm
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    My husband and I heard about you Colin while at Keith & Susan Mclain’s house. My husband Donald is Susan’s brother.
    I just watched your video’s. You are quite the baseball player. Donald would love to have you on his team some day.
    Eat alot of icecream while your in the hospital.
    Lots of Love to you and your family

    • Jennifer Friedman on March 31, 2012 at 3:25 am
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    Colin,
    I am so proud of you!!! I am glad step one went well and can’t wait to see you back on the field! Best wishes for a speedy recovery.

  3. Good morning sweetheart. It’s your uncle Steve . I’m so proud of you, you did a good job . I wish I was there to give you a chocky done done. Hey can I tell you something ? I LOVE YOU. Have a good day. Call me baby when feel up to it. Your bro. Says hey babe………..:)

    • Grandma on March 31, 2012 at 5:05 pm
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    Hi Colin, hope you feel better this morning and we want you to know we are so proud of you for being such a brave little boy. With love grandpa and grandma.

  4. High buddy . It was so nice to hear your presious voice. My tears are of joy for clearing your first hurdle. But let’s finish we’ve started . Your not alone . God is with you. He has to be , because your are angle. Your brother and I miss you . See you in thirteen days and counting. Can’t wait to see you in San Fran. Happy april fools day.

    • Ms. Briz on April 2, 2012 at 12:47 am
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    Hello Colin!!
    Your classmates and I miss you! I hope you enjoyed our poster. I can’t wait to have you home and back in the classroom. We all love you and are thinking of you daily. You look great!

    Ms. Briz

    • Carol Flynn on April 2, 2012 at 4:31 am
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    What an awesome blog!! Well done with a lot of solid dystonia information & Colin’s personal story. Dad’s video is great. Colin, I found out about you & your parents from an email from Martha Murphy. You will be added to my prayers and I look forward to another video in the future where you having a great time playing baseball or soccer. I’ve always heard Dr Starr & his team are THE BEST, so I know you are in good medical hands. Get well SOON. Mom & Dad, stay strong. By the way, I have adult onset Cervical Dystonia & am a retired nurse & I lead a dystonia support group in Fairfield, CA.

    • Carol Flynn on April 2, 2012 at 4:33 am
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    What an awesome blog!! Well done with a lot of solid dystonia information & Colin’s personal story. Dad’s video is great.

    Colin, I found out about you & your parents from an email from Martha Murphy. You will be added to my prayers and I look forward to another video in the future where you having a great time playing baseball or soccer. I’ve always heard Dr Starr & his team are THE BEST, so I know you are in good medical hands. Get well SOON. Mom & Dad, stay strong.

    By the way, I have adult onset Cervical Dystonia & am a retired nurse & I lead a dystonia support group in Fairfield, CA.

    • Denise Moe on April 3, 2012 at 4:59 pm
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    This is a wonderful blog. Kudos to whoever put this together!! It is so well organized and very informative. Now that I understand more of what is going on, I can better explain it to Aaron. Knowledge is power!

    I remember speaking with you about the surgery, but had no idea that you were going to SF!!

    You are great Warrior Parents!! It sounds like Colin is in good hands.

    Mom, Dad, Colin (and doctors) you are all in our prayers!

    stay strong,
    Moe Family

  5. Colin,
    Be strong – your classmates miss you – especially Kethry 😀
    Keep us posted on how things progress Mom/Dad, our prayers are with you.
    -Katrina Schreiber (Kethry’s Mom)

    • Eileen on April 10, 2012 at 8:21 pm
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    Hi
    Glad all is going well for Colin and family. You are all still in our prayers, personal and at church.
    Love ya
    Eileen

  6. i would like to thank you for the efforts you have made in writing this article. thanks for your blog, big help.http://www.camacasal.com

    • Grandma on April 19, 2012 at 12:29 am
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    Hi Colin, we are so happy your surgery will soon be over. We love you so much and are happy you will soon be home. With all our love Grandpa Grandma and Keeper.

    • Eileen on April 20, 2012 at 8:14 pm
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    WOW – sooooo glad the second surgery went well – Yes, prayers, for Colin and parents, are there and really helping. Can’t wait to see you.
    Love and Kisses
    Eileen and Dave

  7. Wow, I just found this website which was sent out in an email blast I receive from Martha Murphy. Your story is so very similar to ours! Our daughter also has the gene DYT1 which she received from her mother (me), had the same symptoms as Colin and also had DBS by Dr. Starr at UCSF. It has been three years and she is doing great! I wish Colin all the best and will continue to follow your site. Emily’s journey can be followed at http://www.emilybethsjourney.blogspot.com.

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