Well it’s been over a year since Colin had DBS surgery and I’m so happy to say he is better then ever! He signed up for baseball and is enjoying every minute of it. It’s hard to believe that this time last year he was in a wheelchair and could not play baseball. Colin had additional programming in March and they did a complete work up as we had noticed some areas not improving. What we found out was that the pulse width and frequency was up too high. They turned down both, and now he is doing so well and it’s so exciting to see. He even told me today that he only feels a slight twitch every now and then in his arm and foot. This is something that I don’t even notice and I don’t think he usually does either. We are scheduled to go back in 6 months. Since Colin is doing so well and just being a normal kid again I may not be posting as much. However, I do hope that this blog of Colin’s journey helps give hope to other families and children that might be struggling with Dystonia or the decision to have DBS surgery. Thanks so much for being a part of our lives this year and as we move into the next!

Colin had some additional programming on December 5th. We are still working on minor twitching and fine tuning but Colin is doing fantastic! They increased his voltage to 3.5 and told us to wait 2 weeks and if we did not notice a difference they gave us the ability to adjust his setting for an even longer pulse width. We have since changed to the increased pulse width setting and are in the process of increasing the voltage back up to 3.0 very slowly. Although we continue to work on the fine tuning and muscle twitching, the fact that Colin has the ability to walk and run and even play sports is more than we could have hoped for. We are confident that in time most of his additional muscle movements will be even better. Colin had a great Christmas and is excited for the New Year. Colin is set for his next programming appointment on March 3rd. Next up, Baseball sign-ups!

This is a photo of Colin running on the football field with his brother. He was invited by the team to run through the tunnel in support of all that he has been through this past couple of years. Colin was so excited to be on the field with the varsity team during their home opener and so were we. This was such a special moment for him since he has such a huge love of the game and being on the field feels like home to him. Seeing him run with the big boys brought us such great joy knowing that he can do this now…he can walk and he can run!

Colin was in San Francisco on September 5th for some additional programming. They increased the pulse width on his simulator which allows for a longer duration of electrical impulse to his brain. They also lowered his voltage back down to 2.5 so that we could see if this would help at a lower voltage. They also allowed for the remote that we have to increase him all the way up to 3.5 if needed. This gives us quite a range to increase the volts prior to his next visit which is set for December 5th. The programming seems to be working well and we plan to increase slowly only as needed. Again there are still some minor muscle movements, but they seem even less now. We will continue to post on his progress and programming as we continue this journey.

Soccer season is in full swing and we are so excited to see Colin run better than he has in over a year! He is completely off all medication and his voltage is set at 3.0. He has been receiving stimulation from the DBS system for almost 4 months. He has an apt. to see Dr. Starr on September 5th and we hope that some fine tuning with his programming from this visit will help his muscle twitches that are still occurring. These twitches are very minute and only we are able to notice them. We are still working on his writing ability, but the arm twitching is definitely better. We can t put into words how happy we are and how thankful we are for the DBS surgery. School starts in about 2 weeks and Colin is ready for a great year .and so are we!!!

Hope all of you are enjoying your summer so far. The above photos are Colin enjoying the Fair. We were just so excited that he was able to walk the entire fair grounds all day with no problems at all! This was his first time out walking around for this length of time in over a year…He was so happy. Colin is also enjoying swim lessons and is trying really hard to get the swim strokes down, he is having a blast this summer. Next up will be soccer sign ups. Colin had a follow-up appointment with Dr. Starr on June 13 to adjust the stimulation settings on his DBS. We had noticed prior to the visit that he seemed to be having some reaction to the stimulation causing some mouth movements that were not there prior to turning up the settings.

We reduced the voltage to 2.6 and then Dr. Starr’s team split the voltage that was going to 2 contacts to now 4 contacts. They also reduced one side back down to 2.0 as they agreed that he was probably being a little over stimulated. They are having us up the voltage very slowly to try and help the additional areas of his arms and left leg that still have some movements going on. We have also started to reduce his medication and he is almost completely off the medication Baclofen. We will continue to update on any changes. Hoping he will be able to write better by the time second grade starts. His next appt. is set for September 5th.

We waited a little while to update the blog as we’ve been kind of holding our breath, but we can’t deny it any longer. He is walking, running and playing ball! Colin has been receiving stimulation from the DBS for 4 weeks now and is doing great. We have been upping his voltage and now he is at 2.7 volts. The UCSF team wants us to get him to 3 volts prior to our follow-up visit on June 13th. We are so thrilled with the results and Colin is too, but there is still some uncontrolled movements in his arm (he is still unable to write), feet, hip, and his walk is still slow.

We are hoping to get better control of this with some fine tuning during his programming in June. You probably wouldn’t be able to tell Colin had dystonia if you did not know him and we couldn’t be happier! Dr. Starr is a Star and we are so grateful for his phenomenal ability to perform this surgery. Thank you all for following Colin’s progress as we continue to update the blog as we go! We couldn’t have made it this far without Dr. Starr, his team, and all of your positive thoughts and prayers. We can’t thank you enough!

Today was the final day at the Dr’s office. He got his third head turbin replaced and bandages removed from his chest, and first programming done.

Left: Colin with implanted boxes in his chest.

Center: The boxes that were implanted in each side of his chest. The inner wire as shown is the lead that was implanted into the brain. The outer larger lead is the one that goes from the connector at the top of his head down to each box in his chest.

Right: Shows the scale of the box. The boxes aren’t huge, but because Colin’s chest is so skinny it makes them look huge.

PROGRAMMING: This was the final leg of today’s visit and probably the most important. It actually went very well! We learned today that Colin has a very high threshold for the voltage into his head. This is a very good thing because it means he has a lot of distance before side effect, plenty more in fact then he will need in order to get to full benefit. He was able to tolerate over 6V, while 2-4 volt is all that is ever required. Many do not get to full benefit because they are limited by their own body’s natural ability to tolerate the voltage. If they cannot tolerate the peak voltage required to curb the symptoms, a balance must be set thereby compromising the benefit.

Colin is now set for 1V in each lead. Starting Friday night, we will begin to increment the voltage up?by 100mv (or .1V) every night until either satisfactory benefit is reached or the 3V limit, whichever is first. Our first appt is set for 1 month out where we will come back to SF and get final signoff, acheive a finer dial-in to programming, and if needed get a higher voltage threshold setting above the 3V limit that is currently set.

We will continue to post on Colin’s progress as we move into a new chapter of his life where he can once again be?all that he yearns to be at 7 and beyond….. Thank-you all for your love, support, and prayers that you have sent our way as you can never know how much it has meant to him and to us. 🙂

In Colin’s words (edited by mommy and daddy).

Whew it has been a long month, we’re almost done with all of this and I am so relieved!. Really looking forward to getting back to my home, my dogs, cat and especially my brother, sister and all my friends, family and classmates! I want to thank everyone for all their posts on my blog and for the cool things I received in the mail like care packages, letters from all my classmates (a couple of times), gifts, and this super cool poster! You all have been there for me throughout and continued to stay with me and it really means a lot and helped me through all of this more than you can know.

See you all on Wednesday!

Colin B

Colin’s final surgery to implant the battery packs was a success. His surgery lasted approximately 2 hours. This surgery was a little more painful then the last as they had to tunnel in the wires from his brain stimulators, to behind his ears, neck, chest, and finally down to the battery packs which has caused collective pain in all three areas. He has 5 incisions as a result the large across the top of his head, two incisions behind the ears (one behind each ear), and two across the upper part of his chest (one for each box). As you can see in the photos he has a new head wrap and patches where the batteries were placed, that he has to wear for a week.

We are looking forward to the programming process to begin and to see the initial relief of symptoms. They turned on the stimulators immediately after surgery but at the lowest voltage setting (0.5V) to begin brain acclimation, there is no relief of symptoms at this point. It won’t be until 4/26 when all bandages, staples and stitches are removed that he will get his first programming and hopefully see some improvement, but not the likely case as it usually it takes 1 – 2 months to see noticeable improvement with Dystonia. More updates to follow!

This is a photo of Colin pre surgery to implant the battery packs in his chest. We arrived at the hospital at 5:30 a.m. and surgery began around 8:00 a.m. He was so happy to get the bandage wrap off of his head as you can see by his huge smile in this photo. He will be having 2 battery packs placed just below the collar bone on each side of his chest. Dr. Starr also told us that he would be turning the system on so that he can begin the stimulation process. The surgery will take about 2 hours.

Colin had his head wrap and staples removed on Friday April 6th. After this shot he got new bandages and head wrap that he will continue to wear through April 19th, the date of is his second surgery to implant the boxes. He was so relieved and finally smiled once all was removed.

A closeup of the 22 staples that had to be removed plus a few on the side that can’t be seen in the picture. The removal of the bandages and tape from the hair prior to this shot actually proved to be more painful than the removal of the staples. Now we are just looking forward to a successful 2nd surgery and programming.

We hope everyone is enjoying their Easter Sunday!

Colin post surgery just after opening his eyes. Everything with the surgery was a perfect success with no complications. He woke up at around 1pm with head pain from the stitches and a really scratchy throat. He will get icechips at 4pm to help with his throat. Right now he is talking and visiting with grandma and grandpa, but still pretty groggy. He will be in ICU for at least two days depending on his condition over the course of that time frame. Thanks again for all your thoughts and prayers!

We wanted to give you an update on Colin. We took this photo right before he went into surgery. He seemed in good spirits and just wanted to play his DS football game as long as possible. The surgery started at 8:42 am and we received an update at 10:30 that all is well. They told us the surgery will be between 4 to 6 hours, so we patiently wait. We wanted to thank all of you for your positive thoughts and prayers they are much appreciated right now. We also wanted to thank those of you that have posted a comment for Colin. He has read them all and it really means a lot to him and us.

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.