This is an interview with my on WJOX, concerning concussion prevention.
September 7th, 2013
September 3rd, 2013
If I were to tell you that a major college football team went through 2.5 weeks of pre-season football camp, including two-a-day practices and full contact scrimmaging, with zero concussions; would you believe me? With the large number of colleges I guess it is feasible to occur. However, what if this occurred at a football camp where there was a culture to fight concussion with methods to diagnose, manage, treat and PREVENT concussion? Would you suspect that there might be a reason for zero concussions? That is the case with the University of Cincinnati; Zero concussions in 18 days of pre-season camp in conjunction with a thorough program to mitigate and manage concussions.
What is different about UC’s camp is substantial. The 105 plus players were all given training to improve eye-hand coordination, functional peripheral vision, balance, coordination and multitasking. Achieving such training and medical monitoring is no small task and accomplished with the help of an army of engineers, athletic trainers, strength coaches, coaches, physicians and scientists. All of these people dedicated to helping the UC athletes.
Concussions often come from being ‘blindsided’ on the filed so athletes were trained to improve their functional peripheral vision. The Dynavision D2 ™ device was used in part to train functional peripheral vision where athletes had to see lights in their peripheral vision and hit buttons. Quarterbacks were trained to take quick looks at flash cards in their peripheral vision while doing the Dynavision D2 ™.
The players were also trained to respond quickly to improve reaction time. This may make them faster to get out of a situation that might result in injury. Training to improve balance and coordination was performed and simultaneously collecting data to monitor changes in performance when the players were multitasking. The UC medical team developed a novel balance assessment paradigm that monitors and challenges the athletes performance. Balance is important to a football player because once they lose their balance they are prone to injury or poorer performance. The entire football team had balance assessments.
Eye and brain health was assessed as part of baseline management for the entire team. Vision problems occur in a large percentage of concussions and the University of Cincinnati is, we believe, the first University in the country to baseline all of our football players using the state of the art, Optovue – iVue ™ system. This system produces images of the eye, retina and optic nerve head; any of which may be involved in concussion symptoms as well as critical for eye health.
The cutting edge medical care and management for the University of Cincinnati athletes goes past concussion. A group of athletes were enrolled in a research study to determine if prophylactic intravenous fluid therapy prevented dehydration and cramping during the hot practices. The group of athletes who had IV fluids before practice reported feeling better and coaches reported better performance.
The University of Cincinnati continues to lead the way in developing and discovering more and better ways to help our athletes as well as aiding the health of the community and nation. We believe that if other college football programs adopt some of our concussion mitigation training the nation will see fewer athletes sidelined with concussions.
Please note this blog represents the opinion of the author alone and not those of the University of Cincinnati.
August 28th, 2012
This is abstracted from an article in ESPN: http://m.espn.go.com/general/story?storyId=8297794/
It is annotated and presented here without permission but complete attribution to ESPN. The whole article can be found above and is over 3500 words long. So, I’ve shortened it and made comments. In quotes is from ESPN author; Peter Keating, the rest is from me.
“Concussions have become big business in the football world. With 1,700 players in the NFL, 66,000 in the college game, 1.1 million in high school and 250,000 more in Pop Warner, athletes and families across the country are eager to find ways to cut the risks of brain injury, whose terrifying consequences regularly tear across the sports pages. And a wave of companies offering diagnostic tools…
ImPACT, the maker of the world’s most popular concussion evaluation system, offers a 20-minute computerized test that players can take via software or online to measure verbal and visual memory, processing speed, reaction time and impulse control. The idea behind ImPACT (Immediate Post-Concussion Assessment and Cognitive Testing) and similar batteries is that doctors or athletic trainers can give a baseline test to a healthy athlete, conduct follow-up tests after an injury and then compare the results to help figure out when it’s OK to return the athlete to play. Selling itself as “Valid. Reliable. Safe,” ImPACT dominates the testing market and has spread throughout the sports world.
On a broader scale, ImPACT, headquartered in Pittsburgh, sells tests and training to more than 7,000 pro teams, colleges, high schools and sports medicine centers from the University of Alabama to St. John’s College in Zimbabwe. In the past year, Dick’s Sporting Goods and Wells Fargo have announced initiatives to encourage widespread use of the test. In one ad touting Dick’s promise to help fund ImPACT testing of up to 1 million middle school and high school athletes, former Steeler Jerome Bettis says, “Using tools created by ImPACT … young athletes will know when to sit out.
There’s just one problem. Many scientists who are unaffiliated with ImPACT don’t think the thing works.”
Here is a critical point: when you ask an unaffiliated scientist, like myself, we say it does not work. So who says it works? I’m not saying it works. More from ESPN.
“Mark Lovell, the CEO of ImPACT Applications, Inc., the company that makes and markets the test, said in a statement to The Mag that “ImPACT has become popular because it has been extensively researched,” noting that it appears in more than 110 publications.
Yet a study — really a study of studies — published last year in Current Sports Medicine Reports reviewed the entire span of research on ImPACT and concluded: “[T]he false positive rate appears to be 30 percent to 40 percent of subjects of ImPACT.”
What that means is 30 to 40 percent of the time the ImPACT says you have a concussion when you do not. The weatherman/weatherwoman has a better success record than ImPACT. But there are a bunch of papers and tremendous marketing saying use ImPACT to assess concussion. Now what is happening a 20 minute computer program makes the decision for you. Does it make sense to use something that seems to be just a little bit better than a coin toss to determine someone’s future brain health? I don’t.
“Lester Mayers, who was once a captain in the Army Medical Corps and now describes himself as an “elderly clinician,” retired from private practice almost 14 years ago to become director of sports medicine at Pace University. … “I’ve seen more than 100 concussions since I’ve been at Pace, and there’s a mystery to them.” Mayers found, the vast majority of the studies evaluating ImPACT have been written by the very researchers who developed it. On the “Reliability & Validity” section of ImPACT’s website, for example, 21 of the 22 research papers listed are authored or co-authored by ImPACT’s inventors. And in the case of ImPACT, the people who created the test have used their various platforms to popularize it, all the while maintaining a financial interest in it.
While developing and promoting ImPACT, for example, Lovell oversaw neuropsychological testing for the NFL. That meant he was directing the NFL’s testing at the same time he was chairman of a company selling tests to the league’s teams. Lovell also sat on the league’s concussions committee and served as director of UPMC’s Sports Concussion Program, as director of the NHL’s neuropsychology program and as a consultant to the Steelers. (Today, he works full-time as CEO of ImPACT Application Inc. but remains a consultant to the NFL, NHL and several other organizations.).
“It is a major conflict of interest,” says Christopher Randolph, professor of neurology at Loyola University Medical Center near Chicago and former team neuropsychologist for the Bears.””
What Randolph, I think, is trying to say is that if you stand to make money when someone buys your product than being a paid consultant to sports organizations that you recommend to buy that product is a conflict of interest. It is like going to a furniture store and paying the sales person to tell you how great their store’s furniture is and when you buy something they get a commission. That is a conflict of interest.
“We found that ImPACT is just not fully reliable,” Mayers says. Now under new leadership, the Pace athletic department no longer uses ImPACT testing.”
Continuing with my furniture store analogy, this is like buying that chair and 1 out of 3 times you sit in the chair it collapses. But you cannot return the chair. Is that a great deal?
“Of course, there are good intentions behind those mandates and behind much of the testing going on around the nation. It’s easy to feel that doing something to fight concussions must be better than doing nothing. But American football is in the midst of replacing one giant, uncontrolled experiment (letting young men play a violent game) with another — diagnosing them en masse and on the cheap with a test that many experts deem unreliable.
The bottom line is this: Neuropsychological testing in general, and ImPACT in particular, can be part of an overall exam. Any athlete suspected of having a concussion needs to see a healthcare professional trained extensively to deal with brain injury and not just trained to administer a test.”
So my take from this is there is no simple way to assess reliably a concussed athlete. You need to take the time to do an examination and to understand what the results of the exam mean. Let’s please take some time to train Athletic Trainers and related health care professionals to evaluate the patient with a concussion and participate in their management. I strongly prefer and advocate for PEOPLE, not computer programs, to assess individuals work with those patients and decide what the risks are. The athletes need to tell the athletic trainers and coaches the truth about what is going on and then let medical professionals make decisions.
Do we need better MEDICAL devices, as opposed to ImPACT’s computer program to assess the brain of a concussed individual? Yes of course. We need more research on that subject. I’ve tried to get funding to do just that but research that will be objectively medically validated takes time and money. Writing a computer program and just selling it takes much less time, but we are now seeing why that is such a BAD way to go.
August 25th, 2012
This is taken without permission from the concussion blog. http://theconcussionblog.com/2012/06/20/part-of-recovery-is-a-visual-component/
It talks about a patient I worked with and mentions me as well, so I thought I would share it.
Jen Umberg never saw it coming. It was May 23, 2011, during a terrible storm in Cincinnati. Winds were gusting and she was trying to get inside. But before she could, she was hit in the head by her neighbor’s hose box that flew from next door. Momentarily knocked unconscious and 1.5 meteres from where she was, all she could think about was, what just happened?
“I felt the most intense pain of my life,” Umberg remembers, “I thought I had been shot by a bullet.”
Umberg was left with a concussion at the same time she was rehabbing from foot surgery a few weeks prior. Two months after her accident, Jon Divine MD, her doctor and the Head Team Physician for The University of Cincinnati Bearcats, directed her to begin rehab at UC with their athletes using the Dynavision D2. As part of her neurological evaluation, Joe Clark PhD used Dynavision to measure and train/retrain visual, cognitive and peripheral deficits.
“He developed a plan for a Novacare athletic trainer to use with me,” Umberg said, “ When my progress plateaued and obviously vision related, he began to work with me two times a week on the D2 himself (that was in late January or early February).” The focused Dynavision™ and vision training helped get her past that plateau.
“The feelings it conjures up when you hear a story like this and meet the actual person,” said Dynavision CEO Phil Jones, “Mostly we hear cases like these from the therapists that work with these patients, but to be part of the movement to help and have such stunning results is very gratifying. It’s a form of holistic healing that is working. And Jen is living proof. From despair to optimism; now that’s a leap that’s worth taking.”
Umberg was so moved by Dr. Clark and his staff at UC, that she decided to make a life change from political consultant to patient advocate, helping the sports, medical and other personnel at the University of Cincinnati to teach others about the benefit of Dynavision™ and D2.
“I am not planning to return to politics as I have become passionate about working with concussion patients as an advocate and training on the D2 which is why I became an Approved Dynavision™ Trainer,” Umberg said.
“Jen’s story is another example of the breadth of the applications of the D2 in the Neuro-care field,” Jones said, “I don’t think the brain cares whether it is injured from flying debris or a helmet to helmet hit. If you get hit the wrong way, the brain just knows that it is injured. The fact that the D2 is in over 40 VA hospitals and hundreds of Neuro Care units where it is used in traumatic brain injury (TBI) treatment for the returning veterans, shows that it is a vital and standard piece of equipment used in monitoring, treatment, return to play/work and recovery for this market. It was serving the TBI market long before medicine and sports connected to realize that concussion is a form of TBI. Now, all of a sudden it makes so much sense.”
As it is laid out on Dynavision’s website at www.Dynavisiond2.com, The unique and important features of the Dynavision™ to rehabilitation are its ability to challenge the peripheral visual system while at the same time, applying cognitive challenges combined with gross physical movement.
Thanks to the D2, there is a strong connection between improvements in scanning skills for those who have “Visual Field Deficit Post Stroke”. The Dynavision is ideal because it allows for this training on a large visual field.
Peripheral visual attention is needed to protect an individual from potential dangers in the environment, and speed in searching the peripheral visual field is critical to safety in environments involving rapid visual changes.”
Originally, in its application of Return to Play the Dynavision worked because it’s such a great tool for measurement, evaluation and self/evaluation. It was a great indicator of how we were doing in our daily activities when we used the D2. The scores were always correlated with how you were feeling at that time, be it stressed, tired, ready, fired up or whatever , that we knew it could closely monitor a person’s functional levels at any level of consciousness, be it normal, or concussed (TBI’d). And when the anecdotal cases started rolling in that was exciting. But now that we have started to see more and more people with long-term issues that are actually healing, it simply cannot be ignored!
August 10th, 2012
I was privileged enough to be asked to Ritsumeikan
University Shiga, Japan as an invited
lecturer asked to give a series of lectures during their concentrated summer
program. The theme of the lecture program was “brain pathologies and
therapies.” Yes that is a broad topic, but they wanted personal expert
presentations focusing on those areas to be given to their exercise and sports
science students as a one credit hour course to be given over 5 days with three
lectures per day. That means I’m giving three lectures a day over 5 days and
the students taking the course get one credit for their effort.
So I went through my scientific presentations and
publications and came up with a lecture series that covered what I think they
were talking about. I sent them the outline a few months in advance and got some
feedback and even some extra pointers on what could be added.
With the 15 lectures I divided it up into the following Classes
Theme: Brain Function, Dysfunction, Treatment, Prehab, Rehab
Lecture 1. Mechanisms of injury
Concussion and traumatic brain injury
Arterial venous malformations
Lectures 2 and 3. Concussion Assessment Methods
(2 classes – one class lecture one class practical demonstration)
On field exam
Pull from play
Long term sequelae
Return to play
Lectures 4 and 5. Stroke; Injury, Recovery and
complications (2 classes)
Definition of a concussion – definitions.
Hemolysis and bilirubin oxidation products
Immune system and brain injury
Innate immune system
Lecture 6. Acute Stroke Treatment Strategies
TPA and clot busting
Meds and supplements
Lectures 7 and 8. Brain energy metabolism (2
No Fatty acid oxidation
linking glycolysis and Ox Phos
Lectures 9 and 10. In born errors of metabolism
Energy metabolism and cognitive function
Creatine deficiency disorders
Argninine glycine acyl transferase deficiency; AGAT
Guanidine acid methyl transferase deficiency; GAMT
Creatine transporter deficiency; CTD
Knockout Mice and CTD
Treatment of CTD with cCr
Reversal of cognitive deficits CTD (eventually)
GAMT and AGAT (now).
Lecture 11. Prehab and sports medicine
Neurovisual as well as neurocognitive training
Position and sport specific training
Lectures 12 and 13. Neuro cognitive rehab
post-concussion. (2 classes) This will be 1 lecture and 1 practical
bench paper and batting averages
Long term memory improvement and changes.
Medications and supplements
Lecture 14. Creatine supplementation in athletes
Aerobic and burst exercise
Lecture 15. Catch up on missed lecture subjects;
conclusions and synthesis of the overall theme from the lectures; as well as a
final exam. The final exam was 12 short answer questions; written in English,
and they could answer in Japanese 8 of the 12.
The lecture series was designed to have some practical
demonstrations to help break up the lectures. No one would want to sit through
4.5 hours of lectures for 5 days in a row. Also I thought it would be
beneficial to learn some practical skills along with the traditional theory
that makes up a majority of college lectures. Also to break up the lectures I
embedded some videos to demonstrate various aspects of the subject matter I was
teaching. I supplied the slides to the students a few days before the lectures
started, but I did not require any readings prior to or during the class.
Before starting the lectures I announced to the students
that the lectures were to be informal and as I described it, “American Style”
meaning that they were allowed and encouraged to interrupt the lecture to ask
questions (usually forbidden in Japanese college classes), they could eat and
drink in the lectures. They were also allowed to leave to use the rest room or
for personal reasons as needed. Also, anyone could skip classes if they had
work or other duties. Finally anyone
else who wanted to attend any one or more of the classes could sit in on the
I made one major change in the lecture schedule above once
the series started, and that is it became very obvious that adding the
practicals was a good idea to break up the didactic lectures, so I added one to
the second day, as that was a very hard series of lectures. This was borrowed
from the practical in lecture 13. I can say if I were to do the lecture series
again I would do two lectures and a practical for each day because 3 lectures
at 1.5 hours each was just too much for the students as well as me. Obviously
this is a case of learning from the experience.
I did not know this before, but the University had not done
something like this before, I was the first professor to do this. They wanted a
native English speaker to lecture to the students in English so that they got
exposure to the language and learned specialized subject matter from an expert
in the field. I think that the indications are that the lecture series was a
success as the students and administration were making plans to find another
subject expert to be invited next summer. I offered to help counsel the next
invited lecturer if needed, but I think the people in the university were very
helpful and flexible in the program I was involved in and predict few problems
July 25th, 2012
Reprinted with permission
from Suzanne Leach
Guanidino Acid Methyl Transferase (GAMT) support group on facebook conversation thread on ornithine and creatine results.
July 19th, 2012
The following is an annotated and redacted conversation from the GAMT support group on facebook. https://www.facebook.com/#!/groups/189179557787307/. Some of us participated in the dialogue and wanted to share this with the broader community. I’ve tried to stay true to the meaning and provide transitions between comments from individuals participating in the discussion.
Please remember to always consult your physician concerning diet, treatments and dosing therein.
The following was posted in the GAMT group by http://mommyklor.blogspot.com/.
And the Results are in…
Gave John his last supplements around 6:00 pm.
Went to Duke and had 1st Blood Draw at 9:00 am (15 hrs later) – no supplements that morning, no food.
Feed John a 4 oz yogurt with 3 grams protein along with his milk & all medicines approximately. 9:45 am
… Repeated Blood Draw 4 hours later
1st Blood Draw….
2nd Blood Draw…
A few comments. I was surprised at how much the GAA level moved. I was not expecting this. I had thought up until now that the GAA level moved more gradually over time.
Another surprise… I would have thought the Arginine level would have increased more than it did. I gave him a 3 gram protein yogurt and it didn’t make that much of a difference in the arginine level. I had wanted to feed him one of the highest foods with protein in it to see what would happen. My guess is that it didn’t increase much because of the ornithine counterbalancing it, but makes me wonder, what if it would have been a bigger thing of yogurt with 5 grams of protein? Would the GAA level and arginine level have been the same? I gave John a 3 gram yogurt, yet his GAA still went down and the arginine only went up slightly. Makes me wonder, can John be eating more protein than I’m giving him?
Also, makes me realize that I should try to give him his nighttime dose of medicine as close to bedtime as possible to keep everything from dropping off overnight and therefore preventing the GAA level from going up.
Let me know your thoughts. Dr. Clark – What do you think about these results?
This is the response from Dr. Clark www.josephfclark.com/blog
Missy, thanks for this. I’m going to need to assume the GAA concentration is in micromolar and normal should be about 1.2. Is this what your lab is saying? GAA is found in very few foods and none of the foods I saw listed. So the body (Kidney and Liver mostly) is making GAA and ornithine via AGAT most all of the time and a lot of that is done at night. When you gave John the creatine and ornithine at 9:45 AM, the signal to make GAA was inhibited by the ornithine and creatine. Yes, that is kind of a quick fall, but also the body prioritizes what it spends time doing. When we eat the body gets flooded with stuff to do as far as managing toxins in the food, hanging on to good things in the food etc. Hence, a large percentage change in GAA for a short period of time could occur. I’m not sure of the sensitivity in the kidney for excreting GAA. One paper I found said it was about 5 micromolar. Which means that once the kidney stopped making it the kidneys were excreting it. So I think the GAA fell so much because of the excretion into the urine and the decreased synthesis. Were urine levels done?
Arginine and glycine are amino acids used in many other processes and in many foods. I have to admit I am not convinced that very strict protein restriction is necessary in GAMT patients especially in growing children. I know it is hard for parents to know what to do because the experts do not agree. We don’t agree because we really do not know. So I for one very much agree with you suggestion that John could be eating more protein. What the right level is or the best proteins, we still do not know. Ornithine would not be a reason for the arginine not increasing as much. Ornithine decreases the amount of arginine consumed by AGAT.
I very much agree that giving night time meds/supplements as close to bedtime for the reasons you suggested. The body’s chemistry goes into overdrive at night, so this strategy might very well help control things.
My general impression of the results is they have a lot of good news. I think it is great that the GAA does change and that John’s body is responding in a positive and controlled way. Positive that GAA goes down, controlled that arginine and glycine do not change much. I also think that it indicates that at this time John’s body is ready to handle the proteins and amino acids in his diet. I say “at this time,” because as we get older and as John stops growing the ability to handle the arginine and glycine may change.
What none of us really knows is what the right level of GAA is; referencing the 5.2. Labs report different numbers as normal and use different units. We think we know what average is in people with normal GAMT and AGAT activity. But we do not know what GAA should be in GAMT patients. We know that GAA can inhibit creatine kinase in the brain and eventually lead to seizures and other bad things in the brain. So it is something we must pay attention to, but with relatively little hard data to go on.
This makes me feel like spreading creatine and ornithine into more than three doses would be helpful. Maybe first thing in the morning, lunch, afternoon, and evening? At one point my nutritionist said that food and supplements should be in proportion, meaning give her half of her day’s supplements if there’s a meal where she eats half of her day’s allotment of protein. Dr. Clark- are you feeling like that is completely inaccurate and that the body is making GAA anytime, food intake or not, based on John’s results? I had heard “the supplements work with her food” as if a dose late in the evening on a near empty stomach would be a waste? What do you think?
My response to comment 1.
I think there are a couple of things to consider. 1) most of these supplements do work on an empty stomach. BUT and importantly 2) they are somewhat like salts. So if taken on an empty stomach they can, in some people, cause an upset stomach. I’ve done this to myself with creatine (with and without food) and taken with food feels better. With regard to in proportion for creatine and ornithine; that is not necessary. The most important thing is to make sure your child gets what she is prescribed each day. I do believe that the body is making GAA nearly all the time (outside of starvation or disease). It will increase and decrease though based on modulators such as ornithine and creatine. I do not think a dose on an empty stomach would be a waste metabolically. But do make sure she does not get an upset stomach.
To explain my concern regarding the upset stomach. Creatine in the stomach acts a lot like a salt. If you eat a bunch of salt it can cause water to enter the stomach and make a person feel nauseas and even vomit. We want to avoid that with your daughter and the other GAMT kids because it would make giving them the creatine and treatments harder.
Regarding your nutritionists, he/she is correct with regard to pure “dietary supplements” as a dietary supplement is often something that helps the body absorb or metabolize something else. But for your child and children with GAMT creatine and ornithine are much more than dietary supplements and more like drugs that the body needs to have a fairly constant supply of as part of the treatment. Creatine is supplying the body with creatine for energy metabolism AND inhibiting AGAT. Ornithine is inhibiting AGAT so less GAA is made.
Finally, when we get back to the protein restriction. That is theoretically done to decrease Arginine and glycine, which are the molecules used by AGAT to make GAA and ornithine. My personal opinion is that it would be very hard to restrict arginine and glycine to low enough levels where AGAT would be unable to use them to work. Remember the body needs them for other things. When I did the rough math calculation, excuse the science and math here, I estimated that the arginine would need to be 2 (John’s was 40 after fasting) and glycine 3 (John’s was 201 after fasting). Again, no hard scientific evidence but I am still not convinced that protein restriction is absolutely necessary because it is impracticable to get low enough to be effective. However, don’t change what your physician recommends without consulting him/her.
Child C. has been under treatment for 5 yrs this summer and we have tried a lot of different things with her. She has been on a very strict protein restriction which we had to increase due to her dislike of low protein foods. She has had stomach irritation from Creatine which caused nausea vomiting and diarrhea. So now we feed her within 30 mins of taking meds. She does not have difficulties as long as she is fed. I do believe creatine is harsh on their little stomachs so it is important to feed them when giving it. At least in Child C’s case. I have always given Child C. her meds when she wakes up then 6-7 hrs later then just before bed. Now sometimes it is 9 hrs after second dose of day before she goes to bed. I find this system works for us. She has been seizure free since diagnosis. Child C. is now on 22-26 gm of protein a day. Now sometimes she gets more. Creatine and L-ornithine 10gm TID. Then the cyclinex-2 and prophree. Without the prophree she does not gain wt at all and that has been the main problem we have with her at her check ups is maintaining proper wt. Her labs are always good. I believe what we do works. We are content for now anyway. H___, I wouldn’t make any changes if what y’all are doing is working.
This was not the last comment in the thread on facebook, but it is where I will end. I think it is important because it emphasizes the need to do what works but to work with your physician and keep trying if things are not working. The research community is at the stage now where we are beginning to better understand what is needed and designing ways to do the research to make better decisions on managing GAMT patients.
Make sure you communicate with your physician what you are doing and consult with them before making changes. If your physician has questions or concerns, I’m happy to talk to them and happy to refer them to people to help get answers.
Discovery of a treatment for one of the causes of Autism Spectrum Disorder: Creatine transporter deficiency
July 2nd, 2012
This is not a joke and is actually quite serious but a good thing for a lot of us. In the highly prestigious Journal of Clinical Investigation (http://www.jci.org/articles/view/59373) we have published a paper showing our discovery of a true treatment for ONE of the causes of autism. The type of autism spectrum disorder is the creatine transporter deficiency, where the brain lacks creatine because it cannot be transported into the brain. To prove the treatment we made mice who had the disease, proved they had the disease and then treated them with a drug called cyclocreatine. Cyclocreatine gets into the brains of the mice with the disease and acts just like creatine. We were able to fool the brain into thinking that cyclocreatine was creatine thereby treating the mice.
This is a major breakthrough for treating these patients as well as the field of autism research. That is if we can find the cause of the disease we can design strategies to treat those individuals. One of the amazing things seen in the mice is that there was a reversal of symptoms. While this does not mean an autism patient will suddenly become normal, it does provide hope for the thousands of individuals with intellectual disabilities including the estimated 50,000 individuals with this type of Autism spectrum disorder. Please do remember that Autism is a spectrum of disorders and not all Autism patients will benefit from treatment with cyclocreatine.
Now for the reality check. It took 12 years to get here, since the cause of this type of autism was discovered, an pretty much used up all the research funding I had has gone to get to this point. This is not fast and it is not cheap. It is all well and good to say someone should do research on a subject, because a lot of us do say that. However, without funding, I needed to use my own personal finances and academic resources to do research because for the past several years the NIH and other funding agencies have said they will not fund this work even with Autism occurring in 1 out of every 88 births. I can’t do research on good will and my finances are running dry.
The continuing reality check is short and sweet. If you want to ask when will the drug be ready for patients the answer is pretty easy. It will be ready about 3 years after we get the 26 million dollars needed to do the research. Yes it comes down to money.
While I’m grateful for, and proud of, what amounts to my life’s work, I’m not sure what is next. Notwithstanding, improving and normalizing the lives of the CTD patients is what I am thinking about every day and I’ll continue to the best of my ability.
Please note, if you are a parent of a creatine transporter deficiency child please be aware that cyclocreatine is NOT an FDA approved drug. It is not possible to get high quality cyclocreatine and we don’t yet know what dose to give to humans. So it is not recommended to try treating anyone with it; not right now anyway. Further, cyclocreatine is on sale on the web. But it is chemical grade and not pure like would be found in a drug. Plus I saw cyclocreatine being sold out of China, but it contained no cyclocreatine, but rather a toxic analogue. You might never know what you were getting, so I’m sorry to say it is dangerous to try to start treating people now. That is why we need more money and more time to do the right research before giving it to patients.
With great knowledge comes great responsibility. We now have the knowledge but must act responsibly to safely get cyclocreatine to the point where we can treat patients with CTD.
If you wish to or are able to offer financial and / or material support to the research on treating the creatine transporter deficiency please contact me directly as the University of Cincinnati will be able to take donations directed to this project. My contact details are: firstname.lastname@example.org.
Feel free to join the creatine deficiency support group on facebook if you want to talk about this discovery or other issues regarding creatine deficiency disorders. The group has patient family members, physicians, scientists and care givers as well as people interested in Autism Spectrum Disorders. https://www.facebook.com/groups/127389967322193/
August 4th, 2011
To all my animal loving friends, this is sad and may make you cry, but I thought I would share anyway.
We had a little black cat named Nemo whom we rescued from a sunken window well. He had an umbilical hernia and could not jump out of the window well. His mother may have left him there or he fell in, but he was not going to survive. We rescued him and brought him to the vet. He was too young (6 weeks) and weak to have the hernia fixed, so we took him home and nursed him for a while. An older male cat named T-bone fell in love with Nemo almost immediately. T-bone would clean Nemo and sleep with him as well as share food. T-bone was not jealous or mean with Nemo at all and as Nemo got stronger they would play and sleep together. They became best buds.
We loved telling people about “finding Nemo” in the window well and T-bone finding Nemo as a new best friend.
At about 3 months of age we took Nemo to the vet to be spayed and have the hernia fixed. We called the procedure a “nip and tuck.” The surgery went well, but Nemo did not do well with the anesthesia and he came home very lethargic. Again T-bone became a nursemaid to Nemo; grooming and almost guarding Nemo. Eventually Nemo got better and because we feel T-bone insisted, we adopted Nemo. https://www.facebook.com/media/set/?set=a.1035843128646.2006528.1002500072&saved#!/photo.php?fbid=1056939416040&set=a.1035843128646.2006528.1002500072&type=1&theater
T-bone and Nemo were a wonderful pair of cats. Nemo grew to be much bigger than T-bone, but T-bone was still the big brother – and a wonderful big brother to Nemo. They would run and play all the time. T-bone being very gentle and Nemo being the rambunctious little boy. Sometimes while roughhousing the bigger Nemo might cause T-bone to cry but T-bone never made Nemo cry. They were so sweet.
About 2 years ago, T-bone got sick and was put on chemo therapy. This made T-bone very listless and his little buddy Nemo seemed to know and it was now his turn to be the nursemaid. Nemo was grooming and guarding T-bone. Nemo also seemed to know to not play or roughhouse. They could read each other so well. As T-bone got better Nemo reverted back to the little brother and that was great therapy for T-bone as well. After recovering, all was good for Nemo and T-bone.
About 4 months ago, Nemo had an unexplained fever and weight loss. T-bone was back to the role of nursemaid for Nemo. We took Nemo to multiple vets. He was very sick with an unknown autoimmune disorder causing fever, weight loss and severe anemia. It seemed his body was attacking his own blood cells. The vets put him on numerous antibiotics, chemotherapy agents, and immune agents (cyclosporine). Nemo continued to lose weight. He had transfusions, IVs, and lots of trips to the vet. Through all this T-bone was wonderful. With the overnight stay at the vet, we thought it might even help to have T-bone stay with Nemo, but the vet would not allow that.
We gave Nemo IVs at home and various injections and medications. When Nemo had the strength to eat T-bone, a chow hound, would never try to steal Nemo’s food. When Nemo would not eat, we had to coax food in him.
Every visit to the vet brought bad news with worse anemia (10%) and weight loss (losing half his body weight). After returning from every vet appointment T-bone would greet and groom Nemo. The vets often commented how good Nemo’s appearance and coat was for such a sick kitty. We told them about T-bone being Nemo’s nurse and groomsman and they would just smile and nod.
After nearly 4 months of bad news we got our first bit of good news. Nemo had gained one ounce. It was not much but is was the first time he had shown any improvement. It was a great moment. That was on a Monday morning. We told all our friends the happy news of a one ounce weight gain. After coming home that Monday evening we found Nemo hiding under the couch unable to move his right side. Nemo had had a stroke. We called the vet and did what we could do for him. But Nemo was not going to recover. We made the decision to take Nemo to the vet and have him put to sleep. We literally told T-bone how sick Nemo was and that he was not coming back from this vet trip. I firmly believe T-bone understood.
In a very gentle and touching display of affection, T-bone started grooming and cuddling with Nemo. It was like he was saying goodbye to his little brother and best friend. https://www.facebook.com/media/set/?set=a.1035843128646.2006528.1002500072&saved#!/photo.php?fbid=2170723019934&set=a.1035843128646.2006528.1002500072&type=1&theater
A short time later Nemo left this world with his human mom and dad holding him. His eyes were bright and his fur shiny from the attention T-bone gave him. He is missed very much by all and especially T-bone.
July 16th, 2011
As I hope many of you know I am dedicated to the study, diagnosis and treatment of the creatine transporter deficiency disorders called: GAMT, AGAT and CTD. I have blogged on these subjects several times before and have an announcement. Here in Cincinnati we (University of Cincinnati and Cincinnati Children’s Hospital Medical Center*) are launching the first of its kind diagnostic for all three diseases. Previously patients often had to have multiple doctor’s visits and can take many months to get a diagnosis. Now, gone are the hassles of sending samples to three different labs, that were collected in different ways at different times. One visit, one collection method and one lab can do the genetic diagnosis. The launch of this new service is August 1 2011. More info about this service can be found here: www.cincinnatichildrens.org/molecular-genetics.
This one stop shop concept for the diagnosis of the creatine deficiency syndromes will save time and angst for the doctor, patient and caregiver and is especially important as these diseases, when treatable, require early treatment to achieve optimal benefits. There are many anecdotal stories of families who have identified a deficit with their child at an early age but take years for a diagnosis. The late diagnosis often leads delay in treatment and can result in prolonged deficits in the patients. Time is brain for many of these patients and our new system will save time.
We are happy about the launch of our new diagnostic technology. Please spread the word to patients, doctors and advocates so that we can diagnose these patients early and effectively. Check out our facebook group https://www.facebook.com/#!/groups/127389967322193?ap=1 for future updates and more discussions on the creatine deficiency syndromes. Watch this space as well to see what we will be rolling out as we continue to work to help caregivers and patients with creatine deficiency syndromes.
*Please note, I am not a representative of the University of Cincinnati and/or Cincinnati Children’s Hospital Medical Center, but want to make everyone aware of what these outstanding institutions are doing.