Dejana and the World

Researchers can measure brain's neural connections

2011-06-09T03:47:00.000-07:00

June 1, 2011
Source: Brown University

Computer scientists at Brown University have created software to examine neural circuitry in the human brain. The 2-D neural maps combine visual clarity with a Web-based digital map interface, and users can view 2-D maps together with 3-D images. The program aims to better understand myelinated axons, which have been linked to pathologies such as autism. Results are published in IEEE Transactions on Visualization and Computer Graphics.

The bundles of individual nerves that transmit information from one part of the brain to the other, like fiber-optic cables, are so intricate and so interwoven that they can be difficult to trace through standard imaging techniques. To help, computer science researchers at Brown University have produced 2-D maps of the neural circuitry in the human brain.

“In short, we have developed a new way to make 2-D diagrams that illustrate 3-D connectivity in human brains,” said David Laidlaw, professor of computer science at Brown and corresponding author on the paper published in IEEE Transactions on Visualization and Computer Graphics. “You can see everything here that you can’t really see with the bigger (3-D) images.”

The 2-D neural maps are simplified representations of neural pathways in the brain. These representations are created using a medical imaging protocol that measures the water diffusion within and around nerves of the brain. The sheathing is composed of myelin, a fatty membrane that wraps around axons, the threadlike extensions of neurons that make up nerve fibers.

Medical investigators can use the 2-D neural maps to pinpoint spots where the myelin may be compromised, which could affect the vitality of the neural circuits. That can help identify pathologies, such as autism, that brain scientists increasingly believe manifest themselves in myelinated axons.
Researchers can use the 2-D neural maps to help identify whether the structure or the size of neural bundles differs among individuals and how any differences may relate to performance, skills or other traits. “It’s an anatomical measure,” Laidlaw said. “It’s a tool that we hope will help the field.”

“What you see is what you operate,” said Jianu, the paper’s lead author. “There’s no change in perspective with what you’re working with on the screen.”

Users can export the 2-D brain representations as images and display them in Web browsers using Google Maps. “The advantage of using this mode of distribution is that users don't have to download a large dataset, put it in the right format, and then use a complicated software to try and look at it, but can simply load a webpage,” Jianu explained.

The program is designed to share research. Scientists can use the Web to review brain research in other labs that may be useful to their own work.

Before you start a therapy

2011-03-02T00:23:00.000-08:00

When we started our home based therapy program we did not know how it would exactly look like in all details. I also didn't know which challenging obstacles the Rett syndrome would bring us that we had to solve. There was nobody that ever did something like this before and that could help us with advice. We started with a Brain Traingroup led by Keith Pennock and later on with BIBIC. This is a classical NDT therapy program that I still consider as the best one for the Classical Rett syndrome. Before I explain why that is, I like first to summarize preparation steps that are necessary to be done before you start any intensive therapy program.

1. Such a home training program is impossible to do on your own. Therefore you need a big team of people around you. For example: we have two persons for each day (for 5 days a week). They work 3 hours each; on one to one basic. It should be enough but because I like so much to work with Dejana I added 3 hours extra to her daily program. This because 6 intensive hours of daily activity is the optimal need for fighting with all Rett syndrome challenges.

2. People integrated in your team can be students, sport amateurs, relatives, friends or neighbors. Of course you can pay them for their effort in your program, but you don't need to spend as much money as for the high educated professionals. And believe me this people are more motivated and enthusiastic than any professional I have ever met. They perform excellent. And professionals may be asked only for the consult and evaluation from time to time.

3. People that you will choose have to be highly motivated and able to stay in program at least one year. They should be: dedicated, responsible (to come on time), open-minded, flexible and able to take feedback on their performance. And the most important, they have to be aware of the FACT that the condition of Rett syndrome can only improve if you chose correct exercise. Déze zin snap ik niet helemáál.
· Only persons that pass that “psychological” test can become a respectable members of your team.
· Never take family members and friends that will do it for sentimental reasons and never be sentimental in decision to keep somebody that can not do the program in the correct way because it will work against all of you on the end.

4. Of course: the best solution for all of us should be a good special school where the girl can get daily amount of physical activity and movements or correct positioning. But as far as I know there is not ANY school like that in the country where I live. So we had to do it on our own at home. Special education is not yet ready to give that what is necessary for the girls with Rett syndrome. They are not qualified nor paid for this complex task and therefore all the work lies on parents.

5. If you can offer her a home therapy: intensive and individual, you have to choose one existing program and to learn it on your one. You will be the coach of your team. Therefore it is essential to stay in touch with the authors of that program and to discus all questions with them. We are very satisfied with the Neuro-developmental approach. I can recommend 4 of them:
IAPH http://www.iahp.org/Brain-In.203.0.html
BIBIC http://www.bibic.org.uk/
Growing Mind http://www.autism-programs.com/

6. If you don't want to choose one international program, you can ask two/tree local professionals (speech-therapist, physiotherapist and occupational-therapist) to design a program for your daughter and to work on the program with your team. Consultations with professionals can be done once a month. It is cheaper and more effective that way.

7. Therapy for the girls with Rett has to be intensive and daily done otherwise it will not help. Rett syndrome is a very-very serious neurological dysfunction and working on it can be compared with training for the Olympic Games. People that train for a professional sport can NOT make it by 30 minutes a week. They have to train daily. The same: for the girls with Rett syndrome therapy of 30 minutes a week will mean NOTHING for her condition. Rett syndrome cannot be treated with a 30 min of physiotherapy, 30 min of swimming and 30 min of horseback riding each 7 days. That means 6 hours a month!!!!! It is completely useless and the choice is simple: full work or nothing.

8. If you choose for “nothing” your daughter does not have to be lost. She may not do the exercise BUT instead you can make sure she is in a good positioned at least 20 hours a day. It is the only way to safe her from skeletal deformities, bone operations and pain of the general spasticity. Positioning is not difficult to arrange and achieve in this technological time. All you need are good and flexible splints/braces that should be combined in the most effective way for her body. And you also need responsible people that will keep their eyes on her from time to time and correct her position if necessary. That is minimal intervention that each girl with Classical Rett syndrome should get.

9. It is important to have one separate room for her training program. The room has to be large enough for necessary equipment. Equipment that you will possible use is: big gym-ball, swing (to sit, lay or stand), gym-rings hanging on the sailing, walking systems special designed for her problems, stairs or blocks for challenging walking, balance beam, table and 2 long ‘seats’ behind each other.... etc. The most important is the floor: that has to be warm, large and easy to clean (not a carpet) because the most important exercise will be done on the ground in the laying or sitting position. The room has to be friendly decorated so that working in it will be pleasant for the therapists.
- In the same time it has to be as empty as possible with a large closet where you can storage equipment that you do not use at a time.

10. And the last and the most important: You have to believe in yourself, in the power of therapy and in the possibility of your daughter. You have also to realize that it will take time before you can see any result. We have to be extreme patient and persistent. It is not an easy effort. This program will not only encourage your child to change. It will change you and your life as well.

Whatever you decide I wish you a success.

Useful tips

2011-03-01T02:42:00.000-08:00

On the European Conference on Rett Syndrome, held in October 2010 in EDINBURGH Dr. Sarojini Budden (Portland, Oregon) had some tips for parents and caregivers. She has worked with many Rett girls over many years. Her presentation provided the following tips:
- There has been increased identification of reflux, gallstones, and fractures as the reason for pain and discomfort in girls.
- If there is obvious pain around meal time, it may indicate reflux or gallstones. 11% of all girls had gallstones (between 8 and 22 years of age). Girls should have ultrasound scan for gallstones, but, even if this shows negative, parents should pursue a HIDA scan, which can evaluate whether the gallbladder is diseased. Alan Percy, Prof. of Paediatric Neurology at Alabama, USA, confirmed that this is essential, and has been required in a number of cases.
- Standing should be extended to at least 30 minutes to 1 hour daily – beneficial in the fight against scoliosis (together with calcium and vitamin D in the diet), excessive wind, constipation (together with fibre / vegetable diet)
- Sitting - methods of sitting should be explored that could be beneficial to the spine
- Physiotherapy is vital. Daily stretches should maintain the range of movements of the muscles and joints. Local physio should suggest types of stretches and for how long.
- There is incidence of leg length discrepancy, which should be checked, in case correction is required for standing or walking
- Girls have shown potential for improving skills, e.g. hand function
- Siblings reactions are very important
- PLEASE keep talking to the girls

Intensive therapy and the brain

2011-01-08T08:06:00.000-08:00

Quote from the book about neuroplasticity
"The Brain That Changes Itself" by Norman Doidge
(New York: Viking Press, 2007)

".... For decades, educators ideas have been firmly set that children who struggle with cognitive functioning weaknesses will continue to struggle throughout their lives. The children’s caregivers must give them all the support they need to ensure they make it through school. Learned helplessness is the term used in the fields of education and psychology to describe many children with learning difficulties.
In fact, this learned helplessness does not have to be the case.
Many educators are not even aware of brain plasticity.
In education, the establishment’s common understanding is that the brain is more or less fixed; that is what many of them learned at college or university. Perhaps they have not read the latest information on brain plasticity and neuroscience. As a result, they keep practicing the same instructional remediation methods for children with learning disabilities as though they are the only options available. .... "

".... As well, they do not see that children who fail in school are often dealing with more significant issues with reasoning, memory, auditory processing, visual-perceptual processing, visual-motor integration, and social-perception problems—all cognitive functioning weaknesses—and that these cognitive functions can be improved. Yet Barbara Arrowsmith Young has persisted and her results outstandingly speak for themselves. She is the first neuroplastician with operating schools and licensed programs in the field of education in North America.
This is not to deny that many wonderful minds in education and psychology have provided major insights into learning disabilities and attention disorders. Nevertheless, the notions that the brain can change itself and that cognitive intervention methods can be designed to improve cognitive functioning are revolutionary to many education experts, who refuse to depart from their own entrenched neural pathways. When a dramatic change of thought is presented they become uneasy and often dismissive, preferring to stick to old ways of doing things.... "

".... There is no magic or quick fix for improving cognitive functioning. It is difficult and tiring work for the child with learning and attention disabilities; it takes resilience and diligence to improve. Neuroplasticity does not occur without significant active engagement over a lengthy period. Not surprisingly, some critics use this as a way to dismiss this work. They say, “Why would you make children with learning disabilities work so hard? They are already struggling enough.”
Optimal cognitive functioning remediation for a severe learning disability, and in some cases an accompanying attention disorder, can take three to four years in a full-time school environment. Some of our most remarkable children persistently and repeatedly worked on cognitive exercises in order to achieve their noteworthy accomplishments and become honours students after transition to mainstream classrooms. The Arrowsmith Program’s belief is that nothing is wrong with hard or tiring work if it has an important purpose. This is how many great minds developed breakthroughs in engineering, physics, chemistry, architecture, literature, music, mathematics, medicine, and other disciplines. They spent hours going over ideas and theories. Similar to the body’s physical training, in order for the brain to become efficient at a particular task or behaviour, it must practise it repeatedly. Children with learning disabilities and attention disorders must stimulate and strengthen their brains’ ability to learn with repeated cognitive exercises in order to overcome their neurological weaknesses.... "
Source
http://www.sharpbrains.com/blog/2010/12/08/using-brain-plasticity-to-help-children-with-learning-disabilities/

De Belevenis

2010-12-25T02:25:00.000-08:00

This is a special project for special children made by artists. A big tent build as a mobile construction is placed on the sport field near Rotterdam harbor. It will stay there for a few months Than it will be reconstructed and transferred to another town in Holland. This way everyone has the possibility to see it in their own neighborhood. A really special project.
Inside this big tent is placed a fantasy world designed to stimulate our six senses in many different ways. The project is called “De Belevenis” which means The Experience. Every visitor can get their own unique experience depending on his/her individual level of understanding/functioning.
The tent offers 6 large rooms created as a specific world of sensations: Ocean, Sky, Jungle, Arctic, Arabic and Red Surprise. Each of them offers their own special sounds, tactility and visual stimulations in the range: from simple to more complex. Sometimes we have to press a large button and snow begins to fall, or a wall starts to vibrate, or a big elephant head waves with his large ears.... Sometimes we have to open a door and bells start to ring inside, or a small carousel begins to turn around, or a strong aromatic odor comes out. There are big trampolines, large soft tunnels, water beds, and life size tubes with a light show to stand in. In different places you'll find slow and large slide-shows of fish swimming in the ocean, sounds of birds and a misty jungle atmosphere . . . . . A really amazing world of different experiences for our senses. When you get tired of the impressions you can go to a special room with a king-size warm water-bed. Here is a lady who will give you a relaxing massage with aromatic oil as long as you need it.
This project is created only for children with special needs and old people with dementia. The groups were small up to 30 visitors for a day so that everyone has enough time to make discoveries and to take their own experience from it.
Here are some photos to get an idea about “De Belevenis”:

Every year we visit De Belevenis once. This was our third visit.
It was a present from Marijke, our neighbor who plays with Dejana already for 10 years. Every week she comes on Thursday morning for tree hours of exercise. This time she took us to a special event outside. Marleen, another member of our team joint us as well.
I am always curious about changes that Dejana might show in comparison with the year before.
And she surprised us pleasantly. It was the first time that she went from one object to another very curiously and observed them carefully. This is not usual for a child with Rett syndrome. We were very exiting to see that she turned her head and looked around, that she recognized big animal-toys from a distance, smiled and turned her body to go there and touch them. She did it in slow motion but it was very close to a “normal child's” behavior. So nice to see it! Dejana observed her surrounding and could orientate in space all on her own. She did this for a half an hour. Then she got tired and needed a rest. I was very happy with this improvement. It occurred a few times during that day that she was showing clear initiative.

The second surprise happened on the large trampoline. We climbed on it together and let Dejana lay down as years before. Than we helped her to stand up expecting her to fall on this unstable surface, but she didn't. She stood and kept her balance even when we started to jump around her. She really enjoyed herself as well as we did. We jumped for 20 minutes, laughing and singing and Dejana was balancing in the middle proud on herself. It proved again that she likes challenging situations so much that she performs them better then daily actions. I keep on thinking that girls with Rett syndrome don't get enough challenges in their life's even if it absolutely necessary.

And then we came by two clowns. Is was not very busy at “De Verbeelding” that day, so the clowns were there only for Dejana. It was fascinating to see how especially one of the two ladies made contact with Deja and told her a story without saying one word. De silent clown kept Dejana’s full attention for more than twenty minutes. She had a small bird that sang a little song, she laughed at Dejana, had a wooden box with beautiful little things in it and Dejana followed it all carefully. All the time without putting her thumbs in her mouth (stereotype), what she almost always does when she is not “at work”. They really were in contact with each other, looked in each others eyes, there was connection and understanding. The changing to the second clown was the break point. That act took only a few minutes but Dejana’s concentration was over. She stood up and…….. went to the first clown and gave her a little Deja-kiss. We were touched.

After all this exiting Experiences we finally finished in the relaxing room. Dejana laid on the large warm water bed and got her body massage. Her legs and feet got relaxed and than hands and arms. During the massage of her back she felt in sleep.
It was a wonderful day for her. Thank you Marijke for a nice present.

Life threatening breathing disorder ...

2010-12-13T09:48:00.000-08:00

... of Rett syndrome can be prevented !!!!

A group of researchers at the University of Bristol have sequestered the potentially fatal breath holding episodes associated with the autistic-spectrum disorder Rett syndrome.

However, an international team of researchers based at Bristol's School of Physiology & Pharmacology have discovered a way to prevent these episodes of breath holding in a mouse model of Rett syndrome. Using a unique combination of drugs, they have discovered that the area of the brain that allows breathing to persist throughout life without interruption has reduced levels of a transmitter substance called aminobutyric acid.

Professor Julian Paton, who co-led the research, said: "These findings make a significant step in our understanding of the reasons why breathing is intermittent in Rett syndrome and give exciting hope for the future for alleviating young girls from these awful life threatening episodes of breath holding, which they experience regularly throughout the day."

This autistic condition is caused by a spontaneous mutation in the gene that encodes for methyl-CpG-binding protein 2 or MeCP2. MeCP2 is very abundant in the brain and is a transcription factor that decodes DNA essential for making proteins in brain cells.

The researchers found that by increasing both the amount of aminobutyric acid (a vital brain signalling substance) and stimulating a specific type of serotonin receptor within the brain to suppress the activity of brain cells that normally depress inhalation, this abolished the life threatening episodes of breathing arrests.

"These exciting findings are particularly relevant since the drugs we used already have approval for use in humans to treat other illnesses, so the hope is that our findings can soon be translated across to sufferers of Rett Syndrome, and possibly other breathing disorders" said Professor John Bissonnette from the University of Oregon who co-led the study.

The findings of the study, which was funded by the International Rett Syndrome Foundation and the National Institutes of Health, are revealed in a paper published by the journal – Proceedings in the National Academy of Science (PNAS).

More information: http://www.pnas.org/

Exercise and the Birth of New Neurons

2010-12-06T06:31:00.000-08:00

It took decades of research to persuade scientists to give up their long-held belief that new neurons could not be formed in the brains of adults, but there is no longer any doubt about it.
It is now well-established that strenuous physical exercise stimulates the birth of new neurons in part of the brain that is critical for memory, the hippocampus.
Immature non-neuronal cells in the adult brain (glia) respond to protein growth factors that are generated in the body during robust physical activity. These growth factors stimulate the mother cells to spawn new neurons in the hippocampus. Amazingly, these nubile neurons then migrate through brain tissue to find their proper place in the neural circuitry. Even more remarkable, new research proves that the new neurons are then able to wire themselves into the existing network of connections to boost performance in memory, just like adding RAM chips does for a laptop. But why? Why should pumping muscles build more brain cells?

In the beginning human activity was be divided into two states: lounging and looking for food. Searching for food was the intellectual arena of cognitive challenge. The purpose of memory back then, as it is today, is to integrate novel information that is likely to be important to our survival in the future. This, the scientists suggest, is why the body hatches new neurons in the memory region of the brain when we exercise -- to better equip us for the cognitive demands of the excursion.

Building brains by exercise has been shown to provide animals with an increased cognitive reserve, meaning that after brain injury or disease that kills or damages healthy neurons, animals that have been forced to do reps on the exercise wheel before a brain injury, do far better in recovering. The animals forced to work out also have much slower cognitive decline in aging compared to sedentary cage-mates, because the loss of brain cells is a normal process of aging.

Surprisingly, the same drugs used to treat chronic depression have been found to stimulate the birth of new neurons in the hippocampus. This ancient biological connection between muscle and brain can account for how pumping iron could benefit our mental health as well as our cognitive health.....

Gerd Kempermann and colleagues at Stanford, the University of Zurich and Dresden, Germany, their recent paper published in the journal "Frontiers in Neuroscience."

http://www.livestrong.com/article/118785-exercise-brain-cell-growth/

Mechanism of Exercise-induced Neurogenesis

Exercise increases growth factors in the brain, such as vascular endothelial growth factor (VEGF) and brain-derived neurotrophic factor (BDNF), according to a 2007 literature review by Henriette van Praag. Both factors make it easier for new neurons to grow VEGF by increasing blood vessels and blood flow to new neurons, and BDNF by increasing the rate of neurogenesis.

Myths and Facts

2010-12-02T01:27:00.000-08:00

This time my story is all made of quotes that are very close to my own thoughts.
I collected them from different Websites. They mention some of our prejudices / myths about people with special needs.
I hope these few examples can move us to find out what kind of prejudices we have. By correcting them we can make a friendlier surrounding for the people with different disabilities. It is worthy to think about it.

“Individuals with disabilities are people first, and like all people they want to be accepted and understood. They want other people to know that their disability is not all that they are. It is an inconvenience, but a disability need not be a handicap unless the environment they live in handicaps them with physical or attitudinal barriers.”

“When communicating with a person who experiences a disability speak directly to the individual, not to the interpreter. Treat a person with a disability as a healthy person. Because an individual has a functional limitation does not mean that he/she is not worthy of comunication.
People who are disabled think and feel the same as anyone but, the public seems to think that they should react to situations differently than other people do.”

Myth 1: Wheelchair use is confining; people who use wheelchairs are "wheelchair-bound."
Fact: A wheelchair, like a bicycle or an auto-mobile, is a personal assistive device that enables someone to get around.

Myth 2: People with disabilities are more comfortable with "their own kind."
Fact: In the past, grouping people with disabilities in separate schools and institutions reinforced this misconception. Today, many people with disabilities take advantage of new opportunities to join mainstream society.

Myth 3: Mentally retarded children are incapable of learning anything and so everything has to be done for them.
Fact: These children are capable of learning, although how much they learn and at what speed they learn may vary. The harder we work with them, the more they will learn and more independent they can become. There is no better solution to their development than working hard with them.

Myth 4: Children/people with disabilities can't learn.
Fact: When children with disabilities (even those with severe disabilities) receive appropriate instruction, they grow academically. As we learn more about how to best teach students with disabilities, their achievement and successes increase, as evidenced by the increasing number of students with special needs graduating from high school and going on to pursue post-secondary education

Myth 5: Your child needs a type of program or placement that isn't offered by your school district, so he or she will have to take what's available instead.
Fact: Your child has the legal right to a program that is suited to his or her individual needs, and in which he or she can make meaningful educational progress. If the district doesn't have such a program, it must take steps to make one available - even if that involves special arrangements or expense.

Myth 6: Your child has a severe disability, so he or she must be placed in a special "centre" for children with disabilities, or in a private school.
Fact: Your child must be educated with non-disabled children to the maximum extent appropriate to the child's needs. This means that, if your child could receive the services on his or her IEP in a regular school, the program must be offered there. Moreover, if your child could be educated with non-disabled children in a regular classroom for all or part of the school day, the district must so specify on the IEP and insure that such "main streaming" occurs. Only if your child's IEP cannot be carried out appropriately in a regular school should a special school be considered. And only if the child's needs cannot be met in a district or IU program can the district offer a placement in a private school.

(Brochure Developmentally Disabled Assistance and Bill of Rights Act, P.L. 101-496, and the P&A for Mentally Ill Individuals Act, Prepared by: Education Law Centre)

Myth 8: People with disabilities need sympathy
Fact: People with disabilities do not need sympathy or pity. They also don't need to be told that they are brave or courageous for living with a disability. Some young people with disabilities are brave, some are not, just like everyone else. People with disabilities do not need to be treated as children, they need opportunities to maximise their independence.

Fact: People with epilepsy are not "epileptics."
The word "epileptic" should not be used to descrbe someone who has epilepsy, as it defines a person by one trait or problem. A label is powerful and can create a limiting and negative stereotype. It is better to refer to someone as "a person with epilepsy" or to a group of people as "people with epilepsy."

Goethe:
Treat a man as he is, he will remain so. Treat a man the way he can be and ought to be, and he will become as he can be and should be."

Holiday (part 3) To be proud of

2010-11-10T02:02:00.000-08:00

Other than the problems with the water, the physiotherapy, walking and sleeping went very well this time.
We even walked in the evening sometimes and sat on the terrace of the restaurant for a while. Dejana liked it extremely and looked at us with joy in her eyes. I think she was really proud to be between all this people and to look at the crowded boulevard, to drink (sugar free) juice and to eat a piece of sugar free biscuit. And people did not stare at us as usual and this made me also feel good and stress free.
Every morning after breakfast, we climbed a small hill in front of the hotel. It was a quiet and nice moment in the day to walk for a half hour up and down the steep path of that park and listening to an ‘early bird song’. At this moment it was warm but not so hot yet. I took some food from the restaurant and so we always got a company of a group of street dogs coming up the hill with us. Dejana liked them too.
Climbing was usually the biggest challenge for Dejana because of the different gravity power than during walking on the flat ground. For that reason I used to help her by pushing her from the back. And I did it this time too. Two weeks long. In the third week I just tried to let her climb alone and warned her that I will not help her anymore. It was a try and not a believe that she would do it.
But surprisingly for me .... She did it. All alone and happy. She walked very slow but with a correct body position and well coordinated too. I always considered this as more important that the speed. It was a moment of a private celebration. How can I explain this to anyone that does not have any experience with the Rett syndrome how great the improvements are that Dejana made???? So I was happy on my own.
And of course, the rest of the holiday she walked up the hill alone with more and more confidence in herself. Down the hill I still had to help her not to fall over.

In fact I wouldn’t have came to this idea if we didn't had a very energetic and pushing therapist.
An extremely professional and young lady in her 20ties, enthusiastic and a fighter. Miss Cristina saw after her first physio-session that Dejana could do exercises on her own. We only had to give her enough time to concentrate and plan her own activity. We also needed a strong motivator like a peace of fruit and a challenging therapist like Christina. Dejana walked on the stepping stones and over the obstacles without any support. She crawled over the high pillows, got up from laying to sitting, grasped a ball high and low (with weight on her arms), balanced on her knees and on one leg.
I was super proud and Dejana was too.
It didn’t matter how difficult the task was, she smiled with a pride if she succeeded.
And after every physio session she was significant more flexible in her all body and walked more upright than before the treatment. It is a temporary effect of course but still it is more than clear that movement does good for the girls with Rett syndrome. I do not have any doubts about this topic any more.
Two times of 30 minutes physiotherapy a day in the period of tree weeks didn't trigger any Vaslavas/epilepsy attack at all. That was a big improvement compared with a year ago.
“And she was better in coordination and understanding the tasks”, said one therapist who worked with Dejana last year. It was one more reason to enjoy the holiday.

Holiday (part 2): Water challenge

2010-10-13T00:05:00.000-07:00

Well, this time traveling was an excellent happening for me. Normally there were two moments during the flight that always have been difficult for Dejana: when the plain gets up or down. The raising air pressure in the cabin is too unpleasant for her ears that she may cry or shout. But we found the solution! A hand full of raisons or several sugar free sweets do the trick. With this trick we can now land ‘successfully and "quiet", keeping the pressure on her ear under total control.
Eventually it ended in a good journey.
After a while we found our self's in the apartment of the hotel. We had two rooms, two bad-rooms and a small kitchen with an extra large terrace. All of it for us alone. This may only be a dream for the most tourists in the middle of the crowded high season. But I think that we deserved a dream holiday as we are en extraordinary family that carries the Rett syndrome in our baggage.
The holiday could finally start. It was summer, sunny and hot, just as I like it to be.
The most ideal place for all three of us was the large terrace. In this place we avoided the crowded beach and Dejana avoided the burning sun by laying halfway in the shadow. She could do this as long as she wanted. This time Dejana tolerated the sun much better and longer than ever before. She got a nice light brown color on her legs and back as they were exposed to sun but her arms and face stayed white as they were in the shadow all the time. Pity for this white parts! We would like so much that Dejana could get brown all over. It is very nice for me to see the brown color on the children along the beach. It belongs with the sun and summer. It is a sign of health to as I now realize. Children that are sick can't stay on the beach all day, they do not tolerate strong sun and they usually stay white all year long. It is something that I now know. Being outside, playing on the beach, swimming, jumping and getting color is the privilege of a good health. People with “usual-children” do not realize how happy they should be with this simple and ordinary things.
Anyway, we had enough sun on “our” terrace. And we had a therapy program for Dejana to. Because the hotel is a part of a spa we could do this program for three weeks. Dejana got a daily program that included manual massages, jacuzzi's, underwater massages and two times a day half an hour physiotherapy. And there was still plenty of time in betweens to rest, walk outside or to do whatever else.
We divided Dejana's therapeutic activities between the two of us. Her father took her to the massages and baths and I took her to the physio-sessions. I also went to swim with her later in the afternoon.
But now we are getting to the point of this story.
This time water was the extremely challenge for Dejana. And so, for us to.
Dejana likes to swim and we used to stay in the sea for more than an hour. Swimming and floating along the beach and looking at the children, who were playing with a ball or were jumping in the sea, is Dejana's favorite activity. We even had to laugh sometimes. So funny it was.
But.... the moments of getting in to the water and out of the water were not funny at all.
Dejana had Rett kind attacks called Vaslavas in almost all of this situations. Getting in & out of the sea, bath or pool caused big trouble for some reason.
And as it was a water holiday this happened all of the time.
We observed those moments very carefully and brainstormed about the problem from all sides, trying to find the reason for Vaslavas, but it was not that easy.
What we found is that getting in the water till the hips was not a problem at all. We could walk through the sea for an hour without any sign of an attack, but at the moment that Dejana got her upper body down the attack would start. I saw it as a raising pressure to her diaphragm and chest and gave provided a obstacle to the breathing. The Cranial nerves and the Brain stem again. Her father saw it as a strong reaction on the temperature changes between the air and the water. What it is we still do not know but we decided to work on the problem by repeating this kind of situations several times a week. That is our way of fighting the Rett syndrome. If there is a challenge do not avoid it but face it for as long as it becomes no challenge any more. Of course we will do this step by step in a controlled situation preventing Vaslavas and at the same time racing her sensory tolerance to such situation more and more.

Holiday (part 1) Traveling like a queen

2010-08-25T04:28:00.000-07:00

Over the years traveling was a night mare for me.
It lasts only one day but it costs me a whole week of energy. It is just two hours in the aeroplane but we have six or more hours attached to it. Traveling to the airport, passing two borders, waiting in small and crowded rooms and then comes a flight delay as standard surprise. Oh God. This delays are sometimes longer than the flight self. We are than already stuck in a waiting room full of passengers raising my imaginations of Dejana getting mad of that and starting to cry, or scream, or... who knows what???
Well it didn't happen so often and if she sometimes got irritated it was short and possible to control it with some snacks or a little songs that she likes. But I was nervous and stressed anyway. As I already said: the worst thing that happened to me is not Rett syndrome but the surrounding. People that are staring at us like we are a walking theater and my temper that strongly pushes me to say something offensive to them. They interfere in my privacy and what is going to prevent me to let them know that I didn't ask for it. Happily most of the people don't pay extra attention at us. But only a few of them staring intensively are enough to make me feel unpleasant and uncomfortably. Nobody likes to be deeply watched I guess. Especially not in such a tensed situation as traveling.
So: What is going to happen this time????
I could imagine all kinds of situations but one thing I could not imagine: That I will truly enjoy in this journey this time!!
This time I traveled like a queen.
It happened because of a special service that was performed for a lady in a wheelchair and we were asked, quite by chance, to join her with our daughter. And it was a wonderful experience. We were all the time treated special and separately from the rest. We had a guide who led us from the row and we could pass the border quick. No long waiting, long standing, or much noise. A lot of surround talking makes Dejana sometimes hyperactive and as a result she may push other people or step out of the row. But this time it went smooth and quick. After that we went to a small waiting room for special passengers. It was quiet and relaxed with one or two persons with enough chairs and place to walk around and nobody to watch you. I was relaxed. For the first time in so many years. Dejana could shout or step around as long as she wanted but.... she didn't. She was relaxed too. Is there a relation? Yes I am sure.
And than we were invited to the plain. Quit, slowly and with a special car that had a lift. Dejana performed great holding a gate on her own and walking into the plain. One old lady was with us. In the plain we had enough time and space to come to our place and to sit relaxed. We were the first and only passengers at that moment. After a while the rest came in stumbling .... And so on. Till the hotel.
It was never so pleasant to travel in my whole life. And it is sure worth to try it again. I ask myself why we didn't do it before??? And it is funny to think: If we didn't meet Rett syndrome I will never know how the "queen" travels.

Possible roll of epilepsy

2010-05-17T04:46:00.001-07:00

New nerve cells even in old age

After birth the brain looses many nerve cells and this continues throughout life – most neurons are formed before birth, after which many excess neurons degenerate. However, there are some cells that are still capable of division in old age – in the brains of mice, at least. According to scientists from the Max Planck Institute of Immunobiology in Freiburg, different types of neuronal stem cells exist that can create new neurons. While they divide continuously and create new neurons in young animals, a large proportion of the cells in older animals persist in a state of dormancy. However, the production of new cells can be reactivated, for example, through physical activity or epileptic seizures. What happens in mice could also be applicable to humans as neurons that are capable of dividing also occur in the human brain into adulthood. (Cell Stem Cell, May 7th 2010)

You can't teach an old dog new tricks.
The corresponding view that the brain loses learning and memory capacity with advancing age prevailed for a long time. However, neuronal stem cells exist in the hippocampus – a region of the brain that plays a central role in learning and memory functions –that can produce new nerve cells
throughout life.
It is known from tests on mice that the newly formed cells are integrated into the existing networks and play an important role in the learning capacity of animals. Nonetheless, the formation of new cells declines with age and the reasons for this were unknown up to now.

The scientists observed more newborn hippocampal neurons in physically active mice than in their inactive counterparts. "Consequently, running promotes the formation of new neurons," says Verdon Taylor.
Pathological brain activity,
for example that which occurs during epileptic seizures,
also triggers the division of the neuronal stem cells.

The different stem cell populations are easy to distinguish under the microscope. The first group comprises cells which lie perpendicular to the surface of the hippocampus. Most of these radial stem cells are dormant. As opposed to this, over 80% of the cells in the group of horizontal stem cells – cells whose orientation runs parallel to the hippocampus surface – continuously form new cells; the remaining 20% are dormant but sporadically become activated. The activity of genes such as Notch, RBP-J and Sox2 is common to all of the cells.

Radial and horizontal stem cells differ not only in their arrangement, apparently they also react to different stimuli. When the animals are physically active, some radial stem cells abandon their dormant state and begin to divide, while this has little influence on the horizontal stem cells. The result is that more radial stem cells divide in active mice.
The horizontal stem cells, in contrast,
are also influenced by epileptic seizures.

It would appear that neuronal stem cells are not only found in the brains of mice. The presence of
neurons that are formed over the course of life
has also been demonstrated in the human hippocamus.
Therefore, scientists suspect that different types of active and inactive stem cells also arise in the human brain. It is possible that inactive stem cells in humans can also be activated in a similar way to inactive stem cells in mice.
"There are indicators that
the excessive formation of new neurons
plays a role in epilepsy.
The use of neuronal brain stem cells in the treatment of brain injuries or degenerative diseases like Alzheimers may also be possible one day," hopes Verdon Taylor.

Source: Max-Planck-Gesellschaft

New view on developing brain

2010-05-17T04:04:00.000-07:00

Mechanism found
that prepares the brain of a newborn
for information processing

With their French colleagues, researchers at the University of Helsinki have found a mechanism in the memory centre of newborn that adjusts the maturation of the brain for the information processing required later in life. The study was published this week in an American science magazine The Journal of Neuroscience.

The brain cells in the brain of a newborn are still quite loosely interconnected. In the middle of chaos, they are looking for contact with each other and are only later able to operate as interactive neural networks.

Many cognitive operations, such as attention, memory, learning and certain states of sleep are based on rhythmic interactions of neural networks. For a long time the researchers have been interested in finding the stage in the development of the brain in which the functional characteristics and interconnections are sufficiently developed for these subtle brain functions.

Key players in this maturation process include a type of nerve cells called interneurones, and recent research sheds light on their functional development. The researchers have noticed that the activeness of the interneurones change dramatically during early development. In the memory centre of the brain they found a mechanism which adjusts changes in the activeness of interneurones.

The interneurones nerve cells are kind of controller cells. In the nervous system of a newborn they promote the creation of nerve cell contacts, and on the other hand they prevent premature rhythmic activity of neural networks. During development the controlling role will change, and the result is that the neural network becomes more efficiently rhythmic. This can be seen, for example, in the strengthening of the EEG signal during sleep.

The mechanism adjusting the activity of the interneurones is related to the development phase which prepares the brain to process and handle information needed later in life. The finding may also offer more detailed means to intervene in the electric disorders of developing neural networks, such as epilepsy.

Source: University of Helsinki

Did you know that....

2010-03-31T08:21:00.001-07:00

... There is no country in the world where disabled people’s rights are not violated
(Disability Awareness and Action, Hurst 1999).

- numbers: The World Health Organisation (WHO) estimates that disabled people make up 10% of the population - around 650 million people.

- numbers: More than 25% of the entire population is either directly or indirectly affected by a disability (UN and World Bank).

- numbers: There are 55,000-75,000 children with a moderate or severe learning disability in England (Department of Health)

- numbers: There are an estimated 210,000 people with severe and profound learning disabilities in England: around 65,000 children and young people, 120,000 adults of working age and 25,000 older people (Valuing People, Department of Health)

... Research indicates that violence against children with disabilities occurs at annual rates at least 1.7 times greater than for their non-disabled peers.

... Women and girls with disabilities are particularly vulnerable to abuse. A small 2004 survey in Orissa, India, found that virtually all of the women and girls with disabilities were beaten at home, 25 per cent of women with intellectual disabilities had been raped and 6 per cent of disabled women had been forcibly sterilized.

... Four times as many people with learning disabilities die of preventable causes as people in the general population
Disability Rights Commission)

... Ninety per cent of children with disabilities in developing countries do not attend school, says UNESCO.

... For every child killed in warfare, three are injured and permanently disabled (they were born helty).

... Expressions such as ‘mentally retarded’ or ‘mentally handicapped’ are misleading and negative, and can cause community ignorance, which further isolates people with intellectual disabilities.

... Children with a learning disability are often socially excluded and 8 out of 10 children with a learning disability are bullied.

... 75% of GP´s (doctors) have received no training to help them treat people with a learning disability.

... It's important to understand that people with a learning disability are individuals with unique personalities, likes and dislikes, goals, and aspirations.

... If you have an intellectual disability, it means:
* You still experience and feel things like joy, anger, pride, hurt, jealousy and other human emotions.
* You want the opportunity to have a range of life experiences.
* You learn and develop more slowly than average, but you can learn

... People with learning disabilities generally have average or above average intelligence. Their learning disability, however, creates a gap between ability and performance.

Therapy or not? That is the question!

2009-11-16T02:18:00.000-08:00

In fact it was never a question to me. We started a stimulation program a long time before we got the right diagnosis. And when we finally got the diagnosis, the 'specialists' promised us such difficulties with Rett syndrome itself that it couldn't be compared with any intensive therapy we choose. My thoughts were: if life with Dejana is going to be unusual anyway, let's do the therapy then. We had nothing to lose but maybe something to win. And we started.

I believed in the power of the stimulation programs and after all I am happy I did.
We started with HOPE, enthusiasm and a lot of extraordinary people around us. But the world of specialists was not there. Why? Because the literature on Rett syndrome at that time (10 years ago) was very pessimistic. They even thought that it is a degenerative disease. This was based purely on statistics and not on molecular research. But … the problem is that these statistics were only able to tell us about the cases in the past where intensive therapy hadn't been done. And of course, all these girls/women tended to deteriorate in their health and motor skills that much that they were only able to vegetate and receive a handful of medicine each day. Watching them specialists came to the conclusion that Rett syndrome had to be a degenerative proces.

I didn't want ... or I just couldn't accept this. I had no option but to fight. And we started therapy.
Hopefully this view has changed now based on research. Since then Rett syndrome hasn't been described any more as a degenerative process.

In all these years I've had to face many more official prejudices: about life long medication, unavoidability of scoliosis, absence of memory and learning, inevitability of foot deformity, necessity of total anaesthesia at the dentist, necessity of giving up .... and so on.

And to ignore them one by one took a lot of our energy and time. Far more than any intensive therapeutic program could do. So we decided to avoid medical institutions as much as possible. They couldn't help Dejana to get better. Furthermore their deep pessimistic view on Rett syndrome was not the road that I wanted to walk on. In that way we also saved Dejana from the drawer full of medication that usually goes together with Rett syndrome.
Now after all I can say that we are happy with this decision.
But then I had doubts and questions that nobody could answer. No, it is not easy to choose your own way. The only official support that we had was BIBIC and the Brain Train team.

In the meantime I saw a lot of girls with Rett syndrome and I see them againevery year. At the start a few of them were even better functioning than Dejana. They walked better, used their hands, gave good response and could say some words. Now they are very sick despite all the medication and
operations they have been through. I wouldn't be surprised if genetic research one day will show that most of the symptoms in Rett syndrome are the result of today's medical interventions and the lack of a stimulating environment. And that only a few of the symptoms are in direct relation with
gene mutation itself.

How does it feel to have a child with Rett syndrome?

2009-11-09T02:48:00.000-08:00

This is a good question, but there are no easy answers.

Not because Rett syndrome is so difficult but because our personal situation, family, neighbours, doctors, siblings, therapists, or education are very different and they all determine how we may feel about it. Living with Rett syndrome is not the same in every family. Our own prejudices are colouring it and most of the time this colour is dark.

It is dark because 'specialists', as soon as they can, will make sure that we adopt their deep 'medical' pessimism. From the very beginning. They do not give us any chance to fight Rett syndrome. No chance to believe in any other road than the predicted one. A road which is based on their statistics of other children who also didn't get a chance to fight Rett syndrome.

And so the circle of: NO hope- NO action- NO result, will be closed again. For us and for our girls.

"Don't try anything, don't lose your time, don't hope, don't believe. Go > home and surrender." That is the usual doctor's advice. Or "make another child instead".
Why? Is she not counting? Is she not A child? Well ....

Our society is not yet ready to fully respect individuals with Rett syndrome or any other developmental issue.
Our society is not adult enough to give a chance to these children, to believe in them and their possibilities, to give them time and to invest in them.
Our society is still discriminating people by their diagnosis even if it is not said out loud.

When people 'silently' discriminate a child with Rett syndrome than:
– they rather see her disabilities than her possibilities;
- they look with pity at their parents;
– they believe that nothing CAN be done to improve the child's development;
– they believe that the child is NOT able to learn anything at all;
– they overprotect her from her environment and normal life;
– they don't speak directly to a child that does not communicate with words;
– they like to stare at you: in the street, on the beach, in the shop, bus, park all over, even if they know very well that their behaviour is antisocial;
– they believe that they are the lucky ones not to have such a child and they think that we don't know their thoughts but we see them easy, through their body language, eyes and voice.
Always!!! With no exception.

Discrimination is still present among ordinary people and among the ordinary 'specialists'. Facing this daily was more difficult for me than Rett syndrome on its own. If I am totally honest I have to say: The most difficult thing in Rett syndrome for me was society NOT the symptoms.

With Rett syndrome itself I declared war from the beginning. And I found him after all, a very interesting enemy that shows many faces at the same time and likes to surprise you just when you think he will surrender. Probably all serious diseases will show the same evil character but this doesn't mean that we have to stop fighting them. On the contrary.

Quote: When you do nothing, you feel overwhelmed and powerless. But when you get involved, you feel the sense of hope and accomplishment that comes from knowing you are working to make things better.--Pauline R. Kezer

Yes, this seemed logical to me, but after some time I realised that it was not a usual road that most people choose to walk on. We become the pioneers in such a decision and in such an experience. It is not easy to be a pioneer, but still I am happy that we have the power and strength to walk on that narrow path up the hill, where Rett syndrome has not such a dark heavy color.
There is much work here, much planning and structured days, unusual life .... but his is the fate of Rett syndrome anyway: with or without therapy. Still it helped us and HER to miss the most dramatic side of this neuronal disorder. And that makes life easier.

Treatment for epilepsy is a possible culprit ...

2009-11-01T13:07:00.000-08:00

... for development of schizophrenia

Researchers say antiepilectic drug treatments administered when the brain is developing appear to trigger schizophrenia-like behavior in animal models. In humans, having a history of seizures in infancy is a significant risk factor for development of schizophrenia later in life, but it is not known whether the elevated risk is due to seizures themselves, or from side effects antiepileptic drug (AED) treatment.

In research presented at the 39th annual meeting of the Society for Neuroscience, Georgetown University Medical Center researchers show that exposure to AEDs during critical periods of brain development in animal models increases schizophrenia-like behaviors.

"We know that early-life exposure to AEDs such as Phenobarbital triggers cell death in many brain regions associated with the onset of schizophrenia," explains Guillermo Palchik, a doctoral student in the department of pediatrics at GUMC. "This study not only suggests a relationship between the drugs and schizophrenia, but it raises important questions regarding the side effects of a widely-used class of drugs. Phenobarbital and other AEDs are not only used as a treatment for seizures but more generally in the treatment of migraines, neuropathic pain and mood disorders, among other ailments, and can be considered drugs of abuse."

Source: Georgetown University Medical Center