He descubierto que todo lo que pasa acaba teniendo sentido. En la apraxia y el síndrome de joubert los cilios que están en los microtúbulos juegan un papel muy importante. Hace tiempo mientras veía y escuchaba algo que yo consideraba puro entretenimiento escuché las palabras microtúbulos y física cuántica alojadas en un entorno que, aunque sanitario, hablaba de muerte y estaba alejado, supuestamente, de las enfermedades raras,Fuí consciente de que si no hubiera visto aquel video jamás habría despertado ante la realidad que hay más allá de la que estamos viviendo, y que la posibilidad de que Arnau en otra realidad no esté enfermo (porque lo está aunque no me guste reconocerlo) puede llegar a convertirse en la nuestra...Gracias.

lunes, 13 de diciembre de 2010

A milers de quilòmetres i tant junts.( OMA ó Apraxia Ocularmotriu)

Planet Earth

Ja havia dit que faria una entrada on hi ha il.lusió i esperança. A mi m'ha donat força per seguir endavant quan en un moment donat pensava que estavem molt solets (si, ja sé que tinc tres terapeutes fantàstiques, la Laura, la Gisela i la Regina, però apart d'elles semblava que no hi havia ningú amb capacitat per comprendre que sentim envers el nostre fillet), però ara ja sé que no.

Són histories d'arreu, sobretot d'Estats Units, on he trovat un foro de malalties rares. I en moltes entrades d'aquest foro hi veig reflexat el meu fill. En copio unes quantes i demano que aquells que només es miren el malic, facin un cop d'ull a aquestes històries, des de juliol del 2009 a dates d'ara.

1-    Hello, my son who is now 6 months old was recently diagnosed with ocular motor apraxia. He sees perfectly well but can not follow moving objetcs with his eyes. In order to follow them, he has to move his head. I live in France where only 50 cases were described and I got in touch with a family whose 2-year old son is also affected. I would be very interested in chatting with people or families who have a member with this disease who is adult or teenager. I am indeed eager to know how my son's life will be affected by this disease. 
For now, he has no other sign except a low testosterone rate, which was corrected by 2 shots last month.
Thanks for your help.

resum: Hola, sóc la mare d'un petit de 6 mesos amb apraxia ocular. No pot seguir els objectes amb els ullets. A frança només hi ha 50 casos. I té interés com serà la vida del seu fillet amb la malaltia que pateix.

2-    He is doing great. He does have some trouble with team sports, but loves swimming, & he does ride a bicycle. He likes to play catch, but it's always been harder than for most children.
He was late in learning to crawl & walk, & always wanted to hold your hand. Talked at a normal age though. He does need more time than most children to answer verbal questions. You have to wait, where most children will answer quickly.
He did have physical therapy when he first started walking & for a couple of years after. Jumping was hard for him. It's apparently a common problem for children with vision difficulties, because they really want to keep their feet on the ground. Balance has been hard for him & he can't keep himself from falling the way most children can, which is why team sports are hard. He plays well with other children, but he is careful. 
He wears glasses because he also has trouble with his eyes crossing. Other than that he has no special equipment. 
At a young age he did a fair amount of "head jerking" to get his eyes to track better, but now it's usually only if he's tired. He doesn't seem to have any trouble watching TV or using a computer. He's a very good reader & does well in school. He's a very happy, loving little boy who doesn't seem to notice that he is any different than anyone else. His parents worry that there may be other problems that are as yet undiagnosed. We also worry about teasing at school as he gets older, but hopefully his parents will be able to help him with that.
I hope this helps you some.

resum: la Karen ens parla del seu net. Un nen que ja té set anys i que cada cop va millor. Saltar és dificil per a ell, però és un problema comú als nens que pateixen problemes visuals. Va gatejar i camina tard, i va parlar a l'edat normal, però ho fa lentament i triga una mica més a respondre. Cada cop fa menys movimens amb el cap excepte quan està cansat, i no té problemes en centrar la visió a la tele o l'ordinador.  Llegeix bé i a l'escola va bé. Els pares es preocupen per les malalties asociades que poden haver en un futur. I també per les brometes que li pugin arribar a fer quan sigui més gran a l'escola, però l'àvia diu que els pares l'ajudaran.
3-    I found this post and though I would join in. I have OMA and am almost 21 years old. I was diagnosed with OMA when my parents couldn't get me to look at them directly, they took me into the doctors who did a cat scan and learned that one of my eyes has a "bent" ocular nerve. This in turn has me jerk my head because the two images that my eyes are looking at can come to my brain at different times. I shake my head to clear that "distorted image" and start fresh with a new look, this is what the doctors told my parents in ~1992. I was made fun-of a lot in high school because of my head jerks, but now that I am 20, I don't notice them as much. I do know that I am very bad a sports, catching in particular because I cannot follow fast moving objects quickly. I did wrestling in high school and was on varsity, but while wrestling my head jerks were almost constant and remember my coaches talking about it one afternoon. Reading is very hard for me, I have gotten better at it but still, I prefer not to read. I still today notice that reading makes my head movements increase and that studying can be tiresome on my eyes quickly. It also has been hard for me to always find a good glasses prescription, they doctors almost always get it wrong the first time, I think this is because I have a very dominate right eye and very weak right eye. I don’t remember which has the bent ocular nerve. One thing is for certain, the older I become the easier OMA is for me to deal with. When I catch my eyes stuck on an image, I used to shake my head to refocus, but now i'm able to force my eyes to get "un stuck" while not shaking my head. The jerks have also gotten much smaller; when I was younger I would swing my head ~150 degrees side-to-side. I now only swing my head between 3 and 15 degrees side-to-side. I don't have any walking issues or speak impediments like I have read some children develop. I’m in college to be a Mechanical Engineer from the Colorado school of mines. I hope that this little story will help someone out there and that some parents can take a big breath, when growing up my parents never treated me differently and in fact I never thought twice as to why I had it. If your son or daughter has it, just let them know that they can do what ever they put their mind to. They will one day get better at OMA and its assorted symptoms. For me, I believe I started to walk around the age of 2. I called my mom but she did not pick up so I will post again when I get a hold of her. 
when it comes to reading I am still very slow and not very good at it. On my apple computer I have activated some of the handicap features so that I can zoom into a paragraph and read it easier. I also use a function where the computer can read a piece of text to me, this helps keep my eyes fresh throughout the day. one trick that I have found with my eyes is to not use the computer much right when I wake up because if I do, my eyes tire earlier in the day. 
I like to site near the front of the classroom in college because I like to make eye contact with the teachers. when I was in high school I sat near the center of the class. Of the teacher mad e assigned seating I always just sat where she told me. I never went up to the teacher and asked specifically for a spot.

I can drive and believe i'm a good driver, but as I think of it I did go through a red light the other day without even noticing it. I think my peripheral vision is smaller than most because when I drive with my girlfriend she points things out about my driving that I don't notice.

When I play games my eyes can sometimes get stuck or focused into one area of the screen. I just shake my heard a little bit to refocus, I don’t think anyone notices. I really like paying games and if I didn’t have homework that’s all I would do. My eyes get tired no matter what screen I look at, its like I have a time clock with how long I can look at a screen for any given day, whether that’s a computer screen, TV, or video game. 

When it comes to study I tend to stay with the numbers. I am notoriously bad a conceptual problems (no numbers) because of my reading. I am very slow with reading in fact I would say imp below average still. When I was younger it would take me an hour to read just 20 - 25 pages in a book. I really liked book-on-tape because you just listen to a narrator read the book to you. I have never told any of my teachers about my eye problem, I think its because if you saw me, I look normal, talk normal, and seem healthy so to tell someone about OMA its just a hard topic to convince. I don’t want be looked at as "disabled" because I am not, im able to have a normal life. Back in high school some kids would ask why I jerk my head and I would just tell them the answer. those kids were VERY understanding and not rude about my eye condition. I recommend being open about it because as I said other kids were pretty kind to me when I answered their question; basically I talked about it if someone asked. with being picked on, it was really just one kid that bullied me about OMA... he was just a mean kid.
I have not met anyone else with OMA; in fact this is the first time I have ever talked about it on the Internet. I was browsing Google and noticed that many parents had questions about OMA, and I could possible answer them. Im not sure how rare OMA is (do you?) but many eye doctors I have met do not know what it is. 
I feel if I met a person with OMA it would be like meeting any other adult. For me, the symptoms are not that noticeable anymore and I feel everyone else. Your son will get better at his vision and find his own special ways to cope with the difficulties, I just know it.

resum: aquest noi de 21 anys pateix apraxia oculomotora. Ara anirà a estudiar per ser enginyer de mines. Ens explica els seus problemes i les seves metes, reptes i tot el que ha aconseguit. Llegeix de manera lenta i de vegades utilitza la funció de lectura al seu ordinador . Pot conduir, però amb paciencia ho aconsegueix tot. No ha conegut mai ningú am Oma (que és com li dieuen a  USA a l'apraxia oculomotora). Demana comprensió i ser tractat com una persona normal doncs no es considera un discapacitat.

4-    My name is Haley
I am 19 years old and i have ocular motor apraxia. i was dignosed when i was little and had the same problems that i read from a couple of the post like turning my head to focus but i dont do that anymore. when i was little i had a ton of ocupational thearapy and pysical thearapy. as the years went by i have learned to deal. it has always helped to have my parents doing whatever they could to help. this year (my freshman year in college) i met someone for the first time with ocular motor apraxia. if you have any questions i would love to help.

resum: la Haley té 19 anys i té Oma. Té els mateixos problemes descrits per centrar la visió i sempre ha fet terapies. Diu que és el primer any que coneix algú a l'universitat que té Oma.

Aquí deixo l'enllaç:

Foro malalties rares apraxia oculomotora  (en anglés)

Ben aviat tindré més noticies...i la veritat, m'agradaria saber si hi ha més gent a Catalunya o a Espanya amb Apraxia Oculomotriu, que suposo que si.

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