Mom's Dad's of Dystroglycanopathy

[ABOlson]

Hi,
Please tell me if your child walks. What is their eyesight like? How do they communicate with you? What do they enjoy? What is their level of understanding?
What type of behavior issues do you have with them? What comforts them? We live in MN and I'd like my son to meet another child with MEB.
Do you belong to any groups/organizations that you feel supported by other, than this one?
April

[debbie]

Hi.  My 5 year old daughter has recently been diagnosed with dystroglycanopathy.  She took her first steps when she was 2 years old.  She first was able to get to a standing position without holding on to anything by the age of 2 1/2.  
Abby had eye surgery for strabismus--drifting eyes, when she was a little more than two and it made a huge difference!  Her vision is okay, just slightly nearsighted, but doesn't require any correction.  
Within the last year she has been using many more words!!!!!  She still talks using one or two words at a time, but more and more are now understandable to others.  We believe that she understands everything that we say.  Her expressive language is greatly delayed, but not her receptive.  
We do not have any unusual behavior issues with Abby.  She does get frustrated and throws things, but the behaviors are not any more than typically developing peers.  
Unfortunately, we live in PA.  I, too, would love to meet other families.  We have not been successful in finding any support groups in our area.  How old is your child?  Have you had this diagnosis for a while?

[pinkelman]

Our daughter Maia is now 11 years old.  She can walk short distances unassisted.  It was about 6 years old that she was able to self-mobilate.  Prior to that she used a Rifton walker.  She is mute but hears well.  She understands most of what you are saying to her but communciation on her part is difficult.  She uses a Dynavox talker and rudimentary sign language.  She is mentally delayed so her subject matter is limited but she is alert and engaging.  Her eyesight is good which is fortunate because I am -850 so blind without glasses.  It is difficult for her to interact with other kids because they don't have the patience to wait for her to navigate the talker.  Stephen Hawking would also need time to utilize it so unfortunately kids move on pretty quickly.  We do some activities with other kids like baking or going to the zoo and that helps keep the typically developed kids active and we are able to help with facilitating interactions.
She gets very frustrated at times when she isn't able to be understood so we go slow and it's great when we understand what she is saying and a big smile comes on her face.  We travel at what we call "Maia speed" meaning that we don't go at our pace, rather her pace.  That might mean only one errand per day or one activity.  If we have her go our speed she burns out and the end of the day is exasperating for her and us.  It is difficult but she's super sweet and has a unique personality unto herself like the rest of us.  In that way she is very normal.  Currently education wise she is in a special day class with only 11 other students so the small class size is great and the teacher is very motivating.  That can be iffy because most special education teachers treat the kids like plants.  I'm a teacher myself so I know the score on that one.  So at least the other kids are sympathetic to her and she has a sense of belonging.  Her one on one aide is also very sympathetic and helpful so at least her school environment is good.  She tires easily so she is excused at 1 p.m. every day so she doesn't burn out physically and mentally.  

Joe