Oh wow that is interesting!! ask whatever you want! May I ask what made them do genetic testing? was she born with any other defects like heart, brain, or kidneys? My daughter has agenesis of the corpus callosum, kidney reflux, had VSD repair, speech delays, learning delays,and some visual problems. Please ask me anything I will anser
Thank you for answering my note!
Ok, my english isn't good but i will try...
She had 2 days after birth swallow problems so we went to the hospital because we already known that she was missing the corpus Callossum, after that, they found that she had kidney reflux ( a very big bladder), she stopt breading for several times. ( epilepsy) and hypotonie ( she moves her arms and head very slow) and she can't eat by her self.. She looks very normal!?
Hoe old is your doughter and what's her name? Does she enjoy life? Can she walk? Can she speak a little? And how it affects your family life? Do you have other children? We have another daughter from almost 3 jears old!
Thank you and we really like to hear from you again!
Hi! your english is very well. My daugher is 6 and her name is lexi. She most definatly enjoys life! She is very happy. She does walk and speak sentences, but it all took time and did not develop as a typical child.She walked when she was 2 1/2 and began talking at 4. She also has hypotonia and other things listed besides epilepsy. I have another child, a son that is 11. He handles it all very well. We have several docotrs appointments throughout the year and physical therapy, speech therapy, and occupational therapy. Do u have therapies like this where u are from? that is going to be the life saver for your child. If not u can tell me what is going on and I can help u with some exercises to do with her. Also does your child have any heart defects? and were u exposed to anything during your pregnancy? and what is her name? Family life is very hectic but u must be there for each other because u will need there support. feel free to talk anytime.
Our daughter Fien is now 4 weeks old, she finally is coming home tomorrow!
After 4 weeks of intensive care! She had a little bit therapy but she is very young
So they don't think its already necessary. She's having à speech therapist. For now its very important
That she will learn to swallow! Did your daughter had any swallow problems? For now she havent any heart defects at all... Only the bladder is à big problem!
She can't pee everything out! We have in à few weeks an appointment with à professor! Hè can tell us more about Fien
And how worse the inv dup del 8p is! They examinate her blood for the second time! My pregnancy went very well... I didn't use any medication, alcohol, drugs or what so ever and i know for sure that i did'nt doing anything wrong... I live a very healthy life! They told us that this can happen, Withouth any reasons! The only thing I can remember that my cyclus after stopping anticonception was around 40 days instead 25 days! ill hope for you that you won't worry about that! Weve steen terrible things in the hospital last weeks with Mothers who are using hard drugs like heroine
(went something wrong) ... And they are having healty children...?! We have also another daughter called Suze, she is almost 3 years old! And where from Holland... Where are you from? The picture, is that from your daughter? She looks very cute!
is it possible to train her arms and head? Because she is so little... We are Searching for THE best therapist there is over here but its difficult because they dont know Munch about these chromosome defects!
Thanks for the talk, its nice to talk with people having the same difficulties!
Yes that is my daughter! and ty! She is amazing. You are able to train the muscles anywhere in the body with physical therapy. My daughter wasnt able to hold her head up until she was almost a yr old. but now she is 6. she walks on her own, talks, and is starting to learn colors, numbers, and letters. There is hope for ur child u just need to work hard at it with her. My daughter did have some swallows problems and her therapists helped with that. lots of luck with everything! again, anything I can help with feel free to ask!
we have a daughter with the same disorder. Her name is Julie, and she is four years old. We live in Oslo, Norway. Julie has a happy upbeat outlook and strong sociability. She can walk, for instance she loves walking up and down stairs. She still struggles with getting up from the floor by herself without holding on to something. She can say several words, but not always in the right context. She eats and drink by herself. She is steadily improving in all aspects of life. Our biggest challenge has been her epilepsy.
She developed whooping cough when she was five weeks old. She was sick for 9 months. We thought her development delay was due to her whooping cough. After several tests she was diagnosed with Inv dup del 8p. Del:8p23.1p23.3 Dup:8p11.23p23.1 when she was 1,5 years old.
When she was 3 years old she started in a kindergarten for children with special needs. Highly qualified staff members takes care of ten children with genetic disorders. This last year she has had great progress. Earlier we had a hard time finding help for Julie, the entry into this kindergarten is the best thing that could have happened to our family. Julie has a sister (6 years old) and a brother (1,5 years old).
Her developmental level today is about 13-15 months. Her progress has picked up some extra speed during this summer. We were encouraged to read about the progress of Lexi! We would very much appreciate sharing experiences with both families. We look forward to hear from you.
So nice to hear that there are multiple families in the same position as we are!
We know now so much more about our daughter and what this could mean to our family. We are still waiting on response of the professors for some answears and what kind of deletion and duplication of the chromosome at our daughter is.
The messages that we read of you are super positive and drag us here through this. It gives an image that there is to live well with the condition of our daughter! She is now finally home after 4 whole intense weeks of the intensive care and that is the most beautiful thing what happened to us! We enjoy her!
We think that the epilepsy on our girl is the havioust thing also. 1 day she stopped breathing for 6 times, i cant get that image out of my head! Fien has also gotten trombosis and we must now yet gave at 2 times a day injections by ourself. Would you guys can give us a indication what physiotherapy exercises there at your daughters be done? Can we already do something with it? From next month the doctors look how they can help Fien at such a best possible way! Unfortunately they don't know much about inv dup del 8 p so we want to know everything! Maby u can help us?
Julie started physiotherapy when she was 7 months old. Contracted joints and weakness of the muscles are common features which comes with this disorder, therefore physiotherapy is important.
Lots of repetition and training by a physiotherapist/kindergarten staff has been necessary for Julie too reach new milestones. She could sit by herself when she was 6 months old (she had to be placed in the position). She never tried to crawl. She started walking when she was 20 months. She was able to pick up things from the floor when she was three years old. After a lot of training she could get up from the floor by herself when she turned four years old.
Until Julie was one year old she was not so alert, often a bit distant. This gave us a lot of worries. Suddenly things started to happen. She has always been interested in other people, although she didn't show to much interest in other children (except her sister) before she was two years old. In the same period she showed no interest in things/toys.
Julie is always in a good mood when she is not to tired. She has always time for hugs and kisses. She has a wonderful personality, and she has melted MANY hearts! She loves music, and is a master in learning melodies. The kindergarten uses music all the time to help motivate Julie to learn skills.
Julie can so far only say a few words, but still she is a good communicator by using facial expressions and vocal noises/sounds.
As we mentioned Julies epilepsy is our biggest concern. We are followed up in a good way by the best hospital in Norway specializing in epilepsy. But still Julie has tried several medicines without getting any effects. She has small seizures every other week. Several seizures over three to four days in a row. She has had three serious seizures which has led to hospitalization. The last one was this weekend, when she had a seizure which lasted for 30 minutes. This time we were not as scared as the first two episodes, but still it is tough to see your child being rushed away by an ambulance. This was the first episode while on medication. We will now change her medication, and hopefully this will not happen again.
Overall we are happy with the system here in Norway. We can find all the help we need for Julie, but you just have to know where to look. This can bee a challenge in the beginning. We have gotten a lot of good advice from the parents of other children with disorders. For instance we received a tip to apply for a electric tandem bike with a special seat for Julie in the front. This bike (paid by the government) was delivered to us last week. Julie enjoys action!
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