My daughter was born full term (41 weeks) almost 9 lbs. Normal pregnancy- natural and smooth vaginal birth- there were no birthing complications, no explanation for her symptoms, she did not experience any lack of oxygen or injuries before, during or after birth. She appeared healthy at birth and we were sent home withing 24 hrs. She appeared healthy for the first 9 months, but we began to be concerned that she was slow to meet mile stones, but nothing obviously "wrong." She began having seizures at age 10 months. She was diagnosed with an idiopathic seizure disorder, global developmental delay/hypotonia (low muscle tone) excessive drooling/ataxia and unsteady gait/severe mental retardation/microcephaly... all by age 2. She is 20 now. She's always been a very outgoing happy child with a great sense of humor and love of people. She also has sleep disturbance and behaviors/mood swings at times, but recent EEGs have been giving us a little more info on that and hopefully help is around the corner. At age 7 she was given a diagnosis of Cerebral Palsy. Does ANY or all of this sound like your kid? Please let me know and let's talk. I have never believed my kid had CP.... I have always felt there is more to it than that. I always strongly believed a genetic diagnosis was the answer. I have learned that many children with actual genetic syndromes are mistaken for having various types of CP.
If your pregnancy, birthing, child's symptoms sound similar to my experience with my child, please respond and share your thoughts. Thank you!!!
CP or misdiagnosis? Genetic? Could this also be your child?
Moderators: Lori-ann, Tmagic650
5 posts
• Page 1 of 1
CP or misdiagnosis? Genetic? Could this also be your child?
by RainDance:) » Tue Jan 11, 2011 3:23 pm
- RainDance:)
- Posts: 4
- Joined: Tue Jan 11, 2011 2:58 pm
Re: CP or misdiagnosis? Genetic? Could this also be your chi
by LeaciesMum » Mon Jan 24, 2011 5:24 pm
Hi there, as I read your post I was thinking, wow this is just like my daughter (she's 4.5 now) until it got to the part about seizures, GDD and excessive drooling.
My pregnancy was normal, she was 2 weeks late, labour was normal although very fast (but so were some of my other children) and I had no idea there was anything wrong until she wasn't reaching the same milestones at similar ages to my other children. But they were very early with their milestones so I thought maybe she was just text book average. Even the maternal child health nurse didn't think anything wrong. But at 9mths and she still couldn't sit alone, crawl or cruise furniture I started noticing her legs were stiff to 'bicycle' or spread for nappy changes and her hands stayed fisted. I mentioned these symptoms to my MCHN and she still saw nothing wrong and told me if I had concerns to see my GP about it.
When I got home I googled 'stiff legs' and CP came up over and over again, when I read the symptoms I knew this was what my daughter had, and my GP felt the same way. A paediatrician gave the official diagnosis of CP but said it was only mild, at worst she'd need a walking frame, at best she'd have a clumsy walk. Leacie was about 14mths old at the time.
We then got into the public health system here in Melbourne and the paediatrician suggested we have an MRI done to see where the problem lay. I thought, what's done is done why put her under a general anaesthetic just to see where the problem was. But eventually they convinced us it would be helpful. By time Leacie had her MRI she was 2 and she was upgraded to spastic quad.
Surprisingly the MRI results came back normal, this opened a whole new can of worms and the paediatrician then said there could be some other cause for Leacie's disability. She then had back xrays, numerous blood tests, urine tests, lumbar punctures and even checking her retina's for Sjorgren Larson syndrome. Some of the results took 6 months to come back, we were going out of our mind with worry as we knew many of the disorders they were looking for were life limiting.
All these tests came back negative. We have even participated in doing mouth swabs for genetic testing. So all the doctors have labled Aleacia their little 'enigma'. Her CP diagnosis still stands, although all her doctors and therapists say she isn't 'typical' CP.
I just thank the Lord that nothing has degenerated, although she gets stiffer when she grows that's just part and parcel. Her speech is perfect, if only a bit quiet, she has no drooling or swallowing issues. Now at 4.5 she can bunny hop crawl around the house, very slowly cruise the furniture, use a Hart walker and is just learning to walk short distances in a reverse walker, she uses her tone to get herself up on the lounge, she can draw, colour in and is even learning to write letters, which absolutely amazes her OT because of how affected Leacie's hands are.
She goes to mainstream kinder this year, 12 hours a week and will have an aide in the room, but I am still terrified as I have been the only one to care for her for the past 4.5 years. She is still in nappies and I also worry she'll get teased for this. But we are so lucky that Leacie is a bubbly, outgoing girl who adapts well, I think it will just be me that wont cope, lol.
As for her diagnosis, I still don't know what to think, I still trawl the internet looking for other diagnosis' and when I hear of another disorder I'll look it up to see what the symptoms are. I know CP is just an umbrella term and that 9% of kids diagnosed have normal MRI's, but it still would be nice to find an answer as to why.
My pregnancy was normal, she was 2 weeks late, labour was normal although very fast (but so were some of my other children) and I had no idea there was anything wrong until she wasn't reaching the same milestones at similar ages to my other children. But they were very early with their milestones so I thought maybe she was just text book average. Even the maternal child health nurse didn't think anything wrong. But at 9mths and she still couldn't sit alone, crawl or cruise furniture I started noticing her legs were stiff to 'bicycle' or spread for nappy changes and her hands stayed fisted. I mentioned these symptoms to my MCHN and she still saw nothing wrong and told me if I had concerns to see my GP about it.
When I got home I googled 'stiff legs' and CP came up over and over again, when I read the symptoms I knew this was what my daughter had, and my GP felt the same way. A paediatrician gave the official diagnosis of CP but said it was only mild, at worst she'd need a walking frame, at best she'd have a clumsy walk. Leacie was about 14mths old at the time.
We then got into the public health system here in Melbourne and the paediatrician suggested we have an MRI done to see where the problem lay. I thought, what's done is done why put her under a general anaesthetic just to see where the problem was. But eventually they convinced us it would be helpful. By time Leacie had her MRI she was 2 and she was upgraded to spastic quad.
Surprisingly the MRI results came back normal, this opened a whole new can of worms and the paediatrician then said there could be some other cause for Leacie's disability. She then had back xrays, numerous blood tests, urine tests, lumbar punctures and even checking her retina's for Sjorgren Larson syndrome. Some of the results took 6 months to come back, we were going out of our mind with worry as we knew many of the disorders they were looking for were life limiting.
All these tests came back negative. We have even participated in doing mouth swabs for genetic testing. So all the doctors have labled Aleacia their little 'enigma'. Her CP diagnosis still stands, although all her doctors and therapists say she isn't 'typical' CP.
I just thank the Lord that nothing has degenerated, although she gets stiffer when she grows that's just part and parcel. Her speech is perfect, if only a bit quiet, she has no drooling or swallowing issues. Now at 4.5 she can bunny hop crawl around the house, very slowly cruise the furniture, use a Hart walker and is just learning to walk short distances in a reverse walker, she uses her tone to get herself up on the lounge, she can draw, colour in and is even learning to write letters, which absolutely amazes her OT because of how affected Leacie's hands are.
She goes to mainstream kinder this year, 12 hours a week and will have an aide in the room, but I am still terrified as I have been the only one to care for her for the past 4.5 years. She is still in nappies and I also worry she'll get teased for this. But we are so lucky that Leacie is a bubbly, outgoing girl who adapts well, I think it will just be me that wont cope, lol.
As for her diagnosis, I still don't know what to think, I still trawl the internet looking for other diagnosis' and when I hear of another disorder I'll look it up to see what the symptoms are. I know CP is just an umbrella term and that 9% of kids diagnosed have normal MRI's, but it still would be nice to find an answer as to why.
* A Strong Mind Can Compensate For A Weak Body *
-
LeaciesMum - Posts: 35
- Joined: Sun Feb 28, 2010 3:30 am
- Location: Melbourne, Australia
Re: CP or misdiagnosis? Genetic? Could this also be your chi
by RainDance:) » Tue Jan 25, 2011 4:18 pm
Thank you for your reply. Your daughter sounds like she is doing remarkably well developmentally. I am curious as to what genetic testing your daughter has had to date? Can I ask if she's had a genetic test for "Carbohydrate Deficient Transferrin, serum" or "glycosylation status of transferrin (Tf)"...same test actually, just worded differently. I would be curious to know.
- RainDance:)
- Posts: 4
- Joined: Tue Jan 11, 2011 2:58 pm
Re: CP or misdiagnosis? Genetic? Could this also be your chi
by ncm » Thu Jun 09, 2011 5:38 pm
just a suggestion have you came across dystonia? its often misdiagnosed as CP and it is a genetic disorder
- ncm
- Posts: 3
- Joined: Fri Jun 03, 2011 2:25 pm
Re: CP or misdiagnosis? Genetic? Could this also be your chi
by rachana » Tue Aug 30, 2011 5:34 am
Hey guys I am new to this post. So please give me some useful information about this so even I can be the part of this post.
Thanks in advance
Regards,
Thanks in advance
Regards,
- rachana
- Posts: 1
- Joined: Tue Aug 30, 2011 5:29 am
- Location: Singapore
5 posts
• Page 1 of 1
Return to Parents of children with Cerebral Palsy
Who is online
Users browsing this forum: No registered users and 0 guests
