Our three year old
Hi Everyone.
My little girl Lily is now three and a half. She's gone from focal( foot/leg) to Gen very fast in the year since diagnosis. In the last three months she had deteriorated steadily. We see severe spasms now attacking and twisting her whole body. From foot arching/calves taught, back arched, arms and recently neck twisting everyday. She falls from standing every now and then One occasion landing us up in emergency as she hit the coffee table splitting her head!), I see her head being turned more often and her shoulders pulling up. The most recent problem ( last 2wks ) is she is blinking in a forced sort of way, rapidly and we've seen the muscled in her forhead forcing them closed when she's trying to watch tv. She says they feel " poorly" and she rubs them all the time. I've captured in clearly on film.
We're due to see our neuro today, armed with our obs and films of spasms. Our main concern is the eyes. Any advice or suggestions, knowlede of treatment would be so very gratefully received. We've neen through anti epileptics which made her mean and way too tired. It was as if someone surned the light off my normally sunny child. Sinemet made her symptoms worse. DYT1 is ok and MRI etc clear. Just waiting genetic tests at the mo.
We feel so low and afraid. I wish I could feel it for her or take it away. So you guys are my best alliance. Thanks so much Marsela
My little girl Lily is now three and a half. She's gone from focal( foot/leg) to Gen very fast in the year since diagnosis. In the last three months she had deteriorated steadily. We see severe spasms now attacking and twisting her whole body. From foot arching/calves taught, back arched, arms and recently neck twisting everyday. She falls from standing every now and then One occasion landing us up in emergency as she hit the coffee table splitting her head!), I see her head being turned more often and her shoulders pulling up. The most recent problem ( last 2wks ) is she is blinking in a forced sort of way, rapidly and we've seen the muscled in her forhead forcing them closed when she's trying to watch tv. She says they feel " poorly" and she rubs them all the time. I've captured in clearly on film.
We're due to see our neuro today, armed with our obs and films of spasms. Our main concern is the eyes. Any advice or suggestions, knowlede of treatment would be so very gratefully received. We've neen through anti epileptics which made her mean and way too tired. It was as if someone surned the light off my normally sunny child. Sinemet made her symptoms worse. DYT1 is ok and MRI etc clear. Just waiting genetic tests at the mo.
We feel so low and afraid. I wish I could feel it for her or take it away. So you guys are my best alliance. Thanks so much Marsela
Replies to This Discussion
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Permalink Reply by chyvonneb on -
Marsela,
I am so very sorry that your little one is going through this! I don't have much info on focal Dystonia (I have spasmodic torticollis and was afflicted at age 35). But, there are tons on this sight, I'm sure, who will be discussing this with you.
The neurologist sounds like a good start as they will hopefully be helpful in giving a proper diagnosis, etc.
I pray for you and your child
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Permalink Reply by Marsela on -
Hi there, So sorry for such a delay in replying we've been moving house...what fun!
Just wanted to thankyou for taking the time to write a message, the support means the world to me. I hope your Dystonia is treating you gently.
Prayers are always gratefully accepted. Take care
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Permalink Reply by ramona on -
In what way did the Sinemet make her symptoms worse? Were the muscles more active and the spasms more intense? Or were there other side effects? This sounds a LOT like Dopa responsive dystonia - is there a chance they started her on too much medication (Sinemet)? Too much of that medication can cause the same type of symptoms that the right dose can alleviate, so it is a fine line to walk with it!
It sounds like you are with a good medical team, if they are doing genetic testing. This must be so very hard for you to see in one so young... Hang in there!
Have you been to the DRDCentral message board? There are a lot of parents there with kids who have dystonia, although most of them end up with dopamine responsive dystonia. Those parents have been through the same wringer you are going through, though, and may be able to help and/or give suggestions. http://www.drdcentral.com/phpBB3/index.php
Blessings
Ramona
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Permalink Reply by Jenn on
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sinemet made me worse also immediately. .. For me it increased my symptoms 5X.. i felt like an elephant was sitting on me and i began screaming 4 help and they gave me valium to calm me. It was given to me in the ER so i was lucky i was in a medical setting at my reaction...
I was told by multiple neuros: normal dopamine levels mean NO reaction to Sinemet
now i read somewhere that sinemet is a dopamine agonist right? increasing it? if increasing dopamine makes me (and Lily) worse ... why not give us the dopamine antagonist? I read somewhere that there are some... I think they are used for psych meds.... Perhaps our problem is too much dopamine..
examples of dopamine depleting medications... http://www.dystonia-foundation.org/pages/dopaminergic_agents_dopami...
I am not on dopamine depleting agents.. I have found some results with artane and chlonazepam but not enuf to warrant the side effects. So I botox some of me and sleep alot.
Even though I personally believe too much dopamine is aiding in my dystonia I have the best luck with alcohol.. which supposedly increases dopamine. (yet my dopa responsive friend cannot stomach it due to her dystonia?)
So my neuro is going with hemi generalized myoclonus dystonia as my diagnosis, but nothing really to treat all of me.
Hope that helps some.
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Permalink Reply by Marsela on
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Hi there Jenn
I just wanted to say sorry for not replying sooner. We've had to move house and I've started back at work after my 2nd baby.
I loved your reply and thought it was really interesting. The idea of too much Dopamine is something that had crossed my mind also.
Our neuro is so lovely si I may talk to him about it. He's been wanting us to try Tegratol again but on lower dose but she became so moody it was awful. I find it painful enough to watch her spasms with out seeing her personality go too. She's normally a very gentle, sunny loopy child not mean and angry.
We're just trying to hold off at the mo. We've been told we have to try all meds as it may come to surgery although she not that bad yet. I guess it's just a case of trying things out. I just wish I could take it all away for her or at least know how it feels.
Well, enough of my moaning, I just wanted to tell you I appreciate your taking the time to write. Dystonia seems to choose pretty amazing people !
Take care
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Permalink Reply by Marsela on
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Dear Ramona
I'm so sorry for taking so long to reply. We've moved house and lifes been a bit loopy.
I want to thank you I appreciate all the input I can get.
Yes the Sinemet seemed to make the spasms which mainly are in her legs take over her whole body, twisting her arms, hands, neck. They were really strong, taking her voice away too. Like you said I wondered about the dose but our Neuro felt it was a pretty low dose. I will chat to him about it though. Yes we're waiting for genetics, our second baby is developing totally differently, in that she's completely where she should be, Lily was delayed in every way.
Thanykyou for the link, I've been there before but parents don't seem to post in the parent section too often, I'll keep looking in though.
I do hope your Dystonia is treating you kindly. Bless you too Marsela
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Permalink Reply by Thorns on -
Marsela;
I don't know if you know there is a group of parents that talk to each other that have children that are affected with dystonia, it may help to get their perspective on how they have dealt with their children having dystonia. The Dystonia Medical Research Foundation of Chicago maybe able to give you some information on how to get in touch with this group of parents, I know they do have symposiums just for children and I sending you this youtube video to show you one of these meetings.
http://www.youtube.com/watch?v=WlD3eA-0J-k
Good Luck with your beautiful little boy, Thorns
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Permalink Reply by sisdailey on -
Hello: I happen to have these 2 people on my list to contact when you need help with children. I hope they are able to give you some advice on how to cope with your problems. Sisdailey@bellsouth.net
Also contact the dystonia medical research foundation would be a great idea.
Carol-Ann Peralta
Merrick, NY
Phone (516) 378-9896
casper16@optonline.net
Kelly Willner
Prescott, WI
Phone (715) 262-3053
kelstar624@aol.com
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Permalink Reply by Thorns on
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Sorry Maresla I mistakenly thought you had a son, beautiful little girl. Thorns
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Permalink Reply by Ellen S on -
Just a wild thought... anybody ever check her Biotin levels?
Low levels of biotin can cause dystonia that is reversed by high doses of this simple vitamin. Many states now require newborn testing of the enzyme that recycles biotin called biotinidase, but it doesn't necessarily tell the story.
I am very biotin deficient, nobody really knows why. My status improved with steroid treatment so it may be related to malabsorption and my autoimmune issues, but nobody seems really to know for sure. My biotinidase levels fall within normal range. I am not totally deficient or I would have much more serious trouble. I do not fall into the ancestoral categories of those who are usually diagnosed with dystonia caused by Biotin deficiency, and although I'm low, I don't think it is the cause of my dystonia.
Not a lot of labs know how to test for Biotin, so be sure when they draw the blood (should you choose to test her) that they immediately protect it from light by wrapping it in foil. Biotin is very quickly degraded by the tiniest amount of light. We had a TON of problems with labs not sending in the samples correctly, thus making us question the results.
Might consider checking other B vitamins as well, just in case its something simple. Might look into Mitochondrial disorder too. There are wonderful people here with Mito you can get info from.
Dystonia is often ruling things out, not looking for ghosts in the closet...
Prayers for you and your precious daughter...
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