[lostboy]

Hello.

I am here to hopefully learn some things about neurology particularly with regard to the neuromuscular field.

My daughter is 2 and a half years old and is suffering/inflicted with an unknown disease.

aged 14 months, shortly after she first began to walk, she began falling. This quickly progressed to more frequent falls then the inability to break her fall with her arms, the strength in the arms and shoulders deteriorated. after a short time she was seen by a pediatric neurologist and a battery of tests were performed. These included mri or brain and spine, emg and nerve conduction velocity, bloodwork, including CK, and transaminases. , muscle biopsy ,and later genetic testing for sma (smn1 gene).

all result were normal except that denervation was observed in all muscles tested, I think I am correct in saying that was seen via the emg. nerve conduction velocity was seen to be normal.

she was diagnosed oct 07 as having sma although the results of the sma gene testing that followed showed a negative.

in the 9 months that have followed she has deteriorated dramatically . as mentioned the disease first manifested as falling and weakness in the arms and shoulders , this has continued unabated and other muscles have all been severely effected. she could walk unaided til january 2008 but after a nissen and gastrechtomy operation she could no longer walk unaided.

her legs are her strongest and least affected. she could still support her own weight and walk with assisance to stabilise her upper body , this has become progressively more difficult , with instances of her collapsing whilst walking. she now has no movement in her arms, the muscles of the arms and shoulders, and chest seem completely gone. her back is very much affected so basically her whole upper body is very badly atrophies . her neck , she can still support her head some of / much of the time but it varies . she has bulbar involvement , i.e tongue , and her face, particuarly cheeks and below we think are effected . her speech has deteriorated with poor pronunciation , most likely due to her tongue which seems to fasciculate.

right now she is in intensive care due to respiratory complications. she began having serious difficulties approx 6 weeks ago, she had an episode of ataxia , she went white and blue lips. it was thought that there was perhaps a seizure of sorts occuring , currently the opinion is that the seizure symtoms were probably related to elevated co2. since that time she has has a number of episodes of severe difficulty whilst much of the time she is pretty stable although , drops in 02 and elevated co2 have been occuring most days. she has been on nightly bipap since january and has always been very good with that , her stats always being very good. since the latest developments she has been on the bipap during the day also.

earlier this week she had to be intubated and after speaking with the doctors my partner and I decided that a tracheostomy would be sensible.


the operation was not a success , apparently the tracheostomy tube slipped out of place and so she went into theatre again, all seemed well till the next day . it was found that some kind of collapse of the trachea was happening below the tracheostomy tube. it was thought that her difficulties mostly likely were a result of upper airway floppy tissue . i understand the collapse was observed via a camera inserted into trachea.

she is due to go for another longer tracheostomy on monday.

about 8 weeks ago we visited london and saw professor muntoni at great ormond street , a new nerve conduction and emg was conducted. this time slow nerve conduction was observed. the first serious episode mentioned above happened the day before we were due to fly home . as a result of the episode, she was rushed to the evelina childrens hospital pediatric intensive care unit at guys and st thomasj in london.

she stayed there for just over 2 weeks and we took a medical flight home.

whilst there, mri of the spine seemed to show enlargement of the cauda equina , neurologist at evelina , liasing with the team at gosh thought that along with the finding of nerve conduction velocity slowing , conducive to demyleination there was a possibility of chronic inflammatory demyleinating polyneuropathy. she was started on a course of immunoglobulins.


since coming home she has started on immunosuppressant steroids in addition to the immunoglobulins .

the doctors here, are now doubtful as to the disease being cidp though. they are saying that the slowing of the nerve conduction may not be demyleination and they say something about f waves and that pointing away from demyleination, so sma , they think might be the diagnosis again. sma with respiratory distress gene test has been ordered a while back and the results should be back next week.

[NaeNae]

My goodness, I don't even know what to say other than I have been thru dealing with a critically ill child and my heart goes out to you and your partner. You have my thoughts and prayers that they come to a conclusion and she begins to improve.

[weegot5kiz]

You sure have your hands full. My prayers and thoughts go out to you and your dear daughter. hopefully if you follow this link there may be more answers for you

http://neurotalk.psychcentral.com/forum19.html

hang in there

[Koala77]

My heart goes out to you!

I cannot begin to understand the emotional pain you've been through already with your darling daughter.

I'l not even try to offer you any advice. I think a little one like your daughter needs the advice of experts, not some-one like me, but I will offer you my support.

Please let us know if we can help in any way. Here's the link to our Children's Health Forum. Maybe some of our other parents might be able to help you through this difficult time. :
http://neurotalk.psychcentral.com/forum9.html

[Kitty]

Welcome to NeuroTalk. I'm at a loss as to what to say.....you and your daughter have had such a difficult road. I hope the links the others provided you with prove to be of some help to you. My thoughts and prayers are with your family.

[AfterMyNap]

Hello Lostboy, welcome to NeuroTalk.

This horror has to be eating you up inside. I hope you can find some answers and get your tot back on her feet quickly.

[ali12]

Hello and welcome to Neurotalk. I too don't know what to say other than I am so very sorry to hear about what your daughter and you and your family are currently going through My heart goes out to you and I really hope you get the help, diagnosis and treatment you so desperately need soon.
If you ever want anyone to talk to, I am here for you.
Please keep us all updated when you can and give your daughter a from me.
Love and my very best wishes
Alison

[lostboy]

Thankyou all for your kind and thoughtful words.

[Idealist]

Hi Lostboy, and welcome to Neurotalk. I've been recently diagnosed with a neuromuscular condition myself, after living with it for six years. But I haven't had the time yet to read up on the condition and learn what it's all about. I especially feel bad that it's your little girl who is so ill. I know that this must be a lot worse than if you were ill yourself, and my heart goes out to you. I hope very much that you will find some good answers for your daughter, and if I find anything which might help you I'll be more that happy to pass it on. Good luck, Lostboy, and all my best wishes.

[Curls47]

Hi,

You may want to try www.fsma.org for information and support. (families spinal muscular atrophy) The site consists primarily of parents of small children who have sma or sma like symptoms who have questions regarding diagnosis and care. There are also people with sma II - IV who have contributed information and are very supportive. I wish you the very best for your family and child.

Take care,

Susan