I am copying my introductory post here. Time is running out for my daughter if anyone can offer any guidance or thoughts we would be so very grateful.





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.

where i mentioned ataxia, I meant to say hypoxia. (low oxygen saturation in the blood)

I'm sorry for all you have gone through. I do not know where you are? There is a Dr. Bach in New Jersey who is expert in Pulmonary. Maybe you can get in touch with him re: pulmonary issues. Google him or I can post his #. Maybe that would help e-mail or get in touch with his office. It may be some help to you. I'll post his # in a sec.

Info for Dr. John R. Bach
University of Medicine and Dentistry of New Jersey
90 Bergen Street, Newark, New Jersey
phone# 973 972-2802
email bachjr@umdnj.edu
website doctorbach.com
I pray this helps and I will say a prayer for you all.

many thanks for the info. I have heard of him before. I will try to contact him to see what he thinks . thanks again.

I am so sorry for what you and your family must be going through at this time. I can relate to how you must be feeling not knowing whats going on. I was told about 3 weeks ago my son may have Duchenne Muscular Dystrophy The problem is that the specialist won't see him till 2-4 months. Of course my son is not having as many complications as your daughter but as a mother I can only imagine how you most be feeling. I will pray for yor daughter and all your family that you can finally find out what is the real reason for all her complications. The worst part is not knowing.

Lostboy, how is your daughter doing? I want you to know that I have been keeping you all in my prayers.

Lostboy, I am so sorry to read about the many problems your little daughter has endured.I too will keep you and your family in my prayers

we contacted dr bach and travelled to his hospital in newark , new jersey. she has been extubated for almost 6 days and seems to be doing very well. she back to using her old bipap synchrony machine and her oxygyen saturation is very good most of the time. we plan on flying home on wednesday. ella dis is beginning to speak again and is in good spirits.

Lostboy - That is good news. Did they ever determine what she had? In the meantime, I will continue to keep you all in my prayers.