Cmt2e ??

[Ally7411]

Rare Cmt 2e?

Litaf gene

I have a large family background of cmt1c They(first cousins) have alot of trouble coping and from a very early but my immediate family are different very late onset we have one by one now almost all of us are on insulin.Born with very ugly feet with deformitys but no real muscle weakness ?I have crossed over little toes claw toe nails hammer toes and pes cavus high arch and absent ankle jerks.curved spine vision loss. I am 49 years old I have 4 children two which had poor sensory skills and struggled through schooling but no real feet disorders until i had my fourth child at aged 42

Summer aged 7 now has toe walked since birth and although she can place her heel flat to floor she just wont walk heel toe much at all,as her achilles is now getting tighter and tighter she can not ride a bike as very restricted in movement she falls alot more lateley as well,she cant sit on the mat at school for very long as her both legs ache.anyhow my genetic neurologist wants to monitor her as diagnosis is hard as I have the litaf gene which will probably confirm a mutation ???we have given alot of blood to neuro science as per the Dr Requests 7 months ago but I feel a little bit of a guinea pig ?? Meanwhile i cant afford physio and special footware / footcare /Podiatrist and summer especially needs to be seen weekly not every 8 to 12 weeks and so do I as my feet have now no feeling underneath this could take years to Diagnose meanwhile we get worse by the day ?with no help.

Vision loss isnt one of the things that go with this cmt but I cant drive anymore its really bad my feet ache in any shoes and pins and needles daily in both feet sometimes hands as well. I lateley seem to drag both feet more before lifting them when walking which is probably why they bleed alot.

My emg nct report came back low amplitude ?

Is it normal for children like summer to have absent ankle jerks? I need this to move alot faster but no other Dr knows anything about it ?

Ive done Alot of Research on this i believe we have cmt2e ?? but Im just interested in getting the Right Treatment and faster I live In Perth

Western Australia