Thank you for the add - a new journey for my 13 year old. I'm just learning

My 13 year old daughter has an eventful history already, but thankfully everything has been treatable and/or manageable. Since the day she was born I've been learning and learning - always some new blip in her life. Now I found that I am heading down another road in which I am only beginning to learn.

Since her first year we have done a lot of therapies (PT, OT, Speech, Special Ed), constant academic struggles, heart surgery for ASD, eye surgery for strabismus, a few broken bones, sprains and stitches (now I have a better idea of why) and genetics testing 2x - and I'm sure for a 3rd very soon. The second round of genetics testing gave us a diagnosis of micro deletion in the 15th chromosome. Now I believe we will be looking at Chromosome 17 (maybe others?) since doctors believe she has CMT. EMG & NCV testing now being scheduled to confirm the diagnosis, but the symptoms are there. Here we go!!!!

My daughter has some manageable sensory issues - only thing we aren't managing well is any kind of pain. Wondering how the EMG will go. I realize everyones journey is different. Any response is appreciated.

Thank you <3

Shannon

Hi Shannon,

I noticed that noone has replied to you. So here goes.. Im so sorry that your daughter has had such a rocky time of it. Its must be hard for you too to watch her struggle. I want to compliment you on how well you have fought her corner she is so lucky to have you at her back. Have you had the EMG yet? Im not sure what the NCV is.

Im 54 and a mum of three and have only just formally been diagnosed with CMT so Im reeling a bit myself. I diagnosed myself several years ago through the internet (im a bit of an academic) as having either CMT or CIDP, an autoimmune disease. Ive always thought it was CMT, though my neurologist favoured CIDP and I actually had plasma treatment for it. When this didnt work it was a relief when one of the gene tests came back positive and confirmed that I have CMT but its still not sure whether its type one or two.

Im sorry that your girl has pain. Its increasing for me and I take a medication called Pregabalin (I think its also called Lyrica) for it. I take as little as I can get away with: up to 150 MG per day.

Wishing you well.

Susan x


Hi Susan,

Thank you for your reply. My daughter is actually going for the EMG test today. I believe NCV (Nerve Conduction Velocity) is part of the EMG? I'm not sure how much information we will gain from this test (other than a more reliable diagnosis), but have scheduled an appointment with her geneticist - and can't see him until the end of March. I just want as much information about her diagnosis so we can stay ahead of it. I have stopped researching - partly because I don't have enough hours in my day and partly because it is doing more harm than good (for me). Her only pain (at the moment) is after physical therapy on her sprained foot. The sprain shouldn't have been what alerted us to CMT - since there have been other signs that should've given her doctors a clue. I guess being a rare disease her symptoms were overlooked. We haven't seen the geneticist in several years since we really didn't need his help - or so I thought.

I wish you all the best - and for your daughters as I understand this is a genetic disease. It is my belief that my daughter has CMV by "de novo" because she already has a "de novo" deletion. De novo meaning "new" - and that her father and I did not have the gene to pass on to her. So I guess you would call this a genetic mutation? When we meet our geneticist we will learn more, I'm sure.

Thanks again for reaching out.

Shannon

Susan said:

Hi Shannon,

I noticed that noone has replied to you. So here goes.. Im so sorry that your daughter has had such a rocky time of it. Its must be hard for you too to watch her struggle. I want to compliment you on how well you have fought her corner she is so lucky to have you at her back. Have you had the EMG yet? Im not sure what the NCV is.

Im 54 and a mum of three and have only just formally been diagnosed with CMT so Im reeling a bit myself. I diagnosed myself several years ago through the internet (im a bit of an academic) as having either CMT or CIDP, an autoimmune disease. Ive always thought it was CMT, though my neurologist favoured CIDP and I actually had plasma treatment for it. When this didnt work it was a relief when one of the gene tests came back positive and confirmed that I have CMT but its still not sure whether its type one or two.

Im sorry that your girl has pain. Its increasing for me and I take a medication called Pregabalin (I think its also called Lyrica) for it. I take as little as I can get away with: up to 150 MG per day.

Wishing you well.

Susan x