new member, wanted to introduce

[Guest guest]

Hi- At the risk of being too lengthy- wanted to introduce myself.

My name is Sue and my daughter Zoe just turned two- and from the

time she has been a 6-9 mos. colicky child I have suspected

something was really wrong. Delays in milestones,not walking, muscle

weakness, balance problems, no speech development things that fall

into the gray area of developmental delay. Add on strabismus, low

muscle tone, a dimple at the spine, big head and I was asking

questions. At 15 mos. ped sent us for ultrasound to check for

hydrocephalus. Didnt want to see us again for 4 mos. when that came

back normal. I pursued a nuero eval which was showing abnormal

babinski and dev. delay, cns based. MRIs came back normal of her

brain and spine. Started speech and pt twice weekly at 15 mos. Ear

tubes and strabismus surgery improved things, mild improvement with

vocals and gross motor strength. Then some subtle tremors began. I

hopped a plane from AZ to the Clev. Clinic and met the wonderful Dr.

Cohen who suspected mitochondrial disease. He also found

abnormalities in the past peds labs and the brain MRI that Phoenix

said was normal. Hypoplasia of the cerebellum and brain stem and

some malformation that may or may not cause seizures was reconfirmed

with CC tests. More tests and confirmation for energy metabolism

disorder, suspected mitochondrial pending muscle biopsy in August.

Eye movement disorders confirmed recently, and waiting for brain eeg

results. We seem to be very blessed and lucky as this looks to be

a " mild " case of mito. That said,have been trying to researcha and

learn all I can, while feeling quite alone , just me and my

computer. Husband is great support , but doesnt quite live my life

24/7 ( you have to be there to get it) and my other mom friends dont

seem to get it either, Read your posts and feel compelled to

understand, even though we seem to be rather fortunate.Zoe is mobile

with her walker and a happy kid.I am still learning and feel like a

hopefully mild mitochondrial may be more complicated than I first

thought.

That said, Zoe, with no additional stress, has suddenly been

sleeping a lot more over the last few days. 12 hours at night and

then 2 hours after awaking napping again for 2 hours and napping a

few hours later for 3, in other words suddenly going from 14 hours

sleep a day to 17. She seems warm upon waking but more so on the top

of her head and cant seem to document a fever. Fluid intake okay,

meals inconsistent as ever. A few falls, more shakiness. Anyway Any

experienced thoughts????

Its nice to feel something in common- thanks.

[Guest guest]

Hi Sue and Zoe, my name is and Miss Hailee is my daughter, We too live in sunny hot AZ.....

Welcome to the group you will get lots of info and support... Dont know what to tell you about the sleeping, my little one does that too, usually its the start of a crisis for us....

Welcome again.

and Princess Hailee

[Guest guest]

First of all welcome to the group. I saw you have Dr. Cohen, that is who we take our 2 year old daughter (Grace) to also. Dr. Cohen is wonderfull, be glad you have him as a resource.

For the sleeping issues, I can relate. Grace is physically doing better than she ever has, but now her normal bedtime is 4pm, she is waking at 7:30 to 8 am. I have noticed that sometimes when she is having a growth spurt she sleeps alot. Also if your daughter has had any type of stress, illness, heat exaustion, not eating well, this can bring on a crash or as Dr.Cohen calls it a "brown out". With Grace her last one started as extreme clumbsiness (she walks well otherwise) she was very crabby, and slept alot. It eventually turned into a two month long regression with her gross motor, speech (the very little she has), digestion, appetite, and overall not doing well. She did, however, begin to come back slowly and all of her skills have regained to almost normal for her. We are worried that this new onset of sleep may be the start of another episode, she did have a cold about three weeks ago. My advice for you is to call Dr.Cohen. He advised us to call him if Grace starts to get really clumbsy, because this is usually the first sign of a problem. I really don't know if there is anything they can do to stop it once they start, but last time he did a MRI just to make sure there was no permanant damage done. I really am just guessing on possibilities, hopefully it is nothing to worry about.

Best wishes on your little girl. Welcome to the group.

[Guest guest]

Sue,

I'm glad you finally got your posts to show up and you are getting advice from

the experts here.

I Hope Zoe gets to feeling better soon.

Kim - Mom to and Lindsey - 2 1/2 Partial Complex I

[Guest guest]

Hi Sue my name is Jennie and i am a mom with a 2 year old with leighs disease.I understand how frustrating it can be. Logan has severe developmental delays, he just turned 2 and we went to the ddc ay KU for testing he ranges at a 12 month old. he just started walking at 15 months and had a wrap around walker. The more you study about mito diseases the more you learn and the more questions you ask. I know my husband doesn't understand all the things that go on at our house because he is gone to work at leat 10 hrs a day. You have come to the right place. I have met some of the neatest people and the strongest people. you will make alot of new friends. I am sorry to hear about your baby, but you are at theright place if you ever need to vent or are up late at night feel free to email me at jenniecarter@....

also the tremors you might have a neuro do an eeg to see if they are mild seizures. That is part of Logan's mito. again welcome and don't be afraid to give me an email.

lots of luck God Bless Jensewnstitchnsue wrote:

Hi- At the risk of being too lengthy- wanted to introduce myself. My name is Sue and my daughter Zoe just turned two- and from the time she has been a 6-9 mos. colicky child I have suspected something was really wrong. Delays in milestones,not walking, muscle weakness, balance problems, no speech development things that fall into the gray area of developmental delay. Add on strabismus, low muscle tone, a dimple at the spine, big head and I was asking questions. At 15 mos. ped sent us for ultrasound to check for hydrocephalus. Didnt want to see us again for 4 mos. when that came back normal. I pursued a nuero eval which was showing abnormal babinski and dev. delay, cns based. MRIs came back normal of her brain and spine. Started speech and pt twice weekly at 15 mos. Ear tubes and strabismus surgery improved things, mild

improvement with vocals and gross motor strength. Then some subtle tremors began. I hopped a plane from AZ to the Clev. Clinic and met the wonderful Dr. Cohen who suspected mitochondrial disease. He also found abnormalities in the past peds labs and the brain MRI that Phoenix said was normal. Hypoplasia of the cerebellum and brain stem and some malformation that may or may not cause seizures was reconfirmed with CC tests. More tests and confirmation for energy metabolism disorder, suspected mitochondrial pending muscle biopsy in August. Eye movement disorders confirmed recently, and waiting for brain eeg results. We seem to be very blessed and lucky as this looks to be a " mild" case of mito. That said,have been trying to researcha and learn all I can, while feeling quite alone , just me and my computer. Husband is great support , but doesnt quite live my life 24/7 ( you have to be there to get it) and my other mom

friends dont seem to get it either, Read your posts and feel compelled to understand, even though we seem to be rather fortunate.Zoe is mobile with her walker and a happy kid.I am still learning and feel like a hopefully mild mitochondrial may be more complicated than I first thought. That said, Zoe, with no additional stress, has suddenly been sleeping a lot more over the last few days. 12 hours at night and then 2 hours after awaking napping again for 2 hours and napping a few hours later for 3, in other words suddenly going from 14 hours sleep a day to 17. She seems warm upon waking but more so on the top of her head and cant seem to document a fever. Fluid intake okay, meals inconsistent as ever. A few falls, more shakiness. Anyway Any experienced thoughts????Its nice to feel something in common- thanks.Please contact mito-owner with any problems or

questions.