New to Mito and the group

[Guest guest]

Hi,

My name is Tammy and I am the mom of two wonderful children recently

diagnosed with Mitochondrial Disease. I have been reading posts for

about two weeks and can not tell you how helpful it has been. We are

in southwest Michigan and as far as we know are the only family in

our area with Mito. Most of the doctors here had never even heard of

it. Life has been hard, lonely, and one big medical fight.

Madelaine is almost seven and has struggled with Autistic Spectrum

disorder, feeding problems, fine and gross motor delays, and poor

tolerance of stress. In the fall our precious daughter began a quick

trip of developmental regression, she has alway been extremely smart

and was reading by 4years...the whole nine yards. By October she

couldn't read, didn't know here letters, could no longer do skills

she had done for years, and her memory just wasn't " working. "

is four and has struggled since the day he was born, actually

since we knew I was pregnant with him. Both kids are the product of

extremely difficult pregnancies- much worse than Madelaine.

is autistic, cyclical vomitting, developmental delay,fine and

gross motor delay, failure to thrive (now not an issue, just very

short), severe speech delay, infections to numerous to count,

hypoglycemia, hypotonia, feeding problem-primarily drinking (causing

dehydration) and smooth foods and very poor tolerance of

stress/illness. was diagnosed first, by Dr. Kelley in July

(which started a major fight with our pediatrician because we had

contacted him ourself.) We were then refered to Cleveland where the

diagnosis of was confirmed and to our shock Madelaine was

diagnosed in October. The kids are cared for by Dr. Natowicz-who I

might add is wonderful.

I was a pediatric oncology/hematology nurse until arrived and

to be completely honest I thought the run around many of these

parents experienced prior to the diagnosis was of their own creation--

boy was I WRONG!

Both kids were started on Mito " cocktail " in October which a pharmacy

is able to compound for us and insurance pays for which we are very

thankful. Madelaine responded quickly and extremely well and she

became a different little girl--for the better. However, the last

few weeks symptoms are returning--developmental regression

primarily. Have any of you had experience with this? has not

responded as positively and my last conversation with his Dr was that

he fears he is not responding? Have any of you had experience with

that? My opinion is that he is responding some because is in not

going downhill at the speed he was prior to starting Cocktail.

Again thank you all it helps so much knowing we are not fighting this

alone.

Tammy

[Guest guest]

Tammy,

Welcome to this group and the wonderful Wacky world of Mito. I can remember still the day that after 6 years of feeling very alone we found UMDF and in turn this support group! The people here are amazing as I am sure you have already seen. Feel free to rant, scream, cry, complain and just need a hug as well as share your joys and happy times here. No one is gonna be upset! We all have them and want to share with people that fully understand. It is a mazing how many posts I can relate to. I am sure you are experiencing the same thing. Well, welcome to the group, and hugs to you and your kids. Mito kids are great aren't they?!

HUGS!

O and crew - Kira,, and Krisalynn Mitochondrial Myopathy-MIDS Maternally Inherited Dysautonomia- NVD ( Nuro Vascular Dystrophy) and dad Enrique

Visit our web page: WWW. caringbridge.org/ca/mitooggo

Help support my sister in her new business at : Come and see what's NEW! http://www.youravon.com/elleenmiller Your AVON representative (Sign in passcode: ElleensAVON if you are signing in for the first time :-)

When the door of happiness closes, another opens, but often times we spend so much time looking at the closed door, we don't see the open door. Look for the open doors!

[Guest guest]

By October she couldn't read, didn't know here letters, could no longer do skills she had done for years, and her memory just wasn't "working."

Hi Tammy...

this sounds very much like the beginning of symptoms for . In fact, if you email me off-list I can forward the long version of our story (the short version is on my website below under 'meet my family'). We didn't have any health issues until after he started regressing and then it all went downhill from there.

Madelaine responded quickly and extremely well and she became a different little girl--for the better. However, the last few weeks symptoms are returning--developmental regression primarily. Have any of you had experience with this? has not responded as positively and my last conversation with his Dr was that he fears he is not responding? Have any of you had experience with that? My opinion is that he is responding some because is in not going downhill at the speed he was prior to starting Cocktail.

didn't really respond either...in fact I would say it had an adverse effect on him. For him, it was like if we gave too much he was out of control and nervous and too hyped up and if we gave him less then nothing happened at all. Eventually we just stopped giving the CoQ to him...he did have good results with Carnitor for his autonomic issues and gastro issues.

welcome to the group, but so very sorry you have to be here!

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com

[Guest guest]

Tammy,

First I would like to welcome you to this group, they are absolutely wonderful, however, I am sorry to hear you have to ride this rollercoaster. Hang on, because it is going to be the wildest ride of your life.

My granddaughter, Audrey, 31 mos., has been dx as unspecified mito by Dr. Cohen in January 2003. She has had many problems since she was a newborn, poor eater, very floppy, didn't meet her milestones, seizures, severe reflux, G-tube feed, unable to sit, walk, roll over, talk, ear tubes, fluctuating vision, many infections, stroke like episodes, but the most beautiful blue eyes and a smile that will melt your heart.

Last January my daughter and her husband went to Cleveland with Audrey to see Dr. Cohen. He confirmed she had mito but didn't know what kind as her mitochodria were different from he had ever seen before. Anyway, he started her on the cocktail and within 2-3 days she was having the worst seizures she had ever had and we almost lost her. Of course we had to stop the cocktail immediately. Now, she is only on meds for her seizures, meds for her reflux, and Motrin and Tylenol as needed. As everyone on this list knows, she has had a very bad winter but for the past few days she is doing great. Many smiles and even a weak giggle now and then. We have learned to enjoy the today and not think too far in the future.

I hope this group of wonderful people can help to comfort you in this journey you are embarking upon. They are great for whatever reason you might need. If you need to blow off steam or pick their brains for new answers for some answers, they are terrific. Hopefully you have a good supportive family as well.

Again, welcome,

Kathy, grandma to Audrey, 31 mos

[Guest guest]

Hi Tammy, I would like to say a big West Michigan welcome to you! I live up in GR, where are you located? I am also curious as to which pharmacy you use? Are your kids on straight medicaid or MI-Child?

I have met a few other families in the area, mostly right around here. There is another mom on this list from Niles, but she is in the process of moving to Wis. There is a support group on the east side of the state, but I have yet to get in touch with the woman who organizes it. The info should be availabele at www.umdf.org under chapter listings. It is nice to 'meet' another family from Mi!

I have a 7 yr old daughter with severe CNS dysfunction due to an unknown mitochondrial cytopathy. She presented with low tone at 7 mos, but we were told she had suffered some benign insult to her CNS and she should just catch up. After sher passed 2 and had not met any milestones, her neuro began testing for mito. the initial results of her muscle/skin bx were inconclusive but indicated a nonspecific abnormality, as have most of her labs and other tests. We waited over a year, only to hear that not enough of her sample was left to do the further DNA testing. Her neuro felt she has something very rare or unknown. He just left his practice, so we are waiting to get into the other local neuros. I am really curious about what they have to say. Who is your kids' neuro?

Sorry for all the ?'s, just my nature! Please feel free to ask anything and you can contact me privatly if you wish!

e, Chelsea's mom(nonspecific mito)

[Guest guest]

Welcome. My son Wyatt,5, is on the mito cocktail and has not

responded to it. I do not see an improvement but I also do not see

him regressing. It is just keeping him status quo. I think the only

way we would know for sure if it is doing anything is by taking him

off of it for a couple of months and see what happens. We discussed

doing that at his last appointment and have decided not to. I'd

rather give him the cocktail in case it is doing something than not

give him anything at all, if that makes sense.

Wyatt is non-verbal, non-ambulatory, physical development is about a

3-5 month old, poor vision, can not hear below normal conversation

levels, g-tube, seizures, reflux and waiting on results for celiac

disease and primary immune deficiency - IGG subclass. I think that

is it.

Geri-Anne and Wyatt, Complex I

> Hi,

>

> My name is Tammy and I am the mom of two wonderful children

recently

> diagnosed with Mitochondrial Disease. I have been reading posts

for

> about two weeks and can not tell you how helpful it has been. We

are

> in southwest Michigan and as far as we know are the only family in

> our area with Mito. Most of the doctors here had never even heard

of

> it. Life has been hard, lonely, and one big medical fight.

>

> Madelaine is almost seven and has struggled with Autistic Spectrum

> disorder, feeding problems, fine and gross motor delays, and poor

> tolerance of stress. In the fall our precious daughter began a

quick

> trip of developmental regression, she has alway been extremely

smart

> and was reading by 4years...the whole nine yards. By October she

> couldn't read, didn't know here letters, could no longer do skills

> she had done for years, and her memory just wasn't " working. "

>

> is four and has struggled since the day he was born,

actually

> since we knew I was pregnant with him. Both kids are the product

of

> extremely difficult pregnancies- much worse than Madelaine.

> is autistic, cyclical vomitting, developmental delay,fine

and

> gross motor delay, failure to thrive (now not an issue, just very

> short), severe speech delay, infections to numerous to count,

> hypoglycemia, hypotonia, feeding problem-primarily drinking

(causing

> dehydration) and smooth foods and very poor tolerance of

> stress/illness. was diagnosed first, by Dr. Kelley in July

> (which started a major fight with our pediatrician because we had

> contacted him ourself.) We were then refered to Cleveland where

the

> diagnosis of was confirmed and to our shock Madelaine was

> diagnosed in October. The kids are cared for by Dr. Natowicz-who I

> might add is wonderful.

>

> I was a pediatric oncology/hematology nurse until arrived

and

> to be completely honest I thought the run around many of these

> parents experienced prior to the diagnosis was of their own

creation--

> boy was I WRONG!

>

> Both kids were started on Mito " cocktail " in October which a

pharmacy

> is able to compound for us and insurance pays for which we are

very

> thankful. Madelaine responded quickly and extremely well and she

> became a different little girl--for the better. However, the last

> few weeks symptoms are returning--developmental regression

> primarily. Have any of you had experience with this? has

not

> responded as positively and my last conversation with his Dr was

that

> he fears he is not responding? Have any of you had experience

with

> that? My opinion is that he is responding some because is in not

> going downhill at the speed he was prior to starting Cocktail.

>

> Again thank you all it helps so much knowing we are not fighting

this

> alone.

>

> Tammy