Re: Please help me help my daughter

October 6, 2003

YOU NEED TO GET HER TO A DR WHO 'WILL' LISTEN TO YOU! ADMITTINGLY, THERE ARE FEW

OUT THERE!

I WOULD CONTACT THE CLEVELAND CLINIC --DR. BRUCE COHEN

OR MAYO CLINIC--- DR. WHITEMAN

THESE TWO DRS WILL NOT TELL YOU SHE LOOKS FINE AND LEAVE IT AT THAT.

If you'd like more information,please fee free to email me privately @

krystena@...

Please read my son's story. You will find that we had many years of the same

garbage you have been dealing with! I am a persistent person. Thank God, because

my son, depended on ME. I am his mother and he is small and has NO voice in

society yet. I am his advocate. I love him. He is my life. The dr's who

dismissed him did not have to watch him suffer. I was and am determined to get

my children the best medical care they need. I was willing to go to jail doing

so. I find myself to be a much more outgoig person. More out spoken. Although,

less patient... Waiting for someone, anyone, to listen to us, really took it's

toll on me. I am trying to gain faith in dr's once again. I do believe it will

get better as time goes. We have a strong bond with his current metabolic dr and

feel confident his IS now receiving the BEST care he could ever get. Anyway, I

could go on and on.

Here are the links to Caden's story.

Krystena s

Caden 5 yrs GAII

Carsen 17 wks GAII

Warren 8 yrs unaffected

http://www.fodsupport.org/caden.htm

http://www.savebabies.org/familystories/CadenGA2.htm

http://www.metdna.org/caden.shtml (longer and MORE detail )

>

> Date: 2003/10/06 Mon AM 01:09:35 EDT

> To: Mito

> Subject: Please help me help my daughter

>

My name is and my daughter is Paige. She will be 5 years old

next month. Paige was born 3 1/2 months early (at 25.5 weeks)

weighing 1 lb 12 oz.

Paige has many issues and I am desperately trying to figure it all

out. I am part of another list for children with varying disabilities

and it was there that someone told me to look into mitochondrial

symptoms. I cried as I read the info. Very scary because it

describes her.

We are in the begining stages of all of this and I can't seem to get

doctors to listen to me. The main complaint that Paige has is that

her legs get tired. She can't even walk a few blocks to school. Then

on other days she can run for hours. Her neurologist ignored me so I

changed neuros. Her new neurologist said it is because of her

hypotonia but I demaned she run lactic acid and pyruvic acid, which

came back elevated (we see her tomorrow). Her physiatrist (rehab doc)

ordered orthotics for her shoes which have helped a little.

I am here hoping that someone will see this post and be able to point

me in the right direction. Here is what we are dealing with so far...

Epilepsy

Reflux

Hypotonia

Chronic Constipation, treated with Miralax

Hyponeas noted in her sleep study

Severe behavior problems

Anxiety Disorder

Sensory Integration Dysfunction

Autistic like behavior

Continuous twitching and Jerking in sleep

Absent reflexes

Fatigue

Extreme crabbiness if not fed every 90 minutes

Activity induced asthma (coughing for a few minutes)

The biggest problem that we have is that you would never know how

much Paige is suffering by looking at her. If another doc says to

me " she looks good to me " I'm going to scream. Our child is suffering

and I have to help her.

Does anyone have any ideas? Are we on the right track?

Chicago area

Please contact mito-owner with any problems or questions.

October 6, 2003

Thought I would share this article.

Darlene

Below are the excerpts from Dr. Saneto's excellent article in the fall 2002 UMDF newsletter

"In the quest to arrive at a medical diagnosis, many parents and/or caregivers go from physician to physician. I have seen many caregivers labeled (at least suggested in conversations between health care providers) as having a psychiatric disorder (histrionic personality disorder) or worse as deliberately injuring their children (Munchausen by proxy syndrome) for this behavior."

"Most of you know that many physicians do not know about or understand mitochondrial disease. The initial diagnosis has been made only through your hard work and persistence. I congratulate you on how well you have overcome stiff obstacles. However, the same traits that finally resulted in your son, daughter, or loved one to be diagnosed with a mitochondrial cytopathy are the same traits that many emergency room staff and some physicians might consider histrionic or "Munchausen." In other words, you are trying to get attention or seeking medical care that is not needed, usually for your own benefit. Most of us who have taken care of mitochondrial cytopathy patients understand your travels and do not think twice about the persistence needed to adequately care for your child or loved one. However, this heartfelt concern is not widespread in the medical community. So, your understanding and teaching about mitochondrial disease needs to be tempered in knowing that you probably know more about mitochondrial disease than the physician and staff who is treating your son and daughter."

October 6, 2003

stacy,

I do think that you may be on the right path. As many on the list

will tell you this journey will have its frustrations. I too have had

a hard time getting taken seriously because she " looks good " . Dr.

Cohen at the Cleveland Clinic diagnosed my daughter but I do know

that he is very hard to get an appt with. Dr. whiteman may be a

better bet. I wish you luck and any specific concerns you have, we

are hear to help or just listen if you need to cry or complain.

Dawn

October 6, 2003

hey krystena,

how are ur boys doing? i havent seen many posts from you on fod.

Also i was wondering if you could relate to some of zacharys episodes.

I mentioned previously about zachs brown urine and his random bats of lethargy.

He just gets so dang fatigued its hard to let him be a little boy and run and play after school sometimes. I posted about his low then really high sugar spikes when sick etc.

If any of these u deal w/ how do u deal handling the stress of it? we worry so much about him.

Also have you seen any cases of ga2 that live to be older?

I looked on line but just got depressed because there werent that many

sarah mom to zach 3 , ga2 alexis 4 fine forparts@..., UNEXPECTED_DATA_AFTER_ADDRESS@.SYNTAX-ERROR. wrote:

YOU NEED TO GET HER TO A DR WHO 'WILL' LISTEN TO YOU! ADMITTINGLY, THERE ARE FEW OUT THERE! I WOULD CONTACT THE CLEVELAND CLINIC --DR. BRUCE COHENOR MAYO CLINIC--- DR. WHITEMANTHESE TWO DRS WILL NOT TELL YOU SHE LOOKS FINE AND LEAVE IT AT THAT.If you'd like more information,please fee free to email me privately @ krystena@...Please read my son's story. You will find that we had many years of the same garbage you have been dealing with! I am a persistent person. Thank God, because my son, depended on ME. I am his mother and he is small and has NO voice in society yet. I am his advocate. I love him. He is my life. The dr's who dismissed him did not have to watch him suffer. I was and am determined to get my children the best medical care they need. I was willing to go to jail doing so. I find myself to be a much more outgoig

person. More out spoken. Although, less patient... Waiting for someone, anyone, to listen to us, really took it's toll on me. I am trying to gain faith in dr's once again. I do believe it will get better as time goes. We have a strong bond with his current metabolic dr and feel confident his IS now receiving the BEST care he could ever get. Anyway, I could go on and on. Here are the links to Caden's story.Krystena sCaden 5 yrs GAIICarsen 17 wks GAIIWarren 8 yrs unaffectedhttp://www.fodsupport.org/caden.htmhttp://www.savebabies.org/familystories/CadenGA2.htmhttp://www.metdna.org/caden.shtml (longer and MORE detail )> From: "stacyjasonpaige"

> Date: 2003/10/06 Mon AM 01:09:35 EDT> To: Mito > Subject: Please help me help my daughter> > Please contact mito-owner with any problems or questions.

October 6, 2003

Diddo to what Krystena said! Being in the Chicago area, you could go either way to Cleveland or Rochester. We personally see Dr. Whiteman at Mayo and are VERY happy with his knowledge and thoroughness. He is one to err on the side of caution. I have heard great things about Dr. Cohen also. I know Dr. Whiteman is fairly easy to get into for appts., not sure about Dr. Cohen.

I am sorry you have been going through so much in trying to find a diagnosis. The symptoms you are describing do sound like mito issues. I wish you luck in finding answers and please feel free to turn to us anytime. You will always have an ear willing to listen and a heart that feels your pain.

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

Please help me help my daughter> > Please contact mito-owner with any problems or questions.

October 6, 2003

Dear ,

I read your post and I am shocked> your story sounds exactly like mine. I wish it didn't, but I can't live with myself if I don't speak up. My daughter Samya died of mito Dec 10, 2002. My 6 year old Leanna has the same thing. I really don't mean to scare you. I just want you to know you are doing the right thing. Do not give up, and do not take no for an answer. Youy know your child Best and there are too many cocky doctors that don't listen. My story is very long. You can read it on ww.samya.org. Read mylong story, not the short one. You will be shocked. I spend my daughter's entire life looking for the problem, and told she looks "fine", She was never ever fine, just so damn cute adorable and happy she fooled the doctors. We spent our entire life from doctor to doctor. Last year (THis week to be exact) she got a virus, and could not walk 4 days later. After being taken to children's hospital ER was released 3 days later, misdiagnosed came home and deteriorated before my eyes for 3 weeks. On Nov 6 she stopped breathing and on Dec 10 died. My daughter has Sensory integration disorder and all the other symptoms your daugter has, except no seizures and never showed any acidosis in her blood. As she was dying, the only test showing anything was a MRI AND Bam we hit the jackpot of our life sentence abut 10 days before her death.My 6 year old just like her sister has the same symptoms but looks so good no one would believe it. She has a poor prognosis. I am not telling you this to scare you. There are many diseases that look like mito, but are not. I hope to God she does not have mito, but I urge you to search and search like hell. Your gut instinct know best. I live each day with regret that I trusted the doctors so, and was so burned out I started to believe them. My daughte used to have days where she could walk well, and days where she could not and would complain of pain in her legs. No rhyme or reason on any given day. We weret told she was lying because the pain would come and disappear like magic. We thought she was making it up to be lazy. Can you imagine? Best of luck to you and you can e-mail me privately if youlike. God bless you and DO NOT GIVE UP YOUKNOW YOUR CHILD BEST. I am sorry for so many typos,but writing this I feel frustrated all over again for you and me and all the moms like us. Love,

Suhad Haddad

mom to Samya (samya.org) and Leanna also with mito.

October 6, 2003

HI :

Well several people have been where you have been in trying to get the

doctors to understand you and to listen to you.

Keep at it. I have three children. Our daughter is the one affected.

Possible mito. We see a private pediatric neurologist in Milwaukee. He does

his own EEGS, reads them on the spot, he really listens to us. We have taken

our older son to him because of a few issues. He puts our mind at ease that

we didn't have to worry about a few things with . Keep track in a

journal of your daughter's issues. With mito that can be a problem, that the

child looks fine. It doesn't always present itself on the outside. Good

luck and keep us posted.

Nerenhausen

mom to Leah

stacyjasonpaige wrote:

> My name is and my daughter is Paige. She will be 5 years old

> next month. Paige was born 3 1/2 months early (at 25.5 weeks)

> weighing 1 lb 12 oz.

>

> Paige has many issues and I am desperately trying to figure it all

> out. I am part of another list for children with varying disabilities

> and it was there that someone told me to look into mitochondrial

> symptoms. I cried as I read the info. Very scary because it

> describes her.

>

> We are in the begining stages of all of this and I can't seem to get

> doctors to listen to me. The main complaint that Paige has is that

> her legs get tired. She can't even walk a few blocks to school. Then

> on other days she can run for hours. Her neurologist ignored me so I

> changed neuros. Her new neurologist said it is because of her

> hypotonia but I demaned she run lactic acid and pyruvic acid, which

> came back elevated (we see her tomorrow). Her physiatrist (rehab doc)

> ordered orthotics for her shoes which have helped a little.

>

> I am here hoping that someone will see this post and be able to point

> me in the right direction. Here is what we are dealing with so far...

>

> Epilepsy

> Reflux

> Hypotonia

> Chronic Constipation, treated with Miralax

> Hyponeas noted in her sleep study

> Severe behavior problems

> Anxiety Disorder

> Sensory Integration Dysfunction

> Autistic like behavior

> Continuous twitching and Jerking in sleep

> Absent reflexes

> Fatigue

> Extreme crabbiness if not fed every 90 minutes

> Activity induced asthma (coughing for a few minutes)

>

> The biggest problem that we have is that you would never know how

> much Paige is suffering by looking at her. If another doc says to

> me " she looks good to me " I'm going to scream. Our child is suffering

> and I have to help her.

>

> Does anyone have any ideas? Are we on the right track?

>

> Chicago area

>

> Please contact mito-owner with any problems or questions.

>

October 6, 2003

Hi ,

Our family also lives in the Chicago area (Worth)and I work at U.of

C. Our two daughters, lies and , both are diagnosed with

mitochondrial disease. We are currently at Children's Hosptial of

Wisconsin for the girls' round of many clinic visits, but if you'd

like to chat you can call my cell phone . Otherwise

I'll be back at work and resume direct email access on the 10th.

Our daughters share many similar clinical features. A majority of

their care is based at CHW, but their mitochondrial disease

management is shared by Dr. Cohen (Cleveland) and Dr. Whiteman

(Mayo). Between my girls, they have had biopsies in Atlanta,

Cleveland and at Mayo. The specialists represented at those medical

centers, all feel that the defect my girls have is a result of a

functional defect in the membrane wall. Their pathology shows

defects in Complex I, III, IV and ANT function.

A relatively new support group meets monthly at Central DuPage

Hospital. The next meeting is Friday, October 17 at 7:00. Dr.

Rhead from Children's Hospital of Wisconsim will be doing a

presentation on Mitochondrial Disease.

October 6, 2003

Hi and Welcome to the group, my does your story sound like mine. My daughter hailee is 5 and by looking at her you can tell that some thing isnt right but not that she is so sick.

Try getting into see a metabolic genetic dr. That is what we are doing, and keep track of all results ect ect.

Hailee has a lot of the same symptoms as your daughter, she has sensory integergation disorder, seizures, (on 3 meds and a vagul nerve stimulator), two brain disorders, diagnosed with having a stroke (mild) two years ago, we just found this out, she has no working hormones, is on total replacement, has another diagnosis of septo optic dysplasia, closed spina bifida, reflux, g tube feed 50% of time, sever gastric emptying delays, ketosis, severe hypoglycmic, no refluxes, has great upper body strenght but poor lower, she is just starting to have spastic problems with her legs and walking, apnea, fatigue, asthma, We are in and out of the hospital every 2-3 weeks with no answers because she gets sick and they cant seem to find out whats going on.

I hope you get some answers, sorry I went into all of ours, I just wanted you to know that your not alone.

, Hailees mom

Please help me help my daughter

My name is and my daughter is Paige. She will be 5 years old next month. Paige was born 3 1/2 months early (at 25.5 weeks) weighing 1 lb 12 oz. Paige has many issues and I am desperately trying to figure it all out. I am part of another list for children with varying disabilities and it was there that someone told me to look into mitochondrial symptoms. I cried as I read the info. Very scary because it describes her.We are in the begining stages of all of this and I can't seem to get doctors to listen to me. The main complaint that Paige has is that her legs get tired. She can't even walk a few blocks to school. Then on other days she can run for hours. Her neurologist ignored me so I changed neuros. Her new neurologist said it is because of her hypotonia but I demaned she run lactic acid and pyruvic acid, which came back elevated (we see her tomorrow). Her physiatrist (rehab doc) ordered orthotics for her shoes which have helped a little. I am here hoping that someone will see this post and be able to point me in the right direction. Here is what we are dealing with so far...EpilepsyRefluxHypotoniaChronic Constipation, treated with MiralaxHyponeas noted in her sleep studySevere behavior problemsAnxiety DisorderSensory Integration DysfunctionAutistic like behaviorContinuous twitching and Jerking in sleepAbsent reflexesFatigueExtreme crabbiness if not fed every 90 minutesActivity induced asthma (coughing for a few minutes)The biggest problem that we have is that you would never know how much Paige is suffering by looking at her. If another doc says to me "she looks good to me" I'm going to scream. Our child is suffering and I have to help her.Does anyone have any ideas? Are we on the right track?Chicago areaPlease contact mito-owner with any problems or questions.

October 6, 2003

Hi Joanne,

I actually know you from the Our Kids group. It was you, months ago,

that encouraged me to look into mito stuff. Thank you!!! I have been

following how your girls are doing thru Van Verst. Her and I

both have very early preemies.

Paige's neurologist (Dr. Yadava-Elmhurst) met with me today and

suggested that we go see a metabolic specialist. I haven't looked him

up... wanted to see if you knew him first. I think she said that his

name is Dr. Hoganson? I think he is out of Children's. I would love

to go see Dr. Cohen but I don't think our insurance would pay for it

and I heard he wasn't taking any new patients. ARGH!! Do you have

any others in the Chicago area that you would suggest. We actually

live about 30 minutes northwest of Chicago.

Paige's mom

October 6, 2003

, I lived in Chicago for 11 years (well, last six in ton). We saw

good doctors there. I recommend Dr. Barbara Burton at Children's Memorial

Hospital downtown. She is a geneticist and metabolic specialist. In

ton, our pediatrician was Dr. Zieserl at 1000 Central Street. I

highly recommend Barbara--she correctly guessed the diagnosis of my son,

, without any conclusive test results -- just based on her

observation. (She ran scads of blood tests, etc. which were not

conclusive). We ended up going to Dr. Shoffner in Atlanta for a fresh

muscle biopsy because Children's didn't (at that time anyway) perform fresh

biopsies. Dr. Burton has other mito patients too. She can direct you to

other good docors (neurologists etc.)

Good luck, Lori Cutillo and (I and IV)