Barshop/Boles, etc.

[Guest guest]

I totally agree with everything said here about Dr Boles. Although we have never met him, only corresponded by e-mail, (we live in New-Zealand) he has been a godsend to my family and his advice has saved the life of my youngest child.

Dr Boles is truly a wonderful compassionate man as has already been said.

.

Re: Barshop/Boles, etc.

Lori, We have seen DR Rick Boles since my kids were infants. He is a wonderful man!!!! Very compassionate and I love his staff. his nurse amy the genetic counselor and Judy the social worker. They truly are like family to us and my kids refer to Rick as Uncle Rick. He is extremely intelligent and sometimes he has a hard time talking to parents in lay terms but if you tell him you don't understand what he is saying he will break it down for you. We love the man! If you want to E-mail me off list and ask more private questions I will try to help you out. He does have a wait to get in to him, but nothing like Cohen for sure. The thing I love about Rick is that he will tell you up front if he doesn't know. And believe me if he doesn't know, it isn't known by anyone yet. He is actively researching dysautonomia and the connection to the Mito right now. He is the one who found MIDS Maternally Inherited Dysautonomia. It is frustrating when they can't tell you a prognosis, but they truly can't with a lot of MITO so don't get disheartened. If you need numbers to call let me know.HUGS! O and crew - Kira,, and Krisalynn Mitochondrial Myopathy-MIDS Maternally Inherited Dysautonomia- NVD ( Nuro Vascular Dystrophy) and dad EnriqueVisit our web page: WWW. caringbridge.org/ca/mitooggoHelp 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 :-)Please contact mito-owner with any problems or questions.

[Guest guest]

Lori,

We have seen DR Rick Boles since my kids were infants. He is a wonderful man!!!! Very compassionate and I love his staff. his nurse amy the genetic counselor and Judy the social worker. They truly are like family to us and my kids refer to Rick as Uncle Rick. He is extremely intelligent and sometimes he has a hard time talking to parents in lay terms but if you tell him you don't understand what he is saying he will break it down for you. We love the man! If you want to E-mail me off list and ask more private questions I will try to help you out. He does have a wait to get in to him, but nothing like Cohen for sure. The thing I love about Rick is that he will tell you up front if he doesn't know. And believe me if he doesn't know, it isn't known by anyone yet. He is actively researching dysautonomia and the connection to the Mito right now. He is the one who found MIDS Maternally Inherited Dysautonomia. It is frustrating when they can't tell you a prognosis, but they truly can't with a lot of MITO so don't get disheartened. If you need numbers to call let me know.

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 :-)

[Guest guest]

Hi, We're back from San Diego--saw Dr. Barshop yesterday. To be honest, I'm tired and disappointed. He's the third doctor to basically give us no information about 's condition and prognosis. He appeared surprised by 's condition. He said kids with dysmorphic features (where the mito disease started in utereo) usually present with more metabolic symptoms, i.e. they are sicker than is. is pretty stable--probably less sickly than he was as an early infant. Yet, his development is static--he gets older but remains a 1 year old at best mentally. Barshop couldn't predict anything about lifespan. And, he didn't have any info about treatments either---the usual, PT, vitamins.

I hate this disease! I hate the not knowing, the not having a cure, not having a definite treatment, everything! I don't know how to go on with a child who does not get better, but yet, does not get worse either. Will he be this way forever? I hate to think of him at 25 years of age, with the mental age of an infant, doing all the self-stimulation, not being able to communicate his needs, etc.

Dr. Barshop recommended that we see Dr. Boles in LA for follow up since LA is much closer to us. Anybody familiar with Dr. Boles?

Meanwhile, we also discussed the possibility that the mito is maternally inherited rather than autosomal recessive as Dr. Shoffner said was the case. My other son, who is healthy as a horse, has recently been diagnosed with ADHD and depression. The depression seems to be primary and they are treating him with antidepressants rather than ADHD meds. Nevertheless, it makes one think . . . . . I have struggled for years with depression myself as does everyone in my family--sister, mother, aunt.

Thanks for listening. Every now in then, I just need to vent to people who understand.

Lori, (age 5, mito, complex I and IV, severe MR, GERD, autistic features, vision issues, and Christian (age 7, ADHD and depression)

[Guest guest]

, Thanks so much. I tend to get so emotional about this. I worry about everything---imminent death, longterm disability. I just cycle through the worries but am not ever worry-free. I guess those on this list understand this.

I appreciate the info about Dr. Boles. I will call to get on a wait-list. Dr. Barshop did think we should repeat 's MRI, which hasn't been done since age 6 months. He said this might show the reason for the static development. He also thinks liver and heart tests should be done. I would like Dr. Boles to oversee these tests. I think it would help so much to have someone closer to home who would understand this disease.

Where do you live? We are an hour NW of LA in Camarillo (just beyond Thousand Oaks).

Thanks again, Lori

Re: Barshop/Boles, etc.

Lori, We have seen DR Rick Boles since my kids were infants. He is a wonderful man!!!! Very compassionate and I love his staff. his nurse amy the genetic counselor and Judy the social worker. They truly are like family to us and my kids refer to Rick as Uncle Rick. He is extremely intelligent and sometimes he has a hard time talking to parents in lay terms but if you tell him you don't understand what he is saying he will break it down for you. We love the man! If you want to E-mail me off list and ask more private questions I will try to help you out. He does have a wait to get in to him, but nothing like Cohen for sure. The thing I love about Rick is that he will tell you up front if he doesn't know. And believe me if he doesn't know, it isn't known by anyone yet. He is actively researching dysautonomia and the connection to the Mito right now. He is the one who found MIDS Maternally Inherited Dysautonomia. It is frustrating when they can't tell you a prognosis, but they truly can't with a lot of MITO so don't get disheartened. If you need numbers to call let me know.HUGS! O and crew - Kira,, and Krisalynn Mitochondrial Myopathy-MIDS Maternally Inherited Dysautonomia- NVD ( Nuro Vascular Dystrophy) and dad EnriqueVisit our web page: WWW. caringbridge.org/ca/mitooggoHelp 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 :-)Please contact mito-owner with any problems or questions.

[Guest guest]

I can only tell you what I know of Dr.

Boles. My daughter, Samya died at CHLA and then once her diagnosis was made, I

started seeing Dr. Yano there. Dr. Yano works with Dr. Boles and has a much

more reasonable schedule. He works very closely woth Boles. I like Yano a lot.

In fact, he was there during Samya’s death and he does his honest best

for Leanna now. I have corresponded with Boles via e-mail many times. I have

never actually seen him in a clinic setting, but he knows enough about Leanna.

He always answers my questions promptly, and seems really good. Ortiz knows

him a lot more because he is actually their doctor so her opinion really

counts. I do vouch for his staff. They are great. Amy Radak, etc have

been great . Dr. Boles was aware of Samya’s death and her diagnosis at

the time. He is pretty busy, and so I decided to stick to yano. Dr. Yano asks

Boles id ever he needs a second opinion or input. I feel very comfortable with

him and feel that by him being Leanna’s doctor, I get the best of 2

brains, his and Boles whenever there is any doubt. I really like the genetics

dept at CHLA. The neurology department there beware of. It is not fair for me

to say that about all of the neurologist but overall, I was very unhappy with

that dept. However, recently, all the bad seeds there (the 2 lousy doctors)

have left so I am hoping it will improve. If you read my story on my daughter’s

website, you would understand why I have a bone to pick with them. Good luck.

Suhad Haddad -- Mom to Samya (Died 12-10-02 of Leigh's Synd.) &

Leanna with same disease.

Samya's Memorial Site: www.Samya.org

Email:

Suhad1970@...

Alt Email:

Suhad@...

AiM Chat: Suhad1970

From: Lori Cutillo

Sent: Wednesday, July 28, 2004

2:51 PM

To: Mito

Subject: Barshop/Boles, etc.

Hi, We're back from San

Diego--saw Dr. Barshop yesterday. To be honest,

I'm tired and disappointed. He's the third doctor to basically give us no

information about 's condition and prognosis. He appeared surprised

by 's condition. He said kids with dysmorphic features (where the mito disease started in

utereo) usually present with more metabolic symptoms, i.e. they are sicker

than is. is pretty stable--probably less sickly than

he was as an early infant. Yet, his development is static--he gets older

but remains a 1 year old at best mentally. Barshop couldn't predict

anything about lifespan. And, he didn't have any info about treatments

either---the usual, PT, vitamins.

I hate this disease! I hate the not knowing, the not

having a cure, not having a definite treatment, everything! I don't know

how to go on with a child who does not get better, but yet, does not get worse

either. Will he be this way forever? I hate to think of him at

25 years of age, with the mental age of an infant, doing all the

self-stimulation, not being able to communicate his needs, etc.

Dr. Barshop recommended that we see Dr. Boles in LA for

follow up since LA is much closer to us. Anybody familiar with Dr. Boles?

Meanwhile, we also discussed the possibility that the mito is maternally

inherited rather than autosomal recessive as Dr. Shoffner said was the

case. My other son, who is healthy as a horse, has

recently been diagnosed with ADHD and depression. The depression seems to

be primary and they are treating him with antidepressants rather than ADHD

meds. Nevertheless, it makes one think . . . . . I have struggled for

years with depression myself as does everyone in my family--sister, mother,

aunt.

Thanks for listening. Every now in then, I just need

to vent to people who understand.

Lori, (age 5, mito,

complex I and IV, severe MR, GERD, autistic features, vision issues, and

Christian (age 7, ADHD and depression)

Please

contact mito-owner with any problems or questions.

[Guest guest]

Lori,

What dysmorphic features are you dealing with? I am curious as my

kids have dental and heart anomolies and pigmentation.

We also saw Barshop and i wont go into it but he was NO help and he

told us there was absolutely no way we had mito, I pursued a muscle

biopsy anyway and guess what , it showed mito. complex II and III..

Ill never see him again...

[Guest guest]

Lori,

Thinking of you. Sending hugs and vibes.

Marie (mom to 8 from BCH)

From: Lori Cutillo

Sent: Wednesday, July 28, 2004

5:51 PM

To: Mito

Subject: Barshop/Boles, etc.

Hi, We're back from San

Diego--saw Dr. Barshop yesterday. To be honest,

I'm tired and disappointed. He's the third doctor to basically give us no

information about 's condition and prognosis. He appeared surprised

by 's condition. He said kids with dysmorphic features (where the mito disease started in

utereo) usually present with more metabolic symptoms, i.e. they are sicker

than is. is pretty stable--probably less sickly than

he was as an early infant. Yet, his development is static--he gets older

but remains a 1 year old at best mentally. Barshop couldn't predict

anything about lifespan. And, he didn't have any info about treatments

either---the usual, PT, vitamins.

I hate this disease! I hate the not knowing, the not

having a cure, not having a definite treatment, everything! I don't know

how to go on with a child who does not get better, but yet, does not get worse

either. Will he be this way forever? I hate to think of him at

25 years of age, with the mental age of an infant, doing all the self-stimulation,

not being able to communicate his needs, etc.

Dr. Barshop recommended that we see Dr. Boles in LA for

follow up since LA is much closer to us. Anybody familiar with Dr. Boles?

Meanwhile, we also discussed the possibility that the mito is maternally

inherited rather than autosomal recessive as Dr. Shoffner said was the

case. My other son, who is healthy as a horse, has

recently been diagnosed with ADHD and depression. The depression seems to

be primary and they are treating him with antidepressants rather than ADHD

meds. Nevertheless, it makes one think . . . . . I have struggled for

years with depression myself as does everyone in my family--sister, mother,

aunt.

Thanks for listening. Every now in then, I just need

to vent to people who understand.

Lori, (age 5, mito,

complex I and IV, severe MR, GERD, autistic features, vision issues, and

Christian (age 7, ADHD and depression)

Please

contact mito-owner with any problems or questions.