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Back from Mayo!!!


DawnA
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Hello munchkins! I'm back! There are soo many threads here to catch up on!

My trip was good and I was physically doing pretty good. It always has to do with my menstural cycle. I saw Dr David Whiteman a metabolic geneticist. He was brilliant!!! Unfortunaely my medical records and referral letter did not reach him. Fortunately I had copies of all of the results from my muscle biopsy and a few other records. It was good that he did not get to read any of the notes that say I am crazy.

He was very thorough and suspects mitochondrial myopathy. Which my neurologist said I did not have. HE told me what I have is REAL and I am not crazy, but Drs may tell me this, if I have not already heard it. It was soo nice to be validated. He explained all of my biopsy results and was concerned regarding family history. He was able to describe my oldest daughter as an infant to me and feels my nine year old does not have Crohn's disease. He feels she has autonomic dysmotility. I totally agree. I have not followed up with her gastroentology appts and took her off of her Crohns meds. She is fortunaely doing well. He mentioned seeing my daoughters after we figure a few things out with me.

I had a lot of blood work done. I also had a skin biopsy, hearing test, ekg and a n echocardiogram. I wish I knew the results of my echo. They would not give them to me when I was there. I go back in one month and will see neurology. I am not seeing Dr Low. I am seeing Dr Folger for general consultation and he will decide if I need autonomic testing again. Dr Whiteman is more concerned about the overall picture. He noticed that my left lip droops.

I strongly recommend to anyone who feels they have something genetic going on to see a geneticist. They are a different breed of Dr. I have seen two of them and have been impressed. They are very skeptical of any other Drs opinion and dx. They want facts and are very very detail oriented. They do not miss much. They are very good at putting the pieces of a puzzle together and finding answers. Dr Whiteman spent an hour and a half with me and had so much to say my head is still spinning. I have never been more impressed.

Dawn A

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Welcome back Dawn! I so pleased to hear that your trip was so fruitful and that your experience with the doctor was positive. Good stuff!!! Nina

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Guest tearose

Hooray, hooray your back safe and sound!

Dawn, it is wonderful that the genetic workup and the geneticist made the trip all worthwhile. With all the lousy experiences we have to endure, it is refreshing to know there are some gems out there!

I am relieved too that you could share your concerns about your daughters and get some validation that your instincts are right!

Take time to recharge your battery and let your head stop spinning, tearose

P.S. did you crochet anything?

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Welcome home, Dawn! I'm glad to hear that you're doing well! And, surprised too, that after so many months after meeting you to find you on this forum!! I'm glad to hear that your daughter is doing well after you took her off of the meds. What a blessing. That is fantastic that you were able to meet with knowledgable (and understanding) docs at Mayo. Mito is what you've suspected all along, right? What did your muscle biopsy show?

Love,

Kristin

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Thank you everyone for the welcome backs! It was a good trip, but I did not get to make my crooked scarf. I had the yarn, book , but lost the hook. Oh well their is always next trip.

I was able to manage well at Mayo, having my htel connected. I difinitely helped that I was post menses. If I had gone the week before, it would of been difficult. Fotunately my next trip is around the same time of the month.

As far as my biopsy goes...my neurologist in milwaukee told me I did not have a mitochondrial disorder. I have myofiber degeneration, a slight accumulation of lipids and mitochondria. It show a metabolic myopathy. It was then sent in for CPT analysis, which came back normal. Yet it was not normal. Everything was either low or high. Dr Whiteman said he was more lenient on the results and considers a CPT deficiency at 50% were I am at. But, a CPT deficiency does not explain all of my problems. CPT is an enzyme that breaks done fat before it is oxidized in the mitochondria.

He said that my abnormal muscle tissue is that of someone at the beginning stages of mito. Based on that, my multisystem problems and family history he strongly suspects a mito disorder. Yes I* have suspected this for over a year now. The funny thing is I never even mentioned to him that I thought I had a mito disorder. Hopefully the skin biopsy will give us more information. I am probably looking at another muscle biopsy in the future.

Kristin, did you see Dr Rhead at CHildren's? Dr Whiteman mentioned that my girls should see him.

Dawn

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Dawn,

So glad you are getting excellent care and are finally being validated. You deserve it.

I can't remember if you have told us what your family history is. Would you mind sharing?

I have no family history of a mito disorder or anything genetic, for that matter. But I sure have some serious muscle wasting going on, and I am wondering if maybe I'm missing something. Is a muscle biopsy the only way to know?

Amy

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Sure Amy, I do not mind sharing my family history with you. As far as genitics of mito...it can be sporadic or there is maternal inheritance. SOme of the enzyme deficiencies come from both parents.

My family has a maternal inheritance (meaning mothers pass it to children) that is quite obvious. My mom has all sisters so it is girls in my family.

maternal grandmother died at 47 asthma????? mito can make you very short of breath!

mother-67 fibromyalgia, stroke at 57, heart disease, interstitual cystitis, mental illness, muscle pain, ptosis, seizures ....recent complaints of muscle weakness, and gait difficulties, fatigue, migraines

maternal aunt- died last month at 61 from heart failure. knowledge of history limited. Spent the past ten years in a wheel chair at a nursing home. Also ward of state of California due to mental illness.

Maternal Aunt-64 presently in a venilator hospital in Michigan. She has been on a venilator one month. Multiple health problems!!! Wheel chair for eight years.

brother- asthma, mild complaints of muscle problems and orthostatic intolerace. migraines

myself-CFS,fibromyalgia, POTS, autonomic neuropathy, GERD, intestinal dysmotility, ataxia, muscle weakness, myopathy, asthma, depression, CPT deficiency

Daughter- 13 POTS autonomic neuropathy, migraines, sickly as an infant, requires frequent meals and high calories or feels ill. asthma

daughter-9 crohns disease, depression/anxiety, learning delays, short stature and autonomic symptoms. asthma

Amuscle biopsy is the last resort for trying to diagnose a mito disorder, however a normal biopsy does not rule out mito. THere are a lot of specific blood tests, genitic tests, urine tests that can help determine what is going on. All of my blood tests have been normal which is common in adults. A skin biopsy can test for a lot of things and not as invasive as a muscle biopsy. A physician doing the testing should be knowledgable in these disorders and know what to look for.

Even if you do not have a family history does not mean that you do not have a genetic disorder! I hope this information is helpful.

Dawn A

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Hi Dawn,

Yes, I did see Dr. Rhead at Children's. He was wonderful! If you make an appointment, see if you can get Angela for a nurse. She's a sweetheart. They're very caring and incredibly thorough. I was impressed. :)

I had to go see him because I was not yet diagnosed and my aunt has mitochondrial myopathy. She sees Dr. Rhead, too.

Love,

Kristin

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Wow, Dawn, your poor family has had to deal with a lot.

I have no family history of much at all except my grandfather on my mom's side died in his sleep at age 36 of what was either an aneurysm or a pulmonary embolism. I am actually working on finding out which right now so I can know for sure. I guess if you have a family history of aneurysms, you're supposed to get checked periodically for them, because they may be hereditary.

Anyway, most people in my family have lived to a very old age or at the very least, 75 or so. My dad was the only one thus far to die prematurely -- at age 67. He had diabetes and was very obese. I am the opposite. I also have six healthy brothers and sisters who are all older than me, so that's in my favor too. But I see your point about not needing to have a family history; I think it just makes things like this more likely.

Thanks for the info.

Amy

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