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Old 02-12-2016, 02:28 AM #41
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Thowell, what kind of genetic screening are you and your husband considering for your daughter?

If it is a narrow screen (looking for genetic differences which are known to be causal of genetic diseases), that could provide helpful information.

I am far less sure about the possible benefits of genome-wide screening. In a genome-wide screen what is done is to look for Single Nucleotide Polymorphisms (SNPs) across the whole genome. It is inevitable that your daughter will have many SNPs because all people, apart from identical twins, are unique in a genetic sense.

The great majority of SNPs are not associated with any known disease. A minority are but, as far as I know, few if any of them have led to improved treatment options for the disease in question.

It might be an idea if you and your husband asked your geneticist searching questions about these points and then decide whether or not a genome-wide genetic screen would help your daughter.
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Old 02-12-2016, 05:52 PM #42
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Quote:
Originally Posted by Jo*mar View Post
Has she been evaluated by a mental health professional to see if they think there is an anxiety issue or not?
I might do that before genetic testing.
That would clarify if it is an issue or not.
If not you could wave the results in the other drs faces...

But I wouldn’t go back to any unhelpful drs again unless I had no other option..
No not yet. That is the next referral. She will be seeing a pediatric psychiatrist. The geneticists thinks they will want further testing before they rule it mental anyway. He doesn't feel enough has been looked at to rule out other organic causes aside from mental health.

I will say this. She spent Tuesday-Thursday at a week long camp meeting our church has every year. She had a terrific time and gets to see friends from all over the country during this time. However, she was still in constant pain even though she was up and moving most of the day and was the happiest she has been in a while as this is something they look forward to all year. She endured the pain because it was so important to her. There is no reasonable explanation as to why a 12 year old girl should be in constant pain all day no matter what she is doing. So I hope moving forward we get more answers. And yes we will not be going back to the Pain Clinic as that was a waste of time.
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Old 02-12-2016, 05:53 PM #43
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Originally Posted by kiwi33 View Post
Thowell, what kind of genetic screening are you and your husband considering for your daughter?

If it is a narrow screen (looking for genetic differences which are known to be causal of genetic diseases), that could provide helpful information.

I am far less sure about the possible benefits of genome-wide screening. In a genome-wide screen what is done is to look for Single Nucleotide Polymorphisms (SNPs) across the whole genome. It is inevitable that your daughter will have many SNPs because all people, apart from identical twins, are unique in a genetic sense.

The great majority of SNPs are not associated with any known disease. A minority are but, as far as I know, few if any of them have led to improved treatment options for the disease in question.

It might be an idea if you and your husband asked your geneticist searching questions about these points and then decide whether or not a genome-wide genetic screen would help your daughter.
I will ask them Monday when they call me the exact type of testing. I know he mentioned something about Metabolic???? I really am not sure but will post it here when I find out. Thanks for the info.
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Old 03-24-2016, 12:23 PM #44
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Just updating for my records and to let everyone know where we are on this long journey.

Tuesday we finally got the funds together for the genetic testing. The three test were organic acids, amino acids urine test, comprehensive fatty acids test. However the nurse explained that the geneticists used these test in a different way than traditional. Not sure what that means but now we wait.

Dd12 is doing PT 2x a week and OT 1x a week. I am glad it helps to get her moving but otherwise does not seem to be having any affect on the pain. Symptoms are mostly the same. All over pain focused in neck, head, shoulder, wrists, hands and occasionally ankles and feet. Chronic fatigue, nausea. Light headed, dizziness and feeling faint.

She had her first appointment with Psychologist today. Just evaluation but she did set her an appointment with Child Psychiatrist and said Dr. would definitely want PCP to order medical testing to rule out multiple disorders before they would dx as mental issue. In the meantime Psychologists will be working on Cognitive Behavior Therapy with her and helping her deal with pain and anxiety from it. So, a tiny step forward but still no relief in sight for her. Nothing eases her pain and PCP is not willing to try anything stronger for pain so she suffers. She said to me the other day that she just didnt know how much longer she can take this. Will update again when I have more to tell. Thanks for listening and any advice.

ETA - We have appointment in couple weeks with new PCP that is a DO to see if we will switch to him. I know we will be switching from our current PCP but need to make sure we find the right one first.

Last edited by thowell; 03-24-2016 at 01:09 PM.
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Old 03-24-2016, 01:16 PM #45
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Hi and good to hear your update...Here is a informative link worth digesting.

https://www.glutenfreesociety.org/pr...ion-pain-trap/

My grandgirl who is now 19 and has been eating GLUTEN foods since she could eat, so a lot of years of gluten foods. She's been dealing with acne from about 13 yrs to now..she's taken meds, peels, laser and the acne lives on. Her mom has spent mega $$$ on these protocols...and acne living on.

So she finally gets to the gluten issue and it all seemed to make sense to her...so she went off all gluten and went thru detox etc etc...but NOW her skin is beautiful. A stomach bloating is gone.

Gluten seems to be a major culprit for many whether celiac or not...many are intolerant to gluten and eating gluten is manifesting in so many health issues. Personally, I'm off gluten products about 70% or so..For me I have not brought breads of any kind into my house for 7 yrs or so and I started out buying gluten free bread and then just decided I don't NEED breads period...I buy gluten free crackers and so control sugars. So much is gluten free now as the people are becoming more aware. Many are not but more and more are looking into this and making changes....C
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Old 03-24-2016, 03:02 PM #46
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Quote:
Originally Posted by caroline2 View Post
Hi and good to hear your update...Here is a informative link worth digesting.

https://www.glutenfreesociety.org/pr...ion-pain-trap/

My grandgirl who is now 19 and has been eating GLUTEN foods since she could eat, so a lot of years of gluten foods. She's been dealing with acne from about 13 yrs to now..she's taken meds, peels, laser and the acne lives on. Her mom has spent mega $$$ on these protocols...and acne living on.

So she finally gets to the gluten issue and it all seemed to make sense to her...so she went off all gluten and went thru detox etc etc...but NOW her skin is beautiful. A stomach bloating is gone.

Gluten seems to be a major culprit for many whether celiac or not...many are intolerant to gluten and eating gluten is manifesting in so many health issues. Personally, I'm off gluten products about 70% or so..For me I have not brought breads of any kind into my house for 7 yrs or so and I started out buying gluten free bread and then just decided I don't NEED breads period...I buy gluten free crackers and so control sugars. So much is gluten free now as the people are becoming more aware. Many are not but more and more are looking into this and making changes....C
It is funny that you mentioned this. Celiac Disease is something that has recently popped on our radar. I never thought of it before because I was misinformed thinking it was GI issues only. This is one of the things that will show in the genetic testing we just had done. Thanks for the info.
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Old 03-28-2016, 04:14 PM #47
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Default Update - Easter hospital stay :(

Well we spent Saturday night and Easter in the hospital. I took dd12 to the ER Saturday evening because she was complaining and crying with severe chest pains. This was a symptom she has never complained of so it was a bit scary. She also kept saying she felt like she was going to pass out. So, EKG was normal, chest X-Ray was normal and apparently they did basic bloodwork and all was considered normal. They gave her Morphine and that helped her pain for about hour or so. Then all pain was back. Through the night they tried Toradol with no results, Naproxen with no results. Easter morning doctor came in and basically told us they did not know what was wrong with her and that he doubted any doctor would!! He also told us there was no medicine that could help her but "oh by the way, dont give up hope"!!! What crap! So they sent her home feeling just as bad as when she went in. I again asked for them to run a lyme test and was again told no. Guess we will have to pay to get that done as well. I am just about to lose my mind! I am exhausted, I cant touch my own child because every inch of her body hurts and noone will help!!!
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Old 04-05-2016, 11:17 AM #48
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I sent you a PM about specifics about my kiddo and the chronic pain rehab program she attended. Happy to answer any other questions too. It changed the course for us in a positive way.
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Old 04-12-2016, 07:03 PM #49
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Updating for my records.

Genetic testing is in and will get results this Friday morning. I am so hopeful this will finally give us some answers.

Dd is doing pretty good. She did stay in the bed most of Saturday and Sunday from being exhausted and pain. She also started her monthly Sunday so may be a connection.

She has developed yet another new symptom. Thursday she woke up complaining of her scalp and neck itching and burning with some sort of rash. As it progressed it appeared to be hives. It has not subsided as of today 6 days. It seems to move around on her body. Sometimes she can actually feel the hives before they pop up. She also has very intense burning sensation on her scalp which seems to move around a bit.

We have not been completely successful with clean diet still trying to get remaining gluten out of diet. We are going grocery shopping Friday and plan to be 100% gluten, processed food, free by Monday. Dd is committed to it for a full month so we can see how it affects her. Still not taking any meds which is a good thing but also has no relief from mirage of symptoms other than to try and distract herself.

Will update with genetic testing results Friday. Keep fingers crossed, say prayers, wish us luck that we will find some answers.
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Old 04-16-2016, 05:22 PM #50
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Default Update with dx!!!!

Well we saw the geneticists yesterday and it looks like we finally have a dx.

Dd has been diagnosed with Mast Cell Activation Disorder.

He is placing her on a strong antihistamine and a Mast Cell Stabilizer. She is also now required to eat a very clean low histamine diet. There are additional testing that he wants to do in order to solidify the dx and treatment. However, right now we are fighting with insurance to cover anything!! I am so glad to finally know what has been wrong with her all this time. He is not sure if the initial neck injury is specifically related or not and said we may never know that for sure. It will be hard for her to eliminate so many things from her lifestyle but she is determined so I have high hopes!!!
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