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Trying to figure out if my daughter has Wilson's

Belle6000
Dec 13, 2016 • 11:36 PM
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My 14 yr old daughter has been having health issues for over a year now. She's had behavior/personality changes for the last couple of years as well as anxiety & depression which has only gotten worse. She lost her appetite last fall and wasn't eating much. She was a gymnast. She was out of gymnastics at the time because of a stress fracture in her back. When she went back to gym her appetite was still decreased and she lost a lot of weight very rapidly. We pulled her from gymnastics and took her to the pediatrician.

The pediatrician looked at her age (13) and her weight loss (10 lbs.) and said she had to have an eating disorder. They looked at nothing else. We did what they told us to do....going to a dietitian, etc. She began eating better, but was still getting sick when she ate. The pediatrician was useless and refused to look at anything other than an eating disorder even though the eating disorder clinic evaluated her and told us she did NOT have an eating disorder.

She has a history of GI problems including a fundoplication that was done with an esophagus surgery when she was a baby. We took her to her GI doc. They ran scopes and didn't see anything other than some irritation in the stomach. She continued to lose weight no matter how much she ate. In July the GI hospitalized her and put a feeding tube in her nose (after she got down to 59 lbs!!!) She got back up to her normal weight and the tube was removed. She has gradually lost weight again since then. She eats 3 meals a day plus a snack. She does no sports or physical activities any more. GI can not explain it.

Endocrine has done tests and her growth hormone is low and one puberty hormone is low. She hasn't grown in about 2-3 years and puberty started and then stopped. We have more endocrine tests scheduled for early next year. (That was the soonest they could get us in.)

She’s had lots of bloodwork in the last year. Her ALT has been high, not horribly high, but high. AST normal. I asked our family doctor to run a copper test for Wilson’s. He ran the copper serum test and it was low so I asked the GI to run the caeruloplasmin and it also came back low. He then ordered a regular urine test. It came back normal so he won’t order a 24 hr. one. I’ve asked the nurse to ask him again. Waiting for that return call now.

Coincidentally, we just got back from the ER with our daughter because we thought she was having an allergic reaction. She has a peanut allergy. Her throat felt funny and she was nauseous. She would have been vomiting, but she can’t because she has that fundo so she physically cannot vomit. Anyway, they gave her some steroids and sent us home. She is still sick to her stomach….just dry heaving since she can’t vomit. Now, I’m worried that maybe it’s not an allergic reaction, but something to do with her liver.

So, my question is did anyone have just a regular urine test? Not a 24 hr. one? I’m still trying to get the GI to do the 24 hr. one, but I don’t know how to make a doctor order a test they don’t want to order.

And, could the vomiting/nausea have anything to do with the liver? It came on pretty suddenly today.

Also, has anyone had weight loss or no growth with their Wilson’s? I feel like I’m really the only one trying to figure out what’s wrong with my daughter. Our experiences with doctors this last year has been awful. I know there is something wrong, but no one will listen to me. Thanks!

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Cooperdonna
Dec 14, 2016 • 1:27 AM

Yes I had a normal urine test. Plus a normal 24 hour urine test. It was an uphill road to my diagnosis because of this but yes I do have Wilsons Disease. And yes, I had a very hard time having doctors listen to me just as you are having .

Nausea is a symptom of Wilsons Disease. I've been nauseous for four years now , I take medicine for it so it's manageable .

Your daughters high ALT and low ceruplasmin is at the very least, a small red flag , don't you think?

I have found the doctors will always find the most benign reason for your physical complaints, and then move forward from there . You have to remain consistent, persistent, and is sheer pain in the a** in order to get the proper testing done.

You're going to have to really get up to speed by reading other peoples journal entries , educating yourself on Wilsons Disease , The various tests included , and how many of the tests are very inconclusive .... which lead you down the road of nowhere sometimes .

Stay vigilant! Fire any and all doctors that will not listen to you!

It took me more than two years of fighting with the medical personnel , , The experts , and even my own family .... but I finally got to the bottom of my problem. It was Wilson's disease...just as I told, pleaded and begged the doctors to listen to me.

Do not give up!

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Belle6000
Dec 14, 2016 • 2:54 AM

Thank you, Cooperdonna. I have been reading as much as I can find on Wilson's. If you have any specific websites that are good I'd love to hear about them.

We fired the pediatrician already, among some others that would only consider an eating disorder. This year has been the most stressful of my life! I'm actually hoping the 24 hr urine comes back high. Not that I really want her to have Wilson's, but I'm so ready to have a diagnosis. And if it doesn't come back high, the GI doc will completely dismiss me. The problem is that no one else seems to be able to find anything that could be causing all of her symptoms.

I've been reading posts on here for a few weeks and reading some of the diagnosis stories have been really helpful. I hadn't posted yet because my daughter hadn't been diagnosed with Wilson's yet, but it's been so frustrating dealing with the doctors that I decided to go ahead and post hoping that I'd find information on here that could help get her diagnosed sooner. I can already see that this disease doesn't present the same way in everyone. Our GI doc told me that he has a couple of Wilson's patients and they are pudgy. She's underweight. He said that Wilson's wouldn't cause that, but I just think he doesn't have enough experience with it. He also said she'd have to be anemic too, but I don't believe that's true in every case either.

The GI's nurse called back and he's going to order the 24 hr. urine copper. My daughter is on prednisone for the next 5 days though after her allergic reaction today. I don't know if that will affect anything. I was going to ask at the lab when I pick up the container.

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Cooperdonna
Dec 14, 2016 • 3:08 AM

You need to know that the 24 hour urine test is not always conclusive.

My first 24 hour urine test was zero . The doctors told me that there was no way that I could have Wilsons Disease , but I had already had confirmed KF rings in my eyes , neurological problems , and elevated liver enzymes.... but because my 24 hour urine test was negative , impose a huge problem for me .

It took two years a lot of fighting , A family that didn't believe me , didn't support me ... I ended up losing everyone in my family including my children , because the doctor said that was fine. But I knew I wasn't .....

I fired every doctor that told me I was fine , and finally found a doctor that gave me the diagnosis .

Of course overtime my symptoms of really worsened and I'm very disabled , all because of the long drawn out Diagnosis.

This is why it is imperative that you don't except no for an answer and you continue your search for the correct doctor ... if it is Wilsons Disease each day copper is accumulating inside of your body creating damage that for some cannot be reversed .

keep us posted and best of luck!

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Cooperdonna
Dec 14, 2016 • 3:18 AM

Loss of appetite is listed as one of the symptoms in this link

https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease

Try googling weight loss with Wilsons Disease

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Cooperdonna
Dec 14, 2016 • 3:23 AM

Nausea and vomiting as a symptom

http://www.news-medical.net/health/Wilsons-Disease.aspx

I also have nausea and vomiting which many tests were run with no conclusive results . Until recently it was discovered that I have a fatty liver ... i've been nauseous for about four years now ..

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caterry
Dec 14, 2016 • 3:57 AM

Belle6000,

WD can present with many different symptoms and there can be a different set of symptoms for each patient. Not all patients always have a particular symptom, and the fact that a given patient does not have a specific symptom, like anemia, or doesn't look like another patient, (pudgy), does not rule out the disease. You can find a lot of good information on the WDA website, including a list of doctors who have experience diagnosing and treating WD. To get to the WDA website, click on the WDA logo at the top of this page.

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buddynusa
Dec 14, 2016 • 2:45 PM

Hi, when you pick up your container for your 24 hour urine test make sure it is the proper container, they are usually acid washed and it needs to go to a lab that checks were total copper. Many of them are sent to the wrong lab and not check properly and the wrong container.

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Belle6000
Dec 14, 2016 • 3:33 PM
In reply to buddynusa's comment

Ok. I will double check the container when I pick it up today. Thanks.

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Belle6000
Dec 14, 2016 • 3:36 PM
In reply to caterry's comment

Caterry, that's what I thought. I've done a lot of research in the last few weeks and that what I seem to read everywhere. It's annoying when the doctors don't bother to do any research though...especially after I've brought up the disease and told them that she has a lot of the symptoms!

I second guess myself sometimes and say, "What if it isn't Wilson's?" My husband says, who cares, just get the test and rule it out then.

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Belle6000
Dec 14, 2016 • 4:14 PM
In reply to Belle6000's comment

Since I do second guess myself all the time, here are her lab results. Am I wrong to suspect Wilson's? Or does it look like something that should be tested for? I figure this community has more experience with it than the doctors we're seeing.

She's had a lot of labs done in the last year. I'm just listing the things that I think may be related to Wilson's.

Jan 2016:

Urea Nitrogen (BUN): Normal

Creatinine: Normal

ALT: 11 (Range 6-19) Normal

AST: 21 (Range 12-32) Normal

White Blood Cells, Neutrophils, Monocytes: all low

March 3, 2016:

Urea Nitrogen (Bun): 21 (Range 7-20) High

Creatinine: .83 Normal

ALT: 23 (Range 6-19) High

AST: 21 Normal

Ferritin 126 (Range 14-79) High

White blood cells, monocytes: low

March 8, 2016 (ER visit):

ALP: 61 (Range 90-360) Low

ALT: 36 (Range 10-50) Normal

AST: 23 (Range 10-45) Normal

BUN: 23 (Range 5-18) High

July 6, 2016:

ALT: 106 (Range 27-42) High

ALP: 40 (Range 62-284) Low

AST: 35 (Range 15-35) Normal

Nov. 2, 2016:

ALT: 26 (Range 6-19) High

AST: 22 (Range12-32) Normal

BUN: Normal

Nov. 3, 2016:

Copper Serum: 70 (Range 72-166) Low

Nov. 30, 2016:

Ceruloplasmin: 17 (Range 21-46) Low

Dec. 6, 2016:

Spot urine copper test: Normal

So, basically, she's had high ALT (but the GI doc says it's not THAT high) and Low copper serum and ceruloplasmin (but the GI doc says it's not THAT low!)

One set of blood work had normal ALT, but when I got on the portal to the children's hospital here it showed her blood work from when she has surgery as a baby (17 mo. old) and her ALT was high then too!

Her thyroid was low for months too, but it came back up when she gained weight with the feeding tube.

Also, other symptoms are as follows:

Physical: loss of appetite, weight loss, joint pain, lack of energy/motivation (not sure if that one is physical or not), no growth, short stature, no puberty (it started a little, then stopped), cold all of the time.

Psych: anxiety (social and general,) depression, mood changes, irritability, personality changes

No neuro symptoms that we've noticed.

From these results and symptoms what do you think? Do you think Wilson's should be considered?

Thanks so much!

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Heron
Dec 15, 2016 • 4:41 AM

Yes. Wilson's should be considered. Low ceruloplasmin, especially combined with moderately high ALT and loss of appetite, as well as the psych changes, are all classic symptoms of WD. It can also affect menstrual cycles and cause something called dysautonomia, which can affect body temperature.

WD presents in extremely variable ways, so just because your doctor saw other WD patients who had different symptoms doesn't mean she doesn't have it. And a spot urine test means nothing in diagnosing WD.

I'm glad that you are getting the 24 hour urine test. Has anyone mentioned a slit lamp exam for Kayser Fleischer rings? That would also be a standard test, which should be done by an ophthalmologist.

Stay in touch and let us know what happens. Remember that if it is WD, it is highly treatable.

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Belle6000
Dec 15, 2016 • 3:30 PM
In reply to Heron's comment

Thank you, Heron. I had not heard of dysautonomia before. That is certainly something that I need to look into further!

No one has mentioned the slit lamp exam. No one mentions anything if I don't bring it up. :(

She doesn't have neuro symptoms so I wasn't sure if she'd have the KF rings, but it surely wouldn't hurt to check.

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Heron
Dec 16, 2016 • 5:59 AM

WD patients without neuro symptoms can still have KF rings, although not all WD patients (even with neuro symptoms) have them.

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Belle6000
Dec 23, 2016 • 3:58 PM

Got the results from the 24 hr copper urine test today. Copper was actually low: 7 mcg (Range 15-60)

Now I don't know what to do! The GI doc says she does not have Wilson's. She still has all of the same symptoms and is still slowly losing weight. She's very underweight so the doctors blame everything on low weight or malnutrition. The problem with that is what made her lose the weight in the first place???

I'm so frustrated.

Does anyone know of a doctor in the Dallas-Fort Worth area of Texas that might specialize in Wilson's or at least be familiar with it?

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Cooperdonna
Dec 23, 2016 • 5:23 PM
In reply to Belle6000's comment

Low 24 hr urine doesn't rule it out!

Doctors will tell you that it does tho....

I'm so sorry that you're w/o answers, I know the frustration well...

Can you imagine going thru this for a few years only to find out that you had WD all along?

Maybe others here can help find the right doc. Good luck.

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