Trying to figure out if my daughter has Wilson's
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!
