Looking for answers...can y'all help?

[deleted account] ( 4 moms have responded )

My daughter is 7, and although she has not been diagnosed yet, she has soooo many medical issues going on, we know there IS something wrong, we are just wanting to finally get it diagnosed so we can either fix it or start living effectively with the right medications and treatment.

I was hoping by joining this group, one of you moms that have been through this with all the specialists and tests etc. might have some advice for me as a mom. Also, I would like to post some of her symptoms in the hopes that some of what she is going through might be something one of you knows about. I will tell you that we have been to 2 endocrinologists (who were both jerks, sorry), 2 gastroenterologists (the second one is amazing), a urologist, nephrologist, neurologist, cardiologist, a Lipid Team, psychologist (we were sent here by the first GI dr.), and now we waiting for an appointment with a rheumatologist. All of the doctors so far have just been able to treat the symptoms. Here are her symptoms and some of the illnesses she has had:

Meningitis (4weeks old), colic, acid reflux, RSV (all as an infant)

over 50 UTIs in her lifetime

chronic bowel problems (alternating periods of extreme fecal blockages and then incontinence)

urinary incontinence

chronic moderate to severe pain in her joints, most prevalent in her neck, shoulders, back, and knees

frequent numbness in her feet and legs

high blood cholesterol

extreme fatigue

precocious puberty (the endo is not wanting to treat this, but I am worried about it)

This had gotten so severe last year that as a first grader she missed 66 days of school, even though she completed the work at home and I also worked at her school and her teacher was going to pass her. But the rules governing private schools in this state prevented her from being promoted to second grade, and with her symptoms worsening, I knew she would miss even more days this year. So I quit my job and we are homeschooling. Some days her pain is so bad that she lays in bed while I ask her the questions and write the answers for her. Sometimes I even have to hold her chapter books and turn the pages for her while she reads to me. Just going to the movie and then coming home causes so much pain and fatigue that she spends the next day in bed recovering. This is not right for a 7 year old little girl!!!

I am just praying that someone might have some suggestions. Her urologist was honest that he is just stumped, and even though he is successfully treating her UTIs, he said that those will not go away as long as she is having the bowel problems, which the GI dr. is trying to get to the bottom of, but he is even stumped so far. These doctors are not looking at whole picture though, and I am thinking there might be a diagnosis out there that they are not aware of.


View replies by

Chris - posted on 02/20/2010




Does what she have seem to be progressive? You mention high blood cholesterol and lipids -- how high????? Numbness in her feet and hands -- something might be going on with her brain. Many kids with neurological disorders have problems with their bowels.

You need to see a top notch neurologist ASAP. Consider Dr. Marc C. Patterson at the Mayo Clinic -- he is one of the best neurologists in the world. He sees many of the hard pediatric cases plus he is just a world class doctor . Also, Dr. Robert Steiner at OHSU in Oregon -- he is a lipid specialist and also looks at metabolic conditions. Consider him as well. At NIH there is Dr. Forbes Porter (cholesterol expert) and Dr. Bill Gahl (undiagnosed cases).

Do not mess around if your local doctors can't give you answers. Something is seriously going on and you must get to the bottom of it. It took me 18 months go get an answer on my girls -- obviously not the answer I wanted - but at least I can try and save their lives knowing what is wrong with them.

Also, get involved in the Children's Rare Disease Network.

Tina - posted on 04/08/2009




My son was so sick aslo, I finally got very angry and took him to a Children's Hospital and was able to get genetic testing done to find out what he had. I would certainly request to see one.

I will pray for your daughter and you.


Karen - posted on 03/17/2009




I am so sorry you and your daughter are going through this. I remember how hard it was while I was waiting to find a diagnosis for my son, it is isolating and scary. I wish I knew what to suggest. I agree that a rhumetologist is needed, my son also has joint issues as part of his disease and it was a rhumetologist who was able to piece all the symptoms to a diagnosis. There are many autoimune disorders and other diseases that involve the joints, that also encompass a wide range of symptoms that otherwise seem unrelated. I will keep you in my thoughts and hope your daughter (and you) are able to find some relief and hope.

Cari - posted on 03/16/2009




I hope the rheumatologist will be able to help with your daughter's pain.  The poor child (and poor you)!  It sounds like she doesn't have any developmental delays?  It sounds like you have been to all the right doctors!  The only other suggestion would be a geneticist.  That is how my daughter was finally diagnosed.  Sorry.  I wish I had more suggestions.  All my best,  Cari

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