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Mo: Mother of Undiagnosed Girl

We do not know what is going on with her.

Playtime photo by Shelley Ensz We have an eight-year-old daughter whose symptoms have stumped our pediatrician. On two fingers of her right hand, she has redness and bumps that do not itch and are not painful. She is nauseated on and off all day. She has a pimple-like bump in the corner of her mouth and a new white bump on the tip of her tongue. She says she is hungry all the time but cannot eat. Her tummy feels heavy. She gets pains now and then in her lower right side or in different places, and she has heartburn.

About six months ago, she would be playing and suddenly have to sit down, complaining that her heart was beating too fast and that she did not feel well. This went on for weeks. She had an EKG and an echocardiogram that both showed nothing.

The finger rash, oddly, appears and disappears. The first time, it turned wrinkly and then faded away when she was put on antibiotics for pharyngitis. On that visit with another doctor, we were told the rash was eczema. Later, the same rash appeared again, only this time the left index finger had a swelling on the right side that made her finger look crooked. It too went away. Again, the rash came back on the same two fingers. No swelling this time, just red with pimple-like bumps and no itching or pain.

She was increasingly nauseated throughout the day. Her blood test showed positive ANA. All else was well. She had her hands x-rayed. Nothing was there. She was taken off milk products for a week. No real improvement. She is now on a gluten-free diet. Maybe it is too soon to tell.

We do not know what is going on with her. The doctor will be sending her to a gastroenterologist in a couple of weeks. At the time she saw the rheumatologist, the rash was gone, so he did not have much to say. I know the rash is not the typical scleroderma rash, and she does not have symptoms of Raynaud's phenomenon; however, the traveling pain, the nausea, and the heart and stomach problems make me wonder if these are the symptoms of systemic scleroderma. I read that early symptoms of progressive systemic scleroderma in juveniles differ from adults; however, I cannot find specific descriptions of those symptoms. Our doctor is now checking for celiac disease.

Do any of these symptoms ring a bell? I am looking for a lead to follow.

~ Update August 2001 ~

We still do not know what's up. We were referred to a dermatologist. He said that it looked like lupus and ordered an extensive blood panel. We were then sent to a rheumatologist, who was very thorough in his explanation as to why he felt Alexa did not have an autoimmune disease. He said that her ANA was very low, and all the other tests were negative. He believes the heartburn and nausea problems are unrelated to the rash on her fingers. He said the pains in her joints and the cracking of her knuckles were normal. He tested her flexibility and said it was excellent.

So the next stop was the gastroenterologist. Weeks and sometimes months would pass before we could see these doctors. It was a tough waiting game. Prior to the gastroenterologist's appointment, Alexa was put on medication which helped with the heartburn a bit. The nausea did not occur as often. To this day, the rash appears and disappears.

The gastroenterologist did a barium test and an ultrasound; both clear. The endoscopy showed red irritation at the duodenum. We waited another week to see if she had a parasite. That was negative; the esophagus was fine. The gastroenterologist put Alexa on another medication in hope that within a month, whatever was causing the irritation would clear up. The rash reappeared and because of our health insurance, we had to go back to the same dermatologist for a second opinion before we could go to the specific dermatologist to whom the rheumatologist referred us.

This time, the dermatologist (same office, but different doctor) scheduled another battery of blood tests and said that he wanted to be sure it was not scleroderma. Ironically, I had pushed the first dermatologist to test for scleroderma, but he said that it was extremely rare. He quickly flashed me a picture of a patient with an advanced case on her hands and said that it was more like lupus. He left in a hurry. When I looked over the blood tests he was ordering, I noticed the word ‘CREST.'

After the rheumatologist's opinion and the gastroenterologist's opinion, this dermatologist, who did not have a copy of prior blood work, wanted to test for scleroderma. We had to wait another week because we wanted the pediatrician to check over the tests to be sure they had not already been administered. The pediatrician went on vacation for two weeks; the gastroenterologist went for three. Now we have an appointment with the gastroenterologist to let him know the medication has not solved the problem completely.

Although Alexa has nausea less frequently, she has pain in her chest at times, and still has heartburn. That rash has now disappeared. The 'eat-a-radioactive-sandwich test' may be next. It will be another two weeks before we can talk to the gastroenterologist at Loma Linda Hospital. He is very professional, but very busy!

The blessing in all of this is that Alexa experiences illness in bouts, and then it goes away. For the most part, Alexa is highly energetic, strong, and happy. She even beat her twelve-year-old brother in a push-up competition!

~ Update February 2002 ~

Alexa passed the 'sandwich test' with flying colors. The gastroenterologist said the tests beyond this one are painful, so he is going to wait. He gave her another prescription and another appointment in two months, which was delayed because the doctor was on vacation again.

The same symptoms come and go and overlap. Hardly a day goes by without nausea or heartburn. She complains of pain in the area of her duodenum and around the area of her heart (so she describes). These pains come and go. Sometimes, with no activity, her heartbeat starts racing. When the rash appears on her fingers, it constantly changes. It does not look the same at night as it did that morning.

I called the gastroenterologist to let him know that Alexa felt no difference in spite of the prescriptions, and that I was seeing a definite link between the presence of the rash and the intensity of the other symptoms. He said to take her to the dermatologist the next time the rash broke out, have a biopsy done, and send him the results. He gave us another prescription. He had always believed that Alexa's gastrointestinal symptoms were separate from the rash symptoms; he now believed she may have some type of autoimmune disease.

It is heartbreaking to watch your child suffer and not be able to do anything to relieve it. It is so frustrating to deal with the HMO system. We were just informed that in order to see the dermatologist we prefer, it requires that our current dermatologist write a letter stating there is nothing more he can do. The HMO says that that never happens.

Last week was really tough. Alexa's symptoms have intensified. In spite of her extreme nausea, she pushes herself to get through her school days. She will have bouts that come and go.

On February 13, she tripped while walking up the stairs at school to her classroom. We spent five hours in urgent care to get an x-ray of her ankle. To make a long story short, Alexa now has a cast on her left leg and yet another doctor is added to the chain; a podiatrist.

Our little girl is truly a trooper. She does not let her battle with this mysterious illness knock her down. In spite of the daily visits to the nurse's office, she has managed to be an honor roll student. Alexa is an inspiration, and we know that there is a purpose in all of this.

~ Update ~

Alexa's illness has completely resolved itself, having disappeared about as suddenly as it had started. We are and thankful for our faith, which gave us peace and sustained us through her illness.

To Contact the Author

New email address needed d 09-26-06 SLE
Old Email Prefix: thomasonfarm
Story posted 4-9-01
Update posted 8-26-01
Update posted 2-19-02
Story edited VH1: JTD 9-9-03

Story Artist: Shelley Ensz
Story Editor V1: Judith Devlin
Juvenile Scleroderma
Positive ANA
Voices of Scleroderma Volume 1

This Story is Featured in Voices of Scleroderma Volume 1

Voices of Scleroderma Volume 1 The story on this page is featured in the top-notch Voices of Scleroderma Volume 1 which features articles by top scleroderma experts, including Dr. Joseph Korn, as well as 100 true patient and caregiver stories from this website! The book delivers excellent information and support for scleroderma patients and caregivers. It's a great way to inform family and friends about scleroderma, too!

ISN Story Editor: Judith Thompson Devlin

Photo of JudithJudith Thompson Devlin is the ISN Story Editor for this story. She is also lead editor of the ISN's wonderful Voices of Scleroderma book series!

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