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Our youngest daughter, Candice, has a rare disease called Mastocytosis. There is no cure for this orphan disease.
Candice, was diagnosed with Mastocytosis when she was about 4 months old.
She was born on March 19, 2006 with 1 tumor on the back of her right leg. It was originally thought to be a birthmark.
When she was just 5 weeks old she spiked a very high fever and had to go to the emergency room and had numerous tests done to determine the cause of the fever including a spinal tap. She had to be hospitalized due to an Urinary Tract Infection. She was in the hospital for 4 days. During her stay in the hospital she received antibiotics through and IV. Then continued antibiotics upon release from the hospital.
Immediately when we were home from the hospital she started getting more tumors in other areas of her body (on legs, toe, face, ear, wrist, etc.) and the original one along with the new ones started swelling, filling with fluid, and then errupting. Usually with a clear or even pinkish red fluid. Then they would return right back to the original look that they had had before the swelling and erruption. She also began to have flushing where parts of her body would turn a bright red and where ever she was red would feel like a really hot fever.
We immiedately contacted our pediatrician and got Candice into her office. We were referred to a dermatologist right away. The dermatologist immediately diagnosed her as having Mastocytosis through Darier's sign. We had never heard of Mastocytosis and left the doctors office with a little bit of information on one sheet of paper. Since the deramtologist was not a pediatric dermatologist we had to get a referral to Children's Hospital in Dallas TX to their pediatric dermatology dept.
We went to the Children's Hospital in Dallas, TX. Upon getting in to see the pediatric dermatologist (there was a waiting list) she was then put on a steroid cream (for 2 weeks), zyrtec once a day, and benadryl as needed for the flare ups and masto reactions.
Once she started walking she started having more problems with the Mastocytosis, with more flushing and even more reactions (swelling, filling with fluid, and errupting). She has always been an extremely active little girl!
She returned to see the pediatric dermatologist at just over a year old. She was then put on a steriod cream, zyrtec twice a day, allegra once a day, and benadryl as needed for when the zyrtec and allegra just aren't doing the job. The benadryl seemed to help the flushing and swelling the quickest! On our visit to her pediatric dermatologist it was suggested that when she is a little older she should have the mastocytomas (for which she has many) removed by a plastic surgeon. I didn't know that this was possible!! I have heard that even with surgical removal they can come back. So we opted not to have this procedure done.
The tumors are increasing in size. She has many mastocytomas and continues to get more. Her mastocytosis is catergorized as uticaria pigmentosa (or UP for short). The tumor on her toe makes it almost impossible to wear shoes! Heat, friction, and activity seem to be the major triggers for her, as well as teething.
We have a lot of worries and questions for her future: What will happen once she starts school? Will she be able to wear shoes later on with the tumor on her toe, be able to do activities that require physical activity where she could get hot or could create friction, have to remain indoors in the cool air all the time like she does now as not to get too hot? Will it turn sytemic? She has started having some signs of it possibly going sytemic.
On our first visit to the pediatric dermatologist we were told that she had a great chance of the tumors disapperaing before puberty. Now on our second visit we were told that because of the type of mastocytosis she has and the number of mastocytomas that it will not go away. That is it more severe than originally thought.
We have tried to get her into the Mastocytosis Research Study at the National Institute of Health in Maryland. Our peditrician and even our pediatric dermatologist have sent in the referral.
Candice had her first tryptase level checked upon the NIH saying that they would only accept her into their program if it was 20 or higher. Her's came back at a level of 18. So she was not accepted into their program and she is not considered systemic (which is good news). Candice has had some signs of it going systemic with chronic diarrhea for months on end and massive stomach cramps.
In my research of mastocytosis I came across The Mastocytosis Society web page. They have Dr. Akin listed as doing research on mastocytosis at the University of Michigan. His contact information was on the site. I contacted Dr. Akin regarding Candice and told him her story. He told me that we could have our doctor contact him and that he would aid in her care! What a wonderful man!
We took Candice to an allergist/immunologist and he contacted Dr. Akin regarding her care for mastocytosis. She was then put on allegra twice a day, zantac twice a day, singular once a day, gastrocrom 4 times a day, atarax for emergency use (when she has an episode/flare up) and we were given an epi pen jr. for emergency use as well. Upon making these medication changes Candice has had great improvement! She still has episodes and flare ups but they have lessened with the use of these medications, and the diarrhea and stomach cramps are much better now as well!
Candice is currently seeing a pediatric dermatologist at UTMB Pediatric Specilist clinic in Clear Lake, TX. Houston area. She goes in every 2 months for blood work to be done to test her tryptase level and her organs for any sign of systemic mastocytosis. She may be referred to an oncologist/hematologist at a later date.
Candice has to have her temperature maintained at about/around 68-71 F. She cannot get too hot or too cold. Any time that she runs a fever for teething or an illness it also causes a masto reaction/flare up. We have to watch what foods she eats because some like strawberries and tomatoes can cause a reaction in her. Also, we do not want her to get stung as this cause a reaction/flare up as well. We have to monitor her to make sure that if the medications are not working when she has a reaction/flare up because she could go into anaphylaxis.
I am writing this, our story of our daughter to inform other of Mastocytosis and to emplore you to please help to spread awareness, help to raise funds for research so that we can find a CURE, and also to help to provide support and hope to those families that are trying to live life to the fullest with this extremely rare and extremely unknown disease.
This disease is life threatening and those that have it require special care. It's a difficult disease to say the least and not enough is known about it.
It is a very serious disease and should not be taken lightly!
For more information, please visit:
www.caringbridge.org/visit/candicegalton
www.tmsforacure.org
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