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DeborahW, Founder
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(Archived post from original forum - author kgruba)
I am new to this forum and can only hope that I am setting this up in the correct category. I also posted it under the category of Parents of Mast Cell Disorder Children in hopes of getting more activity in that category as my personaI research has led me to believe there is not enough communication and information on the sites for children. And this site has given me "boundless" information regarding MCAD and I can only hope that my post will somehow draw other parents to this site so they can better educate themselves and get the support of others as this site has done for me. I have been utilizing this Forum for about a week now and have learned more from this Forum than I have in my 4 months of researching MCAD on the Internet. I am in search of answers for my 8 year old daughter and until I found this site I was feeling really hopeless as I kept hitting brick walls. There are MANY strong, supportive, helpful and knowledgable people here! Words can't express the gratitude I have for the couple of people who have helped me thus far. They are dealing with their own disease process and symptoms and yet they have taken a lot of time to respond to my emails, give me encouragement, support, advice and even went above and beyond to help me connect with the right doctors that can maybe help us get answers for my daughters symptoms. My daughter is 8 years old and although her doctors and myself wrote off the causes of her early symptoms as "unknown" , "viral", etc. I am now putting the pieces of the puzzle together. She has had problems from some sort of disease process since birth. These symptoms were pretty significant from birth to a few years of age. They then seemed to "simmer" for a couple of years... only to show their ugly head full force about 2 1/2 years ago. It has progressed significantly since then. She now has a total of 10 doctors treating all of the different body / system areas that are involved. Talk about frustrating! How do they piece anything together when out medical system is so fragmented? Although Brieann's current diagnosis is Chronic Urticaria and a very rare diagnosis of Neutrophilic Eccrine Hydradenitis (which involves ONLY the fingers and palms of her hands on 7 different occassions). We do not yet have a Unifying diagnosis that will tie ALL of her symptoms together. I have spent hundreds upon hundreds of hours researching her symptoms and it was not until June 2010 that I stumbled across MCAD. I about fell out of my chair as this was the first time I found a disease process that fit everything she goes through. I later found this forum and again was amazed at reading all of the different personal stories as each time I read them I felt that they were personally describing my daughters symptoms. I know this entry is becoming very lengthy but I wanted to get Brie's story out there in hopes that there are some parents, family or loved ones of a child that can relate to this story and either be helped by this information, share their experience or give some advise to how I can best help my daughter. The following is a shortened outline (although still very long) as to what my daughter has experienced: *** Since birth Brie has had abdominal distention; abrupt stomach pains; nausea; vomiting; bloating; lack of or loss of appetite; diarrhea; and intestinal cramping and she is extremely gassy. This can even awaken her from sleep. Many of her stomach aches are so severe that I consider taking her to ER to be assessed for a ruptured appendix. This had gotten to the point that for 1 1/2 years they would occur DAILY and up to 15 times a day. This cycle was not broken until after adding a steroid to her medication regime.
*** Since 6 weeks of age Brie has experienced "flare and wheal" type hives. These later developed into more severe hives. She also began to develop several other types of rashes and outbreaks (Petechia that would bleed and then change into large hives and then repeat the same process over and over for 2 months; also flushed face / cheeks; Neutrophilic Eccrine Hidradenitis nodules to only the fingers and palms of the hands; different types of rashes; skin and scalp itching with nothing visibly present, etc.). Once week after being hospitalized for Metabolic Acidosis (of unknown cause) Brie began to break out with different dermatological outbreaks EVERY DAYfor 6 straight months. We were unable to break this cycle until she was started on a steroid for her GI concerns. She has been diagnosed with Chronic Urticaria. I also find it interesting that many times Brie will often experience the "Darier Sign."
*** Brie has experienced chronic headaches over the last 2 1/2 years. Some of these are so severe in that she flails around on the floor screaming and crying from the pain. (but most are much less severe).
*** She has bouts of "dizziness" and light headedness
*** She had problems with anemia as a small child and then again over the last year.
*** Brie went through a period of time with night time sweats and night time fevers which would resolve spontaneously by morning (these have been within the last 2 1/2 years but are not current)
*** Brie experiences episodes of a croupy / barky cough that resolves spontaneously and yet she does not have an URI or any other infection at the time.
*** She has medically documented episodes of acute hypoxia, night time hypoxia, lethargy and confusion
*** She has had problems with possible sleep apnea - although she has had a T&A and x-rays are negative for any physical blockage
*** Beginning in 9/09 she began complaining several times of "her heart hurting and that it feels like it is jumping out of her chest" along with tachycardia. On 10/23/09 she was diagnosed with a heart murmur that the Dr's feel is benign (she has not had a cardiac work up for this). She has medical documentation of tachycardia and night time tachycardia.
*** Brie has developed over the last 2 years episodes of urinary frequency, urgency and sporadic day and night time wetting. All UA's have been negative. She has had WBC's in her urine at times and yet there are not other signs of infection.
*** Brie gets white sores on her gums and this is at times accompanied by a white exudate.
*** Brie has always shown some concerns regarding academic achievement. But as of the later part of the last school year and now this school year these concerns have become of great concern.
*** Although I could not find any correlation between NEH and MCAD none of Brie's doctors can not explain why she has had 7 episodes of NEH that has been strictly localized to her palms and fingers. The NEH was confirmed by 2 separate biopsies and the biopsies also show Granulomatous infiltrate with histiocytes, lymphocytes and neutrophils.
*** She was hospitalized with acute hypoxia and respiratory distress with no definitive diagnosis
(? pneumonia although she was not ill before this very sudden acute onset)
*** She was hospitalized for acute Metabolic Acidosis and dehydration (in which no cause was found) and this occurred 3 days after she was "overhydrated" per results of a UA and no changes had been made to her fluid intake.
*** Although I am told that her steroid (Entocort) is 60% absorbed in the colon and "has little to no affect systemically" it has proven to significantly reduce ALL of her systemic symptoms and once again none of her doctors are able to explain this to me.
*** Since birth Brie has always been of a short stature. This has always been a concern of mine due to her GI problems and anemia I have always questioned absorption problems. She is 8 years old and most 5 and 6 year olds are bigger than she is. She can wear the same clothes for 3 years in a row!
*** Brie complained of pain in her feet for 1 1/2 years but most recently she complains of her bones or joints hurting anywhere in her body.
*** Brie has reoccurring episodes of extreme tiredness. During these periods she can nap for 2-4 hours a day and still be tired at bedtime. She will sleep (9 - 12 hours a night) throughout the night and then awaken tired in the morning. She often even reports that she was tired or fell asleep in class.
*** Brie has had Anesthesia on 2 occasions and both times appears to have reacted to this.
*** In the last few months when she receives a minor scratch to her skin she develops a thick type scar.
*** Brie's symptoms decrease significantly when placed on a medication regime of Antihistamines, Stomach Medicine and Steroids.
Throughout Brieann's last few years of medical care I find that the following findings may be significant:
Lymphoid Hyperplagia of the colon; mild chronic inflammation of the colon and stomach; Active gastritis and mild chronic gastritis; Platelets, C-Reactive Protein, Esenophils, Leukocytes and Lymphocytes have all at times been elevated; WBC's in the urine and elevated serum WBC's and yet no other signs of infection; slightly reduced red cell volume and slightly elevated red cell distribution; markedly reduced Ferritin level; increased urine osmolarity and trace urine hemoglobin; positive biopsies for NEH
The following is a list of things that she has been negative for or have so far been medically ruled out:
Negative ANA; IGM and IGG; H-Pylori; Chronic Strep; UTI's; Diabetes; Negative urine and blood cultures; DFA's for the flu; Celiac Disease; Systemic and Cutaneous Vasculitis; Normal Pyrufic Acid; Chrohn's Disease; Negative abdominal and Pelvic Ultrasounds; Negative Upper GI with Barium; Negative for Immune response to milk protein, casein and whey; Negative for Autoimmune Disease (per skin biopsy); Hydronephrosis; Ulcerative Colitis; Irritable Bowel Disease; allergy to milk, soy and wheat; negative labs for Mastocytosis; No evidence (per labs) of pancreatic, liver or kidney disease; Whipples Disease; Giardia; Peripheral blood smear is essentially normal with "an occasional reactive appearing lymphocyte present"
Brieaann's concerned Mom / Kim
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