Aa
2 year old with Addison's and autoimmune
Hello, I am looking for any help I can get. My daughter who will be three next month, was just diagnosed with Addison's disease. I haven't been able to find anything regarding a child of her age with this disease. She also had a high TSH level and further blood work showed thyroid antibodies.
Here is a little back ground. At 7 months, April 2006, she was hospitalized for strep pneumo and possible bacterial meningitis. She was pink and a little chubby. By 9 months, she was all over tan. Sep 2006 she had here first seizure. She was seen by a neurologist and was placed on Trileptal. Jan 2007, she had a throat infection and wasn't eating very good. The next morning my husband found her in her crib unresponcive. She was rushed to the local ER. She was having a seizure. After an hour of failed attempts to get an IV in ( she was too dehydrated), they placed an IO in her lower leg. Once able to get blood drawn, they came back in and said her blood sugar was 14!!! We were seen by a endo in the hospital and she said Olivia seemed to have ketotic hypoglycemia. She had ketones in her urine. We followed up and a metabolic geneticist as well as the endo. The endo then felt that we didn't need to see her any longer b/c it wasn't a growth hormone issue, or a insulin problem. May 2007, I discovered she had blue/black patches on her tongue. None of her doctors could pinpoint a cause. Olivia continued to have problems with blood sugar. Usually in the morning, and usually while sick. After seeing a geneticist at Shands in Gainesville, and him asking if any adrenal blood work had been done, we started to do some research at home. We came across Addison's Disease. We were convinced that was what it was after reading about the hyperpigmentation. I took her to her pediatrician and she referred us to another pediatric endocrinologist. The very next day after seeing the pediatrician, Olivia woke up with a blood sugar of 34. She was hospitalized for three days and after me requesting an ACTH test, she was diagnosed. In fact it had been Addison's!
Now I don't know where to go. I would like her to see a doctor with experience with a child of her age and Addison's disease with Autoimmune.
Here is a little back ground. At 7 months, April 2006, she was hospitalized for strep pneumo and possible bacterial meningitis. She was pink and a little chubby. By 9 months, she was all over tan. Sep 2006 she had here first seizure. She was seen by a neurologist and was placed on Trileptal. Jan 2007, she had a throat infection and wasn't eating very good. The next morning my husband found her in her crib unresponcive. She was rushed to the local ER. She was having a seizure. After an hour of failed attempts to get an IV in ( she was too dehydrated), they placed an IO in her lower leg. Once able to get blood drawn, they came back in and said her blood sugar was 14!!! We were seen by a endo in the hospital and she said Olivia seemed to have ketotic hypoglycemia. She had ketones in her urine. We followed up and a metabolic geneticist as well as the endo. The endo then felt that we didn't need to see her any longer b/c it wasn't a growth hormone issue, or a insulin problem. May 2007, I discovered she had blue/black patches on her tongue. None of her doctors could pinpoint a cause. Olivia continued to have problems with blood sugar. Usually in the morning, and usually while sick. After seeing a geneticist at Shands in Gainesville, and him asking if any adrenal blood work had been done, we started to do some research at home. We came across Addison's Disease. We were convinced that was what it was after reading about the hyperpigmentation. I took her to her pediatrician and she referred us to another pediatric endocrinologist. The very next day after seeing the pediatrician, Olivia woke up with a blood sugar of 34. She was hospitalized for three days and after me requesting an ACTH test, she was diagnosed. In fact it had been Addison's!
Now I don't know where to go. I would like her to see a doctor with experience with a child of her age and Addison's disease with Autoimmune.
Addison's disease is an endocrine or hormonal disorder that occurs in all age groups and afflicts men and women equally. The disease is characterized by weight loss, muscle weakness, fatigue, low blood pressure, and sometimes darkening of the skin in both exposed and nonexposed parts of the body.
Addison's disease occurs when the adrenal glands do not produce enough of the hormone cortisol and, in some cases, the hormone aldosterone. The disease is also called adrenal insufficiency, or hypocortisolism.
Cortisol
Cortisol is normally produced by the adrenal glands, located just above the kidneys. It belongs to a class of hormones called glucocorticoids, which affect almost every organ and tissue in the body. Scientists think that cortisol has possibly hundreds of effects in the body. Cortisol's most important job is to help the body respond to stress. Among its other vital tasks, cortisol
helps maintain blood pressure and cardiovascular function
helps slow the immune system's inflammatory response
helps balance the effects of insulin in breaking down sugar for energy
helps regulate the metabolism of proteins, carbohydrates, and fats
helps maintain proper arousal and sense of well-being
Because cortisol is so vital to health, the amount of cortisol produced by the adrenals is precisely balanced. Like many other hormones, cortisol is regulated by the brain's hypothalamus and the pituitary gland, a bean-sized organ at the base of the brain. First, the hypothalamus sends "releasing hormones" to the pituitary gland. The pituitary responds by secreting hormones that regulate growth and thyroid and adrenal function, and sex hormones such as estrogen and testosterone. One of the pituitary's main functions is to secrete ACTH (adrenocorticotropin), a hormone that stimulates the adrenal glands. When the adrenals receive the pituitary's signal in the form of ACTH, they respond by producing cortisol. Completing the cycle, cortisol then signals the pituitary to lower secretion of ACTH.
Aldosterone
Aldosterone belongs to a class of hormones called mineralocorticoids, also produced by the adrenal glands. It helps maintain blood pressure and water and salt balance in the body by helping the kidney retain sodium and excrete potassium. When aldosterone production falls too low, the kidneys are not able to regulate salt and water balance, causing blood volume and blood pressure to drop.
Symptoms
The symptoms of adrenal insufficiency usually begin gradually. Characteristics of the disease are
chronic, worsening fatigue
muscle weakness
loss of appetite
weight loss
About 50 percent of the time, one will notice
nausea
vomiting
diarrhea
Other symptoms include
low blood pressure that falls further when standing, causing dizziness or fainting
skin changes in Addison's disease, with areas of hyperpigmentation, or dark tanning, covering exposed and nonexposed parts of the body; this darkening of the skin is most visible on scars; skin folds; pressure points such as the elbows, knees, knuckles, and toes; lips; and mucous membranes
Addison's disease can cause irritability and depression. Because of salt loss, a craving for salty foods also is common. Hypoglycemia, or low blood glucose, is more severe in children than in adults. In women, menstrual periods may become irregular or stop.
Because the symptoms progress slowly, they are usually ignored until a stressful event like an illness or an accident causes them to become worse. This is called an addisonian crisis, or acute adrenal insufficiency. In most cases, symptoms are severe enough that patients seek medical treatment before a crisis occurs. However, in about 25 percent of patients, symptoms first appear during an addisonian crisis.
Symptoms of an addisonian crisis include
sudden penetrating pain in the lower back, abdomen, or legs
severe vomiting and diarrhea
dehydration
low blood pressure
loss of consciousness
Left untreated, an addisonian crisis can be fatal.
Diagnosis
In its early stages, adrenal insufficiency can be difficult to diagnose. A review of a patient's medical history based on the symptoms, especially the dark tanning of the skin, will lead a doctor to suspect Addison's disease.
Stewart PM. The adrenal cortex. In: Larsen P, ed. Williams Textbook of Endocrinology. 10th ed. Philadelphia: Saunders; 2003: 491–551.
Chrousos GP. Glucocorticoid therapy. In: Felig P, Frohman L, eds. Endocrinology and Metabolism. 4th ed. New York: McGraw-Hill; 2001: 609–632.
Miller W, Chrousos GP. The adrenal cortex. In: Felig P, Frohman L, eds. Endocrinology and Metabolism. 4th ed. New York: McGraw-Hill; 2001: 387–524.
Ten S, New M, Maclaren N. Clinical Review 130: Addison's disease 2001. Journal of Clinical Endocrinology & Metabolism. 2001;86(7):2909–2922.
Williams GH, Dluhy, RC. Disorders of the adrenal cortex. In: Braunwald E, ed. Harrison's Principles of Internal Medicine. 15th ed. New York: McGraw-Hill Professional; 2001: 2084–2105.
The following organizations might also be able to assist with certain types of information:
American Autoimmune Related Diseases Association
National Office
22100 Gratiot Avenue
East Detroit, MI 48021
Phone: 586–776–3900
Email: ***@****
Internet: www.aarda.org
National Adrenal Disease Foundation
505 Northern Boulevard, Suite 200
Great Neck, NY 11021
Phone: 516–487–4992
Fax: 516–829–5710
Internet: www.nadf.us/
--------------------------------------------------------------------------------
National Endocrine and Metabolic Diseases Information Service
6 Information Way
Bethesda, MD 20892–3569
Phone: 1–888–828–0904
TTY: 1–866–569–1162
Fax: 1–703–738–4929
Email: ***@****
Internet: http://endocrine.niddk.nih.gov/
The National Endocrine and Metabolic Diseases Information Service is an information dissemination service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). The NIDDK is part of the National Institutes of Health (NIH), which is part of the U.S. Department of Health and Human Services.
The NIDDK conducts and supports biomedical research. As a public service the NIDDK has established information services to increase knowledge and understanding about health and disease among patients, health professionals and the public.
Publications produced by the NIDDK are carefully reviewed by both NIDDK scientists and outside experts.
This publication is not copyrighted. The NIDDK encourages users of this publication to duplicate and distribute as many copies as desired.
--------------------------------------------------------------------------------
This publication was written by NIDDK's Office of Health Research Reports and reviewed by Dr. George P. Chrousos, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and by Dr. Judith Fradkin, National Institute of Diabetes and Digestive and Kidney Diseases.
NIH Publication No. 04–3054
June 2004
Endocrine and Metabolic Diseases Home | Endocrine and Metabolic Diseases A to Z | Statistics | Clinical Trials | Additional Resources | Order Publications | About Us |
Contact Us | NIDDK Health Information
The National Endocrine and Metabolic Diseases Information Service is a service of the National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health.
National Endocrine and Metabolic Diseases Information Service
6 Information Way
Bethesda, MD 20892–3569
Phone: 1–888–828–0904
TTY: 1–866–569–1162
Fax: 1–703–738–4929
Email: ***@****
Internet: http://endocrine.niddk.nih.gov/
Addison's disease occurs when the adrenal glands do not produce enough of the hormone cortisol and, in some cases, the hormone aldosterone. The disease is also called adrenal insufficiency, or hypocortisolism.
Cortisol
Cortisol is normally produced by the adrenal glands, located just above the kidneys. It belongs to a class of hormones called glucocorticoids, which affect almost every organ and tissue in the body. Scientists think that cortisol has possibly hundreds of effects in the body. Cortisol's most important job is to help the body respond to stress. Among its other vital tasks, cortisol
helps maintain blood pressure and cardiovascular function
helps slow the immune system's inflammatory response
helps balance the effects of insulin in breaking down sugar for energy
helps regulate the metabolism of proteins, carbohydrates, and fats
helps maintain proper arousal and sense of well-being
Because cortisol is so vital to health, the amount of cortisol produced by the adrenals is precisely balanced. Like many other hormones, cortisol is regulated by the brain's hypothalamus and the pituitary gland, a bean-sized organ at the base of the brain. First, the hypothalamus sends "releasing hormones" to the pituitary gland. The pituitary responds by secreting hormones that regulate growth and thyroid and adrenal function, and sex hormones such as estrogen and testosterone. One of the pituitary's main functions is to secrete ACTH (adrenocorticotropin), a hormone that stimulates the adrenal glands. When the adrenals receive the pituitary's signal in the form of ACTH, they respond by producing cortisol. Completing the cycle, cortisol then signals the pituitary to lower secretion of ACTH.
Aldosterone
Aldosterone belongs to a class of hormones called mineralocorticoids, also produced by the adrenal glands. It helps maintain blood pressure and water and salt balance in the body by helping the kidney retain sodium and excrete potassium. When aldosterone production falls too low, the kidneys are not able to regulate salt and water balance, causing blood volume and blood pressure to drop.
Symptoms
The symptoms of adrenal insufficiency usually begin gradually. Characteristics of the disease are
chronic, worsening fatigue
muscle weakness
loss of appetite
weight loss
About 50 percent of the time, one will notice
nausea
vomiting
diarrhea
Other symptoms include
low blood pressure that falls further when standing, causing dizziness or fainting
skin changes in Addison's disease, with areas of hyperpigmentation, or dark tanning, covering exposed and nonexposed parts of the body; this darkening of the skin is most visible on scars; skin folds; pressure points such as the elbows, knees, knuckles, and toes; lips; and mucous membranes
Addison's disease can cause irritability and depression. Because of salt loss, a craving for salty foods also is common. Hypoglycemia, or low blood glucose, is more severe in children than in adults. In women, menstrual periods may become irregular or stop.
Because the symptoms progress slowly, they are usually ignored until a stressful event like an illness or an accident causes them to become worse. This is called an addisonian crisis, or acute adrenal insufficiency. In most cases, symptoms are severe enough that patients seek medical treatment before a crisis occurs. However, in about 25 percent of patients, symptoms first appear during an addisonian crisis.
Symptoms of an addisonian crisis include
sudden penetrating pain in the lower back, abdomen, or legs
severe vomiting and diarrhea
dehydration
low blood pressure
loss of consciousness
Left untreated, an addisonian crisis can be fatal.
Diagnosis
In its early stages, adrenal insufficiency can be difficult to diagnose. A review of a patient's medical history based on the symptoms, especially the dark tanning of the skin, will lead a doctor to suspect Addison's disease.
Stewart PM. The adrenal cortex. In: Larsen P, ed. Williams Textbook of Endocrinology. 10th ed. Philadelphia: Saunders; 2003: 491–551.
Chrousos GP. Glucocorticoid therapy. In: Felig P, Frohman L, eds. Endocrinology and Metabolism. 4th ed. New York: McGraw-Hill; 2001: 609–632.
Miller W, Chrousos GP. The adrenal cortex. In: Felig P, Frohman L, eds. Endocrinology and Metabolism. 4th ed. New York: McGraw-Hill; 2001: 387–524.
Ten S, New M, Maclaren N. Clinical Review 130: Addison's disease 2001. Journal of Clinical Endocrinology & Metabolism. 2001;86(7):2909–2922.
Williams GH, Dluhy, RC. Disorders of the adrenal cortex. In: Braunwald E, ed. Harrison's Principles of Internal Medicine. 15th ed. New York: McGraw-Hill Professional; 2001: 2084–2105.
The following organizations might also be able to assist with certain types of information:
American Autoimmune Related Diseases Association
National Office
22100 Gratiot Avenue
East Detroit, MI 48021
Phone: 586–776–3900
Email: ***@****
Internet: www.aarda.org
National Adrenal Disease Foundation
505 Northern Boulevard, Suite 200
Great Neck, NY 11021
Phone: 516–487–4992
Fax: 516–829–5710
Internet: www.nadf.us/
--------------------------------------------------------------------------------
National Endocrine and Metabolic Diseases Information Service
6 Information Way
Bethesda, MD 20892–3569
Phone: 1–888–828–0904
TTY: 1–866–569–1162
Fax: 1–703–738–4929
Email: ***@****
Internet: http://endocrine.niddk.nih.gov/
The National Endocrine and Metabolic Diseases Information Service is an information dissemination service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). The NIDDK is part of the National Institutes of Health (NIH), which is part of the U.S. Department of Health and Human Services.
The NIDDK conducts and supports biomedical research. As a public service the NIDDK has established information services to increase knowledge and understanding about health and disease among patients, health professionals and the public.
Publications produced by the NIDDK are carefully reviewed by both NIDDK scientists and outside experts.
This publication is not copyrighted. The NIDDK encourages users of this publication to duplicate and distribute as many copies as desired.
--------------------------------------------------------------------------------
This publication was written by NIDDK's Office of Health Research Reports and reviewed by Dr. George P. Chrousos, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and by Dr. Judith Fradkin, National Institute of Diabetes and Digestive and Kidney Diseases.
NIH Publication No. 04–3054
June 2004
Endocrine and Metabolic Diseases Home | Endocrine and Metabolic Diseases A to Z | Statistics | Clinical Trials | Additional Resources | Order Publications | About Us |
Contact Us | NIDDK Health Information
The National Endocrine and Metabolic Diseases Information Service is a service of the National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health.
National Endocrine and Metabolic Diseases Information Service
6 Information Way
Bethesda, MD 20892–3569
Phone: 1–888–828–0904
TTY: 1–866–569–1162
Fax: 1–703–738–4929
Email: ***@****
Internet: http://endocrine.niddk.nih.gov/
Hi ! I'm sorry to hear about all of the health problems your daughter is having. I can't really help you, but I can give you a link to MedHelp's pediatric endo board. There is a physician who answers questions there regularly. I would recommend posting everything, including your daughter's lab results because the physicians tend to only post once and no more than once.
http://www.medhelp.org/forums/show/173
Good luck !
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