ENTRY # 26 - BARBARA'S STORY- A Son's Diagnosis

With permission granted, below you'll find a pasted section of an email that I received from a mother who has a son with adrenal insufficiency. The diagnosis for their son was rough going. They still have struggles, especially because a child often does not fully comprehend their own symptoms; kids usually do have difficulty sorting through and explaining their physical troubles. Often, these families are not given adequate urgent-intervention training and education that could help with future Addison's complications...such as a cold, broken foot, etc., Unfortunately, the seriousness of this disease is not conveyed or completely understood until it hits home with shocking consequences. As I always say, this disease is so rare that the details are difficult to absorb, especially upon initial diagnosis ---- we just don't hear enough about Addison's disease to be sufficiently comfortable with its sneaky aspects.

Support groups and websites are wonderful, but they are not a substitute for good medical care and intervention. Let's face it...after getting a diagnosis, you need a serious care plan with a medical professional who can effectively inform the patient and their family about their new condition and give life-saving data. Too often, this information is brushed over by medical personnel with a detached attitude associated with processing paperwork.

Ideally, it would be awesome to have a medical team, upon diagnosis, provide an initial consultation with the packet of patient information from the National Adrenal Diseases Foundation (NADF) or something similar. Personally, I had received valuable information upon my diagnosis ten years ago by an awesome Addison's group in the U.K. Of course, those were different times with much less readily accessible information. Still, it is sad to see that compelling intervention upon initial diagnosis is still, mostly, inadequate. For parents of a child with adrenal insufficiency, this can be a nightmare. As an Addison's patient, I can appreciate how daunting it must be to look at your sick child and try to assess their adrenal insufficiency needs. There is not a solid "at-home" test to confirm an Addison's crisis is underway. A variety of generalized symptoms can cloud the situation. The onset of a crisis can be slow or sudden. There might be multiple symptoms or barely a noticeable hint that trouble is approaching. Then, parents are also concerned about over-medicating which can indeed cause an entirely different set of problems. Certainly, the day-to-day management of this disease by many parents is not a cinch. The balancing act, based upon each child's individual needs and changing situations can be a puzzle. To these parents, I tip my hat to you and hope you realize that you are a daily hero.

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BARBARA'S EMAIL

Lana, this is an email I have from a year or so ago. I am at work so I thought I'd just shoot this off to you so you can get a general idea of how Zac was diagnosed. He is 11 now, does - about 1 day hospital stay a year.

This is how it all came about for us.

History: 2007
Zac has been complaining of stomachaches over the past few months off and on, initially we took him to our pediatrician and visibly he couldn't see anything wrong with him, maybe he's got a virus, maybe it's constipation, nerves, etc. We gave him some milk of magnesia and the stomachache went away. About two weeks later, he complains again and this time, he's doubled over in pain, he's lightheaded and is having trouble walking. We call our pediatrician and ask that he do blood work and take x-rays, our instincts say something is not right.

Zac on a family vacation during Summer 2007.
Within months, by December 2007, he was diagnosed with Addison's disease.

The x-rays show that he is constipated and his blood work comes back with some questions, his thyroid levels are off, his blood sugar is low, his sodium is low and 3 of the 5 pointers for Celiac are positive. We give him some more milk of magnesia and his stomachache goes away. The pediatrician asks us to redo the blood work in a week; the thyroid results are still abnormal so he refers us to an endocrinologist at Mass General in Boston. His blood sugar and sodium levels seem to have normalized, however, the celiac results are still the same.

We saw the endocrinologist on November 30th and she diagnosed Zac with hypothyroidism. Zac will take levothyroxine on a daily basis for the rest of his life. She also mentions the celiac results and tells us we should make an appointment with a Gastroenterologist and they can do a scope to get a definitive answer. Celiac is a wheat intolerance, and is controlled by diet. We have an appointment scheduled for January 22, 2008.

(Before they can get Zac to the appointment with the Gastroenterologist, they have

a terrible, close-call experience...)

On Thursday, December 13th Zac comes home from school complaining of his stomach again so we start him with the milk of magnesia on Friday after school and it really knocks him out, he's very lethargic, tired, starting to get a cold so he's got a dry cough and spends most of the weekend in bed and the bathroom.

Sunday night a little after midnight I awoke to him whimpering, I went over to check on him and he is flat on his back, stiff with his eyes wide open. He is non responsive to my voice and talking to him, I yell to Chuck (my husband) who in turn comes over and I run for the phone to call 911. His breathing was very shallow and actually stopped breathing a few times, so Chuck gave him a few breaths.

The ambulance, Emt's show up very quickly and can't get him to respond either. They try and take his blood sugar and get no reading at all, so they gave him something and he responds. The ambulance takes us to Lawrence General Hospital in Lawrence to stabilize him and then we were transferred to Mass General. They took all sorts of blood, x-rays, etc and had diagnosed Zac with Addison's disease within hours. Zac spent 4 days in ICU and went home on the 5th day.

Zac will take 2 different steroids 3 times a day to replace the steroids that his body doesn't produce.

Zac - Immediately after his hospitalization & diagnosis of Addison's.

Zac had a cold Feb 08 which landed him in the hospital overnight because he had strep and needed fluids through an iv, all started as a normal cold. I didn't increase his meds cuz was told not to unless he had a fever. Then the day he had a fever I called and they told me to give him his meds through the injection, solucortef, which I did and he did still ended up in the hospital the next day.

Then last week starts with a sore throat, had him tested for strep which was negative, didn't increase his meds cuz rules say, fever and vomiting is reason for increased dosage, Saturday he was complaining of bad stomach pain and now had a fever so we took him to the ER, they gave him his meds through an IV and he was better within hours, at that point they told us to double his meds for the duration of the cold.

It is absolutely a gut feeling and we are learning that. I belong to a group for Addison's on the Internet, but it's primarily woman, one woman has a son (11 years old) who has it but he's not being treated with hydrocortisone so her experiences are a little different. But I have learned a ton from them. Zac has started to complain of stomachaches periodically again, so we wonder if he's not being medicated properly. We had him at the Dr yesterday and they want us to do bloodwork in a week, and they will recalculate his dose but her gut feeling is that something else might be going on, specifically celiac. He did have the endoscope in January but the biopsy didn't show he had it, but the bloodwork did, so the GI was thinking he might be in the early stages. So we are just waiting to do that at this point. Zac can communicate with us so that is helpful, but he's also 9 years old so sometimes hunger pains get confused with other stomach pain.

Since this time he has had tests for all stomach issues and ruled everything out so we have come to the conclusion it's stress (Addison's) for him.


Zac - 1st day of school in 2010 - 6th grade!!



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If you have a story, please email it to FindingLana@yahoo.com with your written permission to post and I will put it on this site with a dedicated title. You may also email a couple of pictures to post along with your story. Follow ups and updates are also welcomed; just email with persmission for me to post. Your story and updates will also be open to all comments so you CAN communicate with others about your own story by making ongoing comments.

Keep focused, be encouraged, and remember that you do make a difference!

Sincerely, Lana C.