This is an additional email from him that follows his "red" and "blue" email:


Just found the lab reports from 6/16/08 drawn at 0930.  Sabrina's CBC was completely normal insofar as "anemia" is concerned with normal hemoglobin, hematocrit, and smear.  The chemistry panel was normal.  The lipid panel showed an increased LDL (bad) cholesterol and a pretty good HDL (good) cholesterol.   The iron studies were normal.  The thyroid tests were all normal (including TSH receptor antibody which is the similar to the TSI), except, as you know, the ATGA.  The TSH was there and was normal.
 
(His initials, omitted for now)

The following is what I very angrily wrote to him after this second one and his "red" and "blue" email:

Dr. (omitted),

Sabrina's TSH of 4.014, by the new standards of the AACE, would be high, and mine would be considered high/normal. The National Academy of Clinical Biochemistry, and The American Association of Clinical Endocrinologists adopted in 2003 the new levels of 0.3-3.04. It is expected to go as low as 2.5 for the high in the future. The lab "Quest Diagnostics" still uses the old ranges, but the lab, "Lab Core" states, "TSH concentrations below 5.5 do not rule out the presence of subclinical hypothyroidism". TSH over 2.5, must be seriously considered when symptoms are present, especially considering the "target range" when being treated for hypothyroid is less than 2.0, and often times, much less than 1.0 for most patients. People feel differently at different TSH levels, we are not all the same, just as all Hashi's victims do not present with the same symptoms.

Based on your one comment about my diagnosis, I assume you missed the part in paragraph two where I typed in that I have had two FNA's (Fine Needle Aspirations/Biopsies) that have confirmed Hashi's along with my significantly enlarged thyroid/goiter. My goiter is not only felt, but seen, and is a firm goiter, just as is seen in Hashi's. I have two solid nodules 1.4 cm, and 1 cm. Endocrinologists treat my kind of symptoms, and give thyroid hormone to prevent more nodules from growing, and to prevent the ones you have from growing larger. Hashimoto's increases your chances of thyroid cancer and heart attack (high LDL). The weight I could not lose, the pain, and other symptoms, are disappearing since I have been on medication for 6 weeks now. I hope eventually my hair will grow back as thick as it was. The life that I had lost, is slowly being returned to me with one simple half a pill every day. I hate taking pills, but I was very sick, and my symptoms were getting significantly worse. I believe some of us suffer greatly because a lot of doctors look at test ranges and not the whole patient. We are "pieces of paper with numbers" and our unseen symptoms are "in our minds" or "some other cause" they cannot find or cure, as you have suggested with the constipation, which is a common symptom. I am not focusing on her constipation, I am looking at the whole child, all symptoms, all tests. Some of us won't fit the textbook lab ranges, and that is true of me. This is why I went undiagnosed for so long, and it has taken two biopsies to prove it. 

I understand about ONH kids and growth. Since Hashi's can be inherited, and is not necessarily related to ONH, still, it is interesting. Hashi's is the disease, hypothyroidism is the result. Thus, I feel it is a mistake not to do both antibodies tests in all hypothyroidism cases, based upon numerous studies. Again, she is the only female in our families that has started puberty at age 8.5. The rest started at 11+. 

From the AACE:

 "Undiagnosed hypothyroid children may experience slowed growth rate", not always.

"ANTITHYROID ANTIBODIES 
Increased antithyroid antibodies provide the most specific 
laboratory evidence of Hashimoto’s thyroiditis, but they are 
not present in all cases.

Fine-needle aspiration of the thyroid—usually not 
 necessary for most patients with Hashimoto’s thyroiditis, 
 but a good way to diagnose difficult cases and a necessary 
 procedure if a thyroid nodule is also present. " 

Once you have nodules over 1 cm found in ultrasounds, Dr. (omitted), FNA is the next step. I had to have two, thus, a "difficult case". This is why I know I have Hashimoto's, as well as 3 pathologists, and one endocrinologist confirming it. I have not shared my entire symptom list with you, suffice it to say it IS very obvious that I have Hashi's, with or without the medical confirmations I have received. You said, "many people likely have Hashimoto's thyroiditis and don't know it". This is true, either because it has not progressed enough for them to notice symptoms, or because they don't know that their symptoms are that of Hashimoto's, and because like me, they were treated for the symptoms of Hashi's for 17 years (or longer), but no one recognized them as Hashi's, until a goiter showed, symptoms worsened, and new symptoms presented themselves.

I have copied your second email about her labs: 

"Just found the lab reports from 6/16/08 drawn at 0930.  Sabrina's CBC was completely normal insofar as "anemia" is concerned with normal hemoglobin, hematocrit, and smear.  The chemistry panel was normal.  The lipid panel showed an increased LDL (bad) cholesterol and a pretty good HDL (good) cholesterol.   The iron studies were normal.  The thyroid tests were all normal (including TSH receptor antibody which is the similar to the TSI), except, as you know, the ATGA.  The TSH was there and was normal.
 
(omitted his initials)

Here are the facts for you:

Ferritin is THE test for Hashimoto's iron absorption issues. If your ferritin is on the low end, this is what they look for. Both my daughter and I are 13 and 15, range 10-232. I take iron supplements, she does not. The iron test you mentioned does not apply to what the Hashi's is doing to her iron stores, only the ferritin does. Many Hashi's victims have low ferritin until their disease is treated. When she was being treated for anemia, they did not use a CBC to monitor her. They used the ferritin test to watch the iron supplement raise her iron stores. Here is that information for you:
"The ferritin test is ordered to see how much iron your body has stored for future use. The test is done, usually with an iron test and the TIBC, to learn about iron levels in your blood. Ferritin is the best test for iron deficiency and a very good test for iron overload."

Unless TSH is different for adults than children who are 99 pounds and 5'3", hers is high, and out of the current range that you will see adopted everywhere in the next few years, as mentioned above. Sabrina doesn't have the time to wait until all labs decide to change their paperwork, and all doctors get the accurate information. Hashi's is very hard on your heart and many people suffer enlarged hearts due to their untreated disease. An increased out-of-range LDL is also what they look for in Hashi's. This is a top symptom. Her last two LDL's have been high, as her symptoms have been increasing. Her constipation has been occurring since birth. I nursed Sabrina for over a year and a half. It was not her diet or mine that caused it. As an infant she screamed in pain with bowel movements. The doctors blamed my diet as a nursing mom. I changed it, and the constipation continued. When nursing ceased, constipation continued. This is plunging-the-toilet constipation. She was a toddler who held it in out of fear of pain. Doctors recommended a change in diet and suppositories, it persisted. To this day she remembers the pain at age 3. More water, more this, less of that, we have tried it all, and it persists, this is Hashimoto's. The moodiness I am talking about as an infant was quite severe, it persists, this is Hashimoto's, this is hypothyroidism. At times, she has diarrhea, this is Hashimoto's in its hyperthyroid stages when the thyroid decides to work too much.

TSI, you said, "not without hyperthyroidism", that is most of the time, but here is more accurate information for you: "Thyroid-Stimulating Immunoglobulins (TSI), TSH stimulating antibodies (TSAb)
Thyroid-stimulating immunoglobulins (TSI) can be detected in the majority - some estimates say as many as 75 to 90 percent - of Graves' disease patients. The higher the levels, the more active the Graves' disease is thought to be. (The absence of these antibodies does not, however, rule out Graves' disease.) Less commonly, some people with Hashimoto's disease also have these antibodies, and this can cause periodic short term episodes of hyperthyroidism." This is why I asked about a TSI. I suffer from this less common problem, and it can make your TSH appear normal when you vacillate back and forth from hyper to hypothyroid. It can also make uniformed doctors think they need to raise or lower your medication. So, you make not think 2.77 is a concern, but that is where my other symptoms cannot be ignored. This is the mistake 7 doctors made. TSH is only a tool, there are others, and symptoms cannot be ignored where children's health is at stake. I will not get into the FT3 and FT4 debate here, suffice it to say, they are also affected by the hyper/hypo changes.

B12 deficiency, and low B12 are found with Hashi's, as is the inability to process beta carotene, which explains the color of Sabrina's skin. I noticed you did not address her skin color. Here is some information for you: "The conversion of beta carotene into vitamin A is driven by thyroid hormone. In hypothyroidism, beta carotene conversion to A is markedly decreased, resulting sometimes in a yellowish tint to the skin of a hypo who is consuming beta carotene rich foods."

I should not have to inform my doctors, or my children's doctors. I should not have to be reading medical dictionaries, research papers, hospital webpages, research college websites, and better, but I have learned this is common. I just did not expect it in you. It is essential that our daughter be treated and all her symptoms finally be recognized, and not dismissed as problems coming from elsewhere that are left untreated. I do not like the idea of thyroid hormone for my little girl, but if it is what she needs, I will not let her suffer as I did for so many years, and end up with a goiter, and life threatening disease. Yes, Hashi's kills, even when treated, it shortens lives. 

I am going to be very active in this area and take our story to the press, TV, internet, our insurance company, and whomever will listen. I looked to you for help, because we know something is terribly wrong with our daughter. We will fly to the moon to help her to have the energy and health of a normal 11 year old girl. If you ever take the time to read about this disease, you will find many stories like ours. The average Hashi's sufferer sees 6 specialists before they are properly diagnosed with their disease. Why is that? I'll tell you why, doctors today treat lab papers, not patients, and thyroidologists are rare (endos who specialize in thyroid only). I realize your specialty lies elsewhere, and if this were a pituitary problem, I expect you would see it right off. I am thankful to you for one thing, I did not spend the time, gas, or money to hear about lab ranges, and go home with my sick child (note to readers..she saw him 3 times!!!) , who is only getting more ill. 

I have two other daughters, as I have mentioned, and one is symptomatic (note to readers: both are symptomatic now, and one is too stubborn to get the right tests, often times mild or severe depression keeps Hashi's suffers from doing what is right for their health). I believe she has this disease, which means she had two doctors fail her during her recent pregnancy, when Hashi's can show up for some women. I believe she has had the symptoms since Sabrina's age, or just before. You are missing this, Dr. (omitted). Sabrina's tests prove it, her symptoms SCREAM it.

If I have irritated you, I am not surprised, I am used to being ignored, talked down to, and mistreated by doctors, but I can promise that you will hear about us, because: "Anger is a reaction to events and circumstances where we have been wronged, or feel we have been wronged. Anger is an important emotion, because it emerges from things and people we care about, it emerges because of the love we have. Sometimes there is a person or a societal structure to blame, and sometimes there is not. All the same, the anger that results from a painful experience can be the fire that ignites our compassion for others, and motivates our work in the world."

I won't contact you again, but you will know about us, because, "by definition" (your words), and fact, Sabrina does indeed have Hashimoto's, and she is very aware of it, as are we. Our story is worth telling, and a picture of an yellowish-orange colored child is worth a thousand words. Meanwhile, it is obvious that this is not your area of expertise, so I will cancel her appointment tomorrow. If I am wrong in this regard, and misunderstood your comments, well, I am not a doctor, but I sure knew what was wrong with me before pathologists confirmed it. Again, your email is what I have dealt with in doctor's offices for 17 years, Dr. (omitted). I realize informed patients, or those trying hard to get the right treatment, make many doctors uncomfortable. I am unconcerned with arrogance and pride, I want treatment for my daughter, we pay highly for it, both with our money, and she, with the quality of her life. 


Very concerned and determined mother,
Christine Kozak

The following is the response I received from the endocrinologist at Children's Hospital Los Angeles:


Mrs. (my last name):

I have taken the liberty to highlight in red what I think are your most salient points and key questions. My comments follow immediately in blue.

I am writing about my daughter Sabrina. I believe you have seen her three times now, the last being September 12, 2007. We were scheduled to see you in March 2008, but you told us that was only if we felt the need. Since we thought her fatigue was improving since her tonsillectomy in October 2007, and she was growing, we cancelled. However, the same problems have been occurring. She has a slight yellowish-orange color to her skin, with a heavier concentration around her mouth. She has extreme moods swings, fatigue, and constipation. The mood swings and constipation have always been an issue since she was an infant, but have worsened during puberty. Many things can cause mood swings and constipation, not just LOW thyroid, and, for low thyroid to be the culprit, the T4 or free T4 must be low. The most reproducible findings of children with hypothyroidism are slow height growth and mild excess weight gain. She, and we, have suffered dealing with these symptoms in some very difficult and embarrassing ways and we hope you can help us now that I have been diagnosed with Hashimoto’s thyroiditis (not sure how without either positive ATPA or ATGA - the latter not yet checked - or without a biopsy; ultrasound is suggestive, but non-specific; not sure why you are convinced you are hypothyroid without a low T4 or elevated TSH - a TSH of 2.77 is debatably ever so slightly increased or normal; again your symptom complex is non-specific, but I truly hope your treatment is beneficial), after many years of suffering. I have seen 8 doctors in the last 8 months; two neurologists for the fatigue, numbness and tingling, three general practitioners for the host of other symptoms, my gynecologist for the heavy menstruation, my ENT for swollen, infected parotid glands and painfully swollen lymph nodes, and an endocrinologist...finally. In the last 17 years of being treated for symptoms of the disease, and seeing an additional 10+ doctors who missed it, I now realize I have had symptoms since my teens. I had to hear at 42 years old that the weight I couldn’t loose over the past three years (20 pounds), the extreme fatigue, moodiness, constipation, low iron, dry skin, and as you know, a host of other symptoms a page long, was due to aging, not enough exercise, bad diet, hereditary, or in my mind. Since no one listened to me, frustration and angry tears finally led a doctor to give me an ultrasound. I told her after hundreds of hours of research, medical papers mostly, not junk websites, that I believed I had a thyroid problem, and I told her I felt almost certain that it was Hashimoto’s based on my symptoms, my extensive reading, and use of medical dictionaries, which I knew I only partially understood. She was not pleased with my self diagnosis, which I understand, because I am sure she deals with many patients who think they know, and are wrong. I told her I found a website that explained how to check my neck, and I discovered my enlarged thyroid, she reluctantly ordered an ultrasound with a shaking pen in hand saying, but you don’t want this diagnosis! No, I didn’t, but since my body has been with me so long, and I am not a paranoid hypochondriac, I knew better than she that I had something terribly wrong. I was sick and tired of taking the recommended supplements that changed nothing; the fatigue, the weight, the painful, swollen lymph nodes in my neck, etc. I was determined to find a doctor who would listen.

The road to a diagnosis began in April and I was finally diagnosed properly May 30. When I saw the first pathology report, I cried. I was happy I was diagnosed, and very upset that I was mistreated for so many years. “I told them so” was heard through my tears. It took two FNA’s to rule out cancer, the second being quite painful with 23 gauge needles, and I still have not had the one antibodies test that should have been done a while ago. I am more rare, I guess, because occasionally my thyroid works, but when it does, I am too hyper. In years past, I had bouts of being too thin. My husband told me to eat more, but I was eating the same. The weight would return when the fatigue did. I had a TSH of 2.77, the two times they even did that test in the past 8 months, which is questionable for hypothyroidism to a trained eye, but not scary, until you live in my body.

I believe it is possible that my untreated thyroid disease could have contributed to Sabrina’s brain development (untreated hypothyroidism during pregnancy is definitely associated with a mild reduction in the IQ of offspring, the exact mechanism being unclear - and there has yet to be any association shown with maternal thyroid disease during pregnancy). After all, no one knows yet what causes it, and isn’t it interesting that ONH is associated with thyroid disorders? The association is with the child's hypothalamus/pituitary not making enough TRH/TSH - with the thyroid being an innocent bystander not getting proper stimulation - which is completely different than Hashimoto thyroiditis where the thyroid becomes under autoimmune attack and the brain part works just fine. I also find it interesting that the baby is dependent upon mom’s thyroid 100% during that first trimester when the brain is developing, and the optic nerves are being formed. This is why I have informed Dr. Borchert’s study about my disease, and other parents of ONH kids. Guess what? Lots of emails are coming to me from moms who have my symptoms, who are now going to get the “right” tests, or moms who are now being told they have a thyroid condition that was present during pregnancy. Only further research will determine this, and seeing that there can be numerous factors, this may not be the only one they determine as a cause in the future, if at all. Still, it is interesting. Yes, it is.

I have learned on my own what tests to have done. Thankfully, Sabrina’s pediatrician did them, as I requested. Neither Sabrina, nor I, test positive for TPOAb, but Sabrina does test high for the one test they have not done on me yet; the antithyroglobulin antibodies; lab range 0-40, Sabrina 191. By definition, Sabrina has Hashimoto thyroiditis which just requires one or both antibodies to be positive with or without any effect on the thyroid hormones. many people likely have Hashimoto thyroiditis and don't know it. I am very interested what my advanced disease will show next month with this same test that I have requested from my endocrinologist. So, Dr. (blocked for now), we need you again! But this time, we have some new discoveries for you to help us with. We are wondering if her bones have fused yet (happy to check bone age), if she needs growth hormone for her moods and “feeling sad and not knowing why” (would have to GH testing first and find very low levels), or thyroid replacement hormone instead (not unless her levels were off - I don't see a TSH result down below and haven't yet gotten hard copies), to help bring her low iron back up, and help with the rest of her issues. Her ferritin is 13, in the lab range of 10-232, but low. Mine is 15 on iron supplements and I know it should be 80-100, but my Hashi’s keeps it down right now, as I am newly being treated (I am not terribly knowledgeable about iron problems, but what did her CBC show?). Hers would be best around 60 from what I was told years ago. Both of us have suffered from anemia at various times. She was treated for it at age 8 by her previous pediatrician, again, no one checked her thyroid, instead we were suspected as not feeding her an iron rich diet! The poor girl became obsessed with reading boxes and cans to see how much iron was in them. You can imagine our frustration, but at the same time, I am happy we can proceed from here, and hopefully help her to feel better, as I am slowly, with the help of medication (if she needs that now).

I have discussed our new findings with Dr. Borchert’s research assistant Cassandra Fink. I have learned that these antibody tests are not routinely performed on ONH kids in their study, usually the TSH, free T4, and free T3 are done (true because the hypothyroidism that typically occurs is central and not autoimmune. No one diagnosed me by those tests. If there are any tests we need to have done before we bring Sabrina to see you, let me know, and I will have my pediatrician order them. Her cholesterol has been higher than usual the last two times it has been checked, especially the LDL, as is mine, and this is considered a symptom (were they checked fasting - means nothing otherwise and most commonly is abnormal if family genetics are similar) from what I know, but this is why we need you, to sort all this out and help her feel better. Do we need to bring an x-ray (bone age - go for it)? B12 blood-work (once again, not an expert in this, but feel free)? My B12 is low, but not terrible. TSI (not without HYPERthyroidism)? We are scheduled to see you July 28th and look forward to seeing your smiling face again, especially now!

I had our pediatrician fax over the complete panel for you after I spoke with Janet, but for now here are some of her tests results:


Free T4 1.02
Free T3 3.6
TPOAb <10>

Sincerely,

Christine (my last name), concerned mommy

P.S. I have two grown daughters I never had these problems with. It is because of them, I always knew something was very different with Sabrina even as an infant, but until we saw you and Dr. Borchert, no one told us about possible endocrine problems with ONH.

THYROID DISEASE CHAT CENTER

I highly recommend this thyroid chat group. The people are very helpful and can provide information to help you deal with your doctor(s), and understand your labs. Here is the link: http://thyroidhost.proboards30.com/index.cgi

Waiting for test results....

Both of us are being tested for other related conditions and results will be posted if they are positive for anything.

Sabrina's Test Results

Upon receipt of her test results, along with my diagnosis, and Sabrina's own words about how she felt, the doctor made arrangements for me to take her back to the endo. I called and was told to email him my story, and her test results. I did so, and was excited to go back and take my daughter to see this sought after endo. I was not happy that I had to discover this on my own, but I held no grudges. My feelings changed when I received a response. Rather than go into that story, I will post the emails we exchanged here. This is the order: I emailed him, he responded, then I canceled our appointment in the third email to which I received no response from him. I admit I was emotional, after all, I have newly treated Hashi's and all kinds of emotions go with it  but, now knowing my daughter was missed too....well....I was on a  mission, and really thought he would understand. In the past when she underwent surgery, his emails were very nice and helpful. I expected the same listening ear...ouch. 

Note: Some things I said in my email to him have changed since my research keeps going on:
I am not rare...people with Hashi's can get hyper and hypo spells. Controlled studies in rats and mice have found that thyroid hormone causes optic disc malformations, and I cannot find a US study that is checking into the Hashi/ONH connection. I know now for sure that high LDL is a symptom. I know her skin color is also a symptom (carotenosis), and in a case of hypothyroidism it is not a benign condition, but can be serious if you have too much of a build up in your system, so serious in fact, that we are cutting back those foods and vitamins (as we have been told to) until her hypo is treated. Oh, and she DOES need medication..there is no "if".

Dear Dr. (blocked),

I am writing about my daughter Sabrina. I believe you have seen her three times now, the last being September 12, 2007. We were scheduled to see you in March 2008, but you told us that was only if we felt the need. Since we thought her fatigue was improving since her tonsillectomy in October 2007, and she was growing, we cancelled. However, the same problems have been occurring. She has a slight yellowish-orange color to her skin, with a heavier concentration around her mouth. She has extreme moods swings, fatigue, and constipation. The mood swings and constipation have always been an issue since she was an infant, but have worsened during puberty. She, and we, have suffered dealing with these symptoms in some very difficult and embarrassing ways and we hope you can help us now that I have been diagnosed with Hashimoto’s thyroiditis, after many years of suffering. I have seen 8 doctors in the last 8 months; two neurologists for the fatigue, numbness and tingling, three general practitioners for the host of other symptoms, my gynecologist for the heavy menstruation, my ENT for swollen, infected parotid glands and painfully swollen lymph nodes, and an endocrinologist...finally. In the last 17 years of being treated for symptoms of the disease, and seeing an additional 10+ doctors who missed it, I now realize I have had symptoms since my teens. I had to hear at 42 years old that the weight I couldn’t loose over the past three years (20 pounds), the extreme fatigue, moodiness, constipation, low iron, dry skin, and as you know, a host of other symptoms a page long, was due to aging, not enough exercise, bad diet, hereditary, or in my mind. Since no one listened to me, frustration and angry tears finally led a doctor to give me an ultrasound. I told her after hundreds of hours of research, medical papers mostly, not junk websites, that I believed I had a thyroid problem, and I told her I felt almost certain that it was Hashimoto’s based on my symptoms, my extensive reading, and use of medical dictionaries, which I knew I only partially understood. She was not pleased with my self diagnosis, which I understand, because I am sure she deals with many patients who think they know, and are wrong. I told her I found a website that explained how to check my neck, and I discovered my enlarged thyroid, she reluctantly ordered an ultrasound with a shaking pen in hand saying, but you don’t want this diagnosis! No, I didn’t, but since my body has been with me so long, and I am not a paranoid hypochondriac, I knew better than she that I had something terribly wrong. I was sick and tired of taking the recommended supplements that changed nothing; the fatigue, the weight, the painful, swollen lymph nodes in my neck, etc. I was determined to find a doctor who would listen. 

The road to a diagnosis began in April and I was finally diagnosed properly May 30. When I saw the first pathology report, I cried. I was happy I was diagnosed, and very upset that I was mistreated for so many years. “I told them so” was heard through my tears. It took two FNA’s to rule out cancer, the second being quite painful with 23 gauge needles, and I still have not had the one antibodies test that should have been done a while ago. I am more rare, I guess, because occasionally my thyroid works, but when it does, I am too hyper. In years past, I had bouts of being too thin. My husband told me to eat more, but I was eating the same. The weight would return when the fatigue did. I had a TSH of 2.77, the two times they even did that test in the past 8 months, which is questionable for hypothyroidism to a trained eye, but not scary, until you live in my body. 

I believe it is possible that my untreated thyroid disease could have contributed to Sabrina’s brain development. After all, no one knows yet what causes it, and isn’t it interesting that ONH is associated with thyroid disorders? I also find it interesting that the baby is dependent upon mom’s thyroid 100% during that first trimester when the brain is developing, and the optic nerves are being formed. This is why I have informed Dr. (blocked) about my disease, and other parents of ONH kids. Guess what? Lots of emails are coming to me from moms who have my symptoms, who are now going to get the “right” tests, or moms who are now being told they have a thyroid condition that was present during pregnancy. Only further research will determine this, and seeing that there can be numerous factors, this may not be the only one they determine as a cause in the future, if at all. Still, it is interesting.

I have learned on my own what tests to have done. Thankfully, Sabrina’s pediatrician did them, as I requested. Neither Sabrina, nor I, test positive for TPOAb, but Sabrina does test high for the one test they have not done on me yet; the antithyroglobulin antibodies; lab range 0-40, Sabrina 191. I am very interested what my advanced disease will show next month with this same test that I have requested from my endocrinologist. So, Dr. (blocked), we need you again! But this time, we have some new discoveries for you to help us with. We are wondering if her bones have fused yet, if she needs growth hormone for her moods and “feeling sad and not knowing why”, or thyroid replacement hormone instead, to help bring her low iron back up, and help with the rest of her issues. Her ferritin is 13, in the lab range of 10-232, but low. Mine is 15 on iron supplements and I know it should be 80-100, but my Hashi’s keeps it down right now, as I am newly being treated. Hers would be best around 60 from what I was told years ago. Both of us have suffered from anemia at various times. She was treated for it at age 8 by her previous pediatrician, again, no one checked her thyroid, instead we were suspected as not feeding her an iron rich diet! The poor girl became obsessed with reading boxes and cans to see how much iron was in them. You can imagine our frustration, but at the same time, I am happy we can proceed from here, and hopefully help her to feel better, as I am slowly, with the help of medication (if she needs that now). 

I have discussed our new findings with Dr. (blocked). I have learned that these antibody tests are not routinely performed on (blocked), usually the TSH, free T4, and free T3 are done. No one diagnosed me by those tests. If there are any tests we need to have done before we bring Sabrina to see you, let me know, and I will have my pediatrician order them. Her cholesterol has been higher than usual the last two times it has been checked, especially the LDL, as is mine, and this is considered a symptom from what I know, but this is why we need you, to sort all this out and help her feel better. Do we need to bring an x-ray? B12 blood-work? My B12 is low, but not terrible. TSI? We are scheduled to see you July 28th and look forward to seeing your smiling face again, especially now!

I had our pediatrician fax over the complete panel for you after I spoke with (blocked), but for now here are some of her tests results: 


Free T4 1.02
Free T3 3.6
TPOAb <10
Antithyroglobulin 191 (range 0-40)
Ferritin 13 (range 10-232)
No B12 has been done


Sincerely,

Christine (blocked), concerned mommy

P.S. I always knew something was very different with Sabrina even as an infant, but until we saw you and Dr. (blocked), no one told us about possible endocrine problems with ONH.

Doctor's response soon to come.....

The road to a diagnosis, and the hope of better health

On April 3, I was seen by one of my general practitioners. She was kind in that she said she would do testing and try to figure out the problem. I told her of my worst problem...FATIGUE. At that time, I didn't recognize many symptoms that I was having, but I knew these and shared them: hip pain, weight I could not lose with exercise that only made me more tired, I felt puffy, as if retaining water, I had shortness of breath, heavy periods, brain fog, the numbness and tingling I had months earlier, but had left me when I started to take iron supplements because I was anemic on my last tests and decided to treat myself. She ordered blood tests. I left feeling upset, because she started in on the aging and weight gain, heredity, and women and female hormones. I went home REALLY ANGRY......I went online. I started doing something I had never done. I typed in numerous symptoms at once, in different orders, in different search engines, and I found things about hypothyroidism and specifically Hashimoto's. The information was endless, I read until I had to sleep. Somewhere in my research during the two weeks before my next appointment, I found out a lot about that little gland in my neck. It made sense, I had so many symptoms of this. I did have Chronic Fatigue, I did have sore muscles and joint pain (Fibromyalgia), but I had symptoms that only showed on comprehensive lists of thyroid disorders. Of course I was chronically fatigued if I had a thyroid disorder, of course I had muscles aches if I had a thyroid disorder, heavy periods, fogginess, forgetfulness, all symptoms. Really?? I was reading my jumbled up life story on webistes about Hashmito's thyroiditis. Easy bruising? yes, that is me, and always has been back to childhood, regular bouts of constipation, premature gray hair? uh, yup. Some of these things are not considered symptoms, just signs in some people, so I kept them off the doctor's list. Yes, I was making her a list...a long one. Either it was my thyroid, or I needed about 10 different specialists. Once I decided I most likely had Hashimoto's, I stumbled upon a thyroid cancer website: http://checkyourneck.com/  Well, of course, I checked my neck. I felt it and thought something was different, but I wasn't sure. I got out a mirror and became concerned. Then, I checked everyone, and watched them swallow...no bulge. I showed my husband what happened when I swallowed with my neck back, and he gasped, and said I looked like a bullfrog. Okay, now we knew 100%, it was my thyroid. 

Time to check my lab work, into the doctor I went. This time accompanied by my husband and terrified that again I would be ignored, even with the evidence in my neck. I was extremely fatigued. Coffee just made my heartbeat faster, and didn't get me going anymore. I dragged myself in and laid there waiting for the doctor. Guess what, she merrily announced, "Your tests are all normal!". I said, well, I am not. I am sick and I believe it is my thyroid. Here is a list of my symptoms. Well, I already knew doctors didn't like you knowing more than they do, but still, I hated her response, "Let's not start with a diagnosis". I FLIPPED, I was tired, and here came the flood of tears, but, I was mad. No more was I going to listen to excuses, no more. My husband tried to calm the mess, eventually the doctor made a lame pass with her hands behind my neck on the front of my thyroid and said, "Well, you have earned an ultrasound". Earned? And she sent me to an endo who I was to see after the ultrasound. My GP was tired of me after three visits. Forgot to mention, while waiting to see the endo, I had to see my GP again (the third visit) and my ENT. My salivary glands (parotid glands) swelled up, and I was having trouble swallowing as well. The Hashi's I knew I had was causing so much inflammation, that I was puffy and swollen all throughout my face and neck. My lymph nodes were huge and painful, and I would get strange sore throats.

Ultrasound day: Tech scanned me, I could tell he found something, because he brought in tech number two to check his findings. Of course they made no fuss, but I knew, since they kept scanning and measuring the same areas. Two nodules, solid. Next step FNA (Fine Needle Aspiration/Biopsy). Any nodules over 1 cm are supposed to have FNA so in I went. It hurt, but not too bad. Results came back as Hashimoto's, but could not rule out lymphoma, a second FNA was needed with different samples required. I cried when I saw my name on the same page as a Hashi's diagnosis. "I told them so",  was heard throughout my house. I have learned that only a special test can rule out thyroid lymphoma, and even then, low grade lymphoma can still be present, but not found in the test. So, in I went again, this time I left with significant bruising. I had a tennis ball-sized bruise on my neck for 3 weeks after the second FNA. The procedure hurt bad. I am rare, most people I am told don't react that way, but they did use bigger needles than the first time. I went home, iced and lived with pain for 5 days. I healed and they have cleared me, but I will always need to be checked, as is common with Hashi's and so are nodules in thyroids. 

Now I had my diagnosis. In between ultrasound and FNA I saw an endo who started me on thyroid medicine. Nodules were enough for her to do that. No argument from her about my TSH results or other thyroid tests which I am still to have. Now, meanwhile I was reading about what proper thyroid tests are. I found that only two were done on me by my GP's; the TSH and FT4. Also, I was watching Sabrina turn more orange and was becoming very concerned about the strange concentration around her mouth, sort of yellow-orange, maybe orange-brown...odd. I started reading and found things about beta carotene conversion issues......but nothing related to thyroid. Before my official diagnosis I was signed up on a thyroid chat site, and so I asked, and was directed to sites that gave information about carotenosis and hypothyroidism in children. Okay, bingo...fatigue, constipation, moods, beta carotene to Vitamin A conversion problems...my daughter has my disease? YES. I asked the nurse practitioner at her pediatrician's office to order the tests right after my first FNA reports said I had Hashi's....

The beginning of a long story....

This is my first post on this blog. It is Sabrina's ONH/Hashimoto's story. I am returning a favor to all those, including doctors, (that's right, I do not hold a grudge against them all), who have helped me to diagnose myself and my daughter. The internet has proven to be our most dependable, caring, and complete doctor. Thanks to many people who either suffer from, or have relatives who suffer from Hashimoto's or Optic Nerve Hypoplasia, and who have shared their stories online. Thanks also to all the doctors who have shared their research; although not yet complete, it was enough to help me find the answers I needed to fight for our health. I have read so much online, that I am lucky to have a family left that wants anything to do with me. They have supported my determination to find an answer for our problems. 

It all started when I became concerned with my daughter's symptoms a few years ago. She had had strange issues since birth, starting with her wandering eye at two months. Having had two daughters years earlier, I knew this eye had an issue. I brought it to her pediatrician's attention. The advice given was to watch it, because it might go away. We watched it roll around for months, until finally she was sent to a pediatric opthalmologist at eight months old. He diagnosed her with "big words" (we blindly trusted doctors back then), and said to patch her. We patched, it rolled. He said her vision improved, but we really do not know for sure if that had anything to do with patching, or if she just got old enough to care about paying attention to his tests. Patching is controversial, we understand why. Nevertheless, it continued, the muscle did not improve, and surgery was done on two muscles on her ONH eye at age 3 by her first pediatric opthalmologist. It stopped rolling, then started again. We patched more, and surgery was done on one muscle in each eye at age 4.  As he was retiring, surgery was performed by her new opthalmologist, while he assisted, and we continued to patch until age 5. At that point her second opthalmologist asked for an MRI to assist with further treatment to make sure this was the best her vision could get. Her first MRI revealed the right optic nerve as having ONH, as we were initially told. So, she has UONH, unilateral, meaning one side/one eye affected. The second MRI, a few months later confirmed a missing septum pellucidum, and we were given the diagnosis of "A variant of Septo Optic Dysplasia". Doctors  argue about what to call it; SOD or ONH. I chose ONH because no matter what else is found, the optic nerves are the guideline for diagnosis in most cases, because it is the problems with the optic nerves that generally lead to the search for other missing or malformed parts of the brain. So, we were told not to worry, she had a variant of SOD, and that meant that since she was 5 and learning fine, she didn't have those "other problems", like a learning disability. No one mentioned endocrine testing. Life went on.

A few years later, I started typing in her worsening symptoms in various search engines, and I found almost immediately websites that discussed that every child with ONH needed endocrine testing. Apparently these kids can look normal, learn normally, and still have serious endocrine problems...duh. So, I took charge and informed our pediatrician's office about this overlooked issue. I was met with kindness and concern, and we visited a neuro-opthalmologist when she was 8 who gave us a diagnosis of mild-moderate ONH. He asked about whether she had been seen by an endocrinologist, to which we replied that she had an appointment with his colleague. He was glad of that as he noticed her early development and said she would be given a complete endocrine work-up as all ONH kids should have. We took our concerns about her symptoms of anemia, fatigue, constipation, etc. to this endo, and we were met with something very close to this...Since she is not an infant, I can tell by looking at her that she does not need the tests. Ah hem, okay, but what about what your colleague preaches, All kids with ONH need to be tested? Again, he could "see" that she was fine. Our concerns about her health were ignored, because he could see she was healthy. Can you see all cancers while they are attacking people? Nope, so who did he think he was, Superman? He did bone age testing to check her, to appease us...yup, x-ray her, tell us she is growing fine, and ignore her fatigue. Note; many hypothyroid kids are too short for their age, and sometimes slightly overweight, ours was over the 95th percentile and thin. Rarely, some grow too fast and then stop, and this was our concern. Doctors made excuses for her dark circles...allergies, genes, we have heard it all. Genes, true, my husband gets dark circles when he is exhausted, but after rest, they are gone. So why did she always have them? She was tired, it showed. Constipation? Fatigue? Okay mom and dad....you are bad, bad, parents, after raising two girls, for some reason this time around you don't know how much sleep this one needs, or her diet, that must be it! A family who doesn't even drink soda must be feeding her junk! Yup, excuses are what we heard. Obvious signs of hypothyroidism, went ignored, and I was treated like a paranoid mother. I second guessed myself. I mean this one endo is well known in the ONH "community", how could he be wrong? I must be missing something...so my research continued, but now I was focused on what I could be doing wrong as a parent. Was I getting too comfortable with my parenting techniques of the last 21 years? Hum.....let me check again: read about food, make sure the diet is okay, sleep hours, how many does an 8 year old need? Can they sleep too much? Thirteen hours is a lot, isn't it? Well, let's wake her up after 10, 11, or 12 and see if that helps. I had my 8 year old reading boxes to make sure there was enough iron in her diet. We all got confused. How come we were told she became anemic because her diet was not rich in iron? It seemed everything we ate had more than enough. 

As time went on, and we had two more appointments where x-rays of her hand were taken, and we were told what that meant. At one point we were told that it is possible that her height might be not genetic, but in fact possibly related to her ONH. Still, no tests needed to determine that, we were told, because her height was acceptable, growth hormone is generally looked down upon when you might be short, but normal enough for a woman. What about checking it doctor? How about growth hormone for moods and depression if it shows your body lacking it? How about that hypothyroidism that can come with ONH? Tests? What is the big deal, doc? This kid watches when they stick her with a needle, she isn't afraid of needles, nope, she is MAD about they way she feels and all of us have to live with it every day, and we are helpless without you doing something! Oh, that is right, you can tell by looking at her...Superman! Why is it that we PAY to see you and you hold all the cards? We wanted her tested, so do it, it is our child, our insurance, and money that pays YOU.

That same year she started to fall fast. She started to get ear infections, and illness all the time. She had had only one ear infection and it was at age one, on her birthday. One day she came to me and asked me what this thing was in the back of her throat. She saw it while flossing her teeth. It was a tonsil that had been pushed into her airway. We were told infection can cause them to never return to their places. She had a ping pong ball in her throat. No wonder I would hear her snort, snore, and stop breathing for 15-20 seconds, then gasp for air. We had always been told she had large tonsils, but this one tonsil was angry. Another road to travel. She was given more antibiotics and steroids to try to shrink this thing, or put it back in its place...nothing worked. After the pediatrician tried everything, we were sent to an ENT who actually said this while looking into her throat, "So, Mom, you think that is enlarged?" Check for pictures soon to come of that tonsil and you will think him blind. Everyone who looked into her mouth gasped. He tried to shrink it with drugs  just like the pediatrician, and guess what? Didn't work. He scheduled surgery, but I did not trust a doctor who didn't think it looked like a problem and who said he would do surgery if I thought it was big, but he didn't think so. On to the next ENT, who looked into her throat and said, "OH! well, young lady, that has to come out, and you will feel much better when it does". Food got stuck in her throat, and she was loosing weight fast because eating was unpleasant. I still wonder, was this Hashi's attacking her lymph system? Tonsillectomy, no more snoring, feeling better, gaining weight back ow that she could get enough food down, but still an underlying fatigue, just not as severe as when she had the apnea due to the tonsil blockage. 

Life went on, and meanwhile I got worse. We never related my fatigue with hers. Not once did I think anything other than I knew I was sick, but doctors told me I was aging and this was part of it. I questioned them and said my 50-60 something friends run circles around me, but then they armed themselves with, it must be your genes. What about my hip? I was limping like I had serious arthritis in it. It hurt and would not work right most days. Okay, well, if 41 feels like this, I will be dead in less than 5 years. There is no way I was aging at this rate. 41 and you can't get out of bed after 13 hours of sleep? 41 and you have short periods of time where you cannot sleep, so you clean your house until 2 a.m. to exhaust your body so it will quit running at a fast pace, and then you wake up ready to go physically after 5 hours, and you are tired, but cannot sleep? Was I bipolar? I read about that too, but it didn't explain all the other physical symptoms. Yup, I am loosing control of my mind, but not due to that. I was getting very forgetful and felt constantly foggy. What the heck was this? Numbness and tingling, was I having mini seizures? No, the numbness and tingling was all over! 

My husband loved the clean house, but missed my cuddles. "Tired, but wired" is what I call Hashi's hyper attacks now. So, Mommy was sick, and Sabrina kept getting tired. This past March, I really lost my mind for a moment. I ran my husband over with angry tears telling him something was wrong and I needed help, but after four doctors, one GP, one gyno, and two neurologists  I didn't trust anyone to help me. One neurologist recommended a beta blocker for the rare migraines I was having, along with magnesium and CoQ10 for energy. He told me to go home and read about them and I would see that is what is causing my numbness and tingling. I read about them, and did not have the first 3 symptoms that always come with them. I still have the written prescription, never filled. The last thing I needed was a beta blocker. My blood pressure did not need to go down. I was already lightheaded and dizzy! He could have killed me! I had Hashi's! I asked to see another neurologist. He said, I was healthy and he could check me for MS, but didn't think I had that and just to take some B2 for energy and get back to exercising, since I was getting old and all, at 42. After I cried angry tears, my kind husband encouraged me to get an appointment and to keep on them this time, and not let them get away with telling me I was aging.