Still no diagnosis...

[JGOLF]

Hello Everyone,

I am a 21 year old female, currently in college and playing golf on a NCAA Division 1 team. I have always been a very active, healthy girl with never any health concerns. This past summer, I was working 5 days a week at a country club and stayed very busy (my days consisted of work from 9-5 and after work I would spend the rest of the day practicing until 930pm.) I would workout at least 3 days a week, and play golf at least 4 times a week if I wasn't practicing. Physically, I was not that drained from my summer, because mentally I would push myself to keep going, so I never really noticed if I was tired or not. I have always been extremely active and busy being a student athlete as well, we have a non-stop schedule with school, workouts, and practice. This past summer I noticed something a little unusual with bruising, i was getting big bruises for no reason and little blood dots around my body. I thought it was a bit strange but I didn't do anything about it. When school started last semester, our team went in for our physicals and i informed our school doctor about the weird bruising, he told me to go in for a blood test because i might have a vitamin deficiency. The following week i went in for a blood test and the got my results with all three of my counts being low. my platelets were the most extreme with it being 14. Let me note that this all happened beginning of september 2011. The next day i went in to see a hematologist who told me i either had HIV, Leukemia, aplastic anemia, or ITP. i was then tested for hiv and it came out negative and did a bone marrow biopsy where it showed that my marrow was normal. The doctor then prescribed me prednizone, (i believe 40mg) to start off with. The medication helped slightly but my platelet levels were just hanging around the 20 mark. On September 19 2011, i was in a major freak golf cart accident where I was in the hospital for a week. I had several abrasions all over my body, including torn acl to my left knee, torn ligament in my right foot, 15 staples to the back of my leg, huge bruises everywhere, and 15 staples to my head. The doctors decided to give me a platelet transfusion while I was in the hospital, but my body did not take it, my counts dropped once I had the transfusion and had gotten a rash. It was a crazy month I must say. I was in recovery and still am to this day. I dropped out of school and it was time to slow things down and start focusing on my health. In October, my hematologist referred me to stanford, which is where I am at now. When I first arrived they decided to have me a do another bone marrow biopsy because they said the first sample done was not a good sample. My counts at this time had been hovering around the mid twenties and after the accident they put me on 100 mg of prednizone twice a day. The doctors told me after doing the second biopsy that if you looked at it as a whole, my marrow looks normal, but if you at it in sections the ratios of my blood counts were off. They said that they did not believe it was ITP, and I had a bone marrow disorder. I go to stanford every week for blood tests where they monitor my counts and medication levels. They put me on Cyclosporine in the end of October and since then, my platelet counts have increased to 46, which is the highest they have been and my white counts are normal. I am also anemic as well. I see my doctors once a month for check ups, and it has been 5 months and I still have not been diagnosed. I am going to ask for another bone marrow biopsy my next appointment. I think the scarriest part for me is the fact that the doctors do not know what I have, they are leaning towards the beginnings of aplastic anemia, and found a PNH Clone in my marrow.They do not want to call it aplastic anemia however, because it is not showing itself in its normal fashion. I am currently on 175 mg of cyclosporine twice a day and 12.5 mg of prednizone once a day, and they just put me on a antibiotic. I have just started going back to school again and on a medical redshirt for golf. I recently started playing golf again, even though I still have the torn ACL and ankle problems. The doctors don't really want me playing, but I cant help it, golf is my life. I love it. I am trying to live my life as normally as I can. I just want some answers. THe doctors said if my counts don't start increasing more rapidly, then he going to consider ATG, which I have no idea what that is. And if that doesn't work, then its going to be transplant time (which thank god my brother is a match to be my donor), BUT i do NOT want to do a transplant if the doctors cannot even diagnose me yet. AND the side effects of all these medications suck! Would cyclosporine and Prednizone cure me or is just stabilizing me for a short time? Its crazy how I thought I was so healthy and fit to find out that I might have such a rare disease. Any help or advice would be great! thank you!

[Lisa Z]

Welcome to our world. I am an avid tennis players. And, when all this first happened to me, I had to give up my singles contract for one season, because with the anemia it was too hard for me and simply not fun. So, I understand your frustration. But, I am back at tennis now and playing some of my best matches every.
you need to be patient to find out what the diagnosis is. Sometimes it takes a while. Some of the bone marrow failure diseases are similar and could simply be autoimmune disease also. Patience is so key here, unfortunately. Just be careful with your low platelets, because a big injury can be serious w/low platelets. Neither "cyclosporine or Prednizone " are cures. Only potential cure is a bone marrow transplant, (IF you have bone marrow failure), and then there is the GVHD, (graft versus host disease)...
This is a great forum to get information from, so keep looking!

[Sally C]

Hi Jgolf,
Just some input from my husband's problem with getting a diagnosis. His marrow didn't show anything definitive when his counts started dropping. After our hemotologist couldn't diagnose she sent us to Medical College of Va. where the 2nd bone marrow biopsy was done. They weren't able to come up with a diagnosis either. Aplastic Anemia was what they suspected. After 6 months of inability to diagnose and several months of already needing red cell/platelet transfusions our hemotologist asked the National Institutes of Health in Bethesda, Md. to take him as a patient (although he probably could have contacted them on his own). Within a week they had a diagnosis of Myelodysplastic Syndrome. It took a year or more after his diagnosis for his marrow to start showing classic MDS marrow. If you don't live near Bethesda you could possibly go to MD Anderson in Houston as well as other hospitals/clinics that specialize in bone marrow diseases. Maybe you will receive more input about this from others on this site. I don't know about Anderson but since NIH does clinical trials, all the procedures, treatments, etc. were free to us. He received Campath there after his diagnosis (4/09) and is now in a clinical trial for Eltrombopag (Promacta) which has greatly increased his platelets as well as his red cells.
I hope this helps and I wish you well.
God Bless,
Sally

[Lisa Z]

I also did the Campath Trial at the NIH. I did mine in March 2009. I am going this March for my 3 yr follow up.

[Sally C]

Hey Lisa,
It was such a coincidence that you posted when I did. When my post went up I saw yours and noted that you had Campath a month before my husband. He wasn't as fortunate as you were to have such success. He had a minor response but at the same time I believe they saved his life. Such a wonderful, healing place.
Good luck on your 3 year follow-up. Keep us posted.
God Bless,
Sally

[Hopeful]

Hi JGolf,

If you are on the west coast, I'd recommend bringing your slides/records to a consult with Dr. Paquette at UCLA. He sees a lot of AA and MDS patients. These diseases are tricky to diagnosis, and it doesn't hurt to have more eyes looking at the problem while you are "stable".

Are you off the prednisone now? It's not usually given in combination with cyclosporine except to treat serum sickness when getting ATG. Having a PNH clone is thought to be an indicator of an immune mediated bone marrow failure. So, the cyclosporine is probably helping you. Your response seems great so far. Maybe you caught things early enough that you can avoid ATG.

Best of luck to you! You are young and otherwise healthy, and that will help you a lot!

[cathybee1]

You must be frustrated and worried...unfortunately it is not unusual to be without a diagnosis for quite a while. Bruce had low blood counts for the past 10 years, we have spent the last year and a half seriously trying to find out what is going on -- We have seen Dr. Paquette at UCLA twice...and Stanford also has an excellent reputation for treating bone marrow disorders. We learned along the way that sometimes bone marrow disorders don't present with neat diagnostic criteria, but are diagnosed by exclusion. Your plan to live your life as normally as possible in the meantime is a good one. I hope you find an answer soon.

[JGOLF]

Thank you everyone for your responses, it is nice to know that i am not the only one going through this and that it is common that it is hard to diagnose. This website is awesome, it has definitely helped my mom and I look for some answers. Sorry I haven't replied recently, I have been feeling a little under the weather.
On my very first visit to the hematologist, the Doctor put me on prednizone which I have been on since the beginning of September, when I was transferred over to Stanford, they also put me on cyclosporine. They are trying to find the right dose of Cyclosporine for me while tapering off prednizone, I am currently on 12.5mg.
I did my weekly blood test and my counts are still in the 40s.. my platelets were at a 42 this week. I started my period this week and was super fatigued and thought that my red blood counts would go down, but surprisingly they were normal.
The meds have helped me, they keep my red and white counts in a normal range but my platelets are still lower then normal.
I cannot wait to get off prednizone, the side effects are horrible, moon face, weight gain, hair growth... all sucks, but happy it will go away as soon as I get off the meds. I think I have done a pretty good job of maintaining my weight gain, (13 pounds in 5 months) BUT I cannot wait for the moon face to go away!!!!!
This friday is my monthy meeting with the doc, I will keep everyone posted.

Thanks again for the support

[JGOLF]

Today was monthy visit to the doctors. My platelets dropped from 44 to 36. My doc thinks it was because I wasn't feeling to good and a bit fatigued. He is not changing any of my doses right now, but if he doesn't see any big jumps within the next month then we might be looking towards ATG. My tests regarding gluten came out negative. The difference this week is that my magnesium level dropped abit, So I will probably take a pill for that. I asked for another biopsy test which I will probably do next month. The doctor told me that my cellularity in my bone marrow is 50 percent which is a little low for a girl my age but in no way showing aplastic anemia. They believe it is aplastic anemia however if they do another biopsy and my cellularity level drops. Does anyone have thoughts regarding what this could be, or any advice on what we can ask the doctor or any tests we should get done? Thanks!

[mscrzy1]

I may be misreading, but are you just having problems with your platelets? Or are other blood counts being affected as well?

[JGOLF]

In the beginning all my counts were on the lower end with my platelets being the most extreme, once the doc put me on prednizone, my red and white blood counts were in the normal range but my platelets were still low. My platelets have remained lowest while my red and white blood counts fluctuate around the normal to lower end range.

[mscrzy1]

Since the pregnisone seems to be turning it around a bit, have they checked into other autoimmune disorders besides celiac's (gluten intolerance). Also, a simple blood test isn't the tried and true way of determining celiac's. There are many who get the blood test only to find out that they do indeed have celiac's when they get the colon biopsy done, but the biopsy usually isn't performed unless you are exhibiting other symptoms as well.

I really am wondering if you may not have some other autoimmune disorder that is the root cause of it all. Read my story all the way through the comments and all and see what you think. What I'm going through now sounds an awful lot like you. I'm currently on lupus meds (pregnisone is also a lupus med, BTW) and doing great. Good luck to you!

[Chirley]

Hi, just something else to be aware of.

My antigliadin antibody was very high so I was told to start a gluten free diet ugh. But I also had a duodenal biopsy on the same day and that result took longer to come back but showed no celiac.

Have since had repeat tests and the blood test always shows disease even though I don't have it.

Duodenal biopsy is the only definitive test for celiac.

Regards

[cathybee1]

For what it's worth, a sensitivity to gluten and celiac disease are not the same thing. According to our family doc, the gene for celiac can be turned on and off, so the testing may not always be a reliable indicator.

Though he showed negative for celiac, Bruce has tested sensitive to wheat and gluten. He went off gluten in early December. It may be coincidental but since then, his time between transfusions has increased. Giving up gluten hasn't been so bad, there's lots of good substitutes available now.

[mscrzy1]

Yes, cathybee is correct. There is a difference between celiacs (gluten intolerance) and gluten sensitivity. You can be sensitive to gluten and not have celiacs. And she's also right in that a gluten free diet is actually very simple once you embrace it. Both of my girls are gluten intolerant. I've taken myself off gluten as well since we know that it has come through my family. Of course, eating gluten free is easier for my kids since they haven't lived 30 some years being able to eat all those yummy pastries that are no longer allowed.

Before being dx with celiacs, my sister had cbc's that were bottoming out after her hip surgery. Her blood test showed up negative for celiacs. Her colon biopsy was a last ditch effort kind of mission and it came back positive. She's been gluten free and completely normal since. After going gluten free myself, I was hoping to see a change in my counts like cme01's husband or my sister....maybe a slower drop, a stabilization, anything. We didn't see a change at all for me, but it's worth trying! Going gluten free doesn't hurt anyone and it's a simple change to see if there's a difference. Maybe you could get lucky!

[JGOLF]

Thank you for your responses and suggestions

Angie- I believe they have looked into ITP as well but I think since I didn't have a good response with the first transfusion they stopped thinking it was ITP. They don't want to give me any more transfusions because they are seriously considering bone marrow transplant even though they don't have an exact diagnosis yet. I did read your story, and I did have a lupus test done and it also came out negative, but after reading your story I think i am wanting to be tested again.

Cathy- so once your husband went off gluten did his counts go up?

I am going to give a gluten free diet a try, I'm sure it's healthier and it cannot hurt you. How long does it take to see results once you start a gluten free diet? Is gluten in all breads and carbs? I've been counting calories and watching what I eat, and I've noticed that 50 percent of my daily diet are carbs.

[cathybee1]

JGolf, for Bruce, his red blood counts have stayed up longer than they did before. So the time between transfusions has increased. That is a major benefit, because he is transfusion dependent.

Carbs are not bad!! And being gluten free is not the same as carb free.

The non-gluten commercial products he eats are made of different grains than wheat. Think rice, corn, soy and oats for example. There's a wonderful high protein grain called quinoa, from S. America, that is delicious. There are all kinds of gluten free products in the supermarkets -- even in the little town we live in. Gluten free bread, pancake mix, crackers, pretzels, you name it. Bruce uses corn tortillas sometimes to make sandwich wraps. The main big change we have made reading labels of processed foods to make sure there is no gluten in it.

Here's a link to the Mayo Clinic website about a gluten free diet. This may give you some more ideas.

http://www.mayoclinic.com/health/glu...e-diet/my01140

Good luck with this, a lot of people (who don't have measureable gluten sensitivities or celiac disease) including me, have noticed feeling "better" when they avoid wheat.

[JGOLF]

Do you have to be completely gluten free to see a change, or can you just minimize the amount of gluten you eat?

[cathybee1]

JGolf, all I can tell you is what the doctor told Bruce to do, which was to go completely gluten free. One thing to consider would be to try gluten free for a couple of months and see what happens.

[mscrzy1]

Yes, you would have to go completely gluten free if you were to see any change. You should notice a difference within a couple of weeks. Something containing gluten is anything with wheat, rye, and barley. Stay away from soy sauces (unless specifically stated "gluten free") and worchestershire sauce (unless it's Lea & Perrins), most BBQ sauces (unless specifically stated "gluten free") because a lot of BBQ sauces have soy sauce in them, and all beer or liquor, except wine or Vodka. Avoid breads, pastries, and noodles unless specifically stated "gluten free"....basically avoid anything that uses flour. We also have to avoid a lot of soups because they use flour as a thickener. Check out some celiac forums to get an idea of what to avoid, however don't worry about cross-contamination. That is specifically a celiac concern. If you are simply gluten sensitive, you don't have to worry about that.

I apologize! It sounds WAY more overwhelming than it actually is. Once you figure out what to avoid, I promise it's very easy. :-)

[JGOLF]

Hi Everyone,

Just wanted to post some good news: My blood counts have all increased last Friday! My platelets are at a new high of 51! my white blood count: 4.4 and my red: 11.2. I am still on 175mg of Cyclosporine twice a day, and the Doc dropped my prednizone to 10mg and will continue to taper off! also on a antibiotic 2twice a day on weekends called sulfamethozal ( sorry if spelling is wrong). Overall feeling great, got another blood test on Friday! I have an appointment for another bone marrow biopsy on March 16th and my doctors appointment on March 23rd. Still no diagnosis!

[cathybee1]

We'll take all good news! And your feeling good is also good news! Thanks for posting the update.

[JGOLF]

Even better news! On Friday, I had a new high again of 57 for my platelets!!! Doc said he is encouraged by the results and now I will be going to stanford once every 2 weeks!.. Next up bone marrow biopsy!

[CatherineJ]

It's great news that your platelets are up!

I also had a long period of not knowing what was wrong. First biopsy was a bad sample and showed less than 5% cellularity which lead hematologist to believe I could have AA but the aspirate showed dysplasia. Took six months to finally get dx of MDS. I understand how frustrating it is not to know and having to wait. Glad you are staying positive, I think it makes blood counts go up, or at least I hope it helps.

Good luck with your biopsy next week, I hope you get answers soon and update us on the news.

[triumphe64]

I had two "bad samples" before my diagnosis. I think they finally sent the sample to the local medical school that made my diagnosis. It has since been confirmed at two different places.

The unknowns with these diseases are really a major frustration.