Diagnosed and no answers

I have always had chronic anaemia ever since I was a kid. I was having regular iron injections done weekly for years to to get my iron count up but it never got up far enough. The iron tablets never worked and my body just wouldn't absorb the iron no matter what we tried.

I eventually got red up with the injections and asked for a referral to a Haemotologist. I see Dr Baker at Hollywood Hospital in Perth. He was great. Booked me in for the iron infusion and for the last couple of years I have one done every 6mths and they seem to work. I asked him why my body wouldn't absorb the iron and the answer I got was 'some people just dont'. For me that was a pretty shitty answer. But I like to know the ins and outs of everything and why things happen so that answer was never going to suffice. My second visit to him he didn't different blood tests and he was able to diagnose me with VWD but the thing is he can't tell me what type. Which again is frustrating the hell out of me! I know that when I had my girls both via C-section I bled a lot that a drainage tube was needed and emptied everyday (would have been handy to know I had VWD at that time). I have never in my life had a nose bleed and everyone says that is quite a big sign that you have it. I have had really bad periods and now I have had a mirena inserted to stop the bleeding and I also take transexamic acid for when I do have a heavy bleed. I also bleed for about 2hrs after I have had a blood test, and if I cut myself that takes a good 20 or so min before it will stop too.

I'm wondering if I should be going to see a different Haemotoglist and see if I can get a better answer as to what type I have because the Dr has said 'some people are just bleeders'. Do I need a medi alert bracelet for this if I am in car accident or something? I have so many questions all of which my Dr doesn't seem to be able to answer.

Any help will be muchly appreciated.

Thank you so much. Im a tad frustrated so any help or advice is muchly appreciated.

Dear Perth Mum,

I am sorry you are having so many frustrations with the Medical Profession. Coagulation disorders are not the usual order of business for Haemotolgists (UK English spelling) , Of the four specialists I have experience with, only one had more than one serious vWD patient experience and he was with a Haemophilia Clinic. If there is one in Perth, you should see if you can get an appointment for an appraisal of your condition. The blood tests necessary to diagnose the type of vWD include, forgive my spelling, Ristocetin C co-factor activity, VWF antigen activity and Factor VIII activity for starters. If your Von Willebrands activity is much less than 10 % you might have Type III vWD. If it is higher than it might be Type I vWD. However there are several types of Type II vWD which require further tests to specify. One test is called a blood smear or multimere test. This test looks at the size of the VWF particles in the blood. Usually the VWF proteins travel through the system in small groups called multimeres. Your groups can be mostly small, normal or mostly large. But wait, there is more, Sometimes your VWF proteins have the wrong shape and are ineffective in the clotting process. . A multimere test helps distinguish the four possibilities. Normal distribution puts you back in type one or three depending on the amount of VWF in the blood. The other outcomes put you in one of the Type II categories. The treatment for the types is different which is why your armband should say which type you have. Now continuing with vWD types, there is an additional complication. In forming a clot to stop bleeding, the Von Willebrands Factor (VWF) links up with a Factor VIII protein that also circulates in the blood. If you lack Factor VIII to a degree you have Haemophilia A. You can have both factors missing, like me, and be classified as von Willebrands Type III and Haemophilia A. My factor tests are much less than 10 percent. I bleed profusely from any external cut and from any blood vessel that breaks inside my body. I am presently bleeding from a broken AVM (arterio-venosal malformation) in my small intestine. I had an upper GI and colonoscopy to eliminate bleeding in the stomach and colon. Since the bleeding is continuing, it must be in the small bowel. I have my own Haemocult test kit in the bathroom and I test my stool whenever the color is slightly dark. The test paper turns blue if blood is coming through the digestive tract. I don't swallow slow-iron supplements because they make the test positive. I rely on iron infusions to rebuild my iron supplies and I eat dark leafy vegetables like spinach and broccoli. Blood from the colon comes out somewhat red. If the bleed is higher up in the GI tract it will just darken the stool so test often. You can get anemic very quickly by failing to monitor the stool and that puts you in the emergency room for blood transfusions. That is not a good plan. The haemocult test kits are readily available on Amazon and cost about $0.75/test, well worth the price. I use about 100 a year which gives you an idea of the test rates. I have had several bleeding episodes that I detected early and got treatment before transfusions were necessary.

Now then, besides transexamic acid (aminocaproic acid or Amicar) and ddavp, which are useful for some Type I cases, what can the serious bleeder expect at the Haemotologist Office and Hospital? The first step is to discuss P-Humate/Alphanate treatment by intravenous infusion. This material contains VWF and Factor VIII proteins collected and purified from blood donations of others. It is very pricy. My typical treatment runs up to $25000/five infusions which usually suffice to stop a AVM from oozing out blood in the intestine. If you are in the serious category like me, then you need to get the Haemotolgist to insist that your local Hospital keep a supply of the dried factor concentrate on hand as, in Florida, where I live, no Hospital keeps it in stock except my local Hospital, which finally decided that knowing I was in the neighborhood and might die before the drug could be airlifted, found a company that loans them a supply and only charges for the amount used. The shelf-life of the drug is three years.

For those with less serious cases, an injection or nasal spray(Stimate) of a drug called ddavp (desmopressin) often causes coagulation to begin by releasing Factor VIII and possibly, VWF factor from endothelial cells (the cells that make blood vessels among other places) into the blood stream. I am a ddavp non-responder as the best ddavp did for me was raise the level of VWF to near 20%,

If you have a severe bleed, a Haemotologist might perform a ddavp effectiveness study by measuring your factors, give you ddavp, wait two hours and do the tests again. If your factors rise enough you are a good candidate for ddavp treatment which is cheap.

Von Willebrands patients tend to have APTT tests above the normal range. I typically test between sixty and ninety seconds where high normal is 32 seconds. It is not a definitive test for vWD, It just goes with slow coagulation, but most Hospitals can do this test in house and if you show up bleeding, that test will be surely done. It is your job to convince the doctors at the Hospital that you indeed have vWD and or Haemophilia A and need care that goes beyond a pressure bandage or a packing for your nosebleed..

Now, finally, if you have been transfused with whole blood or packed red blood cells (PRBC), or you have been given Factor infusions (P-humate or Alphanate) your body immune system might generate antibodies to the foreign factor molecules and reduce the effectiveness of the factor treatment or you might get an allergic reaction to treatment. Your doctors need to know your history so they can be ready if you show signs of allergic reaction. Furthermore, the dosage will depend on whether you have developed inhibitors in you system for Factor VIII or VWF from treatments. There is a test for the presence of inhibitors called a mixing test. This can be done. It consists of measuring your blood mixed with with standard blood and measuring again after incubating it for a couple of hours. If your blood has inhibitors it will destroy the Factor VIII in the standard blood after incubation. Your doctor needs to know this to adjust your treatment. I live a good life even though I appear to have a sword hanging by a thread over my head. If I am close to my Hospital and Haemotologist, I will survive. I do wear heavy boots out doors, avoid dogs, stay ouI of "blood and guts" bars, and don't juggle chain saws. I am careful not to eat food that will inflame my GI tract. I take really good care of my teeth and gums because dental work is pretty much out of the question.

So I hope this helps you have a background of what to discuss with your doctor. They are not mind-readers and you need to help point the way for them to go. A good doctor would listen to your concerns about which tests to do. It helps to know the vocabulary of Haemotology so take this note with you and feel free to share it with your care providers. I think my information is correct and up to date but I am not a medical doctor. I am a professional patient, however, and I always prepare myself before I go into the hospital. I know how to contact administrators and I know how to deal with hospital protocols so I get the treatment I deserve. I always have my laptop with me and use it to e-mail my concerns straight to the hospital contact page. That really helps get the ball rolling. Good luck Perth Mom and all others who have to deal with Orphan diseases like vWD and Haemophilia A.

John the elder

Just some background on me first... I have VWD Type 3 and went to my local hemophilia treatment center ever since I was a baby. This was mainly because my parents, VWD being new to them, did not know anywhere else to go. In the past year I was severely anemic about every month, counts below 8 and at one point below 6. The bleeding was GI related based on the symptoms but after some tests it seemed my hematologist gave up on finding the answers. His solution seemed to be iron infusions. I did not agree with that answer since it seemed I wanted some kind of answer and not "this is what vwd patience do" type of riff raft. I was feed up with my doctors and decided I deserved better healthcare and I deserved to have my opinions and concerns address (which again is something my current doctor was not doing). I switched my healthcare over to the coagulation clinic at Mayo Clinic in Rochester, MN (mind you I live in Nebraska, a 5 hr drive to Rochester, MN) and have never been happier. They gave me a loose diagnosis of angeodysplacia and we were searching for the source until the bleeding just stopped, but we are now ready for next time. The point of this rant is that you have to take control of your healthcare. If you feel as though a doctor is not informing you in a way that makes sense to you or is ignoring your drive for answers go to another one; I like to remind doctors that they are working for me and that I chose them.

As for directly answering your post, yes it seems that the doctor is giving you little to go on. I looked up a bit on HTC's in Australia and got this site, looks like there are at least two in Perth. As for the medical alert, my mother has type 1 and does not wear one, me on the other hand never takes mine off. It kind of up to your type and how comfortable you are aka worrying you are. You need to go to a doctor that will answer your questions anything less only hurts you, the doctor feels no pain.

If you are not happy go for second referral. I did and it was the best decision ever, I am in a specialist centre in Edinburgh instead of my home town. According to the first hospital I was the worst type with no symptoms ( you figure that one out) would of quite happily given me treatment without my consent ( no joking) and then make me feel bad for speaking out! This centre did the multimeter test and ruled out type 2 & 3 out, you can have low levels of vWD if you have type o, I am borderline between this and type 1. I had a son by c section by choice because I did not trust haetamolgy if something went seriously wrong in my home town hospital (was only going to take blood for testing at the very last minute in a labour if an emergency section was needed and I had to say no, it is done on admission) they just did not have the foggiest idea what they were doing.

Thanks for all your help. It’s so nice to hear all your stories. I have booked in for a second referral with a new Haematologist. So hopefully he can get a copy of my record from my other Dr and then do something different from there. My biggest fear is that I have passed this on to my girls. My eldest is 4yrs old and she is constantly covered in bruises. She did have an accident and split the top of her head which required glue and it bled a lot but I was not diagnosed at that time. I’m hoping he can help me with that too.

Hi Perth Mum,

I am another Perth Mum! My daughter has just been diagnosed with VWD and, just like you, I have received very little information so far about what this all means. Her Haematologist is not very forthcoming with information and told me to 'Google' the Haemophilia Foundation website for information... and that was that! There is not really a lot of information on VWD on that website, so I have been trying to piece things together until our next appointment. We also do not yet know what type/subtype my daughter is and the frustrating part is that I know those test results arrived back two weeks ago we have heard nothing yet. Every time I call, the receptionist says that he'll call me right back and then... nothing. I still haven't got a call back from him two weeks later - let alone another appointment.

On a positive note, her new medication seems to be making a huge difference to her symptoms. Finally! Now I want to know if others in the family should be screened too?

Please let me know if you find a good Haematologist. I think that would make all the difference! Good luck! :)


Perth Mum said:

Thanks for all your help. It's so nice to hear all your stories. I have booked in for a second referral with a new Haematologist. So hopefully he can get a copy of my record from my other Dr and then do something different from there. My biggest fear is that I have passed this on to my girls. My eldest is 4yrs old and she is constantly covered in bruises. She did have an accident and split the top of her head which required glue and it bled a lot but I was not diagnosed at that time. I'm hoping he can help me with that too.

Hi Perth,

It's not easy, I know.. but just stay strong and hang in there. You're not alone. Hope your second check-up would go out well.

Best wishes,

Mary

Hi Perth Mom,

I'm new to the group, and though I don't suffer VWD, I am learning quickly just reading all of the discussions.

I'm not sure if this is a solution to the iron deficiency, or enough of one, but like many, I was raised in a house where cast iron skillets and pots were used for preparing food. When these were replaced with the nonstick pans, iron deficiencies became more prominent throughout the world.

http://www.ncbi.nlm.nih.gov/pubmed/12859709 This link may not be highly conclusive, but for NIH to even consider a trial, they had to feel it was relevant.

When we purchased a smooth top stove, we stopped using cast iron skillets, per manufactures recommendations, but after learning my 4 year old grandson was deficient, we found one by Bobby Flay the chef, with a flat smooth bottom and bought it, being thoughtful to use it to prepare food for him when he is here.

It is my understanding that the medical bracelets can have various information stored in a data bank that would include info that will not fit on the bracelet. I feel it is a very good idea to have this in place with a bleeding disorder.

Your frustration is perfectly understandable under such circumstances, and I hope that you are able to get some solid answers and solutions very soon!

Wishing you well,

SK

Dear Perth Mom,

I always wear a medic alert bracelet but only one of several hundred medical staffers asked about it even though I have been in two hospitals and two ERs recently. I asked a few why they didn't ask to see it and they said, "well you explained more about your disease than I know". One ER nurse even asked for my copy of the National institute of Health info on vWD types and treatments to use in her staff training. So, I wear the bracelet for the time that I can't talk. Mine says "Bleeding Disorder", vonWillebrands Severe", "Factor VIII, VWF inhibitors", ICE (in case of emergency, xxx xxx xxxx)" and my name and birth day.

I also carry dressings and lots of tape to make pressure bandages with me in each car and in my Kayak.

On your next trip to the doctor or the ER (ED) ask for a plastic nosebleed clamp, it works better than a clothes pin!

Good luck,

John the elder

Hi Perth Mum,

I was wondering how things went with your new Haematologist?

Our previous Haematologist was little help at all and very difficult to get an appointment to see. (On our first visit he took a personal phone call that went for 20 minutes right in front of us at his desk... no apology). When we asked for information about VWD he just told us to go and look at the Haemophilia Foundation website and sent us on our way. She was given no type or any other information. It was a horrible and frustrating experience.

I think my daughter deserves to find out what type she is and also more information about VWD, so we have just received a new referral to a different Haematologist. Fingers crossed! :)


di said:

Hi Perth Mum,

I am another Perth Mum! My daughter has just been diagnosed with VWD and, just like you, I have received very little information so far about what this all means. Her Haematologist is not very forthcoming with information and told me to 'Google' the Haemophilia Foundation website for information... and that was that! There is not really a lot of information on VWD on that website, so I have been trying to piece things together until our next appointment. We also do not yet know what type/subtype my daughter is and the frustrating part is that I know those test results arrived back two weeks ago we have heard nothing yet. Every time I call, the receptionist says that he'll call me right back and then... nothing. I still haven't got a call back from him two weeks later - let alone another appointment.

On a positive note, her new medication seems to be making a huge difference to her symptoms. Finally! Now I want to know if others in the family should be screened too?

Please let me know if you find a good Haematologist. I think that would make all the difference! Good luck! :)


Perth Mum said:

Thanks for all your help. It's so nice to hear all your stories. I have booked in for a second referral with a new Haematologist. So hopefully he can get a copy of my record from my other Dr and then do something different from there. My biggest fear is that I have passed this on to my girls. My eldest is 4yrs old and she is constantly covered in bruises. She did have an accident and split the top of her head which required glue and it bled a lot but I was not diagnosed at that time. I'm hoping he can help me with that too.

Hi Di.

My appointment has been pushed back to the 28th of October!!!!!!!!!!!!!!

I am extremely angry about that but I also understand he has a lot of patients. Can you tell me who your daughter went to see? I really do not want to see that Dr.

Hi, Perth Mum,

I’m like you. My body doesn’t absorbed iron well and it even takes a fair number of iron fusions to get it anywhere near normal ranges. To answer your question about the bracelet- YES get one. You are right. You may be in a position where you are unable to communicate to emergency personel that you have have vWD. In a situation, like a car accident, any injury needs to be considered a bleeding risk. Sadly, that may not be enough. I’ve learned over the years I have to be much more vigilant about getting across the fact that I have vWD. Hospitals in the USA have coloured wrist bands to indicate drug allergies and other risk factors. I assume that AUS does as well. Make sure they give you one! I also don’t just casually say “I have Von Willebrands disease” anytime I have to give medical history. I explain to them that it is a blood clotting disorder and that I could have serious complications if I start bleeding. That being said, when they ask if you are allergic to any drugs make sure to tell them because of your vWD you are not able to take any drugs with aspirin, ibuprofen, NSAIDS or heparin because these increase bleeding risk (can make your period bleeding worse,too). Make certain to read all of your over the counter drugs and prescriptions to make sure they don’t contain these and ask the pharmacist if you are unsure. Most of what I have learned from having vWD I didn’t learn from a doctor, rather I learned from a medical emergency situation. The most glaring lesson being that most medical personel aren’t that familiar with treating people with it. As my hemotologist once said to me “unfortunately, most people will under-react to the situation.” You need to be vigilent about your care and a good hemotologist makes a world of difference. Wishing you well!


Hi Perth Mum,

I tried to get an appointment with Dr Ward, but he won't see my daughter until she is 16. So, it is back to the drawing board for us. I wish the GP who referred me knew that before I went through all the drama of trying to get an appointment!

Now we don't know who to see... Dr Jamie Price was our initial haematologist and he honestly wasn't any help at all and had no bedside manner. I would not recommend him.

Do you know of any other haematologists that may be any good in Perth? I just can't believe how hard this process has been.

Di

P.S. Feel free to contact me at:

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Perth Mum said:

Hi Di.

My appointment has been pushed back to the 28th of October!!!!!!!!!!!!!!

I am extremely angry about that but I also understand he has a lot of patients. Can you tell me who your daughter went to see? I really do not want to see that Dr.