Peds Hematologist believes my 7 year old has VWD

General
1

Hello,

My 7 year old little girl 'M' had some pre-surgery blood work done before her tonsillectomy and it was discovered her PTT was 77.3. Repeat tests at a different facility were also high. We were immediately referred to a pediatric hematology/oncology specialist who believes M has VWD. Can anyone help with some of my questions?

- Is a really high PTT common with VWD?

- They drew 14 vials of blood on Wednesday; how long does it take to get results back?

- She has never shown any signs of abnormal bleeding before; she's never even had a bloody nose. Is she just too young to have exhibited signs?

- She is very active in athletics; is this diagnosis going to limit her sports?

Thanks,

Worried Mom

2

Hi Worried Mom,

PTT is not always representative of vWD, however sometimes Dr. Look at the obvious tests first for bleeding and clotting disorders (PTT, PPT, TAG, etc.)

The vWD tests can take anywhere from 10 days to 5 weeks to get back in my experience.

My daughter and I both have vWD. IF she has vWD, please know that it doesn’t always mean symptoms are severe so try not to be scared. Typically it would be more dangerous If you don’t discover the possibility of a bleeding disorder and go into a major surgery. I’m glad they’re looking at this before her tonsillectomy. I had mine in my teens before I was diagnosed and bled for 21 days…which pretty much stunk.

A diagnosis of vWD is often very manageable. There are common medicines which have been around for a long, long time and are very effective, and there are medications which are newer and people have good responses with as well. Some major changes with vWD is just giving a little pause before doing anything major medical (dental work, surgeries, major invasive stuff) and taking a few extra precautions with injuries (broken bones, car accidents, head trauma, bumps and bruises have to be looked at, and treated differently). Menses can be a little different for young women with bleeding disorders. For us, it started earlier and lasts very long (normal, non-bleeding women typically have periods for 3-7 days) sometimes ours are as long as 3 weeks. If vWD is the diagnosis, your Dr. will test your daughter’s responses to various medications to see which works best for her in the instance of a bleed or injury.

If there is an HTC (Hemophilia Treatment Center) nearby, you may want to consider going there for clinic as it will likely provide the most comprehensive care.

Last: depending on severity of th vWD, your Dr may or may not put restrictions on your child’s sport. We personally dealt with a higher severity of vWD and chose sports with less contact, although this doesn’t avoid all injury. We chose soccer (as a forward not a goalie or defender because we felt that would be more contact). We chose softball (as a second baseman versus catcher or pitcher where more injury could possibly occur), we avoided sports like Hockey and Football because of the contact level. These are all things to discus with your Dr. If a diagnosis occurs.

The one thing I can give you to is this: it’s gonna be ok! The fact that you’re finding out BEFORE any major issues means that you have the ability to be an involved, proactive part of your daughter’s treatment plan. Please consider getting involved with your bleeding disorder chapter and they can provide you with support groups and guidance! The more involved, the more educated, the better off your child will be!

Last: if your child receives a diagnosis of vWD, both parents may need to be tested. vWD is an inherited bleeding disorder and one of the parents is the carrier…so if it were me, I would want to be informed incase anything major needs to be considered or treated as an adult.

Please take care, it’s gonna be alright.

3

Dear Worried Mom,

The response Kelly wrote above is great, with lots of accurate information. VWD is very complicated. I want to follow up for you on a few points Kelly already made.

The fact that you are finding out now is terrific! And that your daughter does not suffer from any symptoms is wonderful as well. If she indeed has it, push for the testing for you and her dad. You will want to know. I found out I have it when my daughter was diagnosed at 3 years old. Things that I always just thought were "normal" or that I was on the extreme side of "normal", such as the easy bruising and difficult periods suddenly made sense when I found out I had it. One of my daughters has severe VWD, yet has never had a nosebleed. So, don't let the fact that your daughter doesn't have nosebleeds confuse you, people's symptoms are different, or even non existent, and often go unrecognized, such as mine, but that doesn't mean they don't have it. It's way better to know before surgery or an accident! Depending on which parent has it, you will then want to have the grandparents tested. We found out my dad has it, and several cousins/nieces/nephews. It has answered a lot of questions for everyone (and my dad has had some scary bleeds, so it's good that we know).

In my experience the lab tests don't take that long to complete. It's getting the follow up appt. at the specialists office that takes awhile. They may call you with the results, which can be nice, except that because VWD is complicated, it's better to have the results explained to you in the doctor's office. When we were first dealing with this, a nurse called me with the worst news, that my daughter was Type 3 (the most extreme). This ended up being incorrect, but caused a great deal of stress before we got a more accurate diagnosis. (She has both Type 1 and Type 2N which makes her severe, but without a lot of everyday symptoms. It also makes her very rare.) 14 vials of blood is a lot, we have NEVER had that much drawn. You may want to ask them why so many?

Don't worry about the athletic/sports issue. If your daughter doesn't have any symptoms, then there is no reason why any of that should change. Both of my daughters have VWD. They have both figure skated for 3 years, done years of dance and gymnastics, and tried out anything else they wanted to (soccer, T-ball, basketball). As my Severe VWD daughter gets older, we may have to reexamine our sports choices, but for now, it is not necessary to let this disease control that part of our lives. I don't anticipate it being a problem for my "normal" Type 1 daughter. I do think a lot of times VWD patients naturally make choices that just make sense for their bodies. For example, when I was in high school, volleyball was always in the PE curriculum and everyone loved it. I hated it! It hurt my arms so bad, and left bruises. I naturally avoided it when possible. Now I understand. How I wish I had known about the VWD, so many things would have made more sense (and I could have gotten out of volleyball and not have dreaded PE!).

Take a deep breath! Everything will be okay. It is always a great reality check for me when I sit in the hematologist's office with the parents and children who are there for the oncology side of it, and thank God that we have something that is manageable and not life threatening!

Good Luck,

Frances

4

Thanks for the responses ladies!

I also thought 14 vials of blood was an extreme amount and so I'm curious to see the final lab results on the hospital's patient portal once they are finished. He said he was just testing for VWD at this time and would proceed with further testing if it turned out negative, so I'm not sure why so much blood from my little peanut.

The doctor also said he would call me himself with the test results so I'm thankful for that. I am a nurse, but have zero experience in hematology or oncology, having been a family practice nurse and or a computer systems analyst my entire career. I'm not sure I've ever felt more under-educated on a medical topic!

Its the waiting I think that is getting to me... hopefully I hear soon.

I appreciate all the support! I'm still very overwhelmed, but it will get better!

Thanks,

Holly

5

Great responses! 14 vials of blood is what I had taken when I did my initial testing. One of the tests alone takes 4-5 vials (I can’t remember which one it is). How long it takes you to get results back depends on the laboratory, as well. Because it is such a specialized set of testing, not all clinics do the tests themselves because it is too costly. Here in the USA, bloodwork may be sent to outside laboratories for testing and it is out of your doctor’s control when results get back to them. Mine was sent outside the state!

With the sports, she sounds good for now and some may be better than others. I, like Frances said, couldn’t play volleyball. My gym teacher sent me to hospital after gym class because he thought my wrists were broken after a volleyball game. For me nosebleeds were something that I would go long periods without them and then I would get them frequently but they were never really very bad. They got less frequent as I got older, too. Something you will learn about VWD is that everyone’s experience is so individualized. I wish you and your daughter well!

6

The peds hematologist/oncologist just called me. He's gotten back some of the lab results and says it definitely shows she has VWD, but she also has "something else" going on with her blood so we are being referred to a different peds hematologist at the same facility who specializes more in blood disorders. Thankfully, we live about 1.5 hours away from the Cleveland Clinic (where she's being seen) which is one of the top 3 hospitals in the nation, so we will be able to get all the care we need there. They also run all their own tests and are actually the reference lab for most of Northern Ohio, so that should speed along results.

He says M will have to have complete functional testing, and some other things and that Dr Onimoe will be able to explain everything more extensively at our appointment.

Thanks for all the advice! I really appreciate it!

7

I looked up the labs myself today on their patient portal... anyone have experience with these tests and their results?

Factor VIII: C Assay - low

Ristocetin Co-Factor - low

Von Willebrand Ag - low

Von Willebrand Mult - decreased amount with normal pattern

Protein C Imm - High

Platelet Neut - Positive

Hex Phase Screen, Confirm and Delta - all high

All of the Protein S tests were normal as was the DRVVT

8

Dear ValiantDream,

What a nice screen name, hope and strength combined! From the earlier responses you can see that children live pretty normal lives with vWD and each patient has their own issues. This condition is variable with people and variable over time. It is also controllable, although the control methods may vary as time goes by. A new medical source for the vonWillebrand factor was just announced and will be available soon. Good News!

I have type III- acquired, diagnosed at age 69 due to some sort of stem cell mutation. I put away my ax and gas chainsaws but my wife and I have recumbent 3 wheel bikes and exercise often. I don’t rollerblade! I am now 74 and haven’t had an issue for over a year!

The first four tests are consistent with some type of vWD. Your doc. should tell you which type you have as the treatment is a little different for the type and severity. APTT in my case is very important to test before any minor surgery. My serious dental work is done in a hospital setting, luckily only one time.

The Mult test (probably Multimere) shows a normal range of sizes for the clumps of VWF molecules that circulate and help protect the F VIII proteins necessary for coagulation. The Factor VIII molecules are subject to being attacked by other molecules in the blood and the clumps of VWF form a little box around the F VIIIs.
Normal distribution suggests the presence of regular VWF, just not very much of it- normal is good in this case. Low F VIII goes with low VWF for the reason it gets destroyed out in the open. But you can also have normal VWF, (Rist.C and VW Ag tests) but the multimeres (think clumps) are the wrong size and not a normal distribution and can’t do their job of carrying the F VIII molecules until they are needed. Those results go with the type II vWD of which there are several types.

I have had several of the other tests but I am not familiar enough with them to say anything.

Cleveland Institute has one of the best reps in the business. Look on their website for information about vWD. Also google "treatment for von Willebrands disease and download the NIH information. I carry a copy whenever I go to a doctor or ER. You should too as you can tell that many medical professionals are clueless about vWD and you need to be proactive in assessing their knowledge before decisions are made regarding treatment.

Especially important is having a hematologist as part of the surgical team!!! I had an arrogant surgeon almost bleed me out because he was @#$&&( stupid. You are on the right path so keep on and be proactive with the practitioners.

Hospitals have ombudsmen to facilitate issues between staff and patients. Find out who the ombudsmen is and get their phone number in your little book before you are admitted!!! I had to call on them when the hospital pharmacist told me to my face that my medicine was too expensive for him to order. It was ordered 60 seconds after the ombudsmen ( a woman) let go of his shirt collar! If medicare or medicaid is involved, they also have a number you can call if the hospital is giving you grief. It is listed on one of the papers you sign on entry. (Keep all the paperwork) I have a looseleaf with all my recent tests and diagnoses with me as well as a laptop hooked into the hospital wifi. Dr. Google knows all and will tell you, just ask.

I also carry a collection of gauze pads (4X4)s and good tape in my kayak, on my bike, in each car and one to go if someone else is driving. Although Stimate (desmopressin) doesn’t help me very much, I keep it on hand and with me on trips to the dental hygienist along with Amicar. Stimate stimulates the release of VWF from cells lining your blood vessels and Amicar (Aminocaproic Acid) stops blood clots from being broken up by enzymes in saliva. All that effort did and does not take very much time but being able to put a pressure bandage on a cut or a scrape quickly cuts down on the emotion of seeing blood all over the place and keeping emotion under control is very helpful in controlling bleeding.

If you didn’t guess, I was a science teacher--------sorry for the exhaustive reply! Say hello to your daughter for me.
John the elder

9

Yes! John the Elder said it well. The most frustrating thing about VWD is dealing with other doctors for other treatments and tests. You sound like you have an excellent hematologist. That alone is half the battle. You will find you are going to have to be a strong advocate for your daughter with doctors in other specialties. Some “think” they know better and some are admittedly completely clueless as to how to proceed with treatment. It is especially important in an emergency/ ER situation. I had to get an endoscope/biopsy of my stomach. It is normally done in the gastroenterologist’s office. I told the doctor at least three times that I needed it to be done in the hospital. She argued with me that it wasn’t necessary (I think she thought I was being paranoid because it was right after Joan Rivers died having the same procedure done in an clinic). I persisted and told her “when you phone my hematologist he is just going to tell you I need it done in a hospital setting.” I was eventually proved right. You will find a lot of discussions in this forum that focus on the frustration of coordination between doctors and your hematologist. Your daughter is young now, be aware that when she starts menstrating that you might need to find a good gynecologist. Be prepared that you may have to put her on BCP at a young age to control bleeding. And as John said, a good dentist who is knowledgeable would be a good idea, too. I always warn my hygienist that I have VWD and that my gums may bleed when she does a cleaning, especially when my blood numbers are low, otherwise I get this big lecture on how my gums bleed because I don’t floss enough. I don’t know about others in this discussion, but I’m also a little leary about doing activities on vacation outside of the USA or other large cities where I might possibly get injured. A lot of American doctors in major US hospitals are clueless as to how to treat VWD and I’m afraid if I’m in some foreign country or small Caribbean island it may be next to impossible to get treated correctly in an emergency. A lot to think about but stuff I wish someone had warned me about.

10

Hey everyone -

More of M's lab tests came back. Her PT PTT Elevation Panel came back. Her CBC was normal, including Hg and Hct and Platelet Count. However, her Lupus Anticoagulant was POSITIVE and her VWD factor and Factor VIII were decreased. Her aPTT was also high.

Is this normal with VWD or is there possibly something else going on? Anyone seen this before?

Thanks!

11

VWD is diagnosed looking at the whole picture and not individual tests. It may be a matter of the activity or function is not working well (qualitative diagnosis) or physical factors such as low platelet counts, etc (quantitative diagnosis) or a combination of the two. Your doctor needs to look at all of the tests results because there is no clear cut test to diagnose VWD. I can only speak from personal experience. It took a long time for me to find a doctor who could diagnose my VWD properly. I had testing starting from when a was a teenager and had bleeding and bruising problems. All of my tests would always come back “normal”. Years later after I had a bad bleeding episode following a surgery, I was retested again for the millionth time. This time I had a hematologist who understood what was going on. When you look at the lab results and they give you a “normal range” and they flag results on the report that are outside that range as being high or low. My doctors had only been looking for flags and they missed the whole picture. Although all of my results were in the normal range, platelets, activity, etc. they were all on the lower end of the normal range. So a system that on paper looked “normal” was in fact operating at a below optimal capacity. To complicate matters my numbers can go up and down drastically depending on when I get the tests done such as before or after a menstrual period. There are so many different combinations of ways to diagnose VWD, I’d wait for the doctor to give you their opinion on diagnosis. I know it’s easier said than done to relax about numbers but I hope you can take your mind off of it and get a chance to enjoy the holiday season. Happy Holidays!

12

A beautiful day in central Florida, today!

Thanks for reminding us about “forethought” before going far from home if you have had serious bleeding events. Some more experienced patients carry IV equipment and P-humate/alphanate with them but I don’t know how they work that out.

I wear a medic-alert bracelet with a diagnosis and warning on the back in case I am not conscious when I get to the ER. Since I am a type III, and my bucket list is pretty long for a 74 year old, I keep pretty close to my home doctors. Certainly no Cruises are on my itinerary! I agree with VWDgirl, totally.

Hgb and HCT being normal is good!!! If I get a GI bleed the Hgb drops and the HCT goes off range. If I had an internal body cavity bleed the drop in Hgb and change in HCT would be a good “heads up” to me and the docs. I carry a scrip for a CBC (complete blood count) with me so I don’t have to put up with a $10000 ER fee.
I also have a Walgreen blood pressure meter which I bring to the doctor once a year to check against what the Nurse tells me my BP is. My medical people encourage that type of proactive behavior. If you are losing blood somewhere your BP will drop below where it usually is and you will feel unusually weak.

I also purchased on EBAY, a hemocult test kit ($80 odd bucks for fifty tests). If my stool is dark, I immediately test for +hemocult indicating a GI bleed somewhere above the colon. That saves a lot of grief if you eat a big dish of blueberries and then look at the toilet the next day. Appearances indeed can be deceiving! …But you immediately know when the test comes back negative. Slow-release iron tablets can cause a positive test and dark stool so keep that in mind. I have gotten Iron sucrose infusions as my body doesn’t do a great job getting iron from food. I do eat dark green vegetables for iron.

My APTT (PTT) always runs high (above the ref. range) and unless you yell at the practitioners like VWDgirl did, they won’t think a “38” is so bad. Been there and lost 3 pints of blood.

The younger docs are trained to use a team approach. Make them work as a team. This time, you know more than they do.

I write out my questions on paper, keep a copy on the laptop, make a copy for the doc and make him go through the sheet line by line. They actually like the fact that I am prepared for my visit and more gets done in less time. My wife is always there to provide “presence” and that encourages good bedside manners.

Google the tests so you can understand which are the ones you need to keep an eye on and which ones are not central to your issues. Peace of mind is a valuable commodity, nurture it.

Don’t go on a Homeopathic/natural foods kick. Some supplements come with severe bleeding side effects and interactions with drugs you may be needed.

Loving my retirement and wishing you all a happy new year.

John the elder

13

Yes! Get a medic alert bracelet as Johntheelder said. Even though I wear one for VWD and drug allergies, when I have to go to the ER or get admitted in a hospital I make them put their color-coded bands on my wrist. Some nurses will tell you that you don’t need one because you have a medic alert bracelet but I make them do it anyways because all personnel is trained to be conscious of the colored wrist bands and sometimes they make you remove your jewelry for surgery or testing. Some hospitals will do it anyways as part of their patient protocol.