Hemophilia
Our story (and what is hemophilia)
Our experiences:  Pregnancy and birth
Everyday life updates, July 29 2007
Medical experiences, June 12 2005
Insurance
Daycare
Hemophilia Links
Tips and Tricks (new july 07)

Our story
I wasn't sure if I should say anything about hemophilia, but when I started searching the internet I could not find a lot of information of people personally and if it is even one person we can help with our story and experiences it will be worthwhile. And it is a part of our lives, so why ignore it ?
I welcome any comments, questions and/or advise about this subject. I think sharing experiences about hemophilia whether it is about raising a child or dealing with issues (medical and other) can only help you.

What is hemophilia
My dad has hemophilia, a bleeding disorder. It means he misses one of the factors in his blood (in his case the so called Factor VIII (8)) that helps to clot the blood. As a result he bleeds longer and more serious and needs Factor to help the clotting. However, a lot of people think that hemophiliacs therefore bleed to death when they cut themselves, NOT TRUE !!! The biggest problems are bleeds in muscles and joints and when untreated they can cause a lot of damage.
Hemophilia is an x-chromosomal linked genetic disease; I inherited that from him and am called an obligate carrier. I am not a patient, although my Factor VIII is on the low side and I have been an easy bruiser (even more so after Julian was born, since my factor dropped to 49 %). We knew that when I got pregnant we would have 25 % chance of a son with hemophilia and when I got pregnant and we did a CVS in my 10th week that was the result. We decided to proceed with the pregnancy, Hemophilia is not a life-threatening disease (anymore) but we knew it was not going to be easy.

Our experiences
I will add to this regularly but will only mention some things I think are worthwhile. They may be unique to our situation and to our child, every patient is different. But at least it gives you an idea of what we are doing.

TIPS AND TRICKS


Pregnancy and Delivery
The fact that we were expecting a son with hemophilia unfortunately meant that I could not deliver where I wanted in the birth center. They were afraid something would happen and did not want to take on the risk (liability is the word here). I was considered a high risk pregnancy (I still think that's not true, but hey, try to argue with them) and had to deliver in a hospital. Using vacuum extraction and/or foreceps with hemophilia is not possible so when anything would go wrong it was going to be a C-section. Luckily that was not necessary, but because I had several lacerations they ended up giving me Factor (my level had actually dropped to about 49 %) ! The only precaution they took with Julian was to have a head-ultrasound done and make sure he did not suffer any trauma from the birth. I think that's only done in the US, because a Dutch doctor never heard about this and it is to my knowledge not routinely done in the Netherlands either. Julian was fine however, no bleeds, no bruising, thanks god. They were supposed to take a cord blood sample to check his factor level, the blood was drawn, but as we had to experience many more times; the lab messed up and did not have "enough" to check it.
I just found an interesting document on the WHF site with information about pregnancy and delivery for carriers and that while I complained today about not enough information being available about this subject. Check this paper

General
The first few weeks were very stressfull, you don't know yet what will give your child a bleed (and I still don't know after 10 weeks) and every little thing makes you pay attention. He hit his head one night on a collarbone (be aware of those lolling heads !) and had that "I'm hurt" cry. I was panicking and ready to go to the ER, but he was fine. It takes a while though before you feel safe enough and even then I think it's better to be safe then sorry. I check him every time I change his diapers and bathe him to see if there are any bruises. I also "frisk" him to check for hot spots and swelling; a sign of bleeds and watch his movements, is he moving one arm or leg more than the other ?
We got the advice from our HTC (hemophilia treatment center) to order some factor and have it in-house in case we need to go to an ER which probably will not have any factor available. So we're looking now into where to get it (the HTC has a pharmacy, but how will it be reimbursed, home care company is another option, but they might not be covered), how much and which kind. Luckily the people at our HTC are always willing to help.
July 6, we ordered Refacto from Wyeth with a homecare company. They will deliver it and also take care of infusions (other than emergency situations). May seem a little early, but I like to have everything in place before something happens. The homecare company also took care of talking to our insurance and straightening that out, a great help !
July 14: the homecare company (see link below) came by to deliver the Factor, the supplies and to introduce themselves. Mike, the nurse and Cazandra were very nice, answered all my questions and seem very professional and pleasant. It gives me a lot of comfort to know that we can count on them in case of. They also can provide presentations to the daycare or other people and in time will help with teaching to infuse. Mike looked at Julians veins and he thought it would be no problem. At least that is a good sign.
August 8: Julian has a small bruise on his hand. We don't know what caused it, could be a toy or lying on something. It is not big and doesn't seem to bother him, but it kind of reminded me again that we have to be careful with stuff. My parents took out a hard plastic rattle and 2 buttons on the playmat, just to make sure.
August 27 : We discover a bruise on his ribcage. It's not big, but has a distinctive bump on it. A few days later when it starts to spread it gets a lot bigger and it looks scary. Again, he is not bothered by it, you can touch it and he does not react. We don't know what caused this, could be a lot of things.
October 25 A little white stripe is showing on the lower jaw, Julian is teething. I order a bottle of Amicar just to make sure but it looks like he will be okay for now. He starts to crawl and can get anywhere he wants. We have carpet, but also foam pieces on that and pillows against the coffee table and the cabinets. He starts to know how to get around those, but they still work for a barrier. I still carry him around in a sling, and that is no problem, no bruises or cut offs showing. He still scratches himself regularly and that leaves some blood but it usually clots before we see it.
Nove 6-8: we attended the 55th annual meeting of the National Hemophilia Foundation. Not only did we hear and see a lot of useful information, we also met some very nice people that have kids with hemophilia so we could exchange some information. Hopefully we'll be able to stay in touch.
Nov 16 Julian has a nasty bruise on the underside of his upperarm. It's red and blueish purple and we don't have a clue how it got there. We put an outline on it with a pen to see if it gets bigger, but it doesn't look like it. We also had a little scare because we found out he was bleeding in his mouth. Probably from chewing on a pen. We only noticed because he was chewing on a stuffed animal afterwards and we saw the blood. Luckily it stopped very quickly, but I did have some panick thoughts about giving Amicar. At least we have it in house and can give it if necessary.
Dec 7: We start noticing more and more bruises on him; legs, arms, chest, it seems every day there is a new one. Since he crawls his potential for injuries is bigger ofcourse, he bumps his head and rolls over and onto toys. It will get worse and I just try to reason that if he doesn't complain about it (you can touch the bruises and he doesn't even flinge) we should be fine too :)
Jan 11, 2004:Julian is a very active boy, he crawls, stands up (and falls down), climbs on and over everything so inevitable we see bruises on his shins and elbows now. I noticed that he didn't have that many when he was home during the holidays, but we have a very padded environment; carpet and then foam mats in his playpen. He bumps his head now and then but seems to be fine.
Jan 18, 2004 Big scare, daycare called that Julian had fallen on his head. I panicked first, then thought, okay, ask the right questions; where was he, what was he doing, what was the surface, did he cry, how is he now etc. Turned out he only fell from sitting down but on the vinyl instead of the foam they so conveniently put down. After a call to the HTC we got the advice to watch him, but he probably would be okay. And it seems he is, but nevertheless it left me quite distressed for a while. I think it's really hard now giving up "control" to other people to care for him and you can't see what they do and what he does. It's one of the reasons i would like to stay home with him (not the only reason though). As far as that goes I think parents with children in a special situation just have it a little bit harder.
Jan 25, 2004 Seems the scares get more frequent. Thursday I noticed a big bruise on his sternum. It looks quite yukky and got a little bigger. Again, he seems to be fine. We keep an eye on it and rub arnica-gel. I'm not sure if it works, but it won't hurt him either.

Feb 16, 2004 We had a big scare today, Julian fell and hit his head several times this week, but today he fell backwards in the playpen and hit Marco's knee. For the first time we could definetely see and feel a bump and the beginning of a bruise. So we called everybody, the nurses from the hemophilia center (who told us to get our home nurse in), friends (it's always good to have people you can call and talk to) and eventually the home care company. The nurse came out, looked at it, then talked to the hemophilia center nurse and decided it was not necessary after all to infuse, phhh ! We should again watch him for any signs of pain, discomfort or unalertness.
Feb 22, 2004
Julian has been fine since last week, so we're hoping it was okay.He has lots of bruises on his knees and arms now, and even one on his back ! Oh well, if that's it, we should be fine. We got a call from the HTC to ask if we wanted to participate in a pup (previously untreated patient) study for Advate. Free factor and supposedly the chance for inhibitors is lower with this. So we said yes, good planning because our current factor officially expires end of this month. You can keep them for a lot longer, but ofcourse that's not the required way of doing it. Unfortunately we cannot "trade" our current factor if not used, but we can donate it to the HTC who can give it to patients with insurance problems.
Feb 29, 2004
New, free, factor has arrived. I just realized that we will need more when we go to the Netherlands since they don't have it over there. We notice a lot more bruises, his whole leg from knee to shin is covered and he's got one on his side, back and arms. So I try and put his kneepads on as well when he crawls a lot. Here's a picture of Julian in full gear, believe me, he doesn't go any slower because of it !

April 12, 2004
2 Days before his birthday and Julian has the biggest bruise ever, actually it really looks like a bleed and scares me a little bit. It's on his butt cheek, probably from falling on something and it clearly hurts him, because he cries when he falls on it and if we touch it. I feel so bad for him. We will watch it closely and if it gets too much I think we should go for treatment....
April 25, 2004
Sometimes you just have a Jonas day when everything goes wrong. And if your child has hemophilia it seems even worse because they bear the marks of those incidents quite obvious and for a long time. Julian had multiple incidents on Friday; he fell his teeth through his tongue. The blood sprayed everywhere and it bled pretty bad. Fortunately I did not panick (that long) rushed him over to the kitchen and put an icecube in his mouth. He didn't want to, but tough luck and it helped, the bleeding stopped after a few minutes. His tongue is purple now, but he eats and talks and doesn't seem to be bothered. He also fell and hit his head (again), no serious results there. Then he fell and hit his face (eyebrow, cheek) on the handle of the oven drawer... I put ice on that too, but my luck didn't last, he's got a blue eye above and under his eye. Well, that just shows you that sometimes you just have to take a deep breath and go with the flow. You cannot prevent everything from happening and I refuse to hover over him, he will have to learn, even though that means he sometimes will hurt. Not a case of bad parenting, but you need to have a life and make your child independent too.
May 2, 2004
First infusion !! Julian's tongue did not get better, rather worse and did not stop bleeding anymore. So we decided to give him factor after all. Julian did not seem to be bothered as much by the prick, but more by the tourniquet, he was a little trooper. I cried (not during but when we decided to do it), but hey, that's all part of being a mom. He had 2 infusions and his tongue seems healed already. He will need to keep on taking the Amicar, which is yucky, but cranberry juice is a good disguise. HTC called, Julian's bloodwork came back and it looks like he has 2 % factor VIII. We will have to see if this is really so, but if, that would be great news and he would be moderate instead of severe. Ofcourse these tests sometimes are incorrect so we will for now just go on as had he severe, but we're hoping that his 2 % is true.
June 6, 2004
We are back from vacation. We took 5 doses of Factor, but luckily did not need them. Before we left I checked where the closest HTC would be, I know them in the Netherlands, but in Denmark I didn't. The WHF passport is very handy for that, but we found that the Danish Hemophilia Society actually had another HTC listed that was closer to where we were staying. So I think it pays to check out local/national hemophilia societies as well, but make sure the information is updated in all cases  !
Julian did really well, he walks more confidently and doesn't fall as often anymore. We did put his helmet on several times, just to be sure; better safe than sorry !
July 11, 2004
Again we had to call in the nurse for a tongue bleed, it seems like this is the only thing till now that Julian has trouble with. And ofcourse how it happened was really dumb, he was playing with a basketball and tripped and fell. We gave only one infusion, and keep on giving Amicar for 10 days (he does not like that). It has not started bleeding again, but it's not gone either, so we will have to check it carefully. We bought some softplay things, a step, a big square, a slide and a "rollercoaster" and he absolutely loves it. We put foam mats under it in addition to the carpet and he goes up and down and has lots of fun. He will sometimes "jump" to his chair, which is pretty daring, so we made sure to put big pillows around the "play area" as well. No more playpen, so there is lots of things he gets into now, we just have to be vigilant.
July 18, 2004
Julian's tongue is still not completely healed. We did 10 days of Amicar, thought it was fine and then yesterday he again had a little blister with blood. So we started on the Amicar again. I'm not sure how long or how often we should do this, but it looks like it's almost healed but just needs that little something. We give the Amicar with Cranberry juice and Julian just drinks it.
August 15, 2004
Julian fell about 2 weeks ago against a steel crate at school. He did not cry, and the bump did not develop until a few hours later. But it started getting worse and worse, he developed 2 black eyes and a real Klingon profile. Finally on Wednesday school called and said it looked to get even bigger so we finally called up our hematologist. He immediately ordered Factor (for 8 days !) and a CT scan to rule out intercranial bleeding. Luckily the scan was negative, but it could have been worse. This will teach us (especially me) in thinking that it will pass. When he bumps his head next time I will call right away and hopefully it won't take 8 days then.
August 22, 2004
For a split second I was scared that Julian had his first joint bleed today. Marco found that his right ankle was blue and swollen and he did not like us to touch it. I'm not taking any risk anymore so we called the nurse who said; infuse. But when the infusion nurse came it she said right away that it didn't look like a joint bleed nor did he act like it would be (all this time he was still walking and turning and on his tippy toes). So luckily we did not need another infusion. Better safe than sorry.
January 17, 2005
It's been a while, which only is good right ? Julian is doing fine, he moved into a new group at school with kids his own age and really likes it. We can tell though that the teacher is still kind of weary when it comes to treating bumps and bruises. We should get the nurse to come in again. Julian still wears his kneepads, but not his helmet at home. He knows how to fall and in general will brace himself with hands before he hits his head !
June 12, 2005
Julian is now 2 and even though he had bleeds for the past 3 months every month, everything is still going fine. No joint bleeds and he is active as ever. He still wears the helmet at school. His shins are always covered in bruises and sometimes we will find them on his back and sides too. He went through a short period where he would have them under his arms, that is over now. When he gets an infusion, he helps with the tourniquet and sometimes will say where he wants to be stuck, he's getting the hang of it. At his last checkup we encountered more "weird" values. Twice before Julian had about 2 % factor VIII, this time he only had 0.7 % ! We think it may have to do with breastfeeding (I stopped around his 2nd birthday) but we have not been able to find anything that would support this theory. Who knows, we may have caught on to something. Julian has been treated for another tongue bleed (one does the trick) and some weird complaints for his hip and shoulder and a big bleed in his underarm. He takes his Amicar "straight" now and seems to like it !! I guess you can get used to it :)

 

September 3, 2006

I know, a long time since my last update, but it's so much part of our life now, that I sometimes forget. Julian has been doing pretty well. He averages about 1 bleed a month, not always big ones, so sometimes we have 2 or 3 days of infusions and then 2 months without an incident. His later test results have all come back under 1 %, so we are convinced the breast feeding had something to do with his elevated levels in the beginning, since they dropped off as soon as he stopped nursing. We are still doing on-demand therapy and that works fine. He has not developed a target joint and as long as that is the case, I think we will hold off on prophy. We've seen quite some hospitals during trips and vacations; we were in Austin, Oslo, and lately in Toronto. We never had to pay, until we got to Toronto; 500 dollars for an ER visit and that while we brought the medication, plus the peripherals and they basically "used" us to teach the attending, the doctor and the nurses. They should have paid us !! Anyway, that was a good motivation to start learning how to home infuse. I did a session with Gail and then stuck her successfully, then we did another one this week, when Marco stuck me (slowly, but good), and I stuck him (I had to wiggle and then it worked). Now we have to practice more on eachother with saline and then we might get to Julian. He just has such small veins that I wonder if we would hit any of them, but we should stay positive. Julian is a very active boy and we still try not to keep him from doing anything. He loves swimming, which is good for him, but also soccer, which did cause an ankle bleed lately. Time will tell how he will do. Julian helps with the infusions; he cleans the vein, takes the tip off the needle and even removes the needle from the site. When Gail came to teach me he said;" I want to do it myself". I think he will be ready for this pretty early. Thank goodness though that he is so good about it; no crying, no fussing, he sits and gets it done, we are very proud of him !

 

April 2007

I guess the less I update, the better it is ??? We have been doing prophylaxis for about 6 months now. Julian is still very good about it; never cries, whines or even cringes, even when he needs 4 sticks !! We have started to infuse him and it goes up and down. I did it successfully 3 times in a row (even without a nurse attending) and then I couldn't for 2 weeks. His veins are so tiny and he needs to eat and drink and move before we can even get to some of them. He has 3 good spots, 2 on his left arm and one on his left foot. We would like to have some more, but he is becoming a little more pudgy, We do rotate these 3 spots so we don't use them every time. We only have 100 homevisits that will be paid for by insurance, so it's good if we can keep under that number. And, we are going on vacation and would like to keep him on prophy, so we really have a good reason to do it ourselves.

 

July 2007

Well, we are there. As of end of April both me and Marco infuse Julian. It's been so much easier. Don't get me wrong, our nurse Gail was wonderful and usually would come when it suited us, but still; we had to be dressed and ready when she came and most important you would always have to wait. Now we infuse basically at the same times, but it's no problem when we're later or earlier. And, in emergencies (which hardly ever happens anymore) we can just infuse him at home and then call the HTC. It takes away a lot of the hassle and panic. He still only has 2 good spots unfortunately, but they are holding up for now. He has not had a bleed ever since we started prophy, but he did have some good big bruises, which luckily did not result in any other problems.

Here is Marco infusing Julian in the morning (yes, Julian is still wearing pj's :)

MEDICAL
PKU or heelstick
This was the first hurdle. Surprisingly he did not bleed from it right after birth so they ended up sticking his hand (twice) and that clotted before it got to the lab ! It was good enough for the pku, but they did not get to do his factor level. He had a bruise on one of his hands for about 3 weeks from squeezing it.
The second PKU at 10 days was the same deal. They had to stick him 4 times to get enough blood, and this while the nurses were freaking out he would bleed all over the place ! I was in tears and he was screaming by the second stick and I told the nurse to stop. Luckily they brought someone in who knew how to do it right and she did great. No bruises or problems from those sticks.

When Julian was born they thought he might have hip instability because they heard a "click" while moving his leg. Therefore we had to go for checkups at 3, 6 and 12 months and take X-rays. Luckily it turned out everything was fine, and we don't have to go anymore.

Immunizations
Julian has had several immunizations till now, we're spacing them out. All were given subcutaneously (NOT in the muscle) and that went fine. No fever, just a bruise on one of his legs, probably from squeezing more than the stick itself. Make sure you bring ice or ice-packs to cool the injection site right away. It helps keep the swelling down. I also give him Tylenol about 30 minutes before.

Infusions
Julian has had a few infusions till now and we are on a 8 day cycle now for a head bleed. Unfortunately the nurse that was great with sticking him left and his replacement is not all that great. Not only does she need a few times to get it, she also wiggles the needle, needless (ha,ha ) to say that Julian gets very upset. I'm not sure what to do about this. I can't stick him myself, but I think that somebody who does this for a job should be a little better than her. I probably will call the homecare company about this and complain.

CT scan
Julian needed a CT scan because of a head bump. We did not know that they had to "strap" him down which made him very upset. I think it helps a lot if you have a good nurse that understands that children are scared (we had a bitch, not a good experience), and make sure you have somebody with you too to hold on to. You probably have to wait a long time in the ER, bring food and drink if you can, and make sure you always have something in your car or diaper bag.

Insurance
During a workshop for new parents of children with a bleeding disorder we heard some scary stories about lifetime caps and how one family with a 3,5 year old already reached a million on their 2 million dollar caps. I think this is one of the most stressful problems with a chronic illness. You need good insurance, which limits the jobs you can take and maybe also what you can do. Till now our insurance has paid for everything and with ABS we do not have a limit (wonder how long that will last ?).
Our homecare company officially has a 700 dollar copay, but they waive it. So instead of us paying it, they do. I guess they will get enough money out of it once we start doing prophylaxis :)

Aug 1, 2004
Well, I guess our luck couldn't last. Our insurance probably didn't change, but the homecare company was taken over and now they are telling us we have to pay for every nurse visit, factor and ofcourse a deductible of 700 $ per year !! I called them, but nobody knew exactly what this meant so I refused to give them any more information they wanted until they have figured out how it goes. Anybody else had to deal with this, and how does it work when you want to do profylaxis ?

Jan 17, 05
Back in November we heard that Julian came out at about 2 % factor VIII twice in a row now, so he was "officially" declassified to a moderate patient. Not that it means much, but at least the chance for spontaneous bleeds is less which we are very grateful for. They just are wondering know whether my dad is really severe, since the severity should be genetically determined so the fact that Julian has 2 % is "impossible". My dad will provide more data after his next checkup.

June 12, 05
Well, our luck did not last, since his last test came back at 0.7 %, so I guess he's back at severe level. He may be one of those few people that fluctuate, I guess we will have to wait till next time. Truth is that he bleeds a lot less than other children with a severe level, so maybe we are just lucky. We had another "glitch" with insurance, but that turned out to be their fault. I kind of get into panick mode, but that's just because I know that if we would not have coverage for the nursing visits and factor, it will cost a lot of money.
 
 

Daycare
When I was about 7 months pregnant we signed up for a Montessori daycare and did not tell them Julian would have hemophilia. So I was kind of dreading to tell them for fear they would turn us away. They called last week and I explained it to them, but the director said it would not be a problem. She just wants all the information I can give her which I will do ofcourse. The HTC also gives presentations to daycares and schools so I want to get that done as well in September.
August 10: We have a presentation scheduled for August 18. Marco will be attending with Julian as well. Too bad I cannot be there, but I'm sure it goes fine.
September 5: After being cancelled twice, the presentation finally happens with me there, not Marco. It turns out the teachers were nervous, but I think the nurse gave them enough information to make them feel comfortable. It's me that is still unsure about this whole daycare thing. The daycare seems really interested and want to learn about it, so that is a good thing. The test will come next week when he's there for 3 days.
November 11 Julian has been at daycare now for almost 3 months. The teachers love him and he has been doing good. They do keep an extra eye on him, especially now he starts crawling and pulling himself up. We gave daycare a list of phonenumbers and also put on that list that they always have to contact us. That seems to work well.
Jan 11, 2004: the teachers have requested that we get a helmet for Julian. I am not too happy with that. I don't mind having a helmet and using it sometimes, but I am very afraid that they will just use it all the time as an excuse to not keep a close eye on him. I have ordered one (as well as knee pads), but believe me, I will go by daycare during the day now and then to find out if they are putting the helmet on all the time, because that is definetely not what I want. True; he sometimes "headbangs" but usually not on the floor. And anyway, he will have to learn that some things are just not good for him. This makes me more and more convinced that I will not keep on working, but stop when he turns one and Marco has to go back fulltime as well. It's a shame this country doesn;t care at all about trying to keep parenting a job for both parents.
Feb 22, 2004
We gave daycare the helmet and he wears it without complaining. I'm still not sure how often and how long they make him wear it, I guess I will have to talk to them about that soon. They know we don't like for him to have it on constantly, but outside it's almost a must since there is concrete....
July 2004
Julian moved on to the next group of 12 to 18 months. I think they were kind of scared first since I had to ask for him to be moved. Ofcourse the infant room is "safer", it is padded, but he needs to play with kids his own age and he needs to explore and run around, hemophilia or not. He likes it and is as active as the rest (with a helmet on :)
June 2005
Julian has been in the toddler room since the end of 2004 and he loves it. His new teacher is very good about calling us, giving him ice and we bought some rapid ice packs at the dollar store that work wonders !

September 2006

Julian is now in the Montessori class and everything is going well. He does come home with weird bruises sometimes, but if it's something they notice; out comes the ice and the Arnica. He plays with the other kids during playtime and lately he has not been wearing his helmet; which is fine with us, he will have to learn to do it without. The nurse came in and did a presentation for the class and all his friends and especially the older kids are now more aware that they have to be a little more careful around him and do so too.
 

Hemophilia links
National Hemophilia foundation
World Federation of Hemophilia
Hemophilia Federation of America
Hemophilia village (sponsored by Wyeth)
Hemophilia Galaxy (sponsored by Baxter)
Infusion Specialties (home care company)
Patient Services Incorporated: (for free items like helmets, kneepads etc.)