I came across, while googling, a thread where someone asked about INR and Thrombin time, or protime. There were so great answers so I figured, why the heck not, I will just throw out my children's disorder and see if anyone has some helpful or thoughtful input.
All three of my children have a rare clotting disorder called hypodysfibrinogenemia. All three have elevated protime. They all range around 16 seconds and their INR is around 1.6 (for the twins) and my daughter's runs about 1.4. Their fibrinogen level is all
Now my daughter's cousin, a 16 year old boy, on her father's side was diagnosed a couple weeks ago after a football injury that would not heal. After that I decided to have my identical twins tested and they both have low levels of fibrinogen, increased protime and decreased INR. I do know my daughter also has increased reptilase time. None of my children have spontaneous bleeding, none had umbilical bleeding and of course, my daughter is too young to have her period so I have no clue what that holds.
I guess one of my questions is, if you were to see labwork with increased clotting time but decreased INR, what would be your first thoughts? What are the risks associated with this and why would someone have increased clotting time but low INR? Isn't that sort of oddly inconsistent? Wouldn't you expect to see someone with high INR who doesn't clot? Or is the low INR the body's way of staying homeostatic based on the high clotting time?
**** I want to clarify, that based on the labwork for all 3 kids-and my daughter had 3 or 4 rounds of it-the thrombin time differs in each one-my understanding is that is because different controls are used. But without question my kids all exhibit thrombin time that is elevated by about 6 seconds from the norm.
Thanks you guys. I did contact the HF years ago when my daughter was diagnosed and they help with getting tags and such and camp information. But the camp is outrageously expensive, I don't know how any parent can afford it.
I wasn't aware you guys couldn't offer medical advice. Can you at least say, if this was your child, would you go so far as to try to get genetic testing to map the specific gene and try to glean as much info as possible, or just take this rare disorder as it comes?
Specializes in Vents, Telemetry, Home Care, Home infusion.
Hypofibrinogenemia and dysfibrinogenemia are inherited disorders that can be either dominant or recessive.
Dominant means that a single parent can transmit the disorder if he or she is a carrier.
Recessive means that both parents must be carriers of the disorder in order to transmit it.
It is recomended to have genetic testing to identify carrier status and help guide treatment.
Comprehensive Medical Care - Hemophilia Treatment Centers were developed after advocates rallied in 1970's. There are ~140+ centers across the US that provide testing, education and clinical managment. I highly recomend that you contact center in your area to best help your family and ask questions of the professionals who deal with these disorders on a daily basis.
The concept of comprehensive care is to treat the whole person and the family, through continuous supervision of all the medical and psychosocial aspects of bleeding disorders. Comprehensive care is total care because every facet of the person is addressed, including their physical, emotional, psychological, educational, financial and vocational factors. The development of comprehensive care over the past 30 years, has greatly improved the quality of life for people with bleeding disorders, helping them to be more independent and productive. The treatment center care network has also lowered patients morbidity and provided cost-effective care in the long term.
The Canadian Hemophilia Society website has easier to understand info:
Wow! Thanks. I have spoken with NHF before and they never mentioned treatment centers. Maybe this is something that helps with people who have limited insurance coverage? We have Blue Care Network but have a 1500 deductible for specialist care and honestly I am freaking out about the cost of taking both my twins in to see a hemo. I am going to call them first thing in the morning. I will keep you all updated, too!
IMPO, if your child has not been diagnosed with the bleeding condition yet, I would first of all make sure the child has the best insurance possible for yours to come on into their adulthood at least at a "reasonable" premium amount today. Secondly, I would also research the treatments out there for her condition to see whether or not it is worth getting dx. and thus labeled as a pre-existing condition in reference to health insurance for the treatments. Sometimes the treatment(s) are worse than living with the condition and having him/her learn to listen to his/her's own body. In addition, having a pre-existing condition this like can make relocating overseas difficult, if ever desired to reside overseas for the socialized medicine.
Lastly, I personally would give your child the option to help decide whether or not to go for the genetic testing -- unless it plays a vital role in the dx. and thus determining the best treatment options. Not everyone wants to know and worry whether or not they are a carrier of any serious medical condition -- until say one is ready to get pregnant. Plus, there is no telling what the future will bring.
Just my two cents.
P.S. As far as getting cost of camp paid, there are assistance out there -- you just gotta look for it. Try the Pediatric Cancer and Hemaphilia Organizations for starters -- plus the camps themselves.
My 10 year old daughter has a diagnosis of hypodysfibrinogenemia, confirmed by two separate hematologists. My twins have had preliminary blood work that indicates they have the same condition. I have reasonably good insurance. There is no treatment necessary for this disorder beyond keeping Amicar on hand if the kids bleed without cessation. I do believe there are treatments available for when my daughter has a baby someday. Other than that, we have not needed any consistent treatment. It is my understanding that disorder like this would preclude my kids from ever serving in the military. As far as socialized medicine goes, I am strongly against it and would never seek it out for my kids. I don't want their care rationed. I would rather pay out of pocket than be told who we can see, when and what kind of care they can get. The genetic testing would be to identify where the problem on the chromosone and it is my understanding that this information can give an indication if the patient is a bleeder, prone to thrombosis or possibly neither and is asymptomatic.
ConcernedMama
8 Posts
Thanks you guys. I did contact the HF years ago when my daughter was diagnosed and they help with getting tags and such and camp information. But the camp is outrageously expensive, I don't know how any parent can afford it.
I wasn't aware you guys couldn't offer medical advice. Can you at least say, if this was your child, would you go so far as to try to get genetic testing to map the specific gene and try to glean as much info as possible, or just take this rare disorder as it comes?