What Causes Continuous Sleeping In Condition Like Vonwillenbrand Problem?

Posted on Mon, 23 Mar 2015

Question: my daughter is really sick. she is 16 - bruising, sleeping a lot , had this problem before several times , had long PT - went tolocal hematologist last year - was released -he say takes time to catch a vonwillenbrand problem sometimes- -problem back but worse now -- took for second opinion at RUSH rheum/heme - has pretty severe raynauds and factor 5 deficiency and high antithyroid antibodies and normal tsh? they start her on nifedipine xr daily and tranaxemic acid as thrombin time 29 sec and factor 5 def. 30% of normal and thyroid antibodies high

went to peds heme rush got labs there then he send us to hemophila specialist -Dr Boggio at RUSH-- she say must redo all labs as factor 5 is one in a million they must be very sure she has no one else with this problem--, should know Monday.

my little sister (35 y .o. ) r had baby now has severe anemia 4 day hospital stay post delivery and POTS and severe asthma- baby delivered at XXXXXXX Pres Manhattan- she is still very sick baby now 2weeks old .. cant feed herself too weak or care for her baby so family helping.

RUSH thinks we have a familial syndrome ? my child has syndrome?

you have been extremely helpful answering my questions.

I don't go to see any docs now - as I am caring for my daughter , trying to work etc.

keeping life simple . just keeps getting a bit more complicated though.

I think we are all connected? I think same problem , genetic link somehow but no one has been able to link these weird things

Answered by Dr. Diptanshu Das (2 hours later)

Brief Answer:
There seems to be a genetic link between these. Needs further exploration.

Detailed Answer:
Thanks for asking on HealthcareMagic.

I have gone through your daughter's case in details. Let us accept the fact that there is something wrong with her and that the underlying basis might be genetic. Genetic disorders can arise sporadically i.e. all of a sudden, at random. Or they can arise when a certain combination of genes from the father and mother. When another family member seems to be affected, the suspicion towards a familial condition becomes strong even though others of the family might never have presented any symptoms. Things get tougher, both for the doctors as well as the parents, if the suspected condition is rare, and it definitely calls for a double checking. You might be in a dismal situation but you are proceeding on correct lines and please do not discontinue the follow up with your doctor. He will be better able to bring out the possible connections, if any.

Regards
Dr. Diptanshu Das

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Diptanshu Das (10 hours later)

my guess having lived with mast cell problem--

I think we both have ehlers danlos-type 3 - vascular/hypermobility mix- I have hypermobility , my thumbs dislocate a lot - daughters hips do - they go back in ok though.
goes pretty frequently with mast cell disease.

factor 5 is odd. I think that's why RUSH repeat all labs, but they just did them- same place.

thank you.
XXXXXXX

Answered by Dr. Diptanshu Das (3 hours later)

Brief Answer:
Please be patient and wait for the doctors to find out the problem.

Detailed Answer:
Thanks for writing back.

Rather than using the label of Ehler Danlos Syndrome, I would rather prefer saying that there is a possibility of some collagen vascular disease. The label can finally be attached once a final diagnosis has been made. There indeed seems something wrong with your child. Let the doctors find out what exactly is the issue. I understand that repeating the tests from the same place might seem odd, but it could be due to the reliance on the lab that they would do the tests properly and so, quality results are likely to be obtained.

Hope that helped.

If you found my answer to be helpful, please close the thread with a positive review and a 5 star rating.

Regards
Dr. Diptanshu Das

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Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar