My eight year old granddaughter is seeing a specialist because her regular
doctor thinks she may have Marfan Syndrome. He had mentioned the
possibility of it several times when she was younger but did not feel the
need at that time to pursue it yet. Well, she has recently been having some
back pains and they discovered she has scoliosis which it seems is quite
common in children with Marfans. He referred her to a pediatric orthopedic
doctor who said she does have all the outward signs of Marfans so she now
has to undergo a battery of various tests. Basically Marfans is a
connective tissue disease that affects many body systems, including the
skeleton, eyes, heart and *** vessels, nervous system, skin and lungs.
She is very tall for her age with long arms, legs and fingers and this seems
to be a common characteristic. Of course many children this age are long
and lanky but she is more so than average. She can also wrap herself up
like some kind of a contortionist yet she cannot stand up and touch her
toes. Apparently there are many things like this that go with Marfans.
She had an echocardiogram last week and that looked OK except for a heart
murmur so that is one test down. She will also have to have genetic
testing, eye tests and several other tests based on the results of these.
Tomorrow is a big one for her - a Spect Scan which is a type of nucleur
testing and will last all day. She will be injected with a radioactive
substance and later all her bones will be scanned. I am taking off work to
go with her Mom and her for this test as they are both understandably
nervous about it and my son (her dad) is out of town on business.
I am just hoping that I can be helpful and supportive for them both. I know
it is very *** my daughter-in-law as well as my DGD. I remember well
the feeling of having your child go through serious medical tests. Right
now my DGD is worried about the needle part of it as she will have an IV. I
am just hoping and praying that none of it is too difficult for her and that
all results are negative.
At any rate I'm rambling on about all this because I wondered if anyone here
has any experience with Marfans Syndrome or knows anyone that has it? I
have never heard of anyone with this disorder before. It seems to be a
fairly rare disorder. We could also use some prayers tomorrow if anyone has
any to spare.
Thank you all so much,
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