By Diana on Monday, June 05, 2000 - 03:30 pm:

We went to our pediatrician today to find out why my son has been having so much problem with his knees popping, having pain and either locking up on him or not
being able to stretch them out. He was diagnosed with double-joints or hypermobilty at about 4 or 5 yrs old. He is now almost nine and only recently began having
problems with his knees which started in one knee and now effects both. He has many of the phyical characteristics of Marfan and some of EDS. He has complained
of chest pains and a doctor told us several years ago he had asthma and allergies that caused blueness around his mouth and under his eyes and the chest pains
although he has never had any heart work up done. The pediatrician seemed sceptical about the diagnoses of asthma but said since he is hyperactive he probably
wouldn't sit still for an EEG. I think she was waiting for the results of the blood test she is ordering for him to tell if he has Marfan Syndrome. She has also referred
him to an orthopedic surgeon after taking X-Rays of his legs and hips which came out normal. After talking to her about some of the possible family history of
tallness running on the fathers side of the family, heart problems also running on both sides of the family she also agreed it was very possible that he probably had it.
Unfortunately I know very little about his fathers side or mine for that matter since I was adopted. I wrote to the Marfan association and the said from my discription
he should be evaluated because he had many of the characteristics, however they also said there is no blood test to test for it. So does anyone know of the test my
doctor might be planning to give hime? Also, does any one know of any doctors in the South Dakota area possibly in Sioux Falls or in the south east part of South
Dakota on near by that specializes in these areas? I would really appreciate information on either the Marfan or EDS Syndromes and how they effect children or any
other information including possibly a corrolation between developemental delays and these syndromes. My son has delays in reading, spelling, and math. He also
has short term auditory processing disorder. Also, if anyone took seizure medications while they were pregnant that could have a bearing on these syndromes and
their children that were born.
Thank you
Diana

By Sue C. on Monday, June 05, 2000 - 03:30 pm:

You may want to search this forum. I remember someone else with a similar developmental delay question. You also should search on South Dakota.

Good luck! And don't be afraid to travel to find a doctor who knows about EDS and how to work with your son.

By Bianca on Monday, June 05, 2000 - 03:31 pm:

Marfan Syndrome is a recessive genetic disorder, which means that you need two Marfan genes for having it. So it is probable that no one of your family has some
symptoms, but you have one Marfan gene and your husband has one. I am not sure, but as far as I know the Marfan gen is known. When it is really known it is
possible to make a genetic test, where you can see, whether he has it or not.
For EDS, for the more seldom types as far as I know the genes are known, so you can test it, but for EDS, hypermobility Type it is unknown like for HMS.

By Iggie on Monday, June 11, 2001 - 12:30 am:

Prof. Graham is doing a study on genetics of BJHS, which he believes is the same as EDSlll. My brother, who I observe to have many signs of the illness, has refused to take part. I feel that he does not acknowledge the difficulties I have living with EDS, and other health problems also genetic for which he would not be tested because he believed he did not have either...talk about denial! Anyway, last night he told me his wife is pregnant, and all I can think about is praying that child does not inherit my illnesses.

Sorry about misery of post, but hard to explain how awful some days are, and how much I would not wish this on anyone.

By Tanya on Monday, June 11, 2001 - 03:28 pm:

Iggie or anybody,

If you don't mind, could you describe how bad
you feel sometimes. I suspect that I have
EDS. There are days when I feel that I just
can't make it work. I force myself however by
the end of the day I feel totally ill and can
barely walk to my car or drive home. Then I
have to come home to 3 young energetic boys.
Does anyone feel like their body is tingling or
burning all over sometimes?

By Beth on Tuesday, June 12, 2001 - 10:06 am:

Iggy,

Could you tell me the difference between BJHS and HMS?

Hugs
Beth

By Amy on Wednesday, June 13, 2001 - 10:43 pm:

Tanya,
Have you been checked for Multiple Sclerosis.. They experience those same symptoms.
Worth checking into if you have not yet.

By Iggie on Thursday, June 14, 2001 - 01:56 am:

Beth,

I don't thinhk there is any difference. In the UK, some rheumatologists now call HMS BJHS (benign joint hypermobility syndrome). Personally,
I prefer HMS as I think there is far more than joints involved, and, although not life threatening, it certainly is not benign!!

Hope this helps,

Iggie

By Tanya on Thursday, June 14, 2001 - 05:51 pm:

Amy,

My internist refered me to a neurologist back
in Nov. because the neuro exams that she did
indicated possible MS. Up until the MRI
results, my neurologist also thought that I had
MS. The only thing thats helped me get some
relief is large dosage of prednisone (80 mg is
as much as I can handle- swallowing 8 of
those tablets is horrible)

By Beth on Thursday, June 14, 2001 - 08:18 pm:

Iggie,

Thanks, i must be behind the times since I live in the backward US. i can't even get disability.

Hugs
Beth

By Az on Monday, December 30, 2002 - 02:59 am:

Hi Diana there are blood tests for Marfans and some Eds, but these are not always conclusive and other tests are needed for certain diagnosis. At your sons age there may not be any signs of aeotic problems as these usually do not manifester in Marfanoids till the 20 to 30th year of life. A good test used to diagnose Marfans is an eye test as the optic nerves are usually always affected which can cause what appears to be a dislocated lens although this is not the case it is excess springyness of the nerves (This can be a small problem in HMS and EDS although not as often or as severe) My friend who has Marfans has also got learning problems although Im not sure how much that is because of the syndrome it is more likely to do with having schooling disrupted by hospital visits and also eye sight problems. Strangely though his mum was epileptic, but doubt the tablets where the cause as his male family also had marfans and their mums did not have epilepsy, so possibly a coincidence
Az