Please give me your thoughts

[evo123]

I have 3 daughters, age 1, 3 and 7.  They have recently been assessed by a genetics team and they have confirmed that all 3 have hypermobile joints, blue sclera and soft 'velvety' skin.  I have recieved a letter from them stating this but no indication as to whether a dx will be made or further appointments will be given.  They have other symptoms to.  They bruise easily and take a long time to heal.  My youngest has spina bifida occulta and had surgery when she was a few months old for Tethered Spinal Cord, my middle daughter had a couple of teeth removed as she fell and they loosened - during removal she had quite a heavy bleed, and my eldest has a duplex kidney system with uretrocele and reflux.  Sounds a lot but they are actually well and doing great.

My question is do I leave it like this for now or do I pursue for a dx to be confirmed or unconfirmed?

There is no known history of this in either mine or their dads family and niether him or me have any obvious symptoms.  I have POTS, have heamorraged from surgery and have mild mitral and triscupid (sp) regurgitation, when in labour my womb teared and my baby was stuck so I had an emergency c-section.  Neither of us are hypermobile.

I have no immediate worries for my girls but do have worries for them longterm if this could be an issue for them or a factor in their decision to have children.

[auntissie]

There are allot of people with EDS and POTS, I'm one of those.  I'm 50 years old and just found out these things about a year and a half ago.  
To me, it definitly sounds like you have EDS with the ruptures and all.  If you have the vascular type, you need to stay moiintered, because if one of the main ateries ruptures, that will be very bad.  You also have to keep a watch on your eyes.  There is the possiblity of retina detachments, not to mention that you usually get really near sighted.  My eyes got really bad at puberty.  They put me into hard contacts to hold the curvature of my eyes at age 12.  I was having to change my glasses every few months.
I had to wear high top shoes as a child because my ankles were so weak.  Some people have to get braces and splints for their ankles, wrist, legs etc.  You tend to get arthritis at a young age and have allot of pain from trying to keep yourself upright and held together.  There's not much that can be done for it.  Pain pills and muscle relxrs.  These you have to be careful with if you have POTS because it really can make your POTS symptoms worse.
Hope this is of some help.

[evo123]

Hiya x and thankyou for your reply x

I am still at the same stage as my post above at the moment so no more to tell yet x

It is nice to hear that your daughter is coming on and has benefited from therapy.  The good thing is she has had thsi help from an early age therefore preventingher from struggling within her schooling.

My eldest daughter met all her milestones, i.e crawling, walking etc and was very bright academically.  But it took until she was 6 years old to get help with her gross and fine motor skills.  She was very clumsy, and had minor difficulties using cutlery, throwing balls, within her Physical education classes etc.  Her ankles were weak so I put her into a ballet school and the teacher was excellent and helped her build up strength in them and also helped her with her co-ordination.  Her school would comment to me on several issues, but never actually done more than that, I paid for her education and just thought her teachers were being 'picky', until they mentioned to me they thought she had dyspraxia.  This was when she had an occupational Therapy assessement and was found to have Joint Hypermobility Syndrome.  She has just completed her physio sessions and has been discharged now as she is doing so well.  Although, she would have benefited more if they had of picked up officially on her needs at a younger age.  My middle child seems to compensate really well for her 'bendy' joints and has not shown any difficulties yet.  But my youngest ( 2 soon) has really really lax joints and we thought this would effect her walking but it never.  But her feet do not sit well in shoes, she can only wear hard soled slippers as other types will not stay on her feet/ankles if you get me!!!  My two youngest have occasionly complained of pain in there wrists and legs but whether this was any connection I am unsure.

How are you with your EDS?  xx  

[EDSmom2]

I am new to this as well. Our gentics dr dx my 2yr old. She has type 3 hypermobility & I have it as well. She is in pt & ot twice a wk b/c her gross motor was severly delayed. She is almost age apporpriate now but still continuing with therapy b/c its the only thing that can be done for it. I would call and schedule for the skin biopsy & if that is negative do the dna testing for the types they can. Good Luck! There will be lots of questions that come up & if you find a dr who can answer them all let the rest of us know!!!

[selmaS]

Thanks for the link I will deff take a look....I am aware that many with Chiari can have what they call the trifecta....chiari, EDS and tethered cord.

Some also have POTS....and many of us have even more going on...but I was not dx'd with POTS or ne of the other autonomic conditions.....

Thanks again for the info and I look forward to ur updates : )
"selma"

[evo123]

Many POTS patients have EDS and for them this is the cause.  Below is a link giving some info on this, but if you research it you will find a lot more.  I know many people now with both conditions.  

The doctor I am now under is called Prof. Mathias and he is a world known autonomic  specialist.  He takes referrals for patients from the UK, europe and sometimes worldwide, so I am in good hands x I will defo keep you updated as I go x

http://www.dinet.org/what_causes_pots.htm

[selmaS]

Thanks for the update...that is the first I heard that EDS can cause the POTS?.....I am very interested in hearing updates on what all u learn from this dr.

Good Luck
"selma"

[evo123]

Hiya selma,

just thought I would give you a little update.  I have recently had an appointment with a Professor here in the UK for my POTS.  He believes that I have EDS also, he had me doing some movements and said he thinks this may be the cause of my POTS.  He is going to admit me in a couple of months so I will update you as I can.

[selmaS]

Hi...I am new to my dx so I do not know all that much,,but I can tell u I was DX'd at my NS's office when I went for a consultation for Chiari and tethered cord....they did so by a questioner and some of the testing pictured on the link I sent u.I never would have thought I could move my joints like that...I did know my skin bruises easy and I was slow to heal...just never knew it was a condition.

I have yet to get to the rheumatoid dr for further testing, so, I can not say how that will be done.

As for treatment I guess that all depends on symptoms at the stage they r at...many have joint pain so it may be some type of mobility PT and to learn ways to keep stress off the joints and if need be a pain med .....as I said I am new to this as well and have not gotten that far as I am recovering from surgery from the chiari  

I hope u find the next step and please keep me posted on how u and ur girls r doing : )

"selma"

[evo123]

Hi, and many thanks for your post.  How would this be diagnosed?  My daughters genetics team did say they would like to do a skin biopsy but I have heard no more regarding this, maybe I will contact them and ask for this to be done.  I don't really have any of the above mentioned features - I am tall with medium build, although I do have thin lips.  

I was thinking of asking my dr (I am in the UK) to refer me to a Rheumatoid dr based on the blood results and it makes me wonder why the hospital consultants haven't.  I have had a bit of a nightmare trying to get a dx and help.  I was in hospital for 7 weeks really ill, they found an adrenal growth, found I had coeliacs disease and I tested positive for POTS, as well as having several deficiencys.  Although I tested positive by TTT for POTS and all my symptoms are there each doctor gave me their opinion and although being treated for this was told by each one different......,.doctors can be so dissmissive when they are uninformed about a condition.

My endocrinologist (whom I must say is not a very nice man!!) dismissed any idea of EDS on the basis he walked into my consultation (with his registrar) tugged at the skin on my neck and said nope you do not have eds and walked back out again!!!  

Is the cardiolipin count raised in people with EDS?

There has been no mention to me of chiari or a syrinx being an issue for my daughter.  She had a MRI of her spine that diagnosed the tethered cord and SPO (suspected through a sacral dimple) and I am assuming this would of showed those also (I may be wrong).  She is due for a follow up MRI in april.  

Is there treatment for this form of EDS?  What for do you have and how did you get a dx?

Many thanks for all your information.

[selmaS]

It sounds like u may have EDS, but a different type......

Vascular (Formerly EDS Type IV)
This type is generally regarded as the most serious form of EDS due to the possibility of arterial or organ rupture. The skin is usually thin and translucent with veins being seen through the skin. This is most apparent over the chest and abdomen. There are certain facial characteristics present in some affected individuals. These manifestations include large eyes, thin nose, lobeless ears, short stature and thin scalp hair. Also evident is a decrease in subcutaneous tissue, particularly in the face and extremities. Minor trauma can lead to extensive bruising.

Arterial/intestinal/uterine fragility or rupture commonly arise in this type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier. Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Acute diffuse or localized abdominal or flank pain is a common presentation of arterial or intestinal rupture. Life expectancy is shortened with a majority of individuals living only into their forties. Pregnancies maybe complicated by intra-partum uterine rupture and pre- and postpartum arterial bleeding.



U may want to find a rheumatoid dr that specializes in EDS for pediatrics.....

Get a follow up especialy since u have other issues that r related...and u said ur youngest has spina bifida occulta and tethered cord...do u know if chiari or a syrinx may also be an issue?....

U or ur DH may be carriers or may not know u have it...I would have bet the farm I did not have EDS , but I do....so make sure u and DH r tested to see exactly what is going on and that way u do not have ne surprises.

"selma"

[evo123]

I am unsure whether this is relevent but I had tests done as an in patient and one for cardiolipins came back as high positive.  I was told this was indicative of antiphospholipid syndrome but they did not think I have it as I have never had a clot or miscarried.  But when I recieved the lab result, underneath it recommended further tests as this can be indicative of connective tissue disorders!!!  No follow up has been done on this.