Depending on the specific rare disease your family faces, having the right kind of emergency care can mean the difference in life or death.  In my family we’re dealing with a connective tissue disorder called Vascular Ehlers-Danlos Syndrome (VEDS) and because patients can look and act perfectly normal — and might even have “normal” vital signs,  EMT’s can easily mistake serious symptoms for benign problems.

Even in children, abdominal pain or jaw pain can be the only signal to a serious arterial complication such as an aneurysm or dissection.  Cramping and constipation might mean that their intestine has ruptured.   Often times, if it’s a “slow bleed”, their vital signs will be normal enough – and because situations like these are “unheard of in children”, the REAL diagnosis is missed, treatment is delayed, and lives are lost.  The night before I lost my husband his BP and heart rate were “normal” when the paramedics arrived; they even had him walk down a flight of stairs to get on the gurney himself (despite the pleas of his frantically screaming wife).   Within an hour of getting to the hospital, the CT had shown that his abdominal aorta had ruptured and was bleeding into surrounding tissue.  Unfortunately, there was nothing anyone could have done to save my husband; his tissue was too fragile and the outcome was unavoidable.    However, for many patients with VEDS and similar disorders, time is critical – and proper management CAN save their lives.

One of my greatest fears in raising my son, is that if or when an emergency arises for HIM, we’ll be faced with paramedics who are trying to safe his life, but again have no idea what they’re dealing with.

Even with a medical alert bracelet, I’m well aware that most emergency personnel have probably never heard of his disease – much less know what to do for my son in a crisis.

To be honest, that fear has haunted me for all of the 13 years since losing my husband.  There are too many stories of families who’ve gone through very similar situations, and in their cases their loved ones could have been saved.  I’ve struggled with the reality that (through no fault of their own) I know more about my son’s disease than the emergency personnel do.

Then, a couple of months ago, I stumbled onto some information that somewhat eased  those fears for me.  I was talking with a fireman who’d come to the school where I work to do safety presentations with the students.  During our conversation, I found out that I can call our local 911 director and list all of my son’s medical information including the “Do’s” and “Don’ts” for emergency care.

With this information on record, if a call ever comes into 911 from any of the phone numbers I give them – or if a call comes in with my son’s name in it – no matter which agency responds, they’ll have the same info.  I can list what hospitals to take him to and which doctors to contact for instructions.  All of which is a HUGE relief because I know (from experience) that the whole “frantic-screaming-panicky mom” thing doesn’t work all that well.

VEDS isn’t the only disorder, syndrome, or disease that requires specific emergency care.   Many other connective tissue disorders such as Marfan Syndrome, Loeys-Dietz Syndrome, and Turner Syndrome also produce deadly but invisible vascular complications.  I’m also very sure there are countless other rare diseases that first responders won’t know much about but for which those first few moments of care can be so critical – which is why I decided to write about it.

The contact information may be a little different in each area or county, but if you start by calling your local fire department, police or sheriff’s department, they can probably put you on the right track.  There may even be an actual listing in the yellow pages (do people still use yellow pages?).

If you’re anything like me, trying to anticipate the endless scenarios your child could encounter takes up a lot of your time whether you mean for it to or not.  And yes, I know there’s no real way to be prepared for every possible emergency or crisis, but it doesn’t mean I’ll stop trying. 🙂  Hopefully, knowing that services like these are available will help ease some of that worry just a little bit.

BTW — I would really like to hear from any readers who have other great ideas or suggestions for emergency plans/preparations – regardless of the specific disease!

For more information about Ehlers-Danlos Syndrome, please visit:

Ehlers-Danlos Network C.A.R.E.S.  at   www.ehlersdanlosnetwork.org

For information on genetic diseases that cause aortic aneurysm/dissection in adults & children:

TAD Coalition (Thoracic Aortic Disease)  –  www.tadcoalition.org

The John Ritter Foundation for Aortic Health www.johnritterfoundation.org

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1 thought on “Emergencies: Are You Prepared?”

  1. Melanie Hannan says:

    Hi Debbie
    I have come across a couple of your entries tonight in regards to your husband and son. You have interested me greatly. I have a 13 year old daughter who doesn’t actually fit into a box as the geneticists like to say but they are tentatively saying she has ehlers danlos syndrome with grey matter heterotopia. She had a vascular ring repair as a baby, many loose and painful joints and most importantly an aortic root aneurysm.
    We have never been able to actually find anyone that has any clue what we live with every day or be able to offer any constructive advice or support.
    Don’t get me wrong – we don’t want sympathy – we just don’t want to feel alone anymore.
    I saw your entry in regards to the online support you have access to, entered on June 26, 2010 I think? Can you point us in the right direction??
    I am so sorry to trouble you. I really hope all is well with you and your boy.
    Regards
    Melanie Hannan

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