EB Awareness Week: Because of EB.....

Because of EB, I have a wonderful, thoughtful, pretty stubborn but independent, 10 yr old daughter

Because of EB, I have my own personal guardian angel

Because of EB, I have a loving, smart and giving 6 year old daughter

Because of EB, I have a happy, energetic, eager-to-learn almost 5 yr old daughter

And because of EB, I have a very hyper, always busy, happy, and not so little 19 month old son

Today is the final day of EB Awareness Week!  If you have read each of my post, thank you!  I hope you have learned something you didn't already know; I hope you still spread the word about EB!  Awareness is the key!

EB Awarenss Week: The sad part of my "job"

This post may be controversial to some people and it will revel my true feelings about certain things and that may cause some people to change they way they think about me.  I don't normally take that kind of risk or expose myself in this way, but I think sometimes people (even myself) realize I am human too and have my own thoughts an feelings on things even if I don't express them often.

While I TRULY enjoy my job, my responsibility, to help other EB Families, there are many days when that "job" is frustrating, sad and heartbreaking.

I wish I could save every EB baby that I come to know; I wish the term 'EB Angel' was a thing of the past.  I know I can't save everyone; but I often feel like I failed when one dies.  Don't worry, I know I truly didn't fail that family; that child.  But that is one of the frustrating parts; did I give the family enough info to make the best decisions they can?  The other frustrating part, NOT giving my opinion on certain aspects of EB care.  I use to be a 'my way is the only way' person but I have changed a lot in the past 10-15 yrs.  When I am speaking to an new EB Family I WANT to TELL then what to do.  But I have to keep reminding myself that I am just the provider of information; NOT the decision maker and its up to the parent to make the decisions on issues such as g-tubes, trachs, medications, etc...  and some days that is very frustrating for me.  But I haven't alienated too many people so I must be doing a good job of keeping my opinion out of it! 

Visual diagnoses by doctors is something else that also frustrates me.  To hear that a baby is born with super long fingernail and just a few blisters/patches of missing skin here and there and the doctors are quick to say, 'oh they are so mild, its simplex.'  So the parents go home relieved and happy only to have their hearts broken weeks later when the biopsy comes back as junctional-hertliz.

Or for the family who's child is more with massive skin loss and the doctors assume the child has junctional only to be completely shocked when the biopsy comes back as simplex.  

In my observation those who start out mild tend to have a severe/progressive form of EB and those that start out severe tend to have a milder form of EB that improves with age.  Granted it doesn't happen that way all of the time, but it seems to happen that way most of the time. 

And that is also something else I struggle with; not giving families my opinion on what type of EB I think their child has (unless they ask of course!) 

The sad and heartbreaking parts:

Of course learning of a new EB Angel is always heartbreaking, but for me knowing what the parents are thinking, feeling, and how they are suffering.   That is more heartbreaking for me.  I know what its like to lose a child; I know that the day after feels like; planning and attending the funeral of your OWN child; knowing what the first holiday, birthday and angel day will feel like without them.  I want to tell them it will get better; but that would be a lie.  It doesn't get better; it just gets easier to live with.  And I have over 100 friends/acquaintances that know exactly that; and the list continues to grow every year:/

I am so glad those 100+ people are in my life, but I wish it was because of a different reason.  And I know they feel the same way:)
 

Even though some days are sad, I will continue in my quest: to use my knowledge and experience of EB to make the journey of a new EB family a little easier to travel. 

EB Awarenss Week: The happy part of my "job"

I know there are people who consider me an EB advocate and I never really thought of myself as one until recently.  I don't go out in public to raise money or awareness for EB; I am more of a behind the scenes kinda person:)  I have my blogs; I run/co-run EB support groups on-line; I reach out to other EB families, especially those with new babies.  And I guess all that makes me an EB advocate in my own little way:)  

It wasn't until I got to college and was learned how to use the internet that I found  and "met" others with EB.  Then when I was twenty-one, I finally met someone else with EB in real life!  Since then I have meet dozens of others with EB in person and hundred of others on-line.  Because of EB, 520 of my 782 Facebook friends either have EB or have a family member or friend with EB!  

Because of EB (and the internet) I have made some wonderful life long friends! And most I have never met in real life!

  It was until after Garrett that I really became involved in the EB community.  It was after having Sami and then Garrett, I realized how little information there is out there about the day to day care of an EB baby.  The things like clothes, diapers, bottles, etc..  And if I (some who HAD EB) was having this much trouble, how were parents who didn't know about EB handling things??  My goal seemed simple at the time: to make the journey of another EB family a little easier to go thru my using my experience and knowledge; to give them the info and tools sooner rather than later in the process  (SO many families often find out way later on about the small things- reflux, certain bandages, ointments, etc..and had they known about those things from the beginning it would have made things easier) 

While my mission hadn't changed, it had gotten harder!  So many new families each year; so many types of EB, and each case is different- no one size fits all when it comes to EB!  Even though I am sure I do more than anyone expects, there are days I feel like I fail.  It's hard to balance my own responsibilities (home, kids, work, etc...) with my strong desire to help other EB families.  I wish I could do it full time (i'd even do it for free!)  but like everyone else, I have my own kids and a job and a husband and a house and cats to care for and there are only so many hours in the day!  People joke I should have my own "office hours" and while I did think about it for a short time, I realized EB doesn't have "office hours"!  Families often have questions on night and weekends and I do not mind getting an email or text in the evening or on the weekend.  99% of the time if someone had a question or needs advice.  After all, they need (are hoping for) an answer sooner rather than later.  

My goal remains the same each day: to help, listen, advice, and suggest when I can and hope I make a small difference in the lives of others....

Stay tuned for part two....it will be posted later today:)

 

 

EB Awareness Week: "how do I know so much about EB?'

"how do I know so much about EB?'  That is one questions I get asked a lot.  People assume I know a lot about the form of EB that we deal with but they are always surprised to find out  how much I know about many of the other forms as well.

Just where do I get all my info?  Well, many places actually:-)


In addition to having EB myself and caring for children with EB, I read a lot of journal articles about EB, look for info on line, but most importantly, I listen.  Or in the case of the internet and email, I read.  I read questions people post about EB and the answers they receive.  I read the stories of others with EB that they are willing to share with the EB community; the good and the bad.  I take A LOT of notes.  I notice and remember (and record) the things about EB that the majority of doctors and EB medical professionals don't focus on or write articles on.  Things like bleeding and raw finger nails, bad wounds on the ears and the back of the head are typical signs of the severe form of Junctional EB.  Or that honey or golden fluid in blisters is very, very common in simplex.  I know that groups of blisters is an indication of the dowling meara form of simplex or that webbing occurs more often in recessive dystrophic EB than in any other form.  Or that airway issues can happen in all forms of EB. 

I make notes of the ages when those with airway issues get a trach (or need one).  I am trying to learn more about the trachs and the process of getting one so I am better able to give information for the new family I reach out to if they reach that point in their EB journey.

I learned about g-tubes and how they work/how to care for it WAY before Joey got his g-tube just from by talking to other EB families that have a child with a g-tube.

I takes notes about what are the best wound care products or ointments to use on which takes of wounds.  

I signed up for "Google" alerts for the key word "epidermolysis bullosa".  So anytime  something published on-line with 'epidermolysis bullosa" ANYWHERE in the article I will get an email with the link to the article, web page, etc....I get links to medical journal articles; news paper articles, web pages of those with EB, blogs posts (even my own sometimes!) and even obituary notices for those with EB who has passed on.  Many of the links aren't very useful or informative but I always check them out to see if its anything important.  

I read the blogs of those who have/are going thru the Bone Marrow/Stem Cell transplant at the University of Minnesota.  It allows be to learn more about the bone marrow/stem cell transplant process and all the good and bad that comes with it.  

So there my friends is where I get all my information and knowledge from:)  While I do know a lot about EB, I don't know everything about EB; but I do enjoying helping other EB families so I will keep expanding my knowledge to be able to help families even more!

EB Awareness Week: EB Statistics

EB Statistics

*In the US, 1 out of 50, 000 babies are born with EB.  Worldwide that number drops to 1 out of 17,000.

*Approximately 1/3 of those babies will not live to see their first birthday.  

*Depending on which study you read, 1 out of every 227-352 people are carries of an EB gene (I am pretty sure this includes people who have EB)

*Simplex is the most common form of EB

**********************************************************

Here are some specific statistics about EB here in the US (I was not able to locate worldwide statistics)

The incidence column is the one that estimates number born in a given year. The last official birthrate numbers are form 2009, and that year it was 4,130,665 (2010 and 2011 are not available)

Material is based on the NEBR study population

EB type or subtype:                                                                                        Incidence**

EB (All types and subtypes, including unclassified patients)                              19.60

EBS                                                                                                               10.75
EBS, Localized (formerly Weber- Cockayne)                                                  6.81
EBS, all others                                                                                                3.95

JEB                                                                                                                 2.40
JEB-Herlitz                                                                                                      0.41 
JEB, other                                                                                                       2.04

DDEB                                                                                                             2.86

RDEB                                                                                                             2.04
RDEB, severe generalized (formerly Hallopeau- Siemens)                                0.41

RDEB, all others                                                                                              1.63



So in plain English! There are approximately 4 million babies born in the US each yr. So take the #'s in the Incidence column and multiple by 4 to get the total # of each case of EB for that form:

Total # 19.6x4 = 78.4

EBS- 10.75x4 = 43
JEB- 2.40x4 = 9.6
DDEB- 2.86x4 = 11.44
RDEB- 2.04x4 = 8.16


so of the approximate 78 EB babies born in the US each year, 43 will have some form of simplex, 9-10 will have some form of Junctional, 11-12 will have a form of DDEB and 8-9 will have a form of RDEB.


You can break it down by subtype if you want.


**Incidence of EB births per one million live births (1986-1990)
Fine, Jo-David and Hintner, Helmut. (2008) "Life with Epidermolysis Bullosa (EB): Etilogy, Diagnosis, Multidisciplinary Care and Therapy" Springer-Verlag/Wien, New York.