Garrett's House is dedicated to the support, advice, and education of a genetic skin condition called Epidermolysis Bullosa or EB for short. Currently there is no cure or effective treatment for EB. Please take a moment to learn about EB, and how you can support others who struggle with EB everyday. Garrett's House also honors the memory of those who lost their brave fight against EB. Please check out the Garden of Angel to learn more about the precious butterfly angels.

September 14, 2012

Part Five: EB in our family

The purpose of this post is to give the family, friends and followers of baby Easton an idea of what life is like with severe EB Simplex.  My family and I have EB Simplex Dowling Meara; it is one of the most severest forms of EB Simplex.  You can read about my early life living with EB here.  But despite having EB I think I lived a mostly 'normal' life.  I went to a regular school, had friends, rode a bike; in middle and high school I played tennis and was in the marching band.  Sure I still got blisters, but I didn't care.  It was more important to me to do those things and be like a normal kid that it was not to get blisters.  I graduated from high school with honors and went onto collage.  I got a degree in legal studies.  I have been married for almost 12 yrs and have 6 children (4 on earth and 2 in Heaven).  I am a stay at home mom during the day and work part time for a major retail chain evenings and weekends.  So yes I am VERY busy!

My oldest child was born in late summer 2002.  We named her Samantha and she was born with EB too. She was missing skin on her ankles, top of her feet and wrists.  At the time she seemed very severe.    She spent 13 days in the NICU before we were allowed to bring her home.  Only to end back up there a week later due to an infection.  We battled infections for the first two months on and off.  Her skin conditioned to get worse as she got older and by the time she was 4 months old she was missing skin on about 75% of her body.  Here she is at age 5 months (we didn't own a digital camera at the time and borrowed one from a family member when possible so I don't have many digital pictures of her from early on)

Her skin gradually got better as she got older.  But having EB did cause her some delays.  She crawled at 13 months; pulled up around 17 months; walked around 19 months.  Her skin was noticable better by age 12 months, even better by age 18 months and by age 2 we only had to wrap her torso.

Sami at age 2

Today Sami is 10 and in the 5th grade.  She attends a regular school, has MANY friends, is on the A/B honor roll and is involved in MANY activities! She also learned how to ride a 2-wheel bike recently!  She still gets blisters now and then but overall her EB is doing very well.  (she has other health issues that are more troublesome than her EB is at this point.)


Then in December of 2004, we had our second child, Garrett.  He too had EB and was MUCH more severe than Sami was at birth.  Sadly he developed MANY complications, one of which was a blood infection along with blistering in his upper airway.  His infection was not diagnosed in time and sadly Garrett passed away 1 week before Christmas in 2004.  He was 12 days old.  You can read about his whole story here.

We assumed Garrett's complications were just a fluke thing and NEVER expected it to be common among others with EB Simplex. (we later learned about 5% of those with EBS-DM have massive internal issues as well)  Then in March 2011, we had another baby boy, Joey.  He too was born with EB and he was even severer than Garrett was.  Joey was missing skin from his knees down on both legs, ankles, some on his hands and even had some blisters.  (Sami and Garrett were not born with blisters).  Joey did very well after birth and was able to go home with me!  He was a good eater and healing well.  But at ten days of age he too started having airway issues:(  He went into respiratory failure on March 18th.  He spent 7 days on a ventilator.  His airway was scoped only to find minor blisters and some inflammation likely caused by severe acid reflux.   We also learned that he was aspirating every time he swallowed which likely contributed to the issues as well.  A feeding tube was surgically placed in his stomach and that was how he was feed for 4 months until everything healed and it was safe to eat my mouth again.  

Here is Joey at birth

Joey around 4 months old

Joey's skin got worse before it started to get better. You can read a blog post I did after he was born called,  'there is nothing simple about simplex'  

Joey is now 18 months old.  He started to crawl around 12 months and walked around 14 months.  He battles infection frequently but none severe enough to need IV meds.  He still has his g-tube and we use it mostly for meds and on days he doesn't eat enough (like today) He gets colds frequently and does cause some EB related upper airway issues.  We are able to mange them at home using breathing treatments, oral steroids and a machine to monitor is o2 levels and heart rate.  Though his skin is better today than it was at birth,  it is no where near where Sami's was at this age.  I still spend one hour a day cleaning  his wounds and redressing his entire body in bandages. I hope he will get to the point where he will no longer need bandages some day but for now we do what we have to do!  

Here are some recent pictures of Joey 

He is a happy toddler who enjoys eating graham crackers; yogurt; candy and cheese.  He loves to play with this big sisters and playing outside.  He is also a  BIG fan of spongebob squarepants:)  

*disclaimer: The purpose of this post is to share how EB Simplex affect our family.  Everyone with EB is different.  At the time of publication the type of simplex Easton has is unknown.  NO ONE knows how his EB will be next week, next month or even next year.  I just wanted to give his family, friends and followers a brief glimpse of the life of another EB simplex family.  There are many out there; we are just one of them.  Not all EB simplex is this severe but many cases can be.   I also have two other children with do NOT have EB.  With most forms of EB Simplex the chances are 50% with each pregnancy. MY EB was caused by a spontaneous mutation that occured when my mom got pregnant with me.  Neither of my parents (or siblings) have EB.  One can get EB Simplex because one parent has it or it can be caused by a spontaneous mutation that occurs at conception.  There is NOTHING that causes the mutation to occur, it just does. 

I ask that you NOT judge me for choosing to have children. I knew the risks and for me it was worth it.  I do not think my life with any worse off because I was born with EB.  Nor do I think my children's lives are any worse off either.  Because of EB I am able to share my story, the story of my children and am able to offer support and guidance to other EB families.  If you chose to leave a comment I ask that it be kind and positive.  Easton's family needs all the positive support they can get.  Any negative or hurtful comments will be deleted.  

If you wish to visit our family's blog, you can find it here: Four Busy Bees and Two Little Butterflies

You can learn more about EB Simplex and the possible complications here 

Thank you for taking the time to read this!  I hope you have a better understanding about EB Simplex.  

Part Four: EB Simplex Dolwing Meara

EB Simplex Dowling Meara is the form of EB that my family and I have.  I wanted to do two post on EBS-DM, one about the medical aspect of it and another one on how EBS-DM affects my family.  

The following information was obtained from the DebRA website and from the Electronic Textbook of Dermatology.  

EB Simplex- Dowling-Meara variant (Herpetiformis) 
INHERITANCE: Autosomal Dominant and can occur due to a spontaneous mutation too

Common Manifestations:
  • blisters and erosions present at birth or arising shortly thereafter
  • acral sites (arms/hands, legs/feet) most often affected, but generalized pattern may also occur
  • milia may be present at healed sites
  • focal atrophy sometimes present, scarring is rare, except at sites of congenital (those present at birth) lesions
  • Blisters
  • Keratoderma - Thickened skin on palms of hands and soles of feet. Confluent keratoderma in EBS-DM.
  • Nail dystrophy - The presence of rough, thickened or absent finger or toenails.
  • Problems with the soft tissue inside the mouth
  • often there is improvement at puberty especially with nail dystrophy
Less Common Manifestations:
  • Anemia - A reduced amount of red blood cells, volume of red blood cells, amount of hemoglobin. Hemoglobin is the oxygen carrying portion of the red blood cell. The heme aspect of hemoglobin, is the iron compound that makes up the pigment part of the hemoglobin molecule. Anemia is more common in the severely affected individual.
  • Growth retardation. This is more common in a severely affected individual.
  • Gastrointestinal tract - Involvement of the GI tract may include blisters in mouth, esophagus and/or anal margins.
  • esophageal involvement occurs including expectoration (throwing up) of esophageal casts (lining of the throat)
  • mild flexure contractions may occur
  • occasional dental abnormalities including natal teeth (teeth present at birth), anodontia
Rare Manifestations of EBS:
  • Granulation tissue - The appearance of red fleshy tissue which is capillary formation during tissue healing This would be a rare occurrence in a person affected with EBS. This is more commonly seen in a person severely affected with Junctional EB.
  • Dental caries (cavities) - This is more common in people affected with RDEB or JEB however, if mouth care is not performed regularly it will increase chances of cavities.
  • Ocular (eye) involvement is more commonly seen in people with RDEB or JEB however, it has been reported in some forms of EBS.
  • Pseudosyndactyly - Fusion of fingers and/or toes. This manifestation is more commonly seen in RDEB. In rare instances it has been reported in EBS-DM.
  • Enamel hypoplasia - Underdeveloped enamel upon the teeth. This is more prevalent in patients with JEB.
  • Respiratory tract involvement. Rare occurrences have been noted in the more severely affected individual.
  • Genitourinary tract involvement. Rare occurrences involving the GU tract have been reported in some forms of EBS.