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.

A new series...

I have a HUGE goal of doing a new up-to-date series on EB topics.  Not exactly sure how often I will get time but my goal is one post a week!!!

So far I done three parts:

Part One: Top 10 things new EB parents need to know starting on day 1!

Part Two: If a family member or friend has a child with EB

Part Three:  Bath and Dressing Changes

I know this will be so beneficial for new EB families so that will be my motivation to write at least one post per week!  I have no idea how long the series will be, I guess when I run out of topics!  

Part Three: Bath and Dressing Changes

I have been wanting to do a post (with pictures) on how we do dressing changes to give other EB families ideas for their own set up.

  here is the area as a whole

gauze opened and tubifast pre-cut to size (keeps the gauze in place)

 lancets to pop the blisters:(

 ointment we use on his wounds

twice a month I spend time prepping 15 days worth of bandages. It saves SO much time each day.  It takes me about 6-7 hours to open the packages cut the pieces, wash/dry/cut the Tubifast, and sort them into 15 sets of bandages.  I store them in gallon size Ziploc bags to keep them safe and dry.  It's also handy to have them ready to go in case he is admitted to the hospital or we have to leave quickly for some reason.  Just grab the bags and go!

For those wondering how much we use each month: Right now we use 2 pieces of 6x8 transfer, 1/2 of a 8x20 transfer, 1/4 of an 8x20 lite, 1/2 of 8x8 mepilex, 1 6x6 mepilex, 1 6x6 lite, 1/4 of the restore lite foam, about 1-2 sheets of the 6x8 restore contact layer or mepitel, 3 ABD pads for protection only, green, blue, and yellow tiufast, 2 rolls of 4" gauze, 2 rolls of 3" gauze, and 1 roll of 2" gauze PER DAY so when you times it by 30 days it comes out to  A LOT of bandages.

these are pictures of where we keep SOME of his supplies.  It is the items we use daily, the rest are stored in the dinning room 

Bath Time:

For his bath time he is big enough to sit in the regular bath tub on a soft towel.  I fill the tub with water up to his waist.  Depend on how is skin looks I either add Vinegar, Chamomile Tea, baking soda or just regular baby bubble (he LOVES bubbles).  I left him soak (with his bandages still on) for along as he wants too.  Then I rinse him with a separate container of whatever is in his bath water so I don't spread the bacteria already in his bath water onto the rest of his body.  If he was sitting in bubbles or baking soda I just rinse with clean water.  Then I move him to the bandage table and change one limb at a time.  5 days a week I change his bandages by myself; and he itches SO much when his bandages are off that I can only change one limb at a time so he doesn't itch himself raw.  I remove the old bandages.  Pat dry with a towel or dry on low heat with a hair dryer (damp skin can breads bacteria and fungus).  Then I apply any ointments I think he needs (it varies from day to day depending on how his skin looks).  Then I re-wrap his limbs and torso. Most days he drinks his milk or has a piece of candy or plays with toys and corporates for the most part.  But there are some days he screams and thrashes around the ENTIRE time:(   Those days are not fun.    He is what he looks like all wrapped up!

That is how we do bath and bandage changes here.  Everyone has their own way of doing things and it all depends on the age and severity of their child.  It does take awhile to find what works best for everyone but I wanted to give some examples to help other families figure out what might work for them!  






*disclaimer-I am not a medical professional. I have lived with EB myself for 35 years and have been an EB mom for 10 years.  These are things I have learned along the way and as well as input from other EB parents. 

Part Two: If your friend or family member has a child with EB...

This is a post for the family members and friends of those who have a baby or child with EB.

When you have a loved one gives birth (or adopts) a child with EB, their entire life is turned upside down and it will never be the same again.  A lot of the time family and friends want to help the family but are not sure how to help a lot of the time. This post will give you many examples on how you can help out and make this time in your loved ones life a little easier!

Don't ask if you can help, OFFER to help!  9 times out of 10, parents of a newborn with EB will not want to ask for help even though they really need it.  So instead of asking what you can do, offer something to help with some you can or are able to do.  Here are just some examples of thing that would be helpful to the family while the baby is still in the hospital

• offer to be the family spokesperson.  Be the one who updates everyone else, or the one who researches EB and relays the info to the family. 
• make a meal (or two) and bring it over to their house or to the hospital.  Organize a meal schedule among family and friends (there are some great websites that you can create an account for the family and other people can sign up to bring meals)
• if they have pets offer to stop by to walk the dog or feed the cat, water the plants, mow the lawn,  clean the house, etc...something that needs to be done but isn't on their list of priorities right now.  

Once the baby comes home the family will have other needs.  Some more examples of ways you can help:

• offer to come help with bandages changes.  Most cases they take 2 or 3 or sometimes more people to complete.  It is always good to have an extra pair of hands.  And if you are squeamish about blisters and open wounds you can help with setting/pre-cutting up the supplies or help with clean up.  Or if they family has other children you can help with them during dressing changes.  You can even set up a schedule for family and friends to take turns coming over to help each day.
• meals brought to them at this point will still be helpful
• go over to assist with laundry and housework or just to sit and hold the baby so the parents can get a quicker shower, eat a meal together or just take a nap!
• if there are other children in the home, invite them over for play-dates or sleepovers or just go over to play with them.  Their lives have been turned upside down as well and they are probably scared and upset about what is happening to their new sibling.  
• if their other kids are in school, offer to help drive them to and from school;  taking an EB baby out in the car is not an easy task.
• if you are planning to run out to the store call and ask if you can pick up anything for them.  Again, taking an EB baby out just to pick up a gallon of milk is a HUGE ordeal.  
• offer to going along to doctors appointment; an extra set of hands is always good to have!  
• offer to learn how to take care of the baby so the parents can get some time away together sometimes.

If you don't live close by or are unable to help physically, here are some other ways you can help:

• start a fundraiser for the baby; even with the best insurance it doesn't always cover everything, particularly things like special diapers, clothing, over the counter ointments and medicines as well as doctor co-pay and prescription co-pays.
• donate things like gift cards to grocery stores, gas card or gift cards for restaurants that offer take out.  
• a large group of people could chip in and hiring a cleaning service for the family for a few months or even a year!
• email/call/text/send cards to the family letting them know you are thinking of them and/or praying for them. 
• make a donation to an EB organization in the child's name
• educate others about EB; spread awareness! 

things NOT to do/say to the family of an new EB baby

• don't tell them they did something to cause this or it is their fault this happened
• don't tell them its better to let the child die or give him/her up for adoption
• don't ignoring them or pretending EB doesn't exist
• never, ever tell them NOT to have anymore kids; that is their decision not yours!
• don't offer them some "cure" you heard about from your neighbor's grandmother's nurse.  EB is genetic and unfortunately there is no magic pill, or cream, or food that will make it go away.   
 

 

*disclaimer-I am not a medical professional. I have lived with EB myself for 35 years and have been an EB mom for 10 years.  These are things I have learned along the way and as well as input from other EB parents.