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.

February 29, 2024

Personal Stories: Piper Rose

 🌹Piper Rose, my Leap Year Baby🌹


My daughter Piper was born via c-section at 39 weeks right at the start of the COVID madness. 2/29/2020 at 2:29pm   I had a normal and healthy pregnancy, but her birth was anything but normal.  When the doctor pulled her out of my womb, her lower body was completely raw.  The hospital staff was completely shocked and horrified.  No one had ever seen anything like it. As they attempted to clear her airway, blood started pouring out.   She was whisked away straight to the NICU before I could even see her.  


The doctor stitched me up as quickly as he could as I laid there sobbing.  I was alone in the delivery room, and had no idea what was going on with my baby girl.  


Once I went to recovery, all the nurses were quiet around me, none one would tell me how my baby was doing; I was terrified she was dead, 


Eventually, the neonatologist came into recovery to speak to me.  A nurse came with him as well.  I was sitting there with tears streaming down my face,  afraid of the news I was about to receive.  


They had good news and bad news.  The good:  Piper was alive and they think they knew what was wrong.  The nurse had seen it before, but only once in her 25 years career.  The bad: they thought Piper had a rare skin condition called Epidermolysis Bullosa or EB for short.  I had never heard of it before, but it sounded very scary.  


The doctor explained she had very fragile skin and would need to be wrapped in protective bandages to prevent infection.  I asked if Piper would get better; the doctor said he didn’t know.  Some get better, some get worse, some die.  And worst of all, there was no cure :( 



They said I could see her as soon as I felt up to moving.  I just laid there in shock at the news I just received.  I was full of so many emotions.  I was all alone and had no idea if my baby would live or die.  


A few hours later I felt I could move into a wheel chair and a nurse wheeled me up to the NICU.  There was my baby, in this incubator covered in bandages and wires.  But she was beautiful with her Fuzzy blonde hair and blue eyes.  She was a whopping 9 pounds, 9 oz and was 21 inches long. Aside from the skin issue, she was perfectly healthy.  They wouldn’t let me hold her just let, so I sat there rubbing her head telling her how much I loved her.  


The next few days, there were so many ups and downs.  They sent off blood for genetic testing to confirm her diagnosis.  The doctors began researching EB to learn how to best care for Piper.   I had also enlisted my best friend, Ava,  to research EB. I couldn’t bring myself to look on-line for fear of what I might learn.  Ava found so much on line about EB; some good, some bad, some terrifying.  She got us a list of the correct bandages and ointments to use, links to videos on how to bandage an EB baby, the best clothes to buy, diapers to wear and bottles to use.   She found support groups online with so many helpful people also going through the same thing.  


Over the days I learned how to carefully bandage my baby to protect her skin from getting worse or getting an infection.  She struggled to breastfeed, so she was fed with a special bottle.  At first she started out eating amazing, but slowly started to struggle when she was around 10 days old, her breathing began to get “noisy” but no one knew why.    Around that time, her doctor learned about some hospitals that had an EB clinic.  He contacted one of them and spoke to the dermatologist there.  She had dealt with EB for many, many years.  She gave the doctors some good tips and suggestions but feared Piper had the worst form of EB, Junctional Hertliz,  based on his description of her.  


A couple of days later Piper stopped eating altogether and a feeding tube had to be placed down her nose into her stomach.  It was so hard to watch my baby fight  for her life.  I felt she was fading right before my eyes. 


When she was 2 weeks old, we still had no answers.  The unknown of  COVID was delaying everything.   The doctor felt she might receive better care at a hospital with an EB clinic.  I was all for anything to help my baby get better.  He contacted the nearest hospital with an BB clinic, but because of the uncertainty of  COVID, they weren’t accepting transfers.  The dermatologist however, offered to watch a bandage change via video conference before deciding to override the transfer request.


The next day, everything was set up and the doctor at the EB clinic watched me carefully unwrap, clean and rewrap my fragile baby.  Afterwards, we had a meeting and the dermatologist felt her hospital couldn’t provide any better care than Piper was already receiving.  She said transferring her would be risky and she might not survive the transfer.  She also said that in her many years of experience of treating EB patients, she felt Piper had  the Junctional Hertliz form of EB,  and she likely wouldn’t live past four months.  I asked about having a feeding tube placed, only to be told she might not survive the surgery.  It felt like no matter what we did, she was going to die anyway. 


That was devastating news to hear.  The thought of my baby girl dying was more than I could bear. I spent the next few days holding my baby girl, trying to decide what was best for her.  I wanted her to live, but what kind of life would she have???  Would she be in pain everyday of her life?.  Would she ever walk?  Eat without a feeding tube?  Here I was a brand new parent, all alone holding my fragile baby girl, feeling totally lost.  


Over the next few days, Piper started to decline.  Blood work showed she was anemic and needed a blood transfusion.  Two days later her breathing got worse and she spiked a fever; more blood work was done, and it was discovered she had a blood infection.  Her doctor called the EB clinic for advice on how to best treat the infection, and the doctor asked to speak to me. She said I could choose to  treat the infection, and Piper might survive, or I could decide to make her comfortable and let her go.  It was an awful decision to have to make.  


I sat there in the NICU rocking my baby girl while trying to decide what to do.  But I never got to make the decision; at 2:50am on a Thursday, while holding my baby in my arms, she looked up at me and smiled, closed her eyes and took her last breath.  I waited too long to decide.  She was 21 days old.  


The autopsy revealed that her epiglottis was severely inflamed and it closed off the opening in the back of the throat that leads to the upper airway.  There was evidence of silent reflux, mucus plugs and swelling in her upper airways.  The NICU doctor didn’t know what any of that meant in terms of being related to EB or if it would have been treatable.  I later learned what it all meant and And the what if’s still haunt me to this day.



The day of Piper’s funeral, her genetic results came back, but I couldn’t bring myself to open them.  I put them in a safe place and tried to move on with my life.  Opening them wouldn’t change anything and I worried the results would make me question every decision I had made in those 3 weeks.  


On Piper's first birthday, I decided to open the results.  Much to my shock,  Piper didn’t have Junctional Hertliz EB like the doctor at the EB clinic suspected.  She didn’t even have Junctional EB.  The results listed her as having generalized severe EB simplex.  I was completely floored.  I had no idea what any of this meant, so I began to research the hell out of EB and specifically, EB simplex.  I couldn’t believe what I was reading.  Most with EB simplex survived.   I joined social media groups and read other people’s experiences.   I researched her specific Keratin 5 mutation. I spent hours on-line looking for any information I could on her mutation, c. 1421c>t, trying to understand what it meant,  and why it caused EB. 


I found another EB family with the same mutation.  The mom has EB, and 3 of her kids were also born with EB.   Sadly she too has an EB angel.  Knowing it wasn’t just Piper, made me feel less alone, but it still sucked. 


 I met with a genetics doctor to help understand how Piper got EB.  She explained how one gets EB simplex, and recommended I be tested.  It was discovered I didn’t have the mutation.  I tracked down her “father” and demanded he be tested.  He didn’t have the mutation either.  The doctor explained that her EB was caused by a spontaneous mutation.  A fluke of nature.   I learned that silent reflux was common in EB and totally treatable.  My baby could have lived.  The more I researched, the more angry I got.  I was so, so angry, why Piper??  Why me??   How could the doctor have been wrong?  Why did I listen to her??  My baby should have lived.  I was more angry at that point, than I had been anytime in the past year.  I felt like I had failed my baby.  I blindly trusted the doctors because that is what we are taught to do.  But the doctors was wrong, so very, very wrong.


The genetics doctor explained the odds of having another baby with EB would be very, very small.  But I didn’t want another baby, I wanted Piper.  I wanted my baby in my arms.


This entire experience has opened my eyes to so much in this world.  It has also caused me to trust doctors a lot less.  I am currently going to nursing school to be a NICU nurse.  I hope I never get an EB baby in my NICU, but if I ever do, I’ll give him or her  the best care I can.   Everything I do is for Piper.  I don’t want her death to be in vain.

 

Thank you to Garrett’s House for allowing me to share my story.  I miss my baby every single day and I wake up everyday to keep her memory alive. 


Lynnea, Piper’s mommy.


January 9, 2024

Updated Recommended Blood Work for those with EB

**New Release January 2024**

Recommend Blood Work for All Forms of EB starting at age 1 OR for those who have never had blood work done before


TSH

T4 Free

Vit D3

CRP

Sed Rate

CMP (comprehensive metabolic which includes liver and kidney functions)

CBC w/ Differential 

Vit C

B12

Zinc


Other Yearly Tests that are Recommended for all forms of EB

EKG 

Echocardiogram

Dexa Scan















Infants with Junctional EB should have the following done starting at age 1 month due to malnutrition issues and months and as needed going forward:


CRP

Sed Rate

CMP (comprehensive metabolic which includes liver and kidney functions)

CBC w/ Differential 

Vit C

Zinc

Vit D3


Additional recommended test for those with RDEB, JEB or severe EBS and/or have a history of anemia, liver and/or renal issues


Ammonia

Full Iron Panel

Copper

Expanded Hepatic Panel












EB knowledgeable nutritionists are recommending the following nutrients, micronutrients and heavy metal panels at least once every 1-3 years and then repeat as needed based on previous results, patients nutritional status and overall health. 


  • Vitamin A

  • B Vitamins

    • Thiamin – Vitamin B1

    • Riboflavin – Vitamin B2

    • Niacin – Vitamin B3

    • Pantothenic Acid – Vitamin B5

    • Vitamin B6

    • Biotin – Vitamin B7

    • Folate (Folic Acid)

    • Vitamin B12

  • Vitamin C

  • Vitamin D

  • Vitamin E

  • Vitamin K

  • Choline

  • Calcium

  • Chloride

  • Chromium

  • Copper

  • Fluoride

  • Iodine

  • Iron

  • Magnesium

  • Manganese

  • Molybdenum

  • Nickel

  • Phosphorus

  • Potassium

  • Selenium

  • Sodium

  • Zinc

 


Heavy Metals: Arsenic, Cadmium, Cobalt, Lead, Mercury 


February 6, 2023

Back to Blended Diet Feeds

Due to a side effect of a medication, we have gone from 90% oral feeds and 10% g-tube feeds, to 90% g-tube feeds and 10% oral feeds.

Because he is much older now, his nutritionist helped me determine the amount of calories, vitamins and nutrients he needs daily to heal, gain and grow.  

Though physical activities levels vary from person to person, those with EB tend to have very high Metabolism because the body is in a constant stay of healing and regenerating skin.  That requires so much energy, calories and nutrition. 


This is the calculator the nutritionist used for us: DRI Calculator 


While Joey is a very active child, she recommended choosing the very active option from kids with EB since there is no specific calculator for those with EB.  

Here is the recommendation for a pre-teen male with generalized severe EB Simplex.  For the Vitamin, Mineral and Nutrients, she recommended making sure he gets at least the minimum amounts thru food but no more than the maximum amounts per day.  We will do blood work in 6 months to see if these recommendations are working for him. 


**Again, please check with your child's doctor before changing their diet, because what is best for one child, isn't best for all kids with EB.** 







The nutritionist also sent me the following about what is most important in wound healing from a nutritional standpoint. 



Vitamin D: In recent studies have identified Vitamin D receptors in a variety of tissues where their presence was previously unknown. Cathelicidin, an antimicrobial peptide induced by vitamin D, promotes wound healing.  These researchers concluded that vitamin D and its receptor signaling regulates structural integrity and transport functions of epithelial barriers with implications for wound healing.


Protein: Protein’s most important use is production of collagen that serves as scaffolding for scar in healed wounds. The proteins are also necessary for forming new blood vessels and encouraging healing cells to migrate to the wound surface. 


Amino acids: Protein is made of amnio acids. Among amino-acids, those that play an important role in wound healing, are arginine and glutamine. Arginine is essential for the inflammatory process and synthesis of collagen. Arginine also stimulates the immune system to begin the healing process. Glutamine plays several roles via its metabolic, enzymatic, antioxidant, and immune properties. In wounds, it protects against the risk of infections by stimulating production of immune fighting proteins. Glutamine is also a precursor of glutathione—an antioxidant and an essential cofactor in stabilizing cells.  The recommendation is to have some arginine and glutamine included in the protein supplements.


Vitamin C: Vitamin C, also known as ascorbic acid (AA), is involved in all phases of wound healing. In the inflammatory phase it is required for neutrophil apoptosis and clearance. During the proliferative phase, AA contributes towards synthesis, maturation, secretion and degradation of collagen.  The role of vitamin C in wound healing is believed to be due to an influence on collagen formation, immunomodulation, and antioxidant functions. Deficiency results in impaired immune response during the inflammatory phase with increased capillary fragility and reduced collagen tensile strength and synthesis during the proliferative and remodeling phases,It also stimulates collagen and elastin formation. It is essential for stabilizing the structure of collagen with strong bonds and crosslinks to strengthen the healing tissue. Without this stabilization, the structure becomes fragile. Vitamin C also provides tensile strength to newly built collagen; otherwise, new tissue could not stretch without tearing. Tensile strength is important in pressure ulcer healing because healed pressure ulcers are susceptible to future skin breakdown. Vitamin C also is required for proper immune system function, a consideration in patients with open wounds. 


Zinc: Zinc plays a major role in regulating every phase of the wound healing process; ranging from membrane repair, oxidative stress, coagulation, inflammation and immune defense, tissue re-epithelialization, angiogenesis, to fibrosis/scar formation. Decreased zinc levels result in decreased cytotoxicity of natural killer cells, impaired phagocytosis in macrophages and neutrophils, and decreased number of granulocytes. Also with zinc deficiency, B-cell precursors and mature B-cells are reduced.  Zinc deficiency affects all phases of wound healing. In the inflammatory phase, there is decreased immunity and increased susceptibility to infections. In the proliferative phase, there is impaired collagen synthesis and tensile strength. Finally, in the remodeling phase, there is a dampening of fibroblast proliferation, collagen synthesis, and epithelialization, therefore the body needs adequate Zinc stores. However, excess zinc supplementation can interfere with the absorption of other cations, specifically iron and copper.  Therefore supplementation should be based on individual need. 



Vitamin A:  It’s one of the most essential nutrients for wound healing since it helps “Control Inflammatory Response”. Vitamin A is required for epithelial and bone tissue development, cellular differentiation, and immune system function.Vitamin A is known for its ability to stimulate epithelial growth, fibroblasts, granulation tissue, angiogenesis, collagen synthesis, epithelialization, and fibroplasia.  Vitamin A also has the unique ability to reverse the inhibitory effects of steroids on wound healing. Steroids reduce the ability of healing cells to migrate to the wound and build strong collagen bonds. Vitamin A can reverse this effect! In addition to its role in the inflammatory phase of wound healing, Vitamin A will also strengthen the collagen bonds and reduce the ability of wound inhibitory enzymes to counteract the healing process.


Iron: Iron was previously postulated as beneficial in wound healing, due to its status as a cofactor in collagen synthesis. In wound healing, iron deficiency results in impaired T cell and phagocyte function in the inflammatory phase and decreased tensile strength and collagen synthesis in the proliferative phase  However, iron supplementation has been shown to prolong inflammation, and no evidence exists that iron supplementation benefits wound healing. Patients with iron deficiency anemia, which is known to inhibit wound healing due to decreased oxygen transport to proliferating tissues, may benefit from iron supplementation; however, more data is required to establish treatment guidelines.


Blood sugars: Though not a nutritional supplement, blood sugar control is essential for healing. Though glucose is the fuel for cells, when the blood stream is saturated with sugar, the healing cells become sluggish and stop healing.  They also block the path for important nutrients and oxygen to pass into the wound.  Unfortunately, bacteria use this excess sugar to wreak havoc on wounds.  This leads to an infection with no healing cells able to fight the bacteria.  We often see normally benign bacteria cause severe wounds due to elevated blood sugar.








January 26, 2023

Rachel and Hon

Today we have a guest blogger with us!  Rachel is here to share a story about her husband Hon❤





I fell in love with a Butterfly…

I met Hon back in 2009. He was busy working for whizz kids, teaching children how to use their wheelchairs. We immediately hit it off and decided to go on a date to Monkey World, Hon always jokes I took him to see monkey butt! Hehe! We fell in love. We got married a year later and the rest is history…

We travelled and went to new places as often as we could. Hon has such a zest for life, nothing stops him, certainly not EB. Before we met, Hon went to University to get a Degree. Hon is highly intelligent and the bravest person I know. Hon also did a Skydive in 2005, he really is fearless!

Life with Hon is never boring, especially with EB, it certainly makes life unpredictable! Hon has Junctional Non- Herlitz form of EB since birth. Junctional is one of the rarer forms of EB. There is no cure. Hon has used a wheelchair for decades due to the chronic blistering and open wounds on his feet, they are raw. Hon has open wounds head to toe. 

We spend hours and hours doing baths/ dressings/ creams/ popping blisters daily.  EB is 24/7, 365 days of the year, it is relentless. Hon is at a very high risk of infection and Sepsis due to the amount of open wounds and the immunosuppressant’s he has to take.

Hons attitude is always you have to control EB, otherwise it will control you… 

Hons Kidneys deteriorated in 2010 we hit Dialysis with a bang. I quickly learnt how to do haemodialysis, so we could do it at home. 2 years on, we had a miracle donor and the Worlds 1st Kidney Transplant with EB in 2012.  10 years on, still going strong. 

Due to the Kidney Transplant, Hon has to take several immunosuppressant’s, this has clipped our wings during Covid times, as Hon is clinically extremely vulnerable, so we shield as protection. The immunosuppressant’s have caused 2 episodes of Squamous Cell Carcinoma last year, leaving Hon with extremely large/ deep surgical wounds to tricky areas, along with the usual EB wounds. 

For me the hardest thing to watch is the Corneal Abrasions. They are spontaneous, happen when you least expect it. Hon describes it as though someone throws acid in his eyes. The pain must be excruciating. All we can do is keep our eyes closed, in a darkened room, with eye drops. Sometimes its days, sometimes weeks. The worst was 2 months, to be rendered temporarily blind and not able to open his eyes is heart-breaking.  I always feel so helpless, as there is nothing I can do except be there and love him. 

We are very lucky, we have each other and we battle EB together, we are a team. Hon is truly amazing, he is my soulmate, my forever love and my Butterfly x


October 31, 2022

20 years of EB Stats

Normally I would go in great depth and detail when it comes to EB statistics, however, I have had many of my ideas and posts "taken" from my blog without permission and passed off as the work of someone else.  So I am hesitant to share too much detail for fear it'll be "stolen" as well.


Between the years 2001 and 2021, I came across 2,018 new EB babies born during that time frame. (world wide)


1,003 cases were boys

987 cases were girls

in 28 cases the gender was not known


The most common month to be born in was July.  In the US, Texas had the most cases of EB babies.


32% (650 babies) were born with some form of Junctional EB

33% (663 babies) were born with some form of EB Simplex

31% (623 babies) were born with some form of Dystrophic EB

less than 1% (3 babies) were born with Kindler Syndrome 

4% (82 babies) had an unknown form of EB


The mortality rate for that period of time was 19% (390 babies)