Carnival, Talent Show & Prom OH MY!

So here’s my promise to try and do a follow up blog to the amazing adventure Bianca had at Camp Wonder! Bianca’s cabin was filled with so many fun girls and an amazing group of counselors. There was a Carnival theme day where they were all able to have some carnival fun! There were masquerade masks and tons of fun beaded chains handed out – I know because a nice bag size of those made it home with us. There was also a fun cupcake activity event! She said she chomped it down!

Another fun event for Bee was the Talent Show. Apparently there’s a video floating around somewhere of her singing “I’m wide awake” by Katy Perry. Sadly it hasn't surfaced for me to experience it…she received some great compliments that were passed down to me. She also did the “Cup (When I’m Gone)” song  by Anna Kendrick while she juggled around some cups. Still to be confirmed but I did manage to snag a great picture of that event!

  

Finally the real amazing day she had was the one that hosted Camp Wonder’s Prom! Camp Wonder sets this up because, sadly, many of these children do not get to experience a real prom. From what I understand there was a boy that was interested in asking her to the prom but he just didn't know how to approach her…how CUTE is that?!? Apparently, my child at the end decided she wanted to go to prom “stag”! She was more interested in hanging with her girlfriends than a date for prom. We weren't ready to have her go to prom but apparently Camp Wonder had everything in place for the kids to look dapper at their main event. You see, Camp Wonder managed to get all the prom attire donated by the employees of Cetaphil US – dresses, suits, ties, you name it! It made for such a fun event to just pick out a prom dress! So here I am thinking Bee is going to get a modest dress with sleeves and very comfy. BOY was I wrong! My daughter decided to pick a black/white tulle dress with tons of prickly, shiny and beautiful details. Oh and sleeveless! I do admit she worked that dress.

  

Over all her experience at Camp Wonder was such an empowering one! She did mature about a year or more! She seems more confident and in actuality feels more at ease that she’s in good company when it comes to speaking about EB to her peers. I have seen her form some amazing friendships and created some unforgettable memories! I can only pray for good health and many positive days ahead of 2013 into 2014 so she can make it back to Camp Wonder next year!

I have to give some personal thank yous to a few people out there! Christine Tenconi who contacted me and answered many questions I had regarding camp, including setting up all the travel arrangements and my endless emails. Also, Francesca Tenconi for having the same ease and confidence to have established such an amazing camp! Dedication and hard work has paid off exponentially for so many families thanks to her unselfish ways! Also, Richard  (I fail to remember his last name) who gave us a stern talking to at camp (by us I mean Robert and I) to let our little girl become even more independent and to have faith that those that are in the med shed really do know and understand about EB and it’s medical involvement/care. Then there’s wonderful Danielle Malchano from National Rehab who not only is a part of our wonderful supplier that delivers Bianca’s bandages every month but was also one of her nurses at the camp that helped Bianca with bandage changes, showers and so much more! Then there are those counselors like Sarah, Alexis and Carter plus Jassamine who texted me a picture here and there to put my worries at ease. Thank you as well to the Taylor Family Foundation for providing such an amazing venue to host this special camp! I am eternally grateful to so many more that I can’t remember a name but do remember a face! This has been overall an experience we will never forget!

See you in 2014 Camp Wonder!

Goodbye Mother…Goodbye Father…I am here…at Camp Wonder! Day 1 & 2

Yes goodbye mom and dad…hello to her fellow peers! Those were the words repeated to me not even an hour after settling into Camp Wonder the week of June 23rd, 2013. The camp is situated in the breathtaking city of Livermore, CA. This opportunity has been presented to us several times before but it wasn’t until this year that we felt Bianca was ready for a sleep away camp (with the parental units not even 10 minutes away in the outskirts of the city). It took several months of getting her comfortable with the idea. I managed to engage a young lady by the name of Ariana to speak with her about camp. I also recruited another EB mom’s son, Zach who we’ve known for many years to speak to Bee about the excitement that can only happen at Camp Wonder. These two were instrumental in getting her all psyched for the adventure!

While I do not have insight into everything she did while at camp I do have a few highlights put together between pictures and conversations. Of course this will be 100% from a parent’s perspective and a few details from Bianca to fill in the gaps.


Day 1

We arrived on a bright beautiful Sunday afternoon at Camp Arroyo which hosted Camp Wonder’s week of magic. Registration took some time since the many doctors, nurses and med students that were volunteering needed to interview us regarding medication, bandaging routine, feedings, etc… They were thorough in their questioning and each team was made up of 4 – 5 interviewers. No one missed a beat – if someone omitted a question another one followed up. Then up to the main nurses’ station to speak to what seems like the head nurse or medical personnel. We recapped what was covered and any concerns I had regarding dressings. Really I had none because I was planning on coming every day to do the bandage changes. Little did I know this was about to change. I was in awe that the team absorbed this information so well because I am in a constant battle trying to explain it to the common world. But these are people that have been around EB from a few days to several years. I usually do not encounter such a knowledgeable group under one roof during our regular lives.

Once we were registered we were able to take a stroll up to the cabin where Bianca would spend the next five nights. Her cabin’s name was Willow. She had a bottom bunk and she was sharing the room with five other campers. What an experience. She was a bit apprehensive at first but Sarah, one of her wonderful counselors, quickly put her at ease and she evolved into a young mature lady in front of my eyes. We made our way to the mess hall where I said goodbye and headed – hesitantly – to the hotel. We had to come back anyways because we left some items she needed for her stay. When I returned she looked at me and said “What are you doing here? We already did bandages!” Of course you can only imagine how surprised I was that she was okay for a few hours on her own already. I quickly told her I came for a quick minute to drop something off. Gave her a kiss good bye and left.We received a phone call during the evening hours that Bianca got her first blister above her eye. I freaked out and thought FOR SURE she was going to ask me to pick her up. Instead she said she was fine it was during a game of Oreos on the forehead and she was snipped by mistake. If she wasn’t freaking out then there was no reason for me to freak out either. 


Day 2

Rob and I got up early in the morning to head back to the camp and see when we can do dressing changes. We are all new to this so I did not realize that there are time-slots provided for parents. When she saw me she once again said “What are you doing here? I’m playing and having fun mom. Can we do dressings later on?” I was rather taken aback by her statement. While Sarah, the counselor, was checking to see if there was a spot open at the med shed Richard (one of the camp director) came to speak with us. His words, as stern and solid as they were hit a core. He said that while no one will ever care for Bianca the way we do the medical shed is equipped to handle any and all severities of EB. The staff is on call 24 hours a day with dressing changes happening around the clock well into the night hours. It is all they do while at the camp. I had to step out, compose myself and walk back into the mess hall. I was a ball of nerves. Is this man really asking me to hand over 10+ years of caring for my child’s medical needs to a bunch of strangers? Albeit, caring, unselfish, knowledgeable and professional strangers but exactly that – S.T.R.A.N.G.E.R.S! So the next step is to see how Bianca would react to the news. I quickly gathered the name of the nurse that would be working in the shed – Nurse Pam. Bianca had already met her the night before. So when I approached her I asked her if she wanted to continue playing and then Nurse Pam would take care of doing dressing changes for her while at camp. Her response…a swift “sure no problem” – I felt all the air being sucked out of me when she said this so nonchalant. Bee 1 – Mom 0. Okay let me step this up a notch…I asked her if she would be okay with the nurse helping her with showering to do her dressings and she once again didn’t hesitate and said “why not…I shower on my own…I should be okay” another sucker punch to my soul! Bee 2 – Mom 0. So at this point I digressed. I had to come to terms that my little girl was a little bit more prepared than I was for this whole camping situation! 
Walking back to the car proved to be one of the most emotional experiences for me in a long time. I was leaving behind my little girl in the capable hands of medical professionals that understood EB. Someone else was going to be keeping an eye on her…someone else was going to be doing dressing changes…someone else was going to be helping here…someone else that’s not me! The last time I had to do such a thing was back in 2002. Looking back at the situation I believe the reason I took it so hard was because I’ve been here before – it just wasn’t during a positive time like Camp Wonder. Time to re-frame my mind!


Theme from Camp Wonder

• Day 1 - Arrival - Hellos & Welcomes 
• Day 2 - Floats & Parade plus they got to pick their prom dresses & accessories 

In her bunkbed 

Front door of her cabin 

Enjoying the music 

Fooling around w/Mr. Zach 

From crawling on the floor at their first PCC to Camp :) 

With her new friend - Charlotte 

Parade Day! 

Bianca and Camp Director Richard 

Hanging w/her new friend Briana 

A Decade Later…

It has now been more than 10 years since our daughter made her grand entrance into this world. I often wonder what force has kept us afloat in the last ten years and how can I bottle that force to keep us going for the next 50+ years ahead!

The Ugly

It has not been an easy ride – we’ve had the skin on her hands and feet degloved numerous times, restless nights of wounds draining right through the bandages and waking up a bloody mess, many dilemmas with eating a whole plate of soft foods due to lodging and tearing of the esophagus, bathroom issues that range from discomfort to dreadful, eye abrasions and lesions that makes it painful to see sunlight and countless trips and falls that caused tearing, shearing and shifting of skin on her nose, cheeks, lips, elbows, knees, thighs, legs and so on. You name it and some aspect of her body inside and out has endured the wrath of EB.

We’ve had more heart to heart conversations than we can count on both hands attempting to explain why she has certain limits and lessen the desire to do certain things that can cause her more physical wounds. We spend nights before an event making sure all precautions are taken care of just to have a few hours of fun – lubricate the eyes so we do not wake up with unexpected eye abrasions, properly do wrappings to make sure we have little to do the next day and get out of the door at a decent time, prepare food and snacks to take as backup in case there’s no “EB friendly” foods at said events and pack a kit with all the wound care necessary for a full dressing change just in case we have an accident. Going on vacation requires months of coordination and mapping to make sure we can maximize our time together. Nothing is ever simple with EB.

The Pretty

The one thing that has managed to stay strong and grow with confidence is her soul, spirit or inner light! Something that EB has not managed to ravage and take control of! In every sense of the word we have a “normal” 10 year old who is a 4th grade gifted student, a part of her school’s chorus ensemble, an active participant of the Alpha Club and a school sponsored Diva’s Club (a club specifically geared towards young girls speaking their minds in a productive and safe environment). Aside from this she has made some great friends. She has two very good friends, her BFFs if you will, that help her out at school. They hang out, go to the mall, movies, fair, bowling, plays, you name it they’re doing it.

Bianca enjoys playing with her dolls, draws and colors, sings, dances, reads, watch TV, going out to dinner and shopping. All things a girl her age LOVES to do…you know spend her parent’s money. She picks up her toys, organizes her book bag, cleans her plate, brushes her teeth, gets dressed, combs her hair and showers on her own. Speaks her mind quite often and leaves us in awe at how intelligent she really is for her own good. When one of us is sick she’ll try and be helpful by bringing a cup of water, a pillow, blanket or a tissue.

The Truth

In reality nothing is easy in life period. I have come to realize that we are all equipped to handle what is thrown at us in our lifetime. We have the tools within us to get through this life one way or another. We have also come to realize that we are all a statistic – something some of us in the EB community become obsessed with. When we jump in the shower, get in our car, walk down the street, etc…we have a risk of something happening. That’s why I have removed the “statistic mentality” from my frame of thought. Let's be honest there are limits to the things you and I can do - like jump off a bridge without a parachute or walk on broken glass... Overall this road we are walking has not been easy. In retrospect if it wasn’t for EB we would not have visited such great places like Denver, San Francisco, Nashville, or Cleveland to name a few. Also, our family would not have met so many great families that are dealing with EB and formed such a level of gratitude and understanding that many do not get to experience. The bonds we have created will last for many generations to come. As much as EB can sometimes try to isolate us and tear us apart our family has learned to use it as a tool to achieve interdependence with many outside of our own household. Ironically enough it has made us much more social than we were before our beautiful daughter was born. So take that Epidermolysis Bullosa! You can knock us down but you can’t keep us there…

This or That But Always F~A~I~T~H!

Less than two weeks before Bee's 10th birthday & my quest continues to keep her health at an optimal level - tonight just a few minutes ago I received an email from the EB Care Registry stating the following:

"Thank you for all the additional information. I consulted one of the clinical experts for the EBCare Registry who agreed with moving her to the generalized, other category (RDEB-GO)."

So Bianca has been moved from the Recessive Dystrophic EB - severe generalized (RDEB-SG, formerly RDEB-HS) category to the Recessive Dystrophic EB - generalized, other (RDEB-GO, formerly RDEB-non HS). This doesn’t mean her challenges and way of life changes but it just solidifies what I’ve always known – that RDEB - no matter how clean cut you try to put it - cannot have just one category & two sub-categories. Today I’m sure that the advances that are much more tangible are slowly putting a bigger picture together!

DEFINITION OF BEE'S FOREVER EVOLVING "CATEGORY"

Recessive Dystrophic EB - generalized, other (RDEB-GO, formerly RDEB-non HS) = A more common RDEB subtype, formerly known as non-Hallopeau-Siemens RDEB (and probably best referred to as generalized mitis RDEB), has similar but less severe cutaneous involvement and a much lower risk of esophageal strictures, corneal injury, or hand or foot deformities. Growth retardation and anemia are extremely uncommon. However, these patients still have a significant risk of developing squamous cell carcinomas (47.5% by age 65), although the risk of death from metastases (60% by age 65) is lower than that which is seen in severe generalized RDEB. (Inherited Epidermolysis Bullosa - Dr. Jo-David Fine)

Always "keep the faith"!

Bee & Zach - Aug 2012

Bee totally concentrated on her masterpiece!

These beautiful pictures were taken at the 2012 Debra PCC by Christie Zink - such a warm soul and talented woman!

Going Back in Time ~ Genetic Results, Commentaries & a Couple of Pictures!

Came across a 2008 email between myself and two other EB moms in which we were comparing notes on our children's genetic mutation screening results - never in my life did I imagine this "scientific jargon" would make any sense to us! Go figure!

TEST PERFORMED: Type VII collagen gene mutation screen


TEST DESCRIPTION: PCR products were generated spanning all 118 exons of the type VII collagen gene. The PCR products were subjected to heteroduplex analysis using denaturing high performance liquid chromatography (dHPLC, Transgenomic WAVE). Exons showing band shifts were sequenced and the sequenced was compared with a normal sequence and known polymorphisms.

RESULT: Two mutations were identified in the COL7A1 gene of Bianca C. The paternal mutation, designated Q2417X, is a cytosine to thymine transition in exon 94 resulting in a STOP (TAG) codon for a glutamine codon (CAG) at position 7249 of the type VII collagen mRNA. This mutation causes premature termination of the collagen VII peptide and results in a truncated and presumably nonfunctional gene product. 

The maternal mutation, designated R669X, is a cytosine to thymine transition in exon 15 resulting in a STOP (TAG) codon for an arginine codon (CAG) at position 2005 of the type VII collagen mRNA. This mutation causes premature termination of the collagen VII peptide and results in a truncated and presumably nonfunctional gene product.

Back in the day Debra's website had a forum and this was a piece from that thread that I posted about my conversation w/Dr. Ellen Pfendner who is now with GeneDX - this was posted in 2004 when Bianca was only 2 years old - WOW:

...obviously there IS a stop in the genetic makeup for both Robert and myself. In speaking to Dr. Pfendner she could be either mild or severe in the future, nothing stated about in between. Simply because she has seen the "STOP" factor go both ways, she knows of phenotyping cases that she studied personally where some of the cells find ways of clipping out the STOP codons and making a partially functional protein. When this happens the type could be much milder than expected. She says the odds could be Bianca could very well be HS, but that she wouldn't bet any money on it. She went on to mention that there are "other physiological factors which appear to play a role in determining how bad it will be". And lastly, she mentioned "I can't be sure if she will present as an HS EB or something milder".

Amazing how reading this today, almost 10 years later, I can reflect on how far we've come. Our mindset, regarding the results, of "that's just words on a paper and only God knows what's in store for us" is what has pushed us through those dark times. In my previous post I mentioned how Dr. Lane made a comment regarding how in a bad mutation a cell could fall off - well I say for us it falls off and then sticks back on...then rinse and repeat! Ha!

~ Bee at her 2 Years Old Birthday Party ~

~Bee 3 years old during Christmas ~

Debra PCC 2012 ~ Quotes & Paraphrases ~ Blog #2

Originally I was going to try and write a couple of blogs regarding all the information that was presented to us at the 2012 debra PCC. However, considering the time restraints I am usually under I figured we can leave it up to debra and their media relations team to roll out the videos (hopefully on YouTube) of the conference. However, below are some of the quotes and phrases I heard at the PCC that grabbed my attention and reminded me of the immense gratitude I have towards our special world. While EB it's the "worst disease you've never heard of" it has brought with it an amazing group of people (from those afflicted by EB to their caregivers to the medical professionals).

To repeat what I have already said the day after the PCC was over:
"DebRa/PCC #5 Takeaway ~ the research that was just a theory in Palo Alto, Nashville, Denver & Cincinnati is now underway, the treatment & QOL for our loved ones with EB is progressively being challanged by the medical/manufacturing/caregiver community w/positive results & the EXPLOSION & MOMENTUM of cutting edge research is now extremely tangible. While all of this feeds our physical state of mind the sideline conversations & camaraderie is what feeds my soul! Together they keep me STRONG for whatever tomorrow will bring for my precious daughter! Until the next one! Safe travels to all!" ~ Aug 2, 2012

~*~ NOTE: I believe I have my notes inverted but I believe quote/paraphrase #1 was Dr. Wright, Dr. Azizkhan or Dr. Lane. If you remember feel free to let me know! Either way it was one where I couldn't stop laughing! As for quote/paraphrase #4 Dr. Tolar showed a side that very little doctors/scientist show at their level of experience/education! YOU GO DR. T! ~*~


1. On wanting to find the best possible direction for treating patients with EB:

“Put me out of business…PLEASE!”

–Dr. J. Timothy Wright, DDS, MS Bawden Distinguished Professor & Chair, University of North Carolina


2. Answering a parent that spoke about their medical doctor back home requiring routine dilatations on their child:

“There is no such thing as a routine surgery.”

–Dr. Richard G. Azizkhan, MD, PhD Co-Director of the EB Center at Cincinnati Children’s Hospital


3. Recommendation from a clinical psychologist regarding our outlook on EB:

“Change how you feel about the situation.”

“Disease does not define person.”

“Don’t dwell on illness.”

-Dr. Mark P. Popenhagen, Psy.D Pediatric Psychologist Dreyer Medical Clinic


4. His approach on taking on the care of an EB patient and their family through his Stem Cell/Gene Therapies:

“I have to listen to the mother…the mother always know!”

-Dr. Jakub Tolar, MD, PhD University of Minnesota
U of M - EB Website

 
5. Comments about our skin that has somewhat eased my mind for now for my RDEB child:

“The outer 5% of skin is the most important. Below that is where the ‘AF’ (Anchoring Fibrils) are not holding together. Our cells divide and form (3) new mutations. One out of a billion makes a mistake. Advantage is that in the bad mutation the cell falls off.”

-Dr. Alfred T. Lane, MD, MA Professor of Dermatology & Pediatrics, Stanford UniversityStandford - EB Website


6. Dr. Lane’s comments regarding Gene Therapy:

“It’s not a cure it’s research.”

“Gene Therapy aims to correct defective gene. A Virus is used to carry the gene (Gene Transfer). It puts in and turns it on.”

-Dr. Alfred T. Lane, MD, MA Professor of Dermatology & Pediatrics, Stanford University


7. Dr. Lane’s comments regarding Gene Transfer:

“Skin Biopsy ~> Grow Cell  ~> Viral Transfer ~> Epidermal Sheet Production”

“Last up to 12 months ~> FDA Approval Expiration ~>Test after several weeks (12) or months (6) = Type VII collagen positive.”

-Dr. Alfred T. Lane, MD, MA Professor of Dermatology & Pediatrics, Stanford University


8. Brett’s opening remarks regarding debra:

“You’re going to see some big changes in the near future…lots of them!”

-Brett Kopelan, Executive Director debra of America


9. Elevator conversation between two kids w/EB (Bianca & Zach) while they stared at their images in the mirror:

“I did it again looking handsome & fresh.” ~ Zach

“Yup I’m one hot looking mama.” ~ Bianca

-Zach Johnson & Bianca Contreras, Future World Changers

Debra PCC 2012 ~ Integrative Therapies (Dr. Traci Stein) ~ Blog #1

DISCLAIMER – My daughter is diagnosed with RDEB – Recessive Dystrophic Epidermolysis Bullosa. She was extremely severe at birth but has improved over time. Some symptoms typical to RDEB are and will be present. The information listed below is what has worked for us and we will continue to back it up as long as it shows us a positive outcome. I only hope that this information will be helpful to others that suffer with a chronic condition like Epidermolysis Bullosa.
~*~Namaste~*~
So we're back from the PCC and I’m still trying to digest the information that was flung at us from every angle imaginable – conventional vs. unconventional, traditional vs. non-traditional and so on. The one item I am jumping at to cover for the moment is Dr. Traci Stein’s approach at pain management through hypnotherapy and meditation to help alleviate pain, itch and mood symptoms in patients with Epidermolysis Bullosa. I was pleasantly surprised and elated that this year debra took a risk in introducing such a controversial approach to pain management. So many of those affect by EB (Epidermolysis Bullosa) rely on pharmaceutical prescription drugs to ease the pain and rarely do we hear doctors, patients or their families speak about integrative therapies (i.e. guided meditations, Yoga, etc…). Also the mention of the practice of Yoga to ease the physical and mental pain was very welcoming. Let’s face it, at the parental level we know that our kids are cognitively all there; they are normal in every sense of the word when it comes to their mental state. Some even surpass our pre-conceived notions of maturity – my daughter is one where she will soon be 10 going on 30!


Dr. Stein spoke in regards to pain being a “mind-body” phenomenon. How the two (mind & body) are interconnected and very powerful on their own. Together they can exceed our general expectations of what we are capable of doing. Her integrative approach to pain and itch was broken down as follows:

1. Mindfulness

2. Hypnosis

3. Biofeedback

4. Aromatherapy

5. Cognitive Behavioral Therapy (CBT)/Acceptance

6. Yoga

These fields of exploration for the pain and itching will allow our children to have a “sense of control” over their chronic conditions. The exercise alone done by simple Yoga moves like Anusara (which means Flowing with Grace) integrates our body’s principle forms of alignment with the celebration of the heart and spirit. You can also look up Hatha yoga moves – between the two they are the gentlest form of Yoga practices available.


Dr. Traci Stein has a blog and Facebook page – so become a fan and follow her therapeutic advice! I know we have enjoyed having these types of non-conventional holistic approaches towards EB as part of our daily/weekly routines.

These are some typical poses that can be adapted to be EB-friendly - the sitting ones are probably our best bet. Savasana is - of course - my favorite pose!

Side Note

I am going to refer back to a post I did almost a year ago which includes links and information to a guided meditation Bianca enjoys. I highly recommend it and suggest it to be downloaded into an iPhone or Android for easy access. These have been instrumental during the school year to put her to bed quickly and have a very restful night – something that is needed for our children to heal, grow and thrive.


Bianca's New Found Love for Meditation

I also get lifted by a website called "Tiny Buddha" in which it provides amazing stories that connect to so many other facets in our lives. They also have a Facebook page. I figure if I can read something that feeds my soul then my mind and body will be balanced to deal with the daily struggles that EB brings us.




NASA - Kennedy Space Center - Aug 2012
Bianca has gained self confidence and flexibility just by practicing the
meditation and some simple Yoga poses on and off! :)