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! :)

Our First Mother ♥ Daughter Photography Session

In a world of digital cameras and picture sharing through social network uploads we have started loosing the tactile form of reliving our fond memories in an instance. Today many of us must be “connected” to reminisce what a great time we had in our trips, holidays and birthday parties. While it’s great to have these pictures posted online and share with our loved ones around the world I realized my home was stuck in a time warp picture display! With the exception of Bianca’s school pictures the last one we have on display is that of her sixth birthday party! She’s going to be ten so that’s about four years without putting one single framed picture of our trip to Ohio, Colorado or Tennessee. Her birthday last year at Build a Bear had some beautiful pictures of her friends having a blast and the holidays when we dress up have all been posted and forgotten in about a week time span! This is why I decided to start a new tradition – taking professional pictures every so often and start rebuilding our photo display at home. Photography has evolved from your traditional Muñoz Studio package (for those of you from Miami you know very well who that is…). Today professional, talented and very unique photographers take their art almost anywhere to create a personal, one-of-a-kind experience and pictures. From silly to tender poses these new wave of photographers catch our lifestyles! Not your lackluster family portrait where everyone is strategically arranged. The best way to take advantage of such a exclusive service is to sign up for a mini session.

I found Stuido by Carmen through a friend’s recommendation. I liked her page on Facebook and instantaneously Carmen posted about a Mother’s Day Mini Session. These sessions are usually a ½ hour long and depending on the package you will get a CD of 5 – 10 files for your personal use. I can order extra prints through Target, CVS, Costco or wherever a photo lab is located; beats having to pay $200 - $400 a package through our old school photographer. Bianca and I had such a wonderful time! She hammed it up for the camera and was dancing all over the place! She couldn’t get enough and here I thought she was going to be a bit shy performing in front of two perfect strangers! She danced, jumped, posed and rocked it! She’s now excited to go back and do it again. Hopefully Carmen will post about another mini session real soon and we can incorporate daddy into the pictures. The best part is that these pictures are going to make the grandma’s tear up a little! My mom will get the one where I am holding her gently with my eyes closed. While my mother in law will get the one where she’s being spunk and dancing around. Both of them will definitely be in for a surprise. Unfortunately, we couldn’t get the photo book in on time. But that’s fine because I’m sure the two pictures we are gifting them will make the impact we’re looking for – proud, happy and thankful for their beautiful granddaughter!

Happy Mother's Day to all the Supermoms and Honorary Dads out there!

As long as there is healing...

...there is hope! Amazing how the saying “this too shall pass” comes to mind when I see the positive progression of Bianca’s wounds healing in less than two weeks. The reaffirmation that leaving it in God’s hands and believing that His will be done once again made me a believer in miracles. I have always believed in miracles but there is nothing more humbling than experiencing one on your own once in a while.

Peace, love, understanding and compassion to all!