My take-away from the Debra’s PCC in Orlando – Part 8 (last)

A consensus Approach to Wound Care

This talk was given by Dr. Elena Pope and it was very interesting. I think what would have helped more-and perhaps this is something I will suggest for future conferences-if it came with a full blown Wound Care 101 with explanation and showing of the different products available. I know I am not only speaking about myself when I say that, even though Nicky is nearly 16 years old, since there are always new products out there which we are unsure how to use, a hands-on explanation with samples given to try would have been extremely helpful. Just me?

Anyhoo…the presentation started with an explanation of chronic wounds and how to care for them. How important Hemoglobin levels are to keep the healing ongoing, which is why iron supplements and infusions are so important.
Chronic Wounds are like a vicious cycle and once you get one it’s hard to get rid of it because it basically feeds on itself. Ugh. Another thing to keep into consideration is if the wound edge is even or rocky. Rocky might mean the big C, so she stressed the importance of having it biopsied. Ick. She stated that SCC (Squamous Cell Carcinoma), which is usually sun induced, with RDEB and the wounds constantly trying to heal, it starts in there, making it more aggressive as it would otherwise be. The absence of collagen VII makes it more aggressive than usual because it’s the collagen that fights the cancer to begin with.

The most important slide that you will ever see is this one on the right. Click on it to see it bigger and print it! That’s what I did. It goes on detail of what you should use on what type of wound. For example… what to put on just for protection or if it’s an itchy wound or an infected wound or a painful wound. I would have liked if it came with names of products in detail with choices, such as… Mepitel is better than Xeroform on this type of wound and that sort of thing, but overall I think it’s very helpful!!

Here is the video of this presentation, courtesy of Debra of America:

Cell Therapy for EB

This talk was given by Dr. Alfred Lane-this is the second talk that I was very excited to hear. Unlike the Protein Therapy, which would need to be infused into the patient every 4-6 weeks to keep the disorder at bay, this is a genetically modified skin graft which would permanently heal whatever area it’s put on. It involves Gene Transfer, which is inserting the correct gene into the DNA structure using a virus, and it starts working right away.
Only 5% of DNA makes protein, so the risk is minimal. It would involve a skin biopsy, growing cells in vitro, viral transfer to genetically cure the faulty gene and the making of skin to staple to the wound (skin graft). This would last the life of the individual. That area is CURED! No more blisters!

The biggest obstacle in doing this for years and years was to get FDA approval but that obstacle is now surmounted. Several years ago they tried this method on an Italian patient in Turin and it worked, he no longer blistered in that area.

I actually spoke to this patient on the phone once and told me the details and he was very excited!
They have been trying to get the trials started for a while now (a couple of years at least) but now Dr. Lane stated that they should be starting the first subject this year. FDA rules require patients to be at least 18 years old to give their full consent, but after they have 5 successful subjects trials, they can re-evaluate and the FDA will most likely approve patients between 7-17, the patient still has to understand and give their consent, that’s why he/she has to be older than 7.

Dr. Lane explained how this is truly a long term solution and they had never a single problem or side effect with the mice they worked with and there are no unnecessary risks to patients. Other skin disorder advocates and researchers are keeping a close eye on this particular research because if it’s a success, it will help hundreds of thousands of other patients suffering from not only other forms of EB but also one of the other 300 skin disorders out there.

When asked ‘when’ the trial will be over and this will become available to everyone, Dr. Lane had a hard time being specific. He wanted it to be done yesterday, a year ago, 5 years ago. If you would have asked him 10 years ago, he would have said a couple of years. It’s hard to say. It’s hard to predict when obstacle will come to delay the process.
I remember adding in my mind the 5 patients and how long each patient will be in the trial, so if everything went extremely well, maybe a couple of years? Who knows.

For more information about this study, please go to THIS LINK.
They are now recruiting patients for the trial, please contact Emily Gorell, to find out more about study enrollment and requirements.
She may be reached at (650) 721-7166 or egorell@stanford.edu.

Here is the video of this presentation, courtesy of Debra of America:

Management of Esophageal Strictures in EB Patients

This talk was given by Dr. Richard Azizkhan. An Esophageal Stricture is a scar or narrowing of the esophagus that can make swallowing solids or even liquids difficult. The scar involves the lining of the esophagus, not the muscle.
This slide shows the probability of it depending on the EB subtype. I must admit, I sighed when I saw this. By the time Nicky was 3, he had to have his first, and he was so bad I ended up needing to put a g-tube on him as well at the same time. According to this chart, only 10-15% of RDEB patients need this at this age. Wonderful. Ok, moving on…

The only technique used these days that works best in fixing this issue is the balloon dilatation. Dr. Castillo at Stanford proudly told me he was the one that came up with this procedure :0).  He stated it works well also because it can be repeated multiple times on the same patient without a problem, even dozens of times.

However, as with anything, there are caveats.

The patient cannot have very severe anemia for example. Dr. Azizkhan sadly stated how one of his patients almost died and had to be resuscitated and later went into a coma because they did not know how anemic he was before the procedure. Always make sure the patient is not severely anemic beforehand! Cincinnati now routinely does blood-work beforehand to make sure this never happens again.
I talked to the mom of this patient… to be honest, I cannot imagine. Not only this child (I believe he is maybe 5 years old?) has rather severe RDEB, he woke up from the coma not exactly like he was before. Because his brain went without oxygen for a time, he has a long road ahead. Neurologists say that because he’s still a child and his brain is still forming there is a lot of hope for him. Please pray for this precious child!!

These slides give a LOT of good info on how the procedure is done and what the outcome has been over the last 20 years of doing this procedure. Please click on the image to open a bigger version.

OK, part of this talk also included gastronomy tubes, or g-tubes for short and indications. The most important indication is growth failure. As I stated in a previous blog, not ‘just’ for weight issues, but growth failure indicates also failure in stature and head circumference. It’s also a safety net for those that require constant, multiple throat dilatations and also to address behavioral issues and family dynamics. It becomes a must for about 40-50% of RDEB patients and also many newborns with feeding issues of all other forms of EB.

The patient is initially given a temporary tube and several weeks later a permanent tube, most commonly a mic-key is put in place.  

Here is the video of this presentation, courtesy of Debra of America:

Below is a video from the 2010 conference about Dilatations and G-tubes.

Ocular Surface Rehabilitation in Dystrophic EB

This talk was given by Dr. Arturo Kantor, who had quite an array of interesting information. Before his talk the only issue with the eyes I ever heard of or experienced are corneal abrasions, which Nicky is, of course, not a stranger to. However, he related that some patient have SEVERE eye involvement, and those that do, usually have Dystrophic EB and also have esophageal involvement. Some patients with Junctional have these problems as well, but he stated this is not a problem that Simplex patients have at all.
His suggestions were to use Preservative Free Lubricants and Bandage Contact Lenses. CL do not prevent erosions, but new epithelium grows underneath and helps the eye.

The contact lenses he suggests are not available over the counter, and must be High DK over 120, highly permeable. He also suggests GenTeal Gel for eyes.

The doctor also showed some videos of a patient he had to replace the cornea of… highly graphic videos that I squirm just thinking about, so I will spare the one photo I took of because it reminds me of them, ha ha.

Here is the video of this presentation, courtesy of Debra of America:

Insurance Advocacy

Medicare Info

This talk was given by Michelle Graham was the FINAL presentation of the conference!! She started with an explanation of the various HMO, PPO, POS, EPO and also Medicare, Medicaid and CHIP.

A good website to look at, with detailed information about all the different programs that may be available in your state is: http://insurekidsnow.gov/

She also discussed how fully vested insurance plans are much better and offer a lot more coverage than self funded employer plans. She stated it’s important to make a list of things needed, such as bandages, doctors, medications before switching plans, review the list with your HR or broker and request a written letter to validate what was told to you. If the new plan is lacking what you need, ask for other plans or if exceptions can be made depending on diagnosis.

If a claim is denied, be pro-active. Call and write your insurance provider, write everything down, know your rights. Call your State Insurance Commissioner with problems.

Here is the video of this presentation, courtesy of Debra of America:

Here is the video from the 2010 Conference!!

Please Note: I tried to post as many videos from the 2010 Conference as they were appropriate in their respective sections. ALL the videos that are available to be watched can be found HERE: http://www.youtube.com/user/ebnursemarketing?feature=watch

The videos from the 2012 Conference are now available and I embedded the link in the respective sections. THANK YOU!!!

Links to — > Part 1Part 2 – Part 3 – Part 4 – Part 5 – Part 6 – Part 7

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

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My take-away from the Debra’s PCC in Orlando – Part 7

I want to thank everyone for their patience… tomorrow I will post my final blog  about the conference! This post is probably the most important and favorite post of mine as well, since it includes the information from the speakers that I was looking forward to hear the most to give Nicky HOPE. So… here goes…

A Family’s Guide to Coping with Chronic Illness: What Works and What Doesn’t

This talk was given by Dr. Mark P. Popenhagen and… my apologies. I took no notes, nor took photos of slides. I don’t know what happened! I think because it was the end of a LONG day of info, maybe my brain was on overload… maybe I know very well the effect my son’s condition had on the entire family and it was all old hat… not sure. However… Here is the video of this presentation, courtesy of Debra of America:

I found a VIDEO of the talk Dr. Popenhagen gave about this very subject at the conference in 2010. I was told a lot of the talks showed the same slideshows, so maybe this is one of them! Here it is below:

Protein Replacement Therapy for Dystrophic Epidermolysis Bullosa

This talk was given by Dr. Mei Chen… this was the speaker I had been waiting for, so I took a TON of photos of the slides and quite a bit of notes. Since my Nicky will most likely not opt for a Bone Marrow Transplant (too risky), Protein Therapy for us is the way to go and our best shot at a treatment that will enhance his life without risking it.
Protein Therapy is designed to work for patients with Dystrophic EB, for now at least, and they started working on it following models from other similar disorders who were treated in this manner.
Initially they were planning to deliver the patient’s own type VII collagen (after it was modified-i.e. cured) with intradermal injections, then they tried to do intravenous injections and it seemed like it worked better since it effected the entire body at one time.
They started testing this using animal models-the first animal model being mice they actually gave EB to, and then they proceeded in trying this in dogs.

There is a breed of dogs that actually gets DEB, and they did injections for a total of 9 weeks and both of these approaches (intradermal and intravenous) reversed the disease phenotype and survival dramatically increased. This method had no adverse effect on the dogs and the IV injections were done under anesthesia.

These slides (click to enlarge if you cannot read) show the advantages of doing it this way and a ton more information.
In animal models they would re-inject every 4-6 weeks (through IV) to keep the disorder at bay. Dr. Chen stated that they preferred the IV method because, as it treats external and internal damage, it also works in preventing future wounds.

The first clinical trial on humans is set in 2013 and is funded by the NIH,  they will try both the Intradermal and Intravenous types and they think it will become available to ALL DEB patients in 4-5 years.

Exciting? YES!!!

Here is the video of this presentation, courtesy of Debra of America:

Development of Systemic Protein Replacement Therapy for DEB

This talk was given by Dr. Mark de Souza, it’s basically a continuation from the above presentation, this one explains how Lotus Tissue Repair is involved in making Protein Replacement Possible for EB patients.

Their main concern once the company was up and running was to get regulatory approvals and secure financing.
Once all the research was done and they saw compelling evidence that the research reversed the condition they were now trying to to find a way to deliver the correct gene, as one of the slides explain, the benign virus that they needed to find to deliver the correct gene for EB was much larger than those for other conditions, so that presented a very big challenge.

A lot of this information was basically a repeat of what Dr. Chen stated in her presentation, but I think these slides were easier to read so they helped tremendously in cementing the concept.

Manufacturing and storing the modified collagen is something else he talked about, and he described in detail all that was involved in getting this accomplished.

What I found interesting is how easy this will be for my son to do. As it is, he already goes at least once a month to get his iron or blood infusions, so we can use the same appointment to infuse him with this instead, and eventually he will no longer need iron infusions at all because he will be all healed at some point and in much better shape. In a little over 2 years he will be 18, so I could possibly make him part of the trial, since USC is pretty close to our house. Hope is what I came for, and this is what I got. HOPE.

Nicky was not exactly ecstatic at this form of treatment, he hates getting poked (well, who doesn’t?) but I told him that MANY conditions are never exactly ‘cured’ but just “kept at bay”, so to speak.
Even my hypothyroid is not cured and will never be, I will always have to take a little pill every day for the rest of my life. Maybe at some point, instead of an infusion, it will be a little pill for Nicky to take as well, who knows? Here are a few other slides with interesting content… remember to click on them to see the bigger version so you can read it better.

If you haven’t done this yet, PLEASE Register! —>>> EB CARE REGISTRY

Here is the video of this presentation, courtesy of Debra of America:

Involvement of the Airway in Patients with EB

This talk was given by Dr. Ravindhra Elluru and she stated something I never heard about… how there can be airway issues with RDEB. This was news to me, I honestly thought Airway issues were a Junctional issue only, but she did state that with RDEB is very minor and only on the top, while with Junctional is much, much worse.
The only notes I wrote down were that irritation of vocal cords causes the hoarse voice and that they treat it with Reflux disease drugs.  

Here is the video of this presentation, courtesy of Debra of America:

I found a VIDEO of the talk Dr. Elluru gave about this very subject at the conference in 2010. I was told a lot of the talks showed the same slideshows, so maybe this is one of them! Here it is below:

GO TO PART 8 –>>

Links to — > Part 1Part 2 – Part 3 – Part 4 – Part 5 – Part 6

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

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My take-away from the Debra’s PCC in Orlando – Part 6

Here is more information about several talks from the conference from July 31, 2012:

Common Gastrointestinal Problems in Patients with EB & Nutritional Challenges in EB People with EB and Clinicians Working Together.

These two talks were done by Dr. Michael Farrell & Dr. Lynne Hubbard respectively. I have to be honest-both presentations were old hat to me and presented no new information, just strengthen my beliefs that I’ve been doing right by my son; however, in an effort to be thorough, here’s what they entail:

Depending on the form of EB, the esophagus can be very compromised or very little if none. Scarring within the esophagus can reduce the size of it, causing difficulty in the passage of food, even liquids. Many times children will experience episodes of food impaction with the expectoration of large amounts of mucous. Refusal to eat due to pain compromises the patient’s nutrition at a time where it’s most needed for wound healing. A Barium Swallow may be ordered by the gastroenterologist to assess the need for treatments such as esophageal dilatation. Dilatation is a procedure done under light sedation that incorporates the use of a small balloon to increase the size of the esophageal opening.

In instances where esophageal stricturing is so severe, dilatation may not be helpful, a gastrostomy tube or gastric button device may be indicated to increase the individual’s nutritional intake. A gastrostomy tube is inserted to an opening (stoma) into the stomach for the delivery of nutrients, fluids and medications. The procedure is usually done by a surgeon or a gastroenterology surgeon. In many instances feedings through the gastrostomy tube are given overnight using a pump. (Please note the head of the bed should be slightly elevated when infants/ children are receiving feedings.)

The use of gastrostomy tubes may be helpful in the nutritional management of infants and small children in EB who do not have esophageal involvement but need nutritional enhancement intake for growth purposes and wound healing.

If naso gastric tubes are used it is usually short term due to risks of esophageal erosions and infection.

Thank you to Debra for this explanation.

As per my son’s story, just to make this blog a bit more personal and coming from a mom’s prospective, which I know helps, I completely understand the reluctance of many EB parents to put the g-tube in. I was one of those moms, it seemed such a drastic measure, but soon the decision was made for me:
Nicky, at 9 months old, weighed in at 18lb, but at 3.5 years old, he only weighed 21lb. In nearly 3 years he had only gained 3lb despite my best efforts, so a gtube because a life-saver for him. My decision to have the g-tube placed, however, was NOT about his weight. As I was told by several doctors, calories go to wound healing first, then growth. As per growth, calories go to head circumference first, then height, THEN weight. You can have a perfectly healthy SKINNY child, as long as he’s growing normally in the head/height department. Nicky’s pediatrician followed Nicky closely… first his height curve started falling below the charts, then his head, which had been consistently in the 75th percentile, dropped to the 25th percentile within a few months. A gtube became a necessity, Nicky would wake up with his pillow drenched in saliva, would wake up in the middle of the night asking for his bottle because he simply could not drink enough during the day, and no matter how caloric I would make those bottles, he could never drink enough of them. It would also take him hours to finish one single bottle. I opted for a throat dilatation and a g-tube placement done at the same time. Dr. Castillo told me his throat was only 1mm and within 3 months he gained 10lb! His wounds started healing faster and faster and at one point, when he was 4, he was actually wound free!! First and only time in his life. Placing the g-tube was the best thing I ever did for him, even though it was an excruciating decision to make.

Here is the video of this presentation courtesy of Debra of America:

The presentation from Dr. Lynne Hubbard was mostly about the daily challenges of EB and the nutritional aspects of the condition. What she talked about a lot was about making sure the patient understands and agrees with the procedures if they are old enough, and make sure they have a feeling of control over their body and their condition, particularly involving g-tubes. Too often she’s seen patients who were not even asked if they needed a g-tube placed, they just woke up with it.

Here is the Video of this Presentation, courtesy of Debra of America:

Hanging out with the Brits… in my book, heaven!

I was lucky enough to have Dr. Lynne sitting at my table for dinner and I told her how right she was about giving CONTROL to the patient. It’s their body afterall.  At a young age I would give Nicky the needle to pop his own blisters, give him the freedom to take off his bandages, give him the decision of when he wanted throat dilatations done, hand surgeries, and when we change bandages I always ask him what he wants to change today and I’ve done this for over 10 years now and it has worked great. Lynne relayed to me stories of families she visited in England and how different parents can be very different with their children’s care. I must admit Lynne’s British accent was fabulous and we spent a lot of time talking. Next to me at dinner was another Brit, I was in heaven, we spoke for a while before I found out who he was Ben Merrett, the Chief Executive Officer of Debra UK! Very exciting. I congratulated him for spreading EB awareness so much, and he told me they have fierce families who constantly work to get the word out. For those that do not know, Princess Diana was a BIG supporter of Debra UK and I wondered if any other member of the royal family had stepped up since. To my delight, he told me the Countess of Essex has stepped up which is fabulous. But… who is the Countess of Essex? These noble titles escape me. He laughed. Sophie is the wife of Prince Edward, the youngest brother of Prince Charles. Awesome.

Here’s a photo of me (right) with my new British friend Lynne (left). Thank You Lynne for all the advice and the friendly talk!!

 Oral Health and Epidermolysis Bullosa

This presentation was very interesting, I took a few photos of these slides and several notes., it was given by Dr. Timothy Wright.

The presentation started with the details of oral health… as this slide shows, oral tissue screening, the importance of using fluoride, a lowjet pick, a toothbrush he recommends is from the Rotadent line, a toothpaste that includes flouride, and he recomended an oral rinse called Pro Dentx, although I could not find a link to give anyone of where to buy it, HOWEVER, here’s the link to a Colgate Professional Product he recommends, you will need a prescription for it though apparently. It’s called Colgate Prevident.
One thing he stressed is to find a dentist, which might take a while, and then please, please, please have regular checkups. It’s much easier to restore teeth and keep them before their complete destruction.

He also stated that dental implants ARE possible! He described a case of where a young woman with RDEB received dental implants, so there is hope.

This slide shows the ingredients of the famous ‘Magic Mouthwash’ which coats the mouth and helps with Stomatitis and other possible mouth infections. Ingredients include 100ml of Maalox, 25-50ml of Viscous Xylocaine & 25-50ml of Benadryl. Other Oral Ulcerations, as shown on this other slide below, such as Thrush, can be treated with Oral Nystatin, Ketocanazol or Chlorhexidine.

One word about finding a dentist: It took me years to find one. The first time I took Nicky to a regular dentist in Phoenix, they would have kept him for his whole life since I started taking him there when he was so young and we were all learning together, but once I moved, nobody would touch him. I even called the 1-800-Dentist and they could not help me! Finally I found a dentist right at the place where we went all the time, CHLA. I cannot praise them enough. They are gentle, thorough, amazing. To find a dentist in your area, your best resource is to talk to other parents/patients in your area, contact the Debra Nurse, having a dentist you can rely and trust is of outmost importance.

Here is the video of this presentation, courtesy of Debra of America:

GO TO PART 7 –>>

Links to — > Part 1Part 2 – Part 3 – Part 4 – Part 5

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

Facebook Twitter Google+ Flickr YouTube 

My take-away from the Debra’s PCC in Orlando – Part 5

Here is more information about several talks from the conference from July 31, 2012:

Anesthesia for your child with Epidermolysis Bullosa & Interdisciplinary EB care

These two talks, which I will bunch up together simply because I don’t remember a whole lot from them separately, were done by Dr. Eric Wittkugel & Dr. Anne Lucky, both from Cincinnati’s Children Hospital. The only two notes I wrote down were to, one, look up ‘Mepitac‘, which is a tape that can be used for EB patients (does it work for RDEB? They say it does, I am always a little weary of it, but I am willing to try it) and, two, the duration of anesthesia is not a problem, there is no risk in case a patient needs to be ‘under’ longer for multiple procedures.

Other than that, I will let the slides do the talking, hopefully they will help someone. Remember to click on the slides to view a bigger version…

All of these slides are from the Anesthesia presentation, I found THIS PDF document online from Stanford with more info about Anesthesia that relates to EB.

Here is the videos of these presentations courtesy of Debra:

Dr. Lucky’s presentation is available ONLINE at this link HERE! (you will need a Google account to view, but it’s FREE) Basically, Interdisciplinary EB care means having everyone that is an expert of EB, from the dermatologist to the GI, hand surgeons and more under one roof.

Following these two talks there was a Physical and Occupational panel Q&A.  One question that comes to mind was from a therapist asking if she could use coban with the finger wrapping between web spaces and them stating coban was just too harsh on RDEB skin (which I agree-when Coban touches Nicky’s skin it’s blister city, so I only use it on top of bandages). My two questions were if there were any oils they could recommend to soften scar tissue and what exercises they could recommend to improve bone density since Nicky can hardly walk. The first question about the oil, they did not have any recommendations, except for just massaging the hand, which is hard to do when it’s full of wounds. As per the bone density question, she stated that at least standing is important, so Nicky has been standing as much as he can since I told him, bless his heart! Another suggestion I got is to get a vibration platform, that it could be rented etc. By talking to other parents and doing a little web search , I found out that Coconut Oil, Vitamin E, and I am trying this Argan Oil, all soften scar tissue. I soak his hand in these oils before rewrapping them.

Here is the video of the presentation, courtesy of Debra of America:

Here is the presentation for OT & PT at the 2010 Conference:

Medical and Integrative Approaches to the Management of Pain and Itch in EB

This talk was probably one of the most important of the entire conference. It was given by Dr. John Saroyan & Dr. Traci Stein. I mostly took photos of the slides because they were SO IMPORTANT and I did not want to miss a beat.

This talked about the various drugs that can be used depending of what form of EB, drugs used to subside itching and the issues with constipation.
So, once again, I will let the slides do the talking. Remember to click on the slides to view a bigger version…

If anyone has any info I might have missed, please leave a comment below (in the Facebook comment section).  THANK YOU!

Update August 15th, 2012: I found more notes about this latest talk about Pain Management that I think are worth sharing. The Doctor spoke about different ways to reduce pain, such as trance inducing activities, relaxation techniques, pleasant scents… for more information she stated to contact her at her website: http://www.drtracistein.com/

Here is the video of the presentation, courtesy of Debra:

GO TO PART 6 –>>

Links to — > Part 1Part 2 – Part 3 – Part 4

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

Facebook Twitter Google+ Flickr YouTube 

My take-away from the Debra’s PCC in Orlando – Part 4

Good Morning everyone! Today I will continue with the talks from Dr. Jakub Tolar about PIP Stem Cells to optimize EB treatment and Dr. Anna Bruckner with Anemia. To see the slides in an enlarged version, simply click on the photo.

Personalized Induced Pluripotent Stem Cells for Optimizing EB Treatment

This talk was presented by Jakob Tolar from the University of Minnesota. Dr. Tolar WON the attention of all the moms in the room with his now famous statement that his FIRST rule is to LISTEN TO THE MOTHER! Yes, round of applause! If only we could clone his point of view.

Dr. Tolar works with Dr. Wagner with the Bone Marrow Transplants, and his latest area of study is Induced pluripotent stem cells. This is commonly abbreviated as iPS cells or iPSCs are a type of pluripotent stem cell artificially derived from a non-pluripotent cell – typically an adult somatic cell – by inducing a “forced” expression of specific genes. Clear as mud? I know, it’s really complicated stuff. One of the reasons of me doing this blog is so I have a reason to go research to understand it more, in turn hopefully help others understand as well.

Dr. Tolar started his talk with the ups and downs of BMTs, how their primary goal is quality of life, lessen the symptoms of the disorder, but how there are plenty of slings and arrows coming their way, such as GVHD, infections, long term complications… that’s where the iPS cells come into play which would improve the results dramatically. If the donor is the patient itself, there is no risk of GVHD, less rejection & immune suppression drugs can be used etcetera. This is basically a continuation of what Dr. Christiano talked about earlier in the day.

This slide I think pretty much explains what they do with these iPS cells: Click on the photo for a larger view! It’s worthed, I promise!
They start with a biopsy of the patient, then introduce “Transcription Factors” (protein required to initiate or regulate eukaryotic DNA transcription), these transcription factors in essence REPROGRAM the cell to its embryonic state. Weeks later they have embryonic-like cells in return. From these cells they can grow just about anything, including skin. Of course the dna for the skin has to be corrected, but from this they can produce bone marrow to give back to the patient. AMAZING!

If anyone has anymore info on this just leave a comment in the Facebook comment section below this post. THANK YOU!

Here is the video of this presentation, courtesy of Debra:

Medical Complications of EB worth knowing about: Anemia and Low Bone Mass

Dr Anna Bruckner did this talk, she has been one of Nicky’s EB doctors at one time (before she moved to Colorado) so I was looking forward to this because Anemia & Bone Mass are some of Nicky’s issues as well.
Immediately she stated that she did not have time to address both Anemia & Low Bone Mass so she only concentrated on Anemia. Boo. I promised myself to ‘catch her’ later and I never did.

Why do EB patients get Anemia? She stated there are no ‘real’ answers on why. The most common idea is that it’s Anemia of Inflammation, caused by bleeding from the blisters, skin & GI track.

One of the points she reiterated a few times which is really important is that anemia in EB patient is a slow process and some of the symptoms are so slow in coming it’s easy to dismiss them. “Slow Decline” is how she put it. After all, who wouldn’t be tired if they had all these wounds to deal with? Pale skin is probably a big sign, but it does not appear overnight, as none of the other symptoms do as well.

The only real solution to Anemia is transfusions/infusions and there are many kinds and many different ways of doing them. I am not sure if she mentioned this in her talk but Nicky’s hematologist, who did this exact talk at the Conference in Palo Alto, checks the blood levels first. Anemic patients many times lack a protein in their blood called ‘Ferritin‘ which absorbs iron. If this protein is lacking or low, he gives a blood transfusion first, then proceeds with the iron infusions.

In her talk Dr. Bruckner talked about treating anemia with EPO, which boosts the bone marrow to produce more red blood cells.
As per the low Bone Mass… since Dr. Bruckner did not say anything, I can explain a few things in regards of what was relayed to me by Nicky’s hematologist. He became concerned when another EB patient in his care broke a bone in his leg and how a nightmare it was to make it heal with all the wounds going on in the skin-casting was out of the question. So… Nicky has been doing x-rays to check his Bone Mass every year, and while, with supplements, we’ve been able to improve the ‘quality’ of the bone, his mass has consistently gotten lower, and the only way to strengthen the bone is to walk.  Trying to make Nicky walk more and more only succeeded in destroying his feet, and then… he could not walk anymore for 3 months. Sweet! He is still trying to walk independently around the house, but 9 times out of 10 he needs my help. This is why I was looking forward to the Doctor talking about this issue because we’re at a loss. The only saving grace right now is that Nicky hasn’t gone through puberty yet but he’s close (as his bone doctor told me) and when he does his bones will strenghten up on their own. Beside that, the only other solutions would be injections every day. Oh man… I want to avoid that with every fiber of my being.

If anyone has any info I might have missed, please leave a comment below (in the Facebook comment section).  THANK YOU!

Here is the video of this presentation, courtesy of Debra:

GO TO PART 5 –>>

Links to — > Part 1Part 2 – Part 3

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

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My take-away from the Debra’s PCC in Orlando – Part 3

Before continuing with the blogs about the PCC I wanted to address a question that was presented to me: since Debra has stated that they would post the videos of the conference on their website, why bother doing the blog?
Aside the fact that I would have rather been ‘thanked’ than made me wonder if I am wasting my time, we do not know if Debra will post these videos next week or next year. But even if it’s next week, I also believe that the more ways this information is available the better, and this is what this website is about, INFO. But that’s just my opinion, take it or leave it.

Ok, now, let’s continue. The talks that followed which I will talk about today were about Prenatal Diagnosis of EB and Surgical Management of EB.

Prenatal Diagnosis of Epidermolysis Bullosa

This talk was presented by Dr. Sharon Glick and not surprisingly, I unfortunately did not take any notes, nor took photos of the slides. My apologies. I guess I thought this talk did not apply to me because I am a little too old to be having more children, and I did not learn anything new as well. If there was something new, I wrote it down. HOWEVER, here’s some links to know more about it and my summary of what I know about this topic.

http://www.debra.org/abouteb#prenatal

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2230038/

Basically there is no test to find out if you’re a carrier of EB (for Recessive forms of EB) prior of your child being born with EB. I get this question ALL THE TIME so I want to make sure I reiterate this point. I was told by various doctors that it would be like looking for a needle in a haystack.  Of course for the Dominant forms of EB it’s evident since one of the parents has the condition. Of course there is always that spontaneous mutation which is not inherited, but, I digress.  Determining the type of EB in a particular family member can be achieved through studies of a skin biopsy taken from the affected family member. The skin sample is then sent to a laboratory to confirm the subtype and the DNA mutation(s). This process may take several months, so they always suggest to do this BEFORE trying to get pregnant again. When a pregnancy occurs, DNA taken from the fetus can be studied for the presence of these mutations through CVS or amniocentesis. Preimplantation Genetic Diagnosis (PGD) is done prior to pregnancy, and improves the chances of having an EB free child. PGD is accomplished with in-vitro fertilization.
I wish I knew where to send parents for this PGD, I know of one clinic in New Jersey that does it (New Jersey Fertility Center) but not sure of others. I would suggest to contact the Debra Nurse, she is a wealth of information!  If you know of a clinic that helps EB parents with PGD, please leave a comment below. THANK YOU!

Now… here’s a little about MY particular situation, maybe someone can relate or this info can perhaps help. When Nicky was 9 months old (in the summer of 1997) Stanford took blood samples from him, myself and his dad to find out the genetic mutation. All of that came back inconclusive, Dr. McGuire wrote me a handwritten letter (which I still have, I can’t believe he actually hand wrote a letter just to me!) apologizing and said to try to re-do the test at a later date when technology improved. I was never aware technology improved until THIS PCC. That’s how out of it I have been! I was sitting next to Geri, the Debra Nurse, and she told me to do it now. Of course I would not be doing it for future children of mine but I am curious to find out if my Connor is a carrier or my niece Paola is a carrier. I have other nieces/nephews as well and if I can avoid another RDEB family member and all the pain and suffering associated with it, I will gladly do it. The problem is that I do not know if the insurance will pay for it this time, but maybe they will since the first time it didn’t work? I will certainly try to get a referral.

GeneDx (www.genedx.com) is currently performing genetic analysis for the most common known mutations of many of the forms of EB but it’s pricey, as I am told (around $6,000) and it’s hard to get the insurances to pay for it. Stanford is also doing a Characteristic Study for those that could travel there, and it’s free.

If anyone has anymore important info about this subject, please leave a comment below. THANK YOU!

Here is the video of this presentation, courtesy of Debra:

DNA Q&A Video:

Surgical Management of Epidermolysis Bullosa

Dr. Peter J. Stern did this talk about Hand surgeries for patients with RDEB. A lot of the slides were VERY graphic so I did not take photos of those-they were just hard to watch, even for me who has seen it with my own two eyes. Sigh.
First he went through the terminology, which includes words such as “non-pliable skin”, “pseudosyndactyly”, “thumb adduction”, “digital flexion contractures”, “acral osteolysys”, this last one meaning the dissolution of bone/nails.

He states, like the slide explains, that his Primary Goal with hand surgeries, depending on the level of deformity, is to make sure the patient can pinch and grasp things. Being able to pick up a pen and write for example, is a big issue. His secondary goals include releasing pseudosyndactyly to get the fingers in a more straight or at least curved mode rather than a fist so they may have some use of it.

He stated that he uses skin grafts for his hand surgeries, taken from another part of the body, and talked about the importance of pain medication and wound dressing/splints etcetera, making sure the wrist can rest in a neutral mode.

Now, here’s my 2c for whatever they are worth and what has worked for my son and my observations… this may or may not be what works for other RDEB patients, but it is what has worked for Nicky:

The first thing I wished I had known when Nicky was little was that the hand was not only going to web/mitten from wounds healing wrong, but ALSO from the thick scaly skin that eventually would become so tough that it would close the hand in a cocoon. This is why, in my view, Nicky’s hands mitten so fast without bandaging, the thick scaly skin does not grow and gets tougher by the day.
The bandaging instructions-complete with videos- are linked below, but I do something more to prevent the skin to get tougher which for my son is KEY: I wrap each finger with Vaseline Gauze, which lately I coat with various oils that soften the skin even more, such as Coconut Oil, Vitamin E, and I am now trying this Argan Oil, all soften the skin even more. I also SOAK his hand in these oils before rewrapping them. My goal for Nicky is to make these hand surgeries as RARE as possible by preventing the skin to get that bad to begin with. My post with post-surgery pics from earlier this year is here. Note that I was able to prevent a repeat surgery on that hand for 12 years while keeping the mobility of the hand this way, and Nicky would not have it any other way.

Dr. Ladd from Stanford, which is Nicky’s hand surgeon, does not uses skin grafts, but does uses the pins like Dr. Stern showed, and a cast. She cast the hand in a splint, well bandaged, and takes it off 2 weeks later. We were very happy with the results, but knew first-hand that it would take at least 6-8 weeks for the hand to completely heal  and that we had to make sure to wrap it with the appropriate tension to keep the improvements achieved by the surgery. 8 weeks later we started the weekly physical therapy and Nicky uses a nightly splint to keep the thumb out and the palm open. He is so happy with the surgery that he now wants to do the other hand, which was operated on 10 years ago.  The only problem with that hand is that the pinky has now ‘disappeared’ in the hand and the thumb is almost unusable due to the webbing. The other 3 fingers though are GREAT! All thanks to the wrapping, no doubt. Now with the addition of the oils and splints I know I can make a big difference and keep the hands from webbing even longer.

Here is the video of this presentation, courtesy of Debra:

Here’s the presentation about hand surgeries done at the 2010 Conference:

GO TO PART 4 NOW –>>

Links to — > Part 1Part 2

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

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My take-away from the Debra’s PCC in Orlando – Part 2

Day 2 at the PCC was the most intense one, 15 speakers in all! Here’s what the first 2 speakers of the day had to say:

What are the odds?

Dr Amy Paller conducted this talk about genetics and EB. This talk to me was old news, blah blah, ha ha. I am certain that new parents appreciated the info though. I only took photos of a couple of slides, but I found this graphic online which perfectly explains the genetics behind EB she explained.
Basically, depending on the form, EB can be inherited either recessively or dominantly.

Recessive forms of EB include any form of Junctional and Recessive Dystrophic.

Dominant forms of EB include all forms of Simplex, plus Dominant Dystrophic.

In Recessive Inheritance, both parents carry a normal gene (N), and a faulty, recessive, gene (n). The parents, although carriers, are unaffected by the faulty gene. Their offsprings are either affected (25% chance), not affected  (25% chance), or carriers (50% chance). Each new pregnancy is a roll of the dice.

In Dominant Inheritance, one parent has a single, faulty dominant gene (D), which overpowers its normal counterpart (d), affecting that parent. When the affected parent mates with an unaffected and non-carrier mate (dd), the offsprings are either affected (50% chance) or not affected (50% chance), but they are not carriers. Once again, each new pregnancy is a roll of the dice.

Of course, things are not always so simplistic. Dominant conditions can be ‘flukes’ at conception, also called new “spontaneous” mutations, meaning they are not inherited. The parents can have other children without risking giving their newborn EB again because the DNA mistake occurred sometime “after” the egg and sperm got together and not before.
On this slide, Dr. Paller was showing how a patient with Dominant Dystrophic EB had a child with a carrier of Recessive Dystrophic and their child was born with RDEB.

Confused yet?

Here is the video of this presentation, courtesy of Debra:

Here is the presentation about this subject from the 2010 Conference:

Update on Genetics and Stem Cell Therapies

I am a big fan of Angela Christiano, so I was eagerly awaiting her talk, which proved to be extremely interesting. Dr. Christiano talked about 3 specific things that pretty much blew me away. I hope I can explain them as clearly as I can in laymen’s terms!

1. Everyone knows of the risks of the Bone Marrow (Stem Cell) Transplants… but wouldn’t they be MUCH safer if the donor was the patient itself? What they are working on right now is harvest the patient’s own skin cells, modify them (correct the faulty gene-here’s the slide with how they do it… clear as mud, no?) and then grow the bone marrow of it to use for the transplant. While this patient might still need a low dose of chemotherapy before the transplant to allow for it to take, the amount of immune suppressant drugs needed would be GREATLY reduced. She stressed this is MANY years away, but oh, SO EXCITING!

2. They are working on a cream to use for Simplex patients… it’s called ‘RNA Interference Treatment‘. They are using the work done for another skin disorder effected by the Keratin called “Pachyonychia congenita“. In laymen’s terms, this cream would switch OFF the faulty gene. Debra UK is doing a project right now, details of that are HERE.

3. As if the above is not exciting enough, she also spoke about her Mosaic Study.  Evidently there are some EB patients that have ‘patches’ of skin that do not blister and have never blistered, and when biopsied they found that they do make the protein lacking elsewhere on their body. I found this article online from the Netherlands and they called it ‘Revertant Mosaicism‘. I am unclear how they could use this information to help EB patients. I am SURE Dr. Christiano said it, I just can’t remember. The article linked above talked about screening these regions for genetic reversion and revertant-cell therapy with the use of the patient’s own naturally corrected cells for autotransplantation. If anyone has anymore info, PLEASE leave a comment below!

One last thing that Dr. Christiano mentioned is to please contact her if you are or know an EB patient that has “normal” patches of skin for her study.

Here is the video of this presentation, courtesy of Debra:

GO TO PART 3 —>>>

Part 1 is HERE.

Update 8/7/2012

Emily Gorell from Stanford relayed to me that  if you have questions about revertant mosaicism, they are actually working on that also and she is happy to talk to people about it, along with their studies in gene transfer, and induced pluripotent stem cells. More info on their website: http://dermatology.stanford.edu/gsdc/eb_clinic/trials/index.html

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

Facebook Twitter Google+ Flickr YouTube 

My take-away from the Debra’s PCC in Orlando – Part 1

I promised a few friends who could not make the conference, that I would take ‘good notes’ about products, talks and progress in the treatments for EBers from this event, so I will try to be as descriptive as I can, noting that a lot of the lingo is way beyond my level of comprehension, ha ha.

The last conference I attended was the one in Palo Alto in 2004. I don’t know if it was because Connor was little and so needy (I missed a few of the talks) or because the talk I was fervently awaiting for turned out to be so disappointing… the only research for treatment for EB at the time was not moving forward… it took 8 years for me to attend another conference again. Granted, I was broke and the conferences where nowhere near California, but I felt as if I did not know what else I could possibly learn that I did not already know. It’s not that I felt I was a know-it-all, but as a mom, I pride myself in keeping informed. It wasn’t until about 18 months ago, when I received the DVDs from National Rehab about the talks at the conference in Cincinnati that I felt as though I was missing out on crucial info that was simply not available anymore from my various sources. There was a ton of research going on I had no idea of, and there were products which helped EB patients immensely I never knew existed, and the only venue to get this information full front was GOING to the next conference. A big THANK YOU to Nicky’s dad who paid for the trip, without his support I would have never made it.

So… here goes. The first day was basically the registration, welcome, and then a couple of talks. I spent my morning with Laurie Sterner and her husband from the Butterfly Fund (very special people to say the absolute least) and met with Christie Zink (who is taking over the Wound Care Bill from me because she has more connections etc, bless her heart!), Patrice Williams (Jonah’s mom, we both sadly had babies that were stillborn before having our EB babies) and mingled with various others. At the registration little Zacky Johnson came over to me and told me he saw an EB kid that looked ‘just like Nicky’! I asked him to take me to him and to my amazement… there he was, little Stephen, fan and all. Same smile too! Amazing. There were so many moms there that I had not seen in at least 8 years, some I had never met, it was truly wonderful.

Ok, bla bla, let’s get to the talks.

Brett Kopelan, Debra’s executive director, started off the conference with the welcoming statements. He stated that the Debra website would get a big new revamp and that the presentation videos from the conference would be available when the new website gets launched. He also announced if anyone wanted to talk about their experience with EB they would have the ‘Debra Diaries’ room.

Here’s the Video of it, courtesy of Debra

CAMPS
The talk about the Camps explained the rules and regulations of the various camps. There are two summer camps and two winter camps. It was given by  Kaycie Artus and Danielle Malchano from National Rehab.

Summer Camps: Camp Discovery and Camp Wonder.
Camp Discovery is run by the American Academy of Dermatology, it has 6 camps around the US: Camp Reflection in Washington (ages 8-16), Camp Dermadillo in Texas (ages 9-15), Camp Liberty in Connecticut (ages 8-16), Camp Horizon in Pennsylvania (ages8-13) and 2 in Minnesota, Camp Little Pine (ages 10-14) and Camp Big Trout (Ages 14-16). Ages vary by the camp, but it’s no younger than 8 and no older than 16 overall. It’s FREE for campers, including airfare, BUT Parents do not accompany campers. A full medical staff well knowledged about EB performs the dressing changes.
Camp Wonder is run by the Children Skin Disease Foundation, it’s in Livermore, California, and the ages are 7-16. It’s FREE for campers, including airfare, and parents may accompany campers and do dressing changes.

Winter Camps: Camp Spirit and EB Survivor Camp.
Camp Spirit is run by Children Hospital Colorado and it’s in Winter Park, Colorado. The ages are 8-18 and for RDEB only.   It’s FREE for campers, including airfare, BUT Parents do not accompany campers. A full medical staff well knowledged about EB performs the dressing changes.
EB Survivor Camp is run by USeb (United Survivor with Epidermolysis Bullosa)  , it’s in Park City, Utah. ALL ages are accepted! Covered costs include lodging, food and ski lessons, assistance is available for airfare. Caregivers MUST attend with campers, there is NO Medical Staff.

In my notes I wrote that Camp Spirit will meet campers at the gate at the Denver airport and they do skiing, dogsled, snowmobile and campers go back home stating it was a ‘life changing experience’.

Here is the video of this presentation, courtesy of Debra of America:

Stem Cell Transplantation for severe EB

Dr. Wagner from the University of Minnesota went through the Transplants on EB patient he has been doing, explaining in detail the three phases of the transplants they’ve done. Phase 1 was Bone Marrow only, Phase 2 was with Marrow + Mesenchial cells, and phase 3 was with reduced intensity, less Busolfan medication, plus radiation instead. He had many slides which showed the improvements and the lack of them depending on the phases and that they have a long ways to go. He chocked up at one point describing his feelings and stated quite clearly how difficult it all is and quoted  a famous quote that states ‘Difficult things you can do every day, impossible things may take a little longer’. The problem with EB is that patients come in very sick already, some with Sepsis and he stressed how he would only suggest trying this with very severe forms of EB due to the risk.
I did not take photos of his slides, save for one, nor took any further notes. Transplants for Nicky would be too risky the way they are done now. Dr. Wagner told me himself it’s going to take many years to perfect it and make it safer. I applaud his dedication to our cause.

The reception followed Dr. Wagner where everyone mingled. I was so happy to see everyone!

Here is the video of Dr. Wagner’s presentation, courtesy of Debra of America:

GO TO PART 2 —>>>

Mom to 3 boys, 1 in heaven, 2 on earth. My first son Alex (whose demise is most likely EB related) was stillborn at full term. After a miscarriage, I had my second son Nicky, who has the Recessive Dystrophic form of Epidermolysis Bullosa. My youngest son, Connor, is 100% healthy, and I never, ever take it for granted. I am an author, photographer, graphic artist, webmaster, blogger and more.

Facebook Twitter Google+ Flickr YouTube