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

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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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