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

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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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