Eddie Vedder publicly advocates for EB research!

Several famous people are have been and are becoming proponents and public advocates for EB research. The most recent is Eddie Vedder of Pearl Jam. This is so amazing. Awareness means money means research means a cure. Check it out!

And this video and a short article were on Rolling Stone today too HERE.

What is so exciting about Dr. Tolar's work is that it could not only be the answer for EB sufferers but for sufferers of thousands of genetic diseases. How quickly could we get to five million if we just got the word out and everybody gave a little? I'm so thankful that Jonah was born at such an active and amazing time in terms of EB research. I truly believe I will see a cure in his lifetime. And I'm praying it's much sooner rather than later.

hopeful

Today we heard of an amazing breakthrough that gets us one step closer to a cure for EB. I hesitate to use the term "cure," as that word just seems too good to ever be true. Not that I'm trying to be negative, but it just seems all the treatments and options up to this point have had too many side effects or risks for Jonah, considering how "stable" he is at this point.

But still, THIS IS BIG. To read the article, click HERE.

In a (hugely over-simplified) nutshell, Dr. Tolar has taken Charlie's own malfunctioning cells and basically taught them to repair themselves. His cells, still in a lab, are now creating Collagen VII, when before they didn't. Essentially, Charlie can receive back his own corrected cells, eliminating the need for chemo and the risk of rejection, two of the biggest things that make the current bone marrow transplants so so risky. Charlie has RDEB, a different type than Jonah, but if this works, I'm certain they will expand it to Junctional kids and other types of EB. 

We are praying that this will be our cure. Will you pray with me? 

Photos of my sweet Jonah taken at bath time tonight. (And he is one of the "good" ones.)

In the morning, LORD, you hear my voice; in the morning I lay my requests before you and wait in expectation.  
- Psalm 5:3

sweet baby elle

I've been meaning to get this up all weekend. I wanted to let you guys know that the EB Community has suffered another huge loss. Sweet Baby Elle went to be with Jesus this past Thursday evening. She was an 11 month old with Junctional-Herlitz EB who was undergoing the Bone Marrow Transplant. She passed away at Day +43. Please visit her blog HERE to read her story and offer her parents messages of love and hope. And please donate and raise awareness as you are called and able. We are so desperate for a cure. 

a whole lotta random stuff

Crazy after-nap hair from yesterday.

"Excuse me, Mom. I need to make a call."

"DADDY! Guess what? I have cuh-RAZY hair!"

(I don't place him in front of this door for the light, by the way. This is seriously his favorite spot in the house, and he crawls there and spends 20 minutes at a time playing and looking out the glass door. But the lighting is really good too... an extra perk!)

Jonah stood up on his own for the first time today. He's stood up by pushing up on something low (namely us when we're lying on the floor next to him), but today he pulled up to something higher. He's still not really using his hands to do it, but hey, it's a start. BIG BOY.

He was very happy about it, as you can clearly see.

And then he needed to take a rest and chill on his wobble penguin. All that standing up was hard work.

And I just thought this one was cute.

Speaking of cute, Courtney posted some ADORABLE videos of Tripp today. You can see them here, but I'm going to share this one, because you will be a better person for having seen it. Warning: your heart may just explode from the cuteness.

And something completely random - I love this blog. Katherine linked to it on her blog earlier in the week. It's a lady who dresses up her baby and creates scenes around her while she sleeps and then photographs her "day dreams." I know that sounds a little strange, but it really is amazing. Here's one of my favorites.

Oh my word. You should definitely stop by. There are tons of other cute ones.

And in the news today -

A USA Today article on the BMT transplants HERE.

A Star Tribune (Minneapolis) article HERE.
A Bloomberg Businessweek article HERE.

A write-up on the U of M site HERE with a great update on four of the patients HERE.

And a publication of the results HERE, in the New England Journal of Medicine.

(Thanks to those of you who sent them to me.)

Hopefully all of this being publicized will get more interest and funding. It's an exciting, yet terrifying, time for the EB community. Thank God for doctors and researchers who care enough to look for cures for the most rare diseases. Our kids need help too.

praying...

(Unrelated) Addition: The National Geographic Channel (276 on DirecTV) will be airing Extraordinary Humans: Skin this afternoon at 4:00 EST. Half of the episode is on a child with EB and half is on a child with Icthyosis, another rare genetic skin disorder. We actually have a friend, here in town, who has Icthyosis that we met after Jonah was born. Please watch or DVR if you can. Sorry for the late notice.

If you don't know much about the Bone Marrow Transplants being done as a (hopefully someday soon) cure for Epidermolysis Bullosa, please see Bella's dad's most recent post here.

It is amazingly clear, easy to understand and walks you through the basics of the process (as well as the risks). But he also does a great job of expressing the emotion that goes along with this journey they're on and how faith will see them through.



Daylon (the first JEB child to go through transplant) will undergo his transplant on Thursday of this week. He's already been undergoing Chemo for eight days (I think), so you can imagine the tough time he's having right now. He gets a one day "break" (tomorrow) and transplant will be on Thursday.


Bella is being admitted to the hospital today, and will begin treatments immediately. She will begin anti-seizure meds (to counteract one of the chemo drugs) immediately and chemo will start tomorrow. Her transplant is scheduled for July 2nd.

I know I've already asked for prayers for these kids, but I want you to really understand what they're about to go through and the toll it will take on them and their families. I want them to know they are not alone... so please, I'm begging you, follow their stories (here and here) and keep lifting them up. This is a very long road they are about to travel. Assuming best case scenario, the kids' immune systems won't be back to normal for a year. And the stay in Minnesota will be four to six months at best.

I know we've never met, but I love you guys.

Praying for healing, strength, and peace...

bmt updates

I'd like to give an update on the EB kids (that I know of) who have had (or are about to have) bone marrow transplants at the University of Minnesota. This transplant seems to be our closest hope for a cure, although it's in the VERY trial stages right now and still extremely risky with inconsistent results.

I'm not trying to be negative. I think what Dr. Wagner and his team are doing is AMAZING, and I'm so thankful that there is someone out there fighting for these kids. We need someone who is dedicated to finding a cure, and Dr. Wagner, from what I read, is beyond amazing. And the families who are stepping out on faith and going through this nightmare in hope of a dream are so brave. I have nothing but respect and admiration for them, and I know we owe it to them and their kids when there is a cure for EB. Jonah has hope because of these kids. Please pray for them and for Dr. Wagner and all the doctors and nurses who are working to cure EB.

Keric - Keric is 17+ months post-transplant and doing well. His blood is 100% donor engrafted and his skin is 16% donor engrafted. His skin is getting stronger and heals faster. They are doing lighter dressings and sometimes eliminating them all together. Keric had an exact sibling match for transplant and is having positive results. You can check out his page here. (I do want to make a note that his mother said, in March, that DebRA of America has not contributed to Dr. Wagner's research. I emailed the folks at DebRA to ask about his, and they said that they give funding to DebRA International who has a panel or advisory board (with doctors and specialists from all over the world, including some Americans) that evaluates all the clinical trials and determines where to give the money. DebRA International HAS contributed to Dr. Wagner's clinical trial, so DebRA of America has contributed in that way... if that makes any sense at all. Nevermind.)

Hannah - Hannah is 14 months post-transplant and is also doing well. She also had an exact sibling match. Hannah's skin is getting stronger, she heals faster, she has no more anemia, and her parents report that she has an energy she has never had before. You can visit her page here.

Sam - Sweet, sweet Sam. Sam has been through so much. She is the oldest of the EB patients that have gone through transplant, and she has had a very rough road. She also had an exact sibling donor. Sam is 290 days post-transplant and is back in the hospital... again. Sam has battled infection after infection and is now battling Graft Versus Host Disease. Her mom says her skin is worse than ever and that she thinks GVHD is worse than EB. That's saying something. She just spent the entire week at home on two IV antibiotics and only got worse, so they are now back in the hospital. Unfortunately, Sam has not seen any consistent betterment of her skin. She (and her awesome mom!) could really use your prayers. You can visit her page here.

Rafi - Rafi is 115 days post-transplant and is doing well, overall. She did NOT have a sibling donor. Rafi seems like a super-amazing kid with an amazing spirit. The stories her dad tells about her little sassy self always keep me smiling, and she is so strong (like all of these EB kids!). Her dad shared some very exciting news. Her most recent biopsy results are possibly showing some evidence of "anchoring fibril." Like all EB kids, she is missing the anchoring fibrils that hold her layers of skin together. This could mean that she is producing Collagen VII (the protein she's missing) and would be AWESOME news! They are seeing general skin improvement and her former "problem areas" are looking so much better now. When she does blister, she's healing much faster. You can visit her page here.

McKenzie - McKenzie underwent transplant twice, but neither one of them took. She has been through hell TWICE, and has now gone home with no results. She is so happy to be back home with her family and her best friend (dog, Shiloh). She will be eligible for transplant again if she decides she wants to. It's a long, hard road, and I can't imagine enduring anything like that. She is SO strong at the ripe old age of NINE. Please be in prayer for McKenzie. Kids are so resilient, but she has been through so much. You can visit her page here.

EJ - EJ is 46 days post-transplant and still in the thick of it. His counts look good, but he's also been battling some GVHD. I have only found out about EJ recently and haven't had time to catch up on his whole story. I know they are still at the Ronald McDonald House, and EJ is missing McKenzie. They had become good buds. You can visit EJ's page here.

Daylon - Daylon will be the first Junctional EB child to undergo transplant. The other patients so far have had RDEB (Recessive Dystrophic). He has Junctional Herlitz, which is the most severe type of Junctional. Children with JEB-H usually do not survive to their second birthday. Daylon had his Hickman line placed today and is all checked in at the hospital. He starts chemo tomorrow, and things will officially be underway. If all goes as planned he will have his transplant on June 24th. Daylon has an exact sibling match and will turn one in July. You can follow his story here.

Bella - Sweet Bella has just celebrated her first birthday on May 27th and began all of her preliminary tests today. She has an exact sibling match. Her family is residing in Minnesota now and will be there for months to come. This is a quote from her dad from Sunday night, "Tomorrow begins Day 1 in the clinic. Labs, consultations, tests, etc. from 9-3. We'll share much more tomorrow night. We go in your hands, in God's hands, and in each other's hands. I've never felt more proud to be the husband to my wife and the father to my children than tonight. Why? We are ready. We are as ready as we can be for this, whatever it may bring. We are ready, and we are not alone. What else could we ask for? Life is Good. God is Good. Amen, and Amen." AMEN. You can follow Bella's journey here.

Thank you for indulging me. I know it was long (or maybe it was just long on my end). I know this may just seem like a bunch of facts and figures and a lot of blogs and pages to visit, but believe me when I say that it is worth it. I feel so helpless when it comes to DOING much of anything for anybody. I was telling my mother-in-law that I've been completely self-absorbed for the last 16 months. I'm not faulting myself for it. Circumstances called for self-focus. But I do want and wish to do more... for EB kids, for orphans, for the homeless. I want to stop talking and DO. Right now, it's all an abstract general thought, but I hope to start DOING very soon.

So for tonight, I'm putting faces to this horrible disease. I'm sharing these beautiful kids' bravery and courage with you. I'm asking you to pray for, love, and support them. Please, please, go and KNOW these kids. Don't be complacent. It's real. Jonah's not the only one. And I'll tell you, the more I read and know, the more I realize that he's one of the lucky ones. It could be so much worse.

(And speaking of awareness, Zack's mom has let the EB Community know that the public service announcement that Zack is in (in which Jonah's photo also makes an appearance) will air on the Discovery Health channels from 6 pm - 9 pm during the month of June, I believe. Let me know if you see it.)

Even when this post is buried months back, you can still follow these kids (and other EB Sweeties) on the right-hand side of my blog. Thanks, as always, for all of your prayers, concern, and desire to DO. We are not alone.

meet daylon

Hi friends,

Jonah ate 23 ounces today. Most of it was a fight. He also ate at least a half a cup of Cream of Chicken Soup. He really loves that stuff. It's funny (and wonderful)!

We've had kind of a low key day. Matt's parents came up last night, and his dad helped us in the yard today while Granny had Jonah duty. I mowed the whole lawn by myself. Gerry offered to help, but I NEEDED to do it myself. It was a beautiful day, I rarely ever get to be outside, I desperately needed the exercise, and it felt great to do a project start to finish. The boys trimmed the bushes, did the weed eating, and put down pine straw. The yard is looking much better but...

I have big plans for when Matt's dad comes back the first weekend of May. I don't know if it will actually happen, but I'm wanting to do a small vegetable garden in the backyard, and do an accent fence with flower beds in the front. I am NOT a green thumb (I don't have a green thumb?... See? I don't even know what the correct phrase is). This should be interesting.
_____________________________

So I found out about another baby with JEB today. He is nine months old, and his name is Daylon. He lives in California. He has Herlitz which means his prognosis is not good. He will be the first Junctional baby to have the Bone Marrow Transplant at U of M. His three year old brother is an identical match. Up to now (I think Rafi is patient #8 and McKenzie is #9) they have all been RDEB. His family is trying to raise money for the transplant (the closest possibility to a cure there is at this point). You can read about him and donate here, and you can become a Fan of his Facebook page here. Please help if you can. I know we all feel so helpless when it comes to these kids' suffering, but you could help save his life. That's pretty big. And if you live in the Corona area, there will be a Walkathon and Carnival on May 1st to raise money for his medical bills.

possible $15 million for EB research - please help

I got this email from DebRA today. If you have a moment to email or call your Senators or Representative, please do so. It could get $15 million for EB research.

Dear Debra Friend/Family:

Debra urges you to act now! A Member of Congress has asked us to pass on this very important message to you. We only have three days to act and cannot delay. On behalf of all people living with EB please call, email, or fax your local Senators and Representatives asking them to sign on to the EB appropriations requesting $15 million in funding for EB Research.

For contact information for your local Senators and Representative(s), please visit: http://www.congress.org/congressorg/directory/congdir.tt

You can also email or fax the following message to your Senators and Representatives:
On behalf of all people living with Epidermolysis Bullosa (EB), every military burn casualty, and the thousands of veterans suffering from diabetic ulcers, we respectfully request that you provide funding of $15 million for EB research within the Congressionally Directed Medical Research Programs (CDMRP) in the fiscal year (FY) 2011 Department of Defense (DoD) Appropriations Act.

A $15 million appropriation to fund EB research within the CDMRP in the FY 2011 DoD Appropriations Act would move us closer to finding a cure for this heartbreakingly painful and often life-threatening condition. It would give hope to the military and civilian families struggling to find effective treatments for their EB-afflicted children; help provide relief to the millions of Americans suffering from diabetes-induced ulcers; and contribute to advanced care for U.S. combat veterans recovering from thermal or chemical burns. Thank you for your consideration of this request.

Please forward this message to your friends, neighbors and family. Your support can make a huge difference!

Thank you for your support,
Dystrophic Epidermolysis Bullosa Research Association of America

meet rafi, patient #8

I've been meaning to tell you guys about Rafaella (Rafi) who is patient #8 in the stem cell bone marrow transplants. She is two and a half and has Recessive Dystrophic Epidermolysis Bullosa. She is ten days post transplant, and is in the roughest stage of things right now. Please be in prayer for sweet Rafi.

You can follow her journey here. Click on "Daily Updates" for the latest news.

According to Rafi's site, Patient #9, McKensie, will be checking into the BMT floor on March 12th. It is an exciting (but terrifying) time in the EB World.

Please be in prayer for Rafi, McKensie, and also for Sam, who is still struggling.

************************************

Toes look good today! Praise God!!!

prayer requests

UPDATE: Leah is in recovery and did well during surgery. I'll update more when I know. That's all I've got right now.

I've had a lot weighing on my heart lately, but didn't want to share until after Christmas as to keep the bummage to a minimum.

We've had two losses (that I know of) in the EB Community this month. One was a three month old baby with Junctional EB and the other was a six and a half year old little boy with Junctional EB. Baby L got a g-tube, developed an infection, and passed away in early December. The little boy, W, had been fighting severe Junctional EB for six years, and finally, his body just couldn't take it anymore. He died in his sleep on Christmas Eve. I can't tell you the sadness I've felt for their families, especially their mothers, whom I don't even know. And of course, I've had a certain amount of sadness over thoughts of losing Jonah. Maybe it's crazy to think of his death when he's doing so well. I don't know. I know I should focus on the positive, and I do most of the time, but sometimes this stuff - this cruel reality that is Junctional EB - just slaps you in the face. To think that he could be doing well now, but that we could lose him at six years old. I can't handle it. And I think about it. A lot. I just can't help it. And I cry and obsess and cry some more. And then I'm okay. And then I'm not. We were told that non-Herlitz could have a normal life span (with MANY difficulties and complications), but I think I only KNOW of two Junctional EB adults. To me, that just doesn't add up. Anyway, I was doing really well with all of it and then we lost L and W, and I'm in a low now... really struggling with focusing on the now rather than worrying about the what if.

And I guess the real reason I'm posting tonight is to ask for prayers for Leah and Tripp.

Leah (already with a trach) will be getting a g-tube and her teeth taken out tomorrow.

Tripp (already with a trach and g-tube) will be getting his teeth (ten in all I think) taken out on Thursday.

I hate what Courtney and Meg are having to go through. It is not fair that two such young, beautiful mothers have to deal with this. They are having to have their babies' teeth REMOVED because their teeth are tearing their mouths to pieces. That is so incredibly messed up. And please pray for Leah as she gets her g-tube. Thankfully she will not have to be intubated since she already has the trach, but please pray that she will resist infection while in the hospital.

Thank you for keeping all of our sweeties in your prayers. And if you are making any end of the year donations, please consider DebRA or the Epidermolysis Bullosa Medical Research Foundation. We are desperate for a cure! Please help if you can.

sip and shop to raise money for debra

Quick Announcement -

J. McLaughlin, a clothing store, is having a Sip and Shop tonight at their store in Bronxville, NY, where you can socialize and shop during special hours. Best part: 15 % of your total purchase will be donated to DebRA. Matt's sister, Kim, is helping host along with a wonderful lady named Bonnie who works for J. McLaughlin and came up with this whole thing. Thanks so much Kim and Bonnie!

If you don't live in the area or can't make it (crazy time of year!), you can look at their clothing online (www.jmclaughlin.com) and then can call in your order and your 15% will go to DebRA too. You can call the store between 6-8 pm when the Sip and Shop is going on or you can call earlier than that and just tell them to ring up your order with all the other orders they ring up tonight.

Here are the details:

Time: Tonight 6-8 pm
Where: 75 Pondfield Rd. Bronxville, NY
Number to order (now or tonight): 914-779-4613
To browse online: www.jmclaughlin.com

And guess what else?

Jonah has a sweater named after him. Talk about crazy.

You can see it here.

Anyway, I hope you enjoy shopping and knowing that 15% is going to DebRA. I have so many great things to say about DebRA. They do a lot for research, but from a Mommy perspective, I love their patient and family advocacy programs and how they help all of the EB families out there. They reach out in a time you feel completely lost and alone. It's not nearly as scary once you know you're not the only ones out there. They send every new EB family a care package when you first get home with all the EB basics to get you started. AND they answer all your questions immediately and are there for you 24/7. DebRA has already sent all the supplies to our anesthesiologist here so Jonah will be well taken care of should he end up needing a g-tube. I just can't say enough great things about them. I especially love me some Nurse Geri, but that's a whole other post. :)

Happy shopping!

transplant update

Yesterday I emailed the doctor at U of M who is doing the transplants for EB kids.

Here's what I know:

- They are opening up the transplants to Junctional kids. Only seven have been done so far, and those just on RDEB patients.
- Bone marrow transplants are risky, especially without an exact (sibling) match
- They recommend that, since Jonah is doing so well, we hold off for now, although they've offered to evaluate him at any time.

There is so much to think about, and I've looked at the sites of all the transplant kids that I could find. I'll tell you - these transplants are no joke. There is lots of risk involved, and right now, for us, it's just not worth the risk. And by risk I mean that he could die. They would do chemo and I think radiation as well to kill off his immune system. THEN, he would get the transplant, and from what I've seen on these other kids' sites, it gets worse before it gets better... high fevers, worse sores than ever before (temporary but excruciating nonetheless), painful sores in the mouth, isolation for a long time.

Matt and I will be pursuing all the preliminary tests etc that we need. HLA typing (to determine who might be a good match... The doctor said that it's unlikely we'll find a good match among our relatives), genetic testing to determine where, exactly, his deficiency lies, and any other tests they require. If he gets in a more urgent situation or it becomes less risky, we want to have our ducks in a row.

But we may NEVER choose this option for Jonah. That will depend on how well he continues to do. If it becomes this option or death or this option or a much more severe state than he's in now, we may choose this. But right now, we just don't consider the risk worth it... especially since NONE have been done successfully without sibling donors (I don't think, at least). If we thought he had Herlitz, it would be a totally different situation.

If you'd like to follow a couple of kids with me, you can follow:

Samantha - seven days post-transplant, having a rough time right now

Hannah - about 140 days post-transplant, doing well

Keric - about 260 days post-transplant, doing well

*For Samantha and Keric, you'll have to register with Caring Bridge... it only takes a minute.*

Please be in prayer for these kids, as well as kids in a more severe and urgent situation than Jonah's and their parents who are having to struggle with this decision NOW. It's a big one and a hard one, and I can't imagine having to make it. Unfortunately for a "cure" to become a "cure," someone has to go first. These families are so brave and strong for choosing this. I know it is so hard. But Faith in God has been a recurring theme I've found with these BMT kids and other EB kids in general. For the most part, they're still praising in the storm. I'm amazed at their faith and strength.

Please pray.

expanded clinical trials for EB

I'm not really sure what all of this means at this point, but one of my EB peeps (Thanks, Sara!) sent me this article this afternoon.

Stem Cell Therapy for Severe Forms of Epidermolysis Bullosa

CLINICAL TRIAL

This is a single institution trial to determine the effectiveness of stem cells from closely matched related and unrelated donors to replace missing or defective proteins responsible for severe forms of epidermolysis bullosa.

Eligibility Criteria
1. Patients aged < 25 years of age
2. Diagnosis of a severe form of EB characterized by collagen, laminin, integrin or plakin deficiency
3. Adequate organ function
4. HLA matched related or unrelated marrow donor or partially HLA matched unrelated umbilical cord blood donor

Ineligibility Criteria
1. Active infection
2. History of HIV infection
3. Evidence of squamous cell carcinoma

If you or your child may meet the above criteria, you may be eligible to come to the University of Minnesota for the proposed treatment.

Prior to evaluation and screening to confirm eligibility, the following information is requested:
1. Clinical summary from a treating physician, including history of prior surgeries, transfusions, skin grafts, medications, allergies, infections
2. DNA mutation report if available
3. Skin biopsy report (including immunofluorescent staining)
4. HLA typing on child or adult with severe EB and unaffected siblings (instructions will be provided by our team)

SCREENING VISIT
The screening visit will involve skin biopsies, blood tests, photographs, assessment of skin fragility, and genetic testing. In addition, the visit will entail review of the clinical history and detailed to review of what is known and unknown regarding the proposed treatment procedure using stem cell populations from an allogeneic donor.

It sounds like, to me, they are opening up the transplants to Junctional EB patients as well. AND they are not requiring a sibling match for this trial. Now, I'm not saying this is something we would pursue for Jonah any time soon (considering how young he is), but this is HOPE. And maybe by the time he IS old enough that we felt it would be safe enough, they'll KNOW that it works with Junctional and without an exact sibling match.

We are so thankful, and consider this a direct answer to all the prayer that is going up for Jonah and others like him. With each passing day, I feel, more and more, that Jonah WILL be healed this side of Heaven... whether that be a "snap His fingers" sort of miracle, a gradual toughening of his skin, or a bone marrow transplant someday in the future.

Praise God for what He is doing through these amazing doctors and researchers!

Please be in prayer for us as we make contact with the University of Minnesota folks and find out more about our options... Pray that it will be clear what we should do and that we will be wise in the decisions we make for Jonah (now or in the future).

He's doing great, by the way! The nutritionist said he is in the 50th percentile for both height and weight, and has gone from the less than tenth percentile for head size to the 25th. This is no small miracle, to be sure.

No matter what we find out about this trial, we know that God will use Jonah's life to bring Him glory, and we feel honored to be his parents.

So many times, when people ask me how Jonah's doing, I say something along the lines of, "For now, it's just blisters, and that's all we can really ask." But it's not all I can ask. I ask for and fully expect a miracle... whatever form that takes.

And please keep all the other EB kids in your prayers too. There are so many out there struggling with even more than Jonah. I hope they are all going to bed with a little more hope tonight too.