New Research!

Always good news to see these types of things!

New Grant For LGMD2D Gene Therapy

An MDA grant will move researchers toward a clinical trial involving bloodstream delivery of the alpha-sarcoglycan gene to thigh muscles.

by Margaret Wahl on December 24, 2009 - 12:11am

Development of delivery of a therapeutic gene via the bloodstream to the thigh muscles in people with type 2D limb-girdle muscular dystrophy (LGMD2D) is proceeding on schedule, thanks in part to a new $458,814 grant from MDA to neurologist Jerry Mendell at Nationwide Children's Hospital in Columbus, Ohio.

MDA's Board of Directors approved the new funding, via the Association's translational research/MDA Venture Philanthropy program, on Dec. 4, 2009.

Delivering a therapeutic gene to the thigh muscles via the bloodstream (vasculature), the ultimate goal for this project, has the potential to improve function, such as walking, for people with this disease.

To date, clinical trials of gene therapy in LGMD2D and in Duchenne muscular dystrophy have involved direct injection of a gene into a single muscle. While of crucial importance, these trials have focused on safety and gene activity, not on improving limb function. (See Gene Therapy Trial in MD First to Show Promise Beyond Safety and Gene Transfer in Alpha-Sarcoglycan-Deficient LGMD.)

About LGMD2D

LGMD2D, one of many forms of LGMD, is characterized by weakness and muscle atrophy, particularly of the muscles of the upper arms and upper legs. The underlying cause is a mutation in the gene for the alpha-sarcoglycan protein, which normally helps stabilize the membrane that surrounds each muscle fiber.

Raising alpha-sarcoglycan protein levels via gene therapy would target the fundamental problem in LGMD2D and has the potential to change the course of the disease.

Hints that this strategy could be effective came in April 2009, when Mendell and colleagues announced in Annals of Neurology that injection of alpha-sarcoglycan genes into a foot muscle in three young people with LGMD2D was safe and increased production of the alpha-sarcoglycan protein four to five times over baseline.

About the new grant

The new MDA grant, and funding from Nationwide Children's Hospital, will allow Mendell and colleagues to conduct the testing the U.S. Food and Drug Administration (FDA) requires to obtain permission to conduct a clinical trial of vascular gene delivery in people with LGMD2D.

The proposed human trial, which can be approved only after the testing results have satisfied the FDA, involves injecting alpha-sarcoglycan genes encased in adeno-associated viruses (AAVs), via the bloodstream, to the quadriceps muscles of the leg.

Mendell, a specialist in neuromuscular disease, is director of the Center for Gene Therapy at the Research Institute at Nationwide, where he also co-directs an MDA neuromuscular disease clinic; a professor of pediatrics, neurology and pathology at Ohio State University in Columbus; and a longtime MDA research grantee.

Meaning for people with LGMD2D

Vascular gene delivery to the leg muscles, the ultimate goal of this project, would, if successful, be a major step toward helping people with LGMD2D to walk.

In addition, success in LGMD2D could have implications for other forms of LGMD and perhaps other forms of muscular dystrophy and would suggest that gene therapy is moving ahead. This is good news after some hurdles and setbacks in the field that caused its development to stall in the early part of this decade.

Look for information about the anticipated vascular gene therapy trial as it becomes available online on MDA's Web site and in MDA's Quest magazine.

LINK HERE TO READ ARTICLE

Today I was given the opportunity to read such a beautiful "poem" or as i say story...

The Special Mother

by Erma Bombeck

Most women become mothers by accident, some by choice,
a few by social pressure and a couple by habit.
This year nearly 100,000 women will become mothers of handicapped children.
Did you ever wonder how these mothers are chosen?
Somehow I visualize God hovering over Earth
Selecting his instruments for propagation with great care and deliberation.
As he observes, he instructs his angels to take notes in a giant ledger.
"Armstrong, Beth, son. Patron Saint, Matthew."
"Forrest, Marjorie, daughter. Patron Saint, Celia."
"Rutledge, Carrie, twins. Patron Saint...give her Gerard. He's used to profanity."
Finally he passes a name to an angel and smiles. "Give her a handicapped child."
The angel is curious. "Why this one, God? She's so happy."
"Exactly," smiles God. "Could I give a handicapped child a mother who knows no laughter?
That would be cruel."
"But does she have the patience?" asks the angel.
"I don't want her to have too much patience, or she'll drown in a sea of self-pity and despair.
Once the shock and resentment wear off she'll handle it."
"I watched her today.
She has that sense of self and independence so rare and so necessary in a mother.
You see, the child I'm going to give her has a world of it's own.
She has to make it live in her world, and that's not going to be easy."
"But Lord, I don't think she even believes in you."
God smiles. "No matter, I can fix that. This one is perfect. She has just enough selfishness."
The angel gasps, "Selfishness? Is that a virtue?"
God nods. "If she can't separate herself from the child occasionally, she will never survive.
Yes, here is a woman whom I will bless with a child less than perfect.
She doesn't know it yet, but she is to be envied.
She will never take for granted a spoken word.
She will never consider a step ordinary.
When her child says momma for the first time, she will be witness to a miracle and know it.
I will permit her to see clearly the things I see--ignorance, cruelty,
prejudice--and allow her to rise above them.
She will never be alone.
I will be at her side every minute of every day of her life
Because she is doing my work as surely as she is here by my side."
"And what about her Patron Saint?" asks the angel, his pen poised in the air. God smiles.
"A mirror will suffice."

I think sometimes in my fit of anger, rage, and emotions; I forget to take the time to thank my Dear Lord that I am just that lucky. I am truly blessed to have such a wonderful daughter. She is so bright, bubbly, smart, and fun. She has no ill will towards anyone or anything. She is so kind and gentle, and she is the best person I have ever stumbled across.

I just wish people knew more about the emotions and feelings of people like Cai. That her heart aches with sadness when people laugh at her. Her feelings get damaged when people point and stare when she falls. I wish that for once my daughter wouldn't be looked down upon rather applauded for dealing with something we never could.

God blessed me with Caileigh because he knew that I need to be witness to such glory. I needed to see that so much more could be wrong, but not a bit of it might phase her. He wanted me to observe that no matter how full one's plate might be, that the fullness doesn't have to be negativity. I am the lucky one here, I was blessed with such a GREAT kid.... :)

Caileigh's Crusade

After much debate we decided to do it... To petition all city and county parks and rec. to install at least 1 handicap playground in the community. We are going to begin to do this nation wide eventually. I am spreadding the word that it is unfair for my child, your child, or any handicap child to not haev the option to play at the park.

My daughter is 5 years old and sadly has only played at the park a handful of times. Due to her muscle deterioration she is not able to climb on the equipment at a standard playground. So sadly we tell her "NO" because the risk of injury is way to great. She lacks the muscles in her neck and joints and if she were to fall in jsut the wrong way she could be more critical than she is now.

I have e-blasted this all over the web. I have added it to facebook, cafemom, and even her website. All it takes is one person to make a difference. Please help Caileigh be that person.

http://caileighspage.info/Welcome.htm

I just feel so hopeless at this point

I do not normally get so sad over these things... ok yes I do. See below... I am so distraught

As many people know, my dear daughter was diagnosed three years ago with MD (muscular dystrophy). Ever since then it has been an out set of dr. after dr. never ending. Recently her neurologist requested a visit to a pulmonologist... makes since seeing as that her lungs are a muscle! She has had weak muscles for what seems like ever and her lungs have been bad for a long time... she has had pneumonia 12 times in her 5 years here. God Bless her.

The pulmonologist said there is a decrease in her strength even after the medications that were meant to help. So they are sending her in to do a sleep study and a pft. Seems normal enough, asthma people do it all the time...However I need to remember that my sweet thing is never normal and nothing surrounding her is.

The difference is, oh man its so scary to me to state this... they want the sleep study done because they are worried that with her weakening lungs, that as her body and muscles slow at night as every-one's do, hers may stop all together. I never thought of that I guess. The reality of a dr. saying that to you is sickening. To know that the possibility of that is realistic.... ohhhhh my heart sinks. The fear sets in.

They also want her to do a PFT because they know that she does not suffer from obstruction rather restrictive problems... my fear is growing every call I get from a doctor now... I didn't think I would get here this fast. I thought Cai had many many years because her form wasn't that bad... how did we get here? I am devastated with the news of the need for these procedures and the purpose... oh Dear Lord please give us the strength to get through this. We have 4 of these scheduled right up to Xmas.... Im crushed... I am hoping we can reschedlue some to give her a break to enjoy the holidays.

Cai has her own website with information about her condition, I try to update it regularly! Thanks for listening and please say a prayer for my sweet baby... She doesn't deserve this. If you have any words of advice please share them with me... I am slowly losing my mind with this disease and it's effects on my precious child.

Cai's Website

So we took some pictures this weekend to try and put together a Christmas/Holiday card to send out... The very last one will be our cover for the card.. or actually the photo for the card! The others were just plain fun! They are not 100% professional but my oldest sister who is going to go into photography took them for us... I love them. More to come... as she edits them!

Sometimes I just want to crumble

As my daughter has aged (and so have I) I have found it harder and harder to stop the tears. I hope I am not alone on that! I cry over EVERYTHING... ummm if there is a pretty butterfly or a rainbow , a dog on the side of the road, or an elderly couple I cry. I am not sad but I cry.... My tears are tears of disbelief that I could be witness to such grand things.

Saturday was the annual MDA Walk-A-Thon at the Zoo in Atlanta. Standing there with my beautiful daughter, family and friends it hit me just how fortunate I am. I say it all the time that I am not good enough to be Caileigh's mom. She is an amazing little girl with so much to offer, I feel inadequate to her level. She has such a wonderful support system. She has so many people who love her, she is so blessed. I am so blessed to have her. As we heard the sponsors read the totals raised for the year my eyes filled with tears. Not because my donations were huge, not because of the total raised, but because the amounts shows just how much people care.

People donated in this time of need to a cause that supports my daughter. My eyes filled with tears knowing that we all stood there with one purpose. We all had in common one desire. We all had the same hope at the same moment, knowing that there is so far to go and we have come so far. Knowing that with every dollar earned there was hope that one child wouldn't have to suffer anymore. Knowing that with every dollar maybe my child wouldn't have to suffer anymore. Knowing that the word has spread that it is time to end childhood disabilities for good.

I need to take the time to be more thankful. To my wonderful family, friends, and loved ones who came out with us on Saturday. To the families of the MDA victims who are here and gone. To the volunteers donating their time, efforts, and goods to my family. To the organization workers who spend time and know us personally. Dear God please bless these people as my family is so blessed to have them.

God works in mysterious ways. I can't keep asking why Caileigh? Why Caileigh? He planned this. Caileigh is here to show me how to love, be compassionate, understanding, and loyal.

Stuff White People Like ... Pun intended!

My day started out very rough... so I decided to make it better on my own... that is why I started digging through this hilarious website. If you have a sense of humor even a small one you will giggle to yourself! This site is far too funny not to re-post... hahaha dig through and enjoy! Makes me laugh because much is true...

http://stuffwhitepeoplelike.com

Enjoy a good laugh no matter what color you may be! because this truly is funny... :)