Cancer Sucks

This is not related to Nate or Owen but our dear friend (more like family member), Jenny Daniel, who is battling breast cancer. Jenny was diagnosed with breast cancer and had a double masectomy. And, to top it off, her husband (of course, also our dearest friend/family member), Chris, has had prostate cancer and, hopefully, has beaten it & the odds!

Cancer has affected our families deeply. My mother had breast cancer, my dad had colon cancer, and my brother had melanoma. They are fine now - THANK YOU LORD! My Aunt Sue has been battling ovarian cancer for years via chemo and is still battling. Not only has SMA affected our family, but cancer as well. We pray for a cure for both of these horrible diseases! The strength of my Aunt Sue, Jenny and Chris leaves me in awe. I am amazed at how they have handled it and respect them so much!!! We pray and pray and pray for you all!

Chris sends out "Jenny Updates" and I'd like to share the most recent one from Friday since it is so profound and touching:

Everyone,
Jenny started chemo @ 9:00 this morning and got home @ 3:00. The short and concise version is she tolerated it fine, sleeping through most of it due to the Benadryl they give her. Over the past two weeks she was experiencing a fair amount of muscle, bone and joint pain because of the Taxol, but once she started taking the prescribed pain medication on a daily basis that too was well managed.
If I can, I want to share a little of what the treatment center is like. You have a couple dozen foks in there at any one time taking chemo for all sorts of different cancers. You have young, old and everthing in between. I marvel at the strength and the grace all the patients seem to exude. Beautiful and still somewhat vain women enter with a proud bearing wigs covering a bald head. They walk in as if they were attending a social function. When they leave, they depart with the same proud bearing, but may stoop and shuffle some as they exit, now wearing a wig that is a little askew. Others, like Jenny sit absorbing their poison unconcerned with their shiny bald heads reflecting the overhead lights.
Diane, an absolutely gorgeous girl of 36 is fighting a particularly aggressive form of breast cancer and Jenny speaks with her each time. They are pumping her full of God knows what. She happens to be a nurse, so she is no stranger to a lot of this. Diane was hurting so badly today she had tears streaming down her cheeks from red rimmed eyes.
Jason, a young man in his 20's, whom Jenny befriends, is fighting Hodgkins. Unfortunately, he also has battled Type I diabetes his entire life and has to undergo multiple injections of insulin daily. Jenny asked him a month ago about getting an insulin pump and he said he couldn't afford the $5,500 cost and he had no insurance. Today, as we were leaving, Jenny went up to Jason and said: "Honey, you ARE going to get a pump because I have been praying to Jesus everyday to find you one!" The response from Jason was pretty amazing. He said: "That's incredible, I just found out Wednesday that I am getting one!" (Some foundation is supplying it.)
Cancer REALLY, REALLY, sucks! However, the people are still so beautiful. I just hope I am as good at praying as Jenny is. Please, continue to assist with your prayers. Jenny just has two more chemo treatments to go.
Thanks to all.
Chris (your intrepid cancer reporter)

Jen

Owen Hanging Out With His Buddy Sammie

Happy Easter!!!

We had a GREAT weekend and a very Happy Easter!

Although, it didn't start out too well. Friday, Nathan had an episode of what we think was a mucus plug. He started desatting, had labored breathing and was really struggling. We worked with him for about two hours with extra breathing treatments, coughing, the vest and he was on about 8 liters of oxygen just to keep his saturations up. We called the doctor and had an x-ray taken later that afternoon. Luckily, by the time the x-ray tech showed up at our house, we had cleared whatever was plugging him up. The x-ray came back completely clear - thank you Lord! He was weaned off the O2 and took a good nap. The rest of the weekend went pretty well, with no major episodes, but still not 100%. We kept him in bed and let him rest and recover.

In the meantime, on Friday, we had 3 families on their way to Tulsa to spend Easter weekend with us. The Lengyels, Binghams, and Bisches. All old college buddies of Trey's and their families. So needless to say, we were glad Nate pulled through and was doing better by the time everyone arrived Friday evening.

A total of 9 kids visited our house and it was great for the boys, especially Nate. He loved the company and they all were so nice to him. They read to him, helped him decorate eggs, watched TV with him and Nate was loving every bit of it. Unfortunately, because he wasn't 100%, we didn't get him up in his chair any, but it didn't matter. Everyone kept going back and seeing Nate in his room and he didn't miss a thing! Well, except for the Easter Egg hunt, but it was too cold for Nate to go outside anyways.

Here come A LOT of pics from last weekend. Enjoy!

Jennifer

All the Kiddos and The Whole Group

The Kids Opening Easter Bags

Ryan Watching SpongeBob With Nate

Rose Marie and Alex Reading to Nate

Nate Coloring Eggs and Opening His Easter Bags

Owen and The Girls

Owen Sitting Up All By Himself!

Me and My Sweet Baby Owen

Trey And I Before Our BIG NIGHT OUT!

March 8, 2008

Well, Nate's been doing okay. Not great. He's not been seriously sick, Thank God, but something hasn't been right. We've been taking it easy and doing extra treatments and it seems to be helping. We were able to get him out for a walk today - the weather was so nice! Hopefully, spring is here!!!!

We went to my brother's wedding this weekend and it was so beautiful and so fun! It was the first time Trey and I had been out together in like 8 months!!! We had a nurse come and stay with Nathan, but it was so hard to leave. He was struggling right before we left and we were worried, but we called right after the ceremony and he was doing fine, and did great the rest of the night. Nana stayed with us and watched Owen and all went well.

Nothing much else going on, so this isn't much of an update. But no news is good news right!?!?

Enjoy the pics! This one is of my brother and his new wife, Bradette! We are so happy for them!

Happy, Happy Owen

The Boys

Nana and Owen

Angel Face Nathan

Owen Sitting Up in His Play Pen

We moved Owen's play pen into Nate's room in case there is an emergency with Nate and I'm home by myself I can just throw Owen in there and know he's safe!

Owen Sitting Up in the Tub

Owen will be six months old tomorrow!!! Wow, how the time flies! He's such a big boy - 23.6 pounds and wearing 18 mo clothes! I'm going to have my hands full when he starts crawling and walking! But I'm so excited and can't wait to watch him develop.

Nathan is doing good. He's had some ups and downs with his head and nasal congestion. Struggles at times and then does great. But, he's not truly sick. Praise the Lord! Really, it's a miracle he's remained healthy this season with all that's going around. But, we still have a couple of months to go until we're "in the clear" and out of sick season. I can't wait! I'm ready to get him out of the house!

We have hired a sitter company to come in once or twice a week to help with Owen. It will be a big help so I can get out of the house (my usual Walmart run once a week and maybe to play tennis), but most importantly, I can spend time with Nathan and do things with him. When getting Nate up in his stander, to drive his power chair, to go out of the house, anything like that, he requires my sole attention, so having someone watch Owen will help me with that.

Thanks for checking in!

Jennifer

A Step Forward...

Potential method for repairing misspelling in DNA code that causes spinal muscular atrophy
Medical Research News
Published: Tuesday, 12-Feb-2008


Researchers at the University of Delaware have discovered a novel technique - that acts like a "spell-checker" for correcting a misspelling in the DNA code - to repair the defective gene that causes spinal muscular atrophy (SMA).

This hereditary neuromuscular disease is the number-one genetic killer of children under two years old.

Babies born with Type 1 SMA, the most severe form of the disease, can't walk, crawl, sit unsupported, lift their heads, or breathe normally. Fifty percent die before their second birthday.

The research is published in the Jan. 14 online edition of Experimental Cell Research. The study was supported by $477,500 in National Tobacco Settlement funds to the state of Delaware. The research grant was awarded through the Delaware Health Fund.

"Think of it like a spell-check program--we're erasing the wrong letter in the DNA code and putting the right one in," said Eric Kmiec, professor of biological sciences at UD.

Kmiec, who holds 14 patents for gene-editing technologies at the University, collaborated with research scientist Darlise DiMatteo and undergraduate Stephanie Callahan on the discovery in his laboratory at the Delaware Biotechnology Institute.

The technique has shown promising results in tests in mice and is now poised for development by OrphageniX Inc., based in Wilmington, Del. The start-up company was incorporated in 2005 to commercialize UD-patented technologies for repairing genes that cause rare, hereditary, "orphan" diseases, so named because they have not been "adopted" by the pharmaceutical industry for the development of treatments.

According to the Families of Spinal Muscular Atrophy, an international, nonprofit organization, the disease affects one in 6,000 babies born, and one in 40 people is a genetic carrier.

A genetic 'bandage'

Spinal muscular atrophy is caused by a mutation in the SMN1 gene, which affects the motor neurons, the nerve cells in the spinal cord that control the muscles of the rib cage and limbs, which are essential for breathing, swallowing, sitting and walking.

Each gene is made up of a length of DNA, a code composed of the four chemical units that make up the genetic alphabet: A for adenine, G for guanine, C for cytosine and T for thymine.

In spinal muscular atrophy, a defect occurs in the SMN1 gene. There's a letter out of place--a T (thymine) occurs where there should be a C (cytosine). As a result, the gene doesn't make a protein that the motor nerves in the spinal cord need to survive, which leads to the gradual atrophy, or wasting, of the muscles.

To replace the function of the defective SMN1 gene, the UD research team used a gene in the human body that is nearly an exact copy (SMN2). Then they introduced a small fragment of this healthy gene's DNA--a genetic "bandage" referred to as an oligonucleotide--into a diseased cell, triggering the cell to heal itself.

Tests of the technique in mice with spinal muscular atrophy, conducted by Jackson Laboratory in Bar Harbor, Maine, showed "very promising results" with the development of healthy muscle in the animals, Kmiec said.

"Babies with SMA die early in life," Kmiec noted. "But if we can deliver the healing agent to the appropriate cell, we can help address this horrible disease. We're not looking at a cure, but we hope this technique could lead to a series of treatments that could alleviate the symptoms and improve the quality of life of patients," Kmiec said.

The technique, known as targeted gene alteration (TGA), is among a group of UD-patented technologies under development by OrphageniX, a pre-clinical development stage biotechnology company that has moved quickly out of the starting gate since its launch in February 2007.

"OrphageniX plans to develop a treatment for spinal muscular atrophy with help from expert consultants in the field," Michael Herr, chief executive officer, said.

The development of a treatment for SMA would advance to clinical testing within a year from funding by either investors or commercial collaborators, Herr noted.

Patients with the less severe, Type III form of spinal muscular atrophy would be targeted for initial human trials. Although individuals with Type III SMA suffer from a range of muscle weakness and fatigue quickly, the disease generally is not life-threatening at this stage.

Herr said that OrphageniX is committed to helping people by commercializing scientific breakthroughs, but he noted that, "we must also provide an adequate return to investors for OrphageniX to succeed."

Truly translational research

For his latest research to be truly "translational," extending from the lab bench to the bedside, Kmiec said it has been critical to involve people like Darlise DiMatteo, who have a keen understanding of spinal muscular atrophy.

DiMatteo, who joined Kmiec's research team a year ago, formerly worked at Nemours Alfred I. duPont Hospital for Children, where she conducted research studies of muscular dystrophy and SMA for more than a decade. The world-renowned children's hospital continues to be an important partner on the project, Kmiec said.

"We've received significant assistance from Drs. Vicky Funanage and Wenlan Wang at A. I. duPont Hospital," Kmiec noted. "They would be a natural choice for clinical trials in SMA."

"I love coming to work knowing that this research could make a difference for families affected by this disease," DiMatteo said. "It's intriguing--why does a deficit in this particular protein cause this disease? And why do humans have an SMN2 gene that's almost identical to SMN1 when animals don't have that kind of backup? The effort will have been worth it if we can help find the answers."

The research also has had a profound effect on Stephanie Callahan, an undergraduate student at UD who helped carry out the laboratory experiments, working under DiMatteo's guidance.

Callahan had the opportunity to participate in the project through a summer internship in the IDeA Network of Biomedical Research Excellence (INBRE) program offered by the Delaware Biotechnology Institute when she was a student at Delaware Technical and Community College. Now she's finishing up her degree in biological sciences with a concentration in biotechnology and wants to pursue her master's degree at UD. After completing her education, she hopes to get a job doing research in industry, perhaps at a pharmaceutical company.

"It really opened my eyes to the possibilities and the potential applications of what you can do in the lab," Callahan said. "It's been a great experience for me."

Kmiec said the research so far has all the elements of a "real Delaware story"--connecting UD, A. I. duPont Hospital for Children, tobacco settlement funding awarded by the state, and a start-up company fueled by Delaware investors--and he's excited about the future.

"Publishing an article in a research journal is not the accomplishment--that is what some of us are paid to do, and my colleagues do this as well as I," Kmiec said. "But the fact that the research program is translational and is working in that direction with outside validation and support is the real news. I hope our experience will help UD and other researchers like us realize their technology possibilities," he added.

"What we've discovered--this gene spell-check--sounds very simple, where you erase one letter and put the right one in," Kmiec noted, "but finding the pathway has taken a long time, since 1994. Now, with this latest development, we've taken a laser shot out of the primordial soup. It's a chance finally to make a difference for families with this disease."