Pics of Nate

He's doing so much better!!! Thank you Lord!

Play Date with My Friend Michelle and Her Two Kiddos

My friend, Michelle, brought over her two kids, Charlie and Evelyn. We had a great time. Owen was in awe of Charlie. He watched him play and was literally in a trance observing him - it was the most still and quiet he's been in a long time!

Gammy and Owen

The Boys

Reflections

Heaven gained another SMA Angel the other day. Skylar, a little girl almost 8 years old with SMA Type I, passed away on Monday. As I was looking at her website and reading her family’s journal, I came across the following quote from Aron Moss that I wanted to share. I feel it is so true, not only for our SMA kids but for ANY handicapped child.

Every birth is a gamble. A soul enters the world innocent and pure. But it may not stay that way. This world is a maze of diverging pathways, both good and evil, and the choice is ours which way we go. Once a soul enters a body, it is free and therefore vulnerable to corruption. While acts of good elevate the soul, every act of evil makes a blemish on the soul.

Some souls are so lofty, it simply isn't worth the gamble. These souls are too precious to risk being compromised by life in a body. They are too high to come down to this world. But the other option, not to be sent down at all, to never reach this world, would mean that we would miss out on meeting these holy and lofty souls and hearing their message.

So these souls do come down. But in order to be protected from the potential evils of an earthly existence, they are sent down into a body that will not compromise their holiness. They enter this world in a form that is above sin, above evil. From a purely physical perspective we call them "disabled" or "handicapped"; from the perspective of the soul they are protected. They will never sin. Their sojourn in this world is often brief, and in terms of this world may seem sad. But they have retained their purity. And they have fulfilled their mission.

These special souls remind us that true love doesn't need a reason. We often love others for what they give us -- we love our children because they are cute, smart, and high achievers; we love our spouse for the pleasure and contentment they give us; we love our parents because they care for us. This is love, but it is not pure.

When a child is born that will never achieve worldly success, cannot provide the usual source of pride for his parents, all extraneous reasons to love him fall away and what's left is the purest love that there can be. These children are lovable not because of what they do for you, and not because of what they will one day become, but simply because they are.

These pure souls remind us what love should be. Only such a pure and holy soul can elicit such a pure and holy emotion. We can only stand in awe of them, and the parents and friends who care for them. And we can only thank them all, for giving us a glimpse of what true love really means.

Trey

Nathan Update and a Few Pics

Nate is definitely doing much better, but he's not out of the woods yet. He has had some scary episodes since being home from the hospital, but we have been able to stablize him. He'll be doing great one second and then start struggling. Still not sure if it's allergies or a cold, but we are so happy that we were able to bring him home and treat him here. He's much more comfortable and there's nothing they could do in the hospital for him that we can't do at home. You can tell he's feeling better when he's back to staying up for hours at night laughing and talking! We were finally able to get him in the tub Saturday for a full bath and he really enjoyed it and I know it made him feel better. He also drove his power chair on Saturday - it was so beautiful here. Then yesterday he had a scary 45 minute episode and so he rested most of the day. We will continue to take it easy and not overdo it to give him time to get back to 100% and ready for a fun-filled summer! It's almost pool time!

We were able to get a few pics of Nate without his bi-pap on yesterday. He's barely been able to be off it for even a few minutes - so this was also a good sign!

Thanks so much for all your prayers and support - it means so much!

Jennifer

Owen in His New Swing and a Couple of Random Owen Pics

Owen LOVED his new swing! He laughed out loud the whole time!

Sunday Morning Update

Nate is returning to his normal routine now that he is back home. Friday afternoon he slept for 3+ hours then was back asleep by 9:10PM and slept all night. Saturday morning was a little rough for him but once we did the VEST and suctioned out some of the thick secretions, he did much better.

The best thing was probabaly the full body sponge bath on Saturday afternoon! You could definitely see that he felt better after the bath and he started making more of his normal sounds. He only slept for 30 minutes yesterday afternoon because the dogs went crazy barking at another dog in the front yard and all the commotion woke him up. Needless to say, it was an early night for him and he was asleep before 9:00PM.

His secretions have thinned out and they continue to flow out of him. This is a good thing as they are not going down into his lungs. His lungs sound much better and we continue to do extra breathing treatments and extra VEST sessions to keep everything moving.

It looks like we're over the hurdle and we'll find out early this week if any other infections grew out of the cultures. We'll continue to take it easy and let him catch up on his rest as the whole experience was pretty draining on him.

Thanks for your prayers & support!

Trey & Jen

No RSV and we're back home!

The RSV results came back and they were NEGATIVE!!!

Since he does not have RSV and we have everything that we need to take care of him at home, the attending physician agreed to letting us bring him home. We arrived about 30 minutes ago and Nate is just about to fall asleep.

It's been a rough time but his heart rate is more normal and his breathing is not as labored as it was yesterday. He is definitely fighting something but it's not RSV...which is very good! He still needs some O2 to keep his saturation level up but he is also very tired.

THANKS for your calls, e-mails, prayers & support!!

We'll update later....

Trey

A few extra prayers...

Nate is in the PICU at St. Francis so a few extra prayers would be appreciated.

He had a rough day with thick secretions, an elevated heart rate and some labored breathing. About 6:30PM, his fever spiked to 102.1 degrees and he was really struggling. Our big fear is that he has contracted RSV so we went ahead and got him admitted into the PICU. They took a chest x-ray and obtained a nasal culture so we should have some preliminary answers on Friday.

We'll update as we can and THANKS for your prayers and support!

Trey

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."

Nate With His New Quilt From The Charity "Cole's Quilts"

This quilt is absolutely BEAUTIFUL and so special! It came from Cole's Quilts, a charity for SMA children. People from all over the US and Canada needlepoint squares for these quilts (each square is from a different person). And, it has all the things Nate loves - Spongebob, Blue's Clues, and his very favorite Veggie Tales! We will hang it on his wall so he can look at it every day. Thanks again to Cole's Quilts!

Owen With His Valentine's Balloons from Sweet Gammy

Random Pics of the Boys

Just Another Update (and some pictures - of course!)

Cold, warm, snow, cold, rain, warm. We can't figure out what the weather is doing here in Tulsa!! Nathan is doing pretty good. We had a scare last week with his leg. The strap from the sling for the lift got caught on a part in his stander and pulled on his leg pretty badly. It was swollen and he cried and cried, even if you acted like you were going to touch it. We had an x-ray taken and, fortunately, no break! But we had to keep him in bed for two days to let it heal. It was hard just to turn him, poor guy! It seems to be doing much better the last few days and he's able to get up without any pain or problem. Now, however, he's fighting a sinus thing. We don't think it's an infection because he hasn't really run a high fever on a consistent basis. His lungs sound fine, just lots of secretions coming from the head and scabbing in the nose. We are being extra cautious right now as far as getting him out of the house and having people over. Our nurses, therapists, teachers - everybody - has been sick with one thing or another. LOTS of SMA kiddos have been sick and, unfortunately, a few have passed away. We continue to pray for all of the SMA children and their families as well. For healing and a CURE! I never thought I would be so scared of germs or getting sick, but it could be a matter of life and death for Nathan. So being OVERLY cautious is something that has become a part of our daily life. Thankfully, Nathan has made it this far into "Sick Season" without a major illness so we're keeping our fingers crossed he can make it to Spring. And then we'll go crazy with fun! Needless to say, we haven't made it to the Veggie Tales movie yet since I want to make sure he has absolutely no problems before we take him out in public.

Although we aren't getting out much, Nathan is very busy. We are still meeting with our physical therapist and the rep from Majors Medical Supply to get his power chair completely adjusted. We are hoping to meet with the speech therapist again soon about 1) the eye gaze communication device and 2) using some switches for his computer games (which he already does sometimes). He doesn't seem that interested in the computer stuff with switches - maybe he just needs some guidance and tweaking as far as the right kind of switch to use??? The teacher is still coming once a week and he loves these sessions! There will be a rep coming by either this week or next about a portable lift, which we need desperately. The ceiling lift in his room can only get him into/out of the tub, his stander, his Kid Kart and his Power Chair. We need a portable lift to take him out in the living room to lay on the floor or on the couch and to go outside to get into his swing or the pool. He's gotten way too big for us to try and lift him!


We had our meeting/tour of the PICU at St. Francis Hospital and it went very well. The PICU Clinical Manager showed us around, introduced us to some respiratory therapists, nurses, doctors and answered/asked us lots of questions. We got a good feeling about it and she said they would definitely listen to us as far as Nathan's care. Of course, until Nathan is actually hospitalized (which we hope never happens again!), we won't really know the level of care and exactly how things operate. Regardless, it really helped ease our minds and at least we know what we will be walking into. Becky, the PICU Clinical Manager, was also very helpful and said she would make sure she would assist us in any way she can with the concerns we have about Nate's care. On Sat., Feb. 2nd, Trey and I will be attending a Community Tour for the brand new PICU, which is part of the new Children's Hospital at St. Francis. We were told the rooms are huge with a bed and bathroom in each room and it is much more "parent friendly". That all sounds great, but our main concern is Nathan's medical care and luckily, we feel much better about that also.


Here's a few pics. A couple of Owen where he actually looks small (only because he's in a big chair) and a couple of Nate (one with his Vest on).


Thanks for checking in !


Jennifer

Our Smiling, Always Happy Nathan

This pic really shows off his two front teeth! To get a bigger view, just click on the picture to enlarge.