Sigh of disbelief and Believing in Miracles - Living with Spinal Muscular Atrophy type 1

Don't you love Lizzy's new kimono? Her Aunt Rita and Uncle Jim send her one every year for her birthday!! Hard to believe Elizabeth is seven years old!! She  did not want her picture taken so I had a hard time getting her picture above.

Its been a while since I have updated. Lizzy has been great for months. She is very much quite aware of EVERY-THING that goes on around her. She is very opinionated about EVERY thing also. If you need to know anything just ask her. I love her so very much. She is just a great kid.
 Lizzy is  now showing the first signs of a sinus infection so I have upped treatments today. Keep her in your prayers. She is okay right now but secretions galore and stuffy nose. No swim therapy today :(  first time in a long time. We just could not chance taking her out with the symptoms she is having. She was mad about missing swimming as she loves it!!
These days I have been so busy . My husband's lap top was broken (from unknown means) I do not have time to pop on the home pc to update. I can not get too far from Lizzy because she needs suctioning, moved around, help with home work or just wants me close. Which is all the time. I am not complaining its just the way things are around here. Its my life.

Reed Michael graduated today from the guard but.... with all that pride we felt was quickly replaced with  worry and concern due an accident or something that recently happened to Reed . Just look at his leg below.after the cake I bought for him that will be taken to him on Sunday. This all happened right after graduation.

 You are beaming ear to ear with pride , then a sigh of disbelief and the reality of  Reed Michael having surgery today because of an injury or  a spider bite. His leg swelled double in size and having to be drained. Have you ever just been so upset that your knees go weak and your heart just aches and you are afraid to breath? OH  MY gosh....... then you think OMG.... this is NOT A DREAM this is Reality!! This just sucks!! Poor Reed!!

The school here is not getting Lizzy a tutor. Its now almost NOVEMBER. She is learning on the computer yes. but she needs a teacher. She just  does not cooperate for me or focus on the one to one with her and I.  The Video conferencing is out according to the school. Come on people. Elizabeth is 7 years old. I have been trying to do this alone but as GREAT as I am I am not educated to be a teacher. I am educated in Sociology. Political Science and Criminal Justice. I am a great nurse to Lizzy but that is an inherited and in my genes. My great grandmother was a midwife in Canada. Teaching qualities have never been my expertise.
We have been doing ABC eggs and she is doing well but she needs more.

On a good note. I had two great things happen to me this week. My blog is on the top 30 on the SMA web-sites for 2010. That was quite an honor.People actually read my blog!! Thank you.
I also got a letter from another parent praising me for just being me. That was really nice and quite unexpected.
Lizzy's fundraiser is next week-end. Lots going on!!

I have been making hair bows and will be selling them at the fundraiser and making some for another organization.  I am also making gifts baskets of many different items to do a white elephant sale also. I have not had much time all summer to work on making bows but now in the evenings I am making some. I need to power sew to make a lot!! If I was not so darn picky I could mass produce!!

Paul has not gotten a job since he has finished school. He has applied for jobs  but NOTHING as of yet! I know patience.... He  was not born with patience!!  He is afraid its his age. The man is 56 years old.

Robby was here for his birthday Oct.3. He went golfing with Paul.  I made him a home made cake. His school colors. Hard to believe he is 13!! Oh my where has the time gone. I remember his first Harley Coat we bought him. It was size 2. Brings tears to my eyes. Life seems to fly right on by.

A baby earned his wings a few weeks ago that was diagnosed with SMA after he was hospitalized  at age 9 months in an area hospital. We live so close but feel as if we were so far away because no one called or did we know about this little one. This  hurt  us so bad that the hospital is still not doing the protocol for SMA. Send prayers to this family. I have talked to the patient care director and got no where but did sent her the respiratory protocol from DR.Schroth. What can I do to get these people to listen to me? Who can I talk to to help me with this?
An article about Elizabeth is being done soon by a local paper because of her benefit. I will again express the importance on the area doctors at least looking at the protocol. It could save a baby's life. These kids are miracles and their lives so precious.

Please add Reed Michael, Elizabeth and all the families that need prayers to your list.

"We believe in miracles because we live with one!!"
www.our-sma-angels.com/elizabeth
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Learning, Loving and Seventh Birthday- Living with Spinal Muscular Atrophy Type 1

Our Rock Star, princess, little miracle child turned SEVEN Years old yesterday!! Can you believe it!!
Its hard to believe she is this old. She is doing well and such a fantastic kid!! Thank you God and thank you to my dear friends in the "SMA World" for helping us get here!!  What do you say now DR. Morgan? Hmmmm? He told Christen" Lizzy would not make it to one let alone 2 years old." "EAT SOME CAKE  DR. Morgan!! " God bless you DR. Morgan . I do not let that man get to me anymore. Lizzy is doing well and that is all that matters!!
Lizzy has been on the AA diet since she was 1 year old. She has been on NIV protocol since she was nine months old. We have great doctors and great therapists. Last hospitalization was March 2005. She has been on donor breast milk since she was around 2 years old. I still research everything I can and learn more all the time!! I started using Fruits of the Earth a few weeks ago and Lizzy is doing great on it. I use about 1 teaspoon in her food mixture.


We have been so busy!! She  has been doing school work now every day for 5 hours a day now when we can. She is like a sponge!! She has been doing http://readingeggs.com/  and she loves it!! She is already actually reading!!

We have down loaded the clicker 5 evaluation program but I still trying to figure it out.

Lizzy got her new Elbow splints  in the mail  last week and what a HUGE surprise. One pink one purple and she wore them with out a hassle!!She has a new seating system coming here soon for her purple power chair. 

We have had so many appts these past few weeks.We had 4 appts last week. Saturday we had a football game with Caitlyn cheer-leading , grocery shopping at Sam's and Sunday Lizzy's Party. This week we had a appt in Indiana with a great lady that said "we can do things ourselves to help Lizzy's rib/shoulder blade"She is a Pediatric Myofascial Therapist Specialist that has taught at Northwestern. She does all sorts of Physical therapy. She is excellent!! Taught us how to help Lizzy back , ribs and to also help Lizzy's scar tissue in her tummy to prevent getting a bigger g-tube. I was impressed!! 

Tuesday we had Speech. Yesterday , was Lizzy's "Real Birthday Day" as she told me and her and I watched Corbyn.  Well, Lizzy and I watched him. He was into everything!! From toilet paper to dog food!! He was fun though but wore me out!! 

Today Lizzy had swim therapy and we went to Hobby Lobby then home. 

"sigh of relief" I can relax tomorrow. Just Lizzy and I tomorrow I think so far

Paul's last day of school was today . He scored the highest in his class and missed NO days of school since the day he started. We are quite proud of him. Now, he can relax a few days and hopefully get a job soon.

I feel great things coming for us in the near future. I hope it happens.

I just have to say if your child has SMA please get blood tests done every six months to check if things are okay.  no matter which type they are. Many older kids are having issues and I pray they find a way to help these precious heros.  I had to make some changes in supplements recently because Lizzy was starting to drop in her aminos. Also, Calcium citrate is so important, as Vit D 3 is and Vit C. Make sure you check essential Fatty acids, Amino acid profile, Carnitine Levels and Vit D levels also besides regular blood tests like the CBC with differential. 

You need to ask for these tests because the doctors will not just do them. YOU NEED to keep a close eye on these things. To help keep your child strong and healthy do these tests . Its so important. I am pleading with you please. Help your child. You can not blame it on the AA diet because that is a crock in my honest opinion. These kids never did so well until the AA diet. The diet works if you get blood tests done regularly and monitor diet and figure out what works for your child . Not saying any parent has done anything wrong just some constructive advise from a grandmother that cares about each and everyone of your children. 

Well,  as fall takes over we with great sadness will miss the summer. Stay well and healthy. Thanks for checking in on us. 

God Bless and Thank you for being a part of our lives!!
Thank you for all the birthday wishes and the the gifts for Lizzy. 

"We believe in miracles because we live with one!" 

www.our-sma-angels.com/elizabeth

How Lizzy uses the computer - Living with Spinal Muscular Atrophy

" We believe in miracles because we live with one!"
www.our-sma-angels.com/elizabeth

Living with Spinal Muscular Atrophy - "Life is good!"

Life is good. Every just think to yourself, " life is good?"Things are better? Then, take a big "sigh" and say "Oh yeah" this is what its all about.

Lizzy got her new Bipap/Vent. The Trilogy. She loves it!!! We switched to a wonderful respiratory care company out of Indiana . Mobile Medical Maintenance. They have RTs in Peoria. DR. Schroth hooked us up . No more dealing with denials from Apria !! Thank you DR.Schroth!!! Apria the company in general has been the biggest pain  in my hiney since we have started getting respiratory equipment for Elizabeth .Yeeeee Haw..... As, I said, Life is Good. They are also trying to get Lizzy a new suction machine and a few other things.
Elizabeth is actually wearing her hand splints , knee immobilizers every day now. She has been back in her stander also. Life is good.

We are searching for a new donor for breast milk for Elizabeth. Her current frequent donor is pregnant. So, happy for Dina and her family but going to miss her . She gave Lizzy her most precious gift  that only God can make.  Thank you Dina so much for helping Elizabeth.

Elizabeth is on her computer most of the time and has been for over a year. She finds so many games online she can play. She uses an online key board for the up /down buttons and uses it to type in where she wants to go. Its great to see her able to go any where she wants on the internet. (Yes, she is monitored). It makes her world so much better. Life is good

My handy husband finally replaced the down stairs light fixtures. Some that have been gathering dust since 2004. I bought some of them  myself when I was getting ready to redo my house. Things have not been the same around here since 2004 The carpet in the living-room was finally replaced . It has been in the dining room  rolled up  in a corner since before Christmas last year.
Life is good.


I got all my wood work washed ,my window seals clean and my curtains washed while every one was at the parade yesterday. Life is good.

We have been cooking up a storm around here. Christen has learned to make pie crust. She made a pecan pie and pumpkin pie last night and brownies tonight.  I am totally allergic. I break out in fat every where!!I have been good.  I am getting ready to make hair bows again for the holidays and for a few fundraisers. Its been hard with all we have to do all summer. We are so busy still but no big trips for awhile.

Lizzy fundraiser is October 23. We have a great committee and I think it will be a huge success!!

"We believe in miracles because we live with one!"

www.our-sma-angels.com/elizabeth

Living with Spinal Muscular Atrophy - Many Changes in our lives this summer

Summer is winding up with some really hot days and fall is sneaking up close behind. Its been a good summer with lots of emotions and changes in our lives. My grand-son Reed graduated from high school and Rachael my grand-daughter graduated from eighth grade . Reed went to Basic for the National Guard.We drove a total of  4600 miles for a trip to Stanford and the FSMA conference with the help from two organizations. We went to Minnesota and stayed with Drew and his family. We saw the Doebberts while we were there. Drew, Sophia and Lizzy went to the American Girl Doll Store restaurant. We had a fabulous time while in Minnesota. Good people, good time and good food!!

We went to Madison ,WI for muscle clinic. Faced the fact that Elizabeth might need spinal surgery. That was a hard to deal with but I have a little help stretching Lizzy now from Christen.
We also have 2 other professionals help us with  helping Lizzy that does MF release and swim therapy. They all agree Lizzy needs to get in her stander daily to help her more. Lizzy breaks out in a rosy rash and holds her breath and says she can not breathe when we put her in it. Truly, she does really its just she wants to stay on her computer all the time. She has gotten really good at doing this sort of thing when she does not want to do something and manipulating us!! Well .....she has had almost 7 years experience and knows how to control us!! We are trying to avoid surgery she needs to cooperate!!

Lizzy saw DR.Hough today for the very last time today. He told her she needed to wear her knee immobilizers , Hand splints, elbow splints( when she gets them) and get in her stander.. He calls her "his miracle."  That is where we get the our slogan. " We believe in miracles because we live with one!"
She came home and guess what? She did not fight me putting her hand splints on and her knee immobilizers on!!  I saw him too. Probably, going to cost me a small fortune paying his bill but he gave me a shot that will get me through the next 4-6 months with out pain in my thumb and my allergies. The only problem is my appetite will insatiable, I will be over emotional( Imagine that) my face will be beet red for about a week, I will not sleep for a few days but not to have pain it is worth it!! It will help my back also. So, weighing out the side effects compared to pain I will take the side effects!! So, I guess I will remain red faced, fat and emotional for awhile longer.
It will be so sad him leaving. Breaks my heart.

Lizzy is sitting here singing county to the show on TV. She loves country. She was on her computer heard Kid Rock shut her computer off and said okay" I am done I want to watch TV. When she was at the MDA Telethon a few years ago when she was the Good Will Ambassador for central IL and  getting a treatment with her silk pjs on she heard Kid Rock on the TV at the hotel and was so engrossed in watching him. She loves to sing so much. She is watching him and has not moved a muscle!! Its like she is in a trance.

Well, they have finally set the date for Elizabeth's Benefit. The committee has agreed on October 23 at the Crystal Palace in Pontiac,IL  Kids benefit  part starts at 2pm . Many things going on.  the benefit is from 2pm -1am then they are doing a dinner , 50/50 drawing, Auction etc. The donations from local businesses have been rolling in. Its amazing!! There will be a country band and this is going be so great! I am so excited  its going to happen!! This benefit will help so much with all the things Lizzy needs so badly and help with the doctor visits!!

Thanking for keeping  updated on us!!

"We believe in miracles because we live with one!"
www.our-sma-angels.com/elizabeth

Living with Spinal Muscular Atrophy - Expectations

 I was talking to a good friend today and we were discussing gene therapy. We were discussing our expectations of the treatment for the kids that are not newly diagnosed. The older kids. We know its not the cure for older kids but it will enhance their quality of life. He wants to see his daughter that is a type 1 ( like Lizzy) be able to sit up and be able not to have to use the bipap. My expectations for Lizzy are that she able to sit up in her power chair all day and eat via g-tube. Sounds like small things to the general public but.... to us these would be HUGE gains.
Do I think Embryonic stems cells will cure SMA? I never believed in it .I do believe in Gene therapy. Yes, I do. I believe it will help so many kids and many other diseases. I was a listener I have never ever said I was a believer in Embryonic stem cells as a cure for SMA.

Lots of negative things being written about gene therapy. Please continue reading . This was posted by a good friend of mine on His facebook wall. Its very informative and helps you understand what is going on. I had to share this:

Here is the article that was posted from Slate: 

http://www.slate.com/id/2264401/pagenum/all/

It comes on attack at many levels showing failure, but if anything we have learned that science takes time, patience and hard work. This article was written not by a researcher but by a journalist. The Author of this article was Emily Yoffe.

She was criticized by The Daily Howler for writing about a theory based largely on numerical evidence despite having recently written an article about herself titled "The Math Moron" in which she revealed that she tested at a first-grade level in mathematics.

In regards to SMA I think it is preferable to stick to scientific articles regarding the state of research Here is a well written scientific article posted by the Howard Hughes Medical Institue:

http://www.hhmi.org/news/jessell20080725.html

This article clearly shows the complexity of Embryonic Stem Cell research in the area of Motor Neurons. The body is not made up of just 1 generic Motor Neuron but hundreds of specific types of motor neurons that need HOX genes and FOXp1 to make the vast array of Motor Neurons. A science that is still in its beginning stages. Once these are figured out the next step is to  figure out how to "rewire" the circuitry in the human body. Each of these Specific Motor Neurons Control different types of  muscles. We have yet to prove that we are capable of innervating a motor neuron. To make a full signal between spine and muscle. We are years away from making this a viable treatment for our community. This is an important field and the research must continue and improve over the coming years.

For the Gene Therapy it is a much more immediate venture. There are questions on the "window" of treatment. These questions can only be answered via clinical trial. There is so much unknown about the motor neurons that it is impossible to answer. If the motor neurons are dormant then quite possibly they can be revived using the Gene Therapy. If there is a motor neuron loss then these will have to be replaced. A typical non-sma person will loose 30-40 percent of their motor neurons over the course of their lifetime. Yet they continue to ambulate in later years.The hope is that even if there has been a loss, the remaining motor neurons can be strengthened from the current state they are in. A realistic hope is that someone like Sophia may be able to breath on their own without mechanical assistance or possibly sit up. That is realistic. To think that she is going to be "normal" and run around like other kids is probably not. So many other things have happened in her body that other therapies and treatments would certainly need to be done. ie hip dysplasia. The Gene Therapy has shown the greatest results to date on the SMA type 1 mouse model. Far superior to any other drugs or therapies. In addition the results have been extremely well in larger animal studies which are much closer to humans. Lastly these results have been repeated by 3 different independent  labs using similar approaches. These findings are nothing short of remarkable. When information is given out by researchers it is important to understand about their backgrounds. The Burgess Labs at OSU have been responsible for:

1. The Carrier Screening test for SMA

2. The Genetic Diagnostic Test for SMA

3. The original SMA mouse model (it is still the most popular mouse model used in SMA research)

These researchers have an incredible understanding of Spinal Muscular Atrophy and have already made significant contributions to the advancement of our disease

I have received 2 quotes from these researchers regarding their take on the posted article:

"We have been asked to comment on the story "The Medical Revolution: Where are the Cures".  Indeed there have been promises in the field of biomedical sciences that have offered cures within 5 to 10 years.  There is a growing list of failures based on those promises as this article highlights.  To counter, medical research and understanding of complex diseases have expanded exponentially based on these studies.  What these failed studies have shown remarkably clear is that diseases such as Parkinson's, Alzheimer's and Huntington's are quite complex and that a cure may not be as simple as taking a miracle pill.  One may say that this research has been a waste, but if one looks at drugs, procedures and therapies that have been developed based on the research, one can see advances to patient health.  For example, there are new procedures in Parkinson's Disease that counter the disease for many years. Additionally, more potent drugs have been developed that control the disease as well.  Parkinson's has not been cured, but there are new procedures and drugs that have made significant changes to the disease.  Certainly more work needs to be done as Parkinson's patient's continue to experience suffering due to their disease.  An outstanding article from Time Magazine gives a clear look at the development of heart transplantation, where the field has made outstanding advancements.

see:     http://www.time.com/time/health/article/0,8599,1939493,00.html

We are currently moving a translational gene therapy program forward for Spinal Muscular Atrophy.  The results in our pre-clinical studies have been very promising.  This has led us to rapidly, yet carefully advance studies to larger species to evaluate safety.  We have assembled a working group of other scientists and clinicians that are collaborating to move this experimental therapeutic forward.  We are actively moving the program to approach the regulatory agencies including the Food and Drug Administration.  Based on our pre-clinical studies for efficacy and safety, we are encouraged that the therapy is safe, and targets the cells (motor neurons) that we are intending.  The SMA community and us realize that this is an experimental therapy and will be tested first for safety and evidence for efficacy  in  small groups of human studies which is the translational process that any drug, therapy or procedure moves through.  Everyone shares in our hope that therapies to improve the life of SMA patients will be developed and we remain committed to working to advance our studies.-Dr. Brian Kaspar

The Medical Revolution: Where are the Cures".  

The article describes set backs that have occurred in particular in the field of gene therapy and stem cells. It is not a surprise that there will be set backs in the development of any new therapies. However this should be placed in the context of more conventional  therapies such as drugs also not  being cures or having major impacts on the diseases mentioned.  This begs the question as to what therapies should be followed surely it is the lessons we learned from the approaches and whether  the problems can be resolved that is critical. In the case of gene therapy a number of issues have been resolved with the AAV vectors the true test is when it is effective in a clinical trial.  What are the issues first it appears wise to focus on a treatment rather than a complete cure as this is more likely to be achievable.  The author mentions a series of disease but there are a number of differences in the cases presented. In the case of Parkinson’s for instance the first question which arises is the similarity between genetic forms of the disease and sporadic cases is the defect and the components to be fixed the same in all cases? We really cannot be sure and it is most often the case that the therapy is tested in a genetic model. So in the case of spinal muscular atrophy it is clear that reduced levels of SMN cause the disorder with milder patient having more SMN. So both in the mice model of SMA and in humans reduced SMN levels cause SMA. Therefore the same thing is being tested in mice and eventually in man.  However an important consideration in SMA therapeutics is when the SMN levels need to be increased to reverse SMA if the clinical trial design differs from what is tested in mice then you might get different results.  What we know for the relative severe SMA mice is that early postnatal introduction of SMN has a major impact on the survival of the SMA mice. So how does SMA fit into the landscape of the article? First it is clear that the genetics SMA is an advantage in that you know the cases you will be treating are due to reduced SMN, second the remarkable development of Adeno Asscoiated vectors which can get to the required target clearly resolves the delivery issue at least in mice (The AAV vector can also target the required cells in larger animals), third the treatment shows efficacy in the SMA animal model when delivered early indeed gene therapy has been the most effective treatment in these animals to date.  In SMA we have three major therapeutic avenues based around increasing SMN  1) drugs that stimulate production of SMN from SMN2 we should encourage better drugs that stimulate a 3 fold increase in SMN levels,  Antisense oligonucleotides that encourage SMN2 to produce sufficient SMN but are more difficult to deliver to the required cells, and AAV gene therapy.  We are actively pushing forward with the Kaspar laboratory  in moving the proposing gene therapy approach to clinical trials. Until one or even better more than one of these approaches works in SMA patients we need to push forward with these potential treatments  and develop them further using any failures that might occur to find the method of therapy that does work. -DR. Arthur Burghes

We believe in these researchers and the contributions they have made and continue to make for our community. We will continue to educate our community and provide you with the scientific research that is happening regardless of the politics. I remain very optimistic of the real promise that is truly right around the corner.

"We believe in miracle because we live with one!!"

www.our-sma-angels.com/elizabeth

Living with Spinal Muscular Atrophy- "Remembering John Wayne"

Sleep is not something I get  a lot of . I think I have averaged 5 hours sleep a night for the past 7 years. So, last night after Lizzy's treatments, stretches ,prayers and getting her all set up for her beauty sleep I tried to go to sleep but as usual my mind was not letting me. Watching  all about  wedding cakes and then flipping through the channels I found a John Wayne movie. I was excited. I used to watch John Wayne movies when I was a kid. John Wayne reminds me of my Grandpa Reed who passed away many years ago. I miss him so much and and Grandma Reed. I loved being with them as a kid. My grandpa used to shake his head every time I got myself into trouble while staying with them. He used to call me a "Pistol" . I used to ride horses, tinker around in the machine shed, help mow , gather eggs and feed the chickens etc. The smell of coffee and bacon used to linger in the morning air when I would wake up at their house. I love that time in my life. Wow, time does fly by. Wish I could go back if even for an hour or so.

Its been a good week-end. Quiet hardly no phone calls every-one gone Saturday and mostly today. Just Lizzy and I . Its been peaceful. It was back to HOT weather. Loved the weather last week. Too good to be true/

Dana had to drop Reed back off at the base and she lost it. She cried most of the way home from Kentucky. I know it hurts me too he is so far away and we are not able to talk to him or see him when ever we want. Dana will be okay. She is lot like her Mama. Shedding tears used to be hard for us until are babies grew up. Seems like I shed more tears these past few months more than I ever had.
This week we see DR.Hough for the last time on Wednesday. I am sure I will shed more tears on that day too.
Things are changing fast.
I want to live where I enjoy the weather and Lizzy can enjoying going outside almost every day. Where that is..... far away from here.
I was told today by my stepmother if I move away she will sell my inheritance!!  She said she was at a sale today and she could  get big bucks for her China Cabinet that I have always wanted . That does not count what was inside!! LOL  I can not believe she said that!!
Every thing is back to normal  almost.
We are proud of you Reed Michael Huette.
 I need to go find another John Wayne movie.
"We believe in miracles because we live with one!"
www.our-sma-angels.com/elizabeth