Living with Spinal Muscular Atrophy - I am Thankful for....

Thanksgiving is in a week. Making my list here of some top favorite things I am thankful for. I am thankful for my beautiful seven year old miracle granddaughter Elizabeth,my grandson Corbyn for making me laugh because he is so darn cute, my Caitlyn, my Reed Michael,my "mouthy"  Rachael ,my "brown eyed" Robert Allan. I am thankful  for my beautiful kids, my cabby wonderful husband , my family and my wonderful friends. Oh and cheese cake..... I love cheese cake.

Its been heck of  a day so I am updating. As usual on WED (as well Monday and Friday)  Lizzy and I am home alone. The phone starts ringing this morning and its my mother. She is getting up there in years and it seems today she was feeling really bad. She was emotional and crying non-stop. She was in so much pain with her legs. She says I just can not do it anymore. Talk about a huge splash of water in my face as I was bathing Lizzy. I am like okay mom calm down. What is going on? She tells me where she is hurting and how she can not stop crying , She wants me over there now to help her. What to do here? I can not help here.  I have Lizzy here alone, no one is in town today and I have no car. Not that I would travel even across town with Lizzy alone but I would. if I had to. My mind is thinking a mile a minute.... What to do  hmmmm How about some reverse ..... Psychology...  Using my college background for a change, Okay, Mom remember when I was a new mom and got all stressed out you would say" Go wash your face go soak in the tub bath you will feel so much better!!" I said.  it works liked a charm every time, Making her feel like a mom again was the answer..... Low and behold it worked!! 

I made some calls today and I think I found an agency to help mom a few days a week with some light cooking, vacuuming. taking her to doctors appts  etc. She agreed!! Oh my.... guilt has been lifted from my heart. Thank you God. I do all Lizzy's care and I do not have time to take care if my mom too. Not that I would not want to help I just can not at this time in my life. My other 4 siblings of my mothers children live out of state or out of the country so I am now making this decision. The company I found does FBI checks on all their employees and is bonded.  Sounds like just what we need!! My dear siblings " Bite my hiney" You ;left me here alone to deal with this I am doing as I see fit. If you don't like it get you hineys home and HELP. My plate is full thank you very much. Mom is not going to around forever and saying you can not afford to come back home to help is a crock. I love you guys but hey... you have not been here. 

Lizzy has some sinus drainage  but doing great. I still have her bipap back up rate slightly up to 26. Just to get her some extra support at night.  She is doing okay though. She is a great kid. 

My life changed the day she was diagnosed. I think God put her with me so we could make a difference. I love her spunk.  I lover her determination to succeed. I love her so much it hurts sometimes. She taught me all about life and its true meaning. 

Go hug someone today. Some one you care about to let them know you care. 

Call your Mother, or your Dad.  Just tell them YOU......care about who brought you into this world. 

" We believe in miracles because we live with one"

www.our-sma-angels.com/elizabeth 

Living with Spinal Muscular Atrophy - Why?

Lizzy lost 3 teeth in two days!! Two last night and one today. One more to go and we will have all the loose ones gone!!
It has turned colder here again.  Not even ready for it. Then, Thanksgiving not too far away and CHRISTMAS. Oh my where has the time gone?

I was on the phone the other day with the Mom that lost the little baby Grant a on Lizzy's birthday. How is it I feel her pain? How is it I feel connected to her?  Its tears my heart apart just thinking about what happened to this baby. To know we were so close yet so far away. I could of helped them so much. if I had known. I do not understand why this happened to them.

I never understand the why with SMA. Why is it that with this disease doctors in our area and many area across the globe do not want to deal with it?  Why are some doctors still refusing to treat SMA and giving parents the same diagnosis as we were given for Lizzy? Why are so many trying to stop the research in gene therapy? Is it the drug companies wanting more money? Is it that they do not want treatment? We all NEED to start paying close attention what is going on in The SMA World. What is so hard about getting these kids  the treatment they need to help their quality of living? I do not know if SMA will ever be cured but if US will not allow kids to get treatment here we will find some way to go out of the country to get it. 

Makes no sense to me why we having these doctors are not wanting to help these kids. Some SMA organizations are fighting against the gene therapy. Why, after we have come so far? These people need to look into their own cold black hearts and ask themselves why they would not want to help an infant or a child. Why are they being so cruel? Why is it so political? 

God help these people causing so much controversy over the most promising treatment.
Look in to a child eyes with SMA and tell them you do not want to help them. Tell them you do not want a cure.

I do not think we will be going to the FSMA conference this year. We just can not afford the cost to get there and all the registration fees. Sounds like it will be a grand affair. We have to look at the big picture. Our small van with all Lizzy's stuff is just not big enough to drive that far anymore. She has grown do much and her Dad and Grandfather also want to go this year.We got one adult registration fee waved but then you have 3 other adults and Lizzy we have to pay out of pocket for. Then the motel room. As much as we want so much to attend for Lizzy's sake I do not think we will be able to swing it based on our current income. We shall see. Lizzy's heart will be broken if we do not go but maybe we can do a compromise. There is always CCK  in the Spring or maybe just a families get together somewhere.

We just heard one of Lizzy closest friends Drew was in the hospital recently. Prayers to you Drew!! He is home now but still not feeling himself. Prayers to Larkin Bish as she is not doing well and in the hospital. I talked to Nana Barb and Gina Bish yesterday. Please add theses kids to your prayers. The power of prayer is so strong. You can feel the chain around the world filled prayers for these beautiful kids.

Another child with SMA earned her wings in Peoria. How more babies /kids will die before these doctors will listen to us?
R.I.P. Rebeckah Marie Courdt (March 5, 2007 – November 14, 2010

Fly high little princess!!  fly free of SMA!!
Prayers to the family of Rebeckah to be able to get though the days ahead.
Breaks my heart.


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

Living with SMA - I have a voice!

I have my voice back!!  I am excited!! Its been almost two weeks with out a voice.  I am feeling a lot better today.
I feel like I have been lost for two weeks!! Lizzy has finally calmed down today and does not freak out when I go out of the room for a second. Not sure what is up with that one. I have taken totally care of her myself since before her illness then mine. No help at all. Amazing,  how long recovery takes when you yourself  are sick taking care of another sick and not resting at all.  Its been very stressful last few weeks. No one understands why  I have taken so long to recover. I got myself on some antibiotics and this is day 5 and Success!!  My sinuses have been bleeding also.  My gosh its been a  two week long nightmare!!  Every one kept saying to me I am so cranky........... well yeah..... HELLO any one want to help me with Lizzy or with other things around here? That does not happen sorry to say. My daughter Jess gave me a lecture on taking care of myself.... Yeah, okay Jess...... I have not even covered my gray/white hair in months because I do not have the time to do that. Jess says ," Mom you are  getting so much white hair. " In said ( LOL) I have not colored it because I want everyone to see what they have done to me!!" LOL  I just had to add that comment........ to her mine discussion!!  She does not come by much since she moved out of town.  Yeah, feeling sorry for myself you got it.
Today , I am making out my bills and mailing them. Getting caught up on laundry, mailing out a few packages, reading my 500+ emails that I would only skim through and see which ones I needed to reply to quickly Some days I did not have have the energy to get online.. Busy huh? Its amazing what does not get done when you are sick . I have tried so hard to so much  more this past few weeks buts its been impossible for me to do anything more than what I have done. The great thing is Lizzy is doing great an that is the man thing. I was thinking what would happen to her if something happened to me. Tears would well up in my eyes.I really do not want think about that. I think God will keep me around as long as I am needed. My bond and  commitment to Elizabeth is very strong. . My bond is strong to all the families I have met , know and help.

We have gotten another BM donor for Elizabeth and we are very excited. Soon as we lose a donor another mom contacts us. Talk about Divine intervention!! Breast milk has helped Lizzy so much!!

Many prayers for Lizzy's friend Drew. He will have surgery soon for his hip. He and his family have a very special place in our hearts. A great family that we love spending time with.
Prayers to Mary Nelson she is still recovering. Prayers to Kaitlyn in Canada and prayers to all the babies/kids that are sick or recovering.

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

Living with Spinal Muscular Atrophy - Inspired By Lizzy Boutique hair bows and NIH SMA Workshop

My boutique bows I have made have been quite a success with fundraisers to help with Lizzy's benefits .  I thought I would share some of my bows that will hopefully be on the HOPE and Light Ebay  auction. I am a bit late sending them but we have been very sick here. I did not want to send any nasty viruses to any kids. So my apology to the Millers for not getting them there on time.  Here are some I am donating to the Hope and Light fundraiser.  Where else can you get boutique Hair bows actually made with a grandmother's love?

I thought I would share this from my friend Vinny's facebook page 

by Vincent Gaynor on Saturday, November 6, 2010 at 11:02am

Thank you Vinny!! 

After scouring through 15 hrs or so of footage, I wanted to discuss some of the info that was presented at the NIH SMA Workshop. It is my humble opinion we as a community need to really start to listen, learn and pay more close attention to what is presented to us parents and families in the SMA community. We can no longer take opinions from any organizations, researchers or clinicians as gospel; but we must educate ourselves and take full responsibility to make educated decisions on the research ourselves. We must  look at the data to see if there is a significant life extension in the most severe mouse model and move forward from that point. If there is a significant extension of life, to then continue to move forward and conduct further safety and efficacy studies. If there is not a noticeable increase in life, or there are toxicity issues we must not continue to fund costly trials, rather move into other avenues until we do see a program that is worth funding. For our kids we do not have the time to continue a multiyear trial on a therapy that shows signs of very little hope from the beginning. A minute amount of the current known drugs on the market have been screened for SMN 2 up regulation. If a therapy is showing very little to no promise we must look at screening some of the overwhelming majority of other drugs that are currently available.

It is my opinion that using the term "Responders and Non-Responders" in description of a therapy can be inaccurate and misleading. After all, at this workshop the researchers discussed the vast differences, even amongst a small population within the same phenotype with exact same amount of SMN 2 copies. It was discussed how difficult it would be to see what actual benefit a therapy had since there is so much variation. Thus how can a therapy that showed little to no effect in the disease  mouse model then be correlated to humans and inferred to have responders and non-responders. There currently is no accurate mechanism that can decipher strengths and weaknesses. We must show results first in the mouse model.

At present the best tool we have as a community is the SMA type 1 mouse model to judge potential effectiveness of a therapy. It is not the end all be all of a particular treatment rather an important starting point to see if a therapy is promising enough to merit continued research in a program. I have heard presented that we should move away from the SMA type 1 mouse model as it is too severe. I totally and completely disagree with this notion. It is not the mouse model that is the problem it is the therapy. After all there are now 4 different completely independent labs that have shown significant extension of life in the mouse model in it's current state. The mouse model is severe, just like the disease in type 1 SMA. So if 4 different labs have been able to improve this model, than the model is effective and it shows the promise of those particular avenues of research. We should look for other therapies that can duplicate or improve upon the results these labs have seen.

The Stem Cells and the Gene Therapy were amongst all of the other programs that were discussed at this workshop. In my opinion the "false hopes" of the community regarding the stem cells can be attributed to not what assumptions parents have made rather what has been presented to them. I have never seen the stem cell program referred to anything other than "The Motor Neuron Replacement Program" or MNRP for short. What that title alone infers is that there is a replacement of motor neurons. A regenerative therapy. Yet at the workshop the lead researcher of the MNRP Hans Kierstead informed the audience that the motor neurons he has produced, do not innervate. They are incapable of producing the necessary signals between the spinal cord and the muscles. Rather these motor neurons could possibly offer Trophic support. Meaning they will act as a crutch to existing motor neurons. I have heard parent's being told "the Gene Therapy will only stop the SMA but the Stem Cells are going to Cure SMA". This statement was incorrect and was not substantiated by the lead researcher himself. It was stated that this therapy will be done in end stage patients. Type 1 patients who are not expected to live. Here is my issue with these statements. If the stem cells only possibly offer Trophic support, it does not make sense to move into a patient who in theory has lost most if not all of their motor neurons already. This therapy would have to be administered to presymptomatic or the earliest patients to be effective based on the data that was presented. The researcher also stated that we are many years away from having the capabilities of actually replacing motor neurons. There was zero increase in the lifespan of the type 1 mouse model in this program.

As far as the Gene Therapy when administered early on in the disease it showed a significant increase in the SMA type 1 mouse model. These early treated mice increased from the 15 day life expectancy to upwards of 400 day survival. A monumental improvement in the mouse model that has never been seen before in a viable treatment for SMA. The question is the window of opportunity to get into a patient effectively. In the mouse it was very early however in the non-human primate the motor neurons were targeted effectively from various ages all the way up to 3 years of age. Which maturity wise would correlate to a young child in humans. The difficulty of predicting how this will correlate to humans is that at present time there is not an SMA non-human primate. The only way to tell what actual benefit can be expected in our kids is via clinical trial. This will be a very important trial for our kids. Many questions will be answered in clinic. What is important to understand in theory is that if the Gene Therapy does not work in later type 1 because of significant motor neuron loss... then ANY drug to up-regulate SMN 2 will be ineffective. Based on the motor neuron loss theory; if you are transplanting SMN 1 and the motor neurons are not there, then any drug that up-regulates SMN 2, to mimic SMN 1,  but at a drastically diminished efficiency than the actual SMN 1, will not work either. It is like trying to put gas in a car with no engine. 

We must not rely on others to guide us, rather we must look at the data and let that be what we base our own opinions on regarding therapies for OUR children.

Here is the link for the NIH Workshop. To hear Dr Kaspar speak in his own words fast forward to around 3 hours and 45 minutes. To hear Dr Kierstead speak in his own words fast forward to 4 hours and 31 minutes.

Since the link is a changing link here is the link to all 15 hrs. Dr Kaspar and Dr Kierstead both are in part 3 at the above referenced times!

http://www.sonicfoundry.com/catalog/d99fb93d-76db-455f-8ec6-345d3a717e54.aspx

I am proud to say if you look at the sponsors of the NIH workshop under the logos of FSMA, Fight SMA, MDA and SMA Foundation you will see Miracle for Madison and The Sophia's Cure Foundation. B4SMA was also mentioned! 

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

www.our-sma-angels.com/elizabeth 

Living with Spinal Muscular Atrophy - Fighting illnesses, New doc and Mean people

Elizabeth is doing really well after a bad respiratory illness . Wish,  I could say the same for me. Its been a brutal last few weeks and I am still sick.  Sinus cleanse has been a daily ritual. My sinuses have been on fire it seems like. I still do not have much of a voice. I have hardly been on the phone or online. This illness has kicked my hiney.

We met Lizzy's new doctor. We really like her. She was with us for a few hours the other day just talking. I gave her lots of reading material. We also discussed how hard it is to get things you need in this area for medical needs. She impressed me on how she values life. She thinks we need to start a support group here. I am going to write a hand-out to give our doctor of all our resources  She was impressed with Elizabeth also. 

We had Lizzy's IEP and it went well. Thank goodness!! 

Now the kicker.... looks like we may not be able to go the the FSMA conference in Orlando this year. I do not think we can swing it but I am praying for a miracle for Lizzy's sake.. This is Lizzy's time to shine. This is something she looks forward to do every year now  to see her friends and deserves be a part of. I seriously think the reason we could not get much help with going this year is because of me. I was treated very badly in CA  after the conference by a very important person from FSMA. I was yelled at and totally intimidated in front of others in the hallway before a meeting with DR. Wang . I was suppose to speak at the luncheon minutes later. This happened  in front of Elizabeth also. Totally uncalled for . Only because I wanted to thank another organization for helping us with  helping the trial Elizabeth was in and for putting on the luncheon. After, the end of the intimidation session with this person. I told him that "this is so wrong... to be this way and "You all need to work together for the kids!". I could not speak very well at the luncheon because I was so very upset after that. . This happened to me , yes me !! Lizzy's Nina who tries to help everyone she can learn about SMA.  I have played this out in my head many times since this happened. At no time did I do anything cause such bad treatment. I knew then we would no be going to Orlando for the conference because of what happened . What happened to me was so wrong!!  Mean people JUST SUCK! 

Lizzy shines any way. She is our miracle. We will go back to Disney some how.. I know it will break her heart if we do not go thois June because she says every day " She can not wait to go for the conference at Disney."   Maybe we will find a way for her to go but its just so wrong what happened to me. 

Paul had three calls from jobs this week but they have not called back for an interview. 

Please say a few prayers for us . I need some to get me better and he needs a job soon!!  

Many prayers for Mary Nelson.

Lizzy also was serial casted this week.
We have been invited to two Christmas parties already!! The holiday season is arriving fast!!  

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

www.our-sma-angels.com/elizabeth