Living with Spinal Muscular Atrophy - Finding ways to help your child

I decided  that in 2011 I am going to focus on helping families find ways to care for their SMA type 1s babies and children. Besides taking (as usual) the best possible care of Elizabeth.  I want to add to my blog about the care that it takes to keep a child with SMA type 1 healthy.  These are my opinions only .

Finding a "Cure" would be a dream come true but in reality many babies and children are dying because families are unaware of ways to help their baby that were just diagnosed. That is what many organizations are doing funding,  research for a cure. We all want a cure but how about these kids that can not even get a bipap or parents are not told there are noninvasive ways to save your child, The letters I receive from parents, aunts and uncles hurt my heart knowing how these parents struggle to get what they need to help these babies/children survive. .We need to take care of the kids that are here and are living NOW!!. Many doctors nation wide do not think parents have what it takes to do the care that is needed on a daily basis. In fact, many parents and caregivers do have the" inner strength" that it takes to take care of these beautiful children. The doctors give up on many of these kids right after diagnosis. They do not research and do not know there are doctors out there like DR.Mary Schroth in Madison,WI at American Family Children's hospital. Many parents believe in their doctors and their opinions and do not research SMA. We are taught at a very early age to trust our doctors and not question them . These kids can live with proper respiratory care . That is the main thing right have diagnosis. A bipap, humidifier and pulse ox can help them get stronger.  Then,  to be proactive in their care. Not to give in and take the bipap off because the baby is crying. You have to remember you are saving their lives. Parents have to face also their child will need a g-tube very soon after diagnosis . A  type 1 starts losing their swallow very early. Many of us also incorporate many other therapies and a special diet in the daily routine. If you want to fight to save your child's life there are ways to do so.

So, word of warning here " I am out to help save as many babies and children as I can by giving the most vital info to help these kids stay healthy ". Stay tune in 2011.

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

www.our-sma-angels.com/elizabeth

Living with Spinal Muscular Atrophy - Loving the Season

Anticipation for the upcoming first school event Christmas party consumed Lizzy's ever thought the last few days.
Today, she went to the  Rotary Club's Christmas party at the Elks. The kids started coming in the room and Lizzy's eyes where huge as she could not believe she was actually taking part in this grand event where there was so many other kids. It was a party for "Special Kids" and they all were treated very special. The teachers all knew we "freak" around other kids and worry about her coming down with an illness. So, they did their part in keeping the other kids from hovering over her." Sigh of relief",  for Christen , Lizzy and I.
We sang some Christmas songs, ate Lizzy's "favorite lunch" Chicken tenders and french fries. Then, something quite magical happened there was a man in a red suit and his wife that made a "Grand" entrance and seated themselves down. The crowd all was so excited. The looks on the kid's faces were totally priceless. Each child's name was called and Santa gave them a gift on his lap. Lizzy included. Each child got a present they really wanted. I have to hand it to the Rotary Club they did a great job on the gifts. Not a sad look on a child's face and there was quite few kids there .Lizzy broke out in her "Red Blotches" because she was so excited.

This time if year is totally magical and full of a spiritual awareness and the season of love. Family and friends are so special that gives you a sense of inner peace. The newest snow left a sparkling blanket of seasonal magic to the whole neighborhood.
I have been baking up a storm . With the last winter blast we had this old drafty house flatten a batched of yeast dough  when I was making my coffee cakes. It was upsetting but that is typical for baking in the winter. I have a lot of baking to do as presents. With Paul's unemployment being cut off we need to save as much as we can this year. Not knowing how we are going to survive these upcoming months has consumed my waking thoughts these last few days. We just found out on WED that his unemployment extensions have run out. In the job world they call for phone interviews but that is as far as it goes. His diabetes has gotten worse also. He has very low sugar spells and we do not know what is going on. So,  he is disoriented and he turns gray. I pray we figure this out. He has a doctors appt with Lisa this next week the nurse practioner.   Please keep him in your prayers. Enough said about that. Its a time of the years we should be happy and not worry. I know easier said but I believe God will look out for us.
Prayers for Charlie. Charlie is sick!! Please add him to your prayer list!! He has never been sick like this at home before.
Many prayers for our friend Madison. Lizzy loves Madison and she has not been feeling well for a few months now. We love you Madison and have you in our prayers EVERY night. Our friend Kaitlyn in Canada has not been feeling well either for awhile so add her prayers also she has been in ours every night also.

Some of our good friends have made sure we will have a good Christmas this year and to have something like that to look forward makes you as" giddy" as a child. We have family too and that makes Christmas even more special. Lizzy is our Miracle and makes the season even more better, Corbyn makes it fun also. I am thankful for all my kids, grandkids , my siblings , parents , Mother inlaw and just everyone that in my life. I will miss my brother Rory this year as he will be in Kuwait this year and not in the states.

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

Snow Snow Snow!! Living with Spinal Muscular Atrophy

Lizzy is loving this snow!! She had a blast outside on Saturday. Until she went out in it she was asking all day to go out. She was concerned she did not match!! LOL Our Fashion conscious 7 year old.
She was yelling at her Mom saying" Faster Faster!". She was so excited. Then, when she came in she had been so excited and with the cold she was having some trouble talking. Extra coughs and she was perfectly fine.
She is so excited this year about Christmas she started singing Christmas carols shortly after Thanksgiving.

Lizzy has a teacher coming to the house twice a week now and is loving it. The school provided her with the clicker 5 program also today. She is so excited to have a teacher! All day before her teacher comes Lizzy is so hyper!!We really likes her teacher Becky. I actually have a baby monitor set up and I am in the next room. Shocked that I leave her side? I am. I did not think I could do that but I have. It was my decision .  So, far Lizzy lets me know if she has "bubbles". I never thought that day would come but it has.

Paul and my anniversary was yesterday. Thirty six years married to the same man. What is really sad is that he was gone all day helping Brandon do some things. I guess the older you get in the male mind sometimes its no big deal. I dropped a few tears here and there all day yesterday.  I was glad I didn't have to watch football but why was he not spending the day with me?  Too me it means a "Big deal". I have been through a lot with this man and I think celebrating is something we should of done. We used to take off and go shopping for 3 days and stay at a motel. I understand we do not have the money for that these days but to go some where would of been great. Its over with done. Time to go on to the new day. Thinking positive is something I try real hard at. Some days its harder than others. Is this instance in my life an "Eye Opener"? or is it just life as you grow old together? Hmmmm... That one will take some time to figure out. Yeah I know, "STAY POSITIVE" okay I will try

Its is bitter cold here right now!! Last year it was a cold here all winter. At least Lizzy got to go out at least once this year. I miss CA this time of year.

Elizabeth is doing quite well the older she gets. Her strength is quite remarkable.  I am so thankful she is doing so well. Patience is one thing she has none of though. Everything has to be right this second!! .

I love Christmas and that warm fuzzy feeling you get this time of year. You really are thankful for the friends and family you have.
Many Hugs and Happy Holidays!!

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

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