I guess the story I want to
tell is what happened to us.
Elizabeth was born Sept.
29.2003. When she was getting cleaned off by the nurse and looked up
at me when she heard my voice. That is one of the last times
Elizabeth has not struggled to hold her head up. I knew when she
looked up at me that she and I would have a special bond forever.
Christen Elizabeth's Mom was 20
when she had Elizabeth. Her boyfriend was not secure in the real job
world. So, she decided it best to stay living with her father and I
and still does. I happen to be off work due to a serious back injury
since Elizabeth was 2 weeks old. That is the first time in many
years I have not worked. So, I watched Elizabeth every day and
still do. I knew after a month there was something wrong but I was
told I was overreacting and not all kids are born doing the things
my kids and my other grandchildren at birth. Like holding their
heads up and putting weight in their feet. I kept working with
Elizabeth every day. She kept her hands turned inwards and would not
use her muscles at all. I finally got her to hold a rattle
correctly. I insisted that Christen keep on the doctor about this.
She did and he said that not all kids are alike and be patient.
Finally by five months he listened and had Elizabeth is PT twice a
week. The Physical Therapist knew there was a problem. So she in
turn had the doctor have Elizabeth referred to a pediatric
specialist. He ordered genetic testing and on May 11, 2004, the day
the results were in is the day my life changed forever.
The specialist told Christen to
take her daughter home and love her because she would most likely
die before age 1. I screamed at the top of my lungs, dropped to my
knees and thought that the man had to be crazy. I cried for a few
days but..... never in front of Elizabeth. Every one was still
grieving and I was on a mission at the point. I was going to save
her somehow! With in two days of Elizabeth's diagnose I was on the
Internet finding everything out I could. People from FSMA called
and told us how sorry they were after we sent info in about
Elizabeth. They said they understand what we are going through. They
never have called back. Never gave us any info on clinical trials
but said they are close to a cure. The parents that contacted us
through FSMA were all from IL I found a website that was talking
about a clinical study at Stanford for Type 1 SMA. I cornered
Christen in the tub and I said "Listen Christen its time to fight
for your daughters life and stop avoiding her" I had kept Elizabeth
in my room watching Disney movies when I was not on the Internet
searching for answers. I had to keep her away from all the crying
and negativity. I was stronger at the point in my life because I
knew Elizabeth needed me to be a strong and fight for her life. I
had Christen call DR. Wang and leave a message. He called us
back that evening! He was so informative. He told me about his
research and how he had stopped the progression of disease in lab
dishes with a drug called hydroxyurea Oh my God this man was a
saint!! He might save my Elizabeth's life!! I told Christen she had
a choice to take Elizabeth with me to Stanford or I was taking her
We got all the info and was
signed up for the study. I had my profit sharing money from my job I
had just had to quit due to my back injury. I was able to help pay
for our trips. On June 10 we were on our way to Chicago to get a
plane to take us to Stanford, CA.
Elizabeth has had a few
problems with a few illnesses but she is a strong type 1.
She has lost a lot of her
swallow but with the help from Laura Stants and a lot of the mothers
from SMA Support Elizabeth is doing well!! Laura has done so much.
She gave us on loan the correct BiPap, a tiger 2000 stroller, a
pulse ox, tolerex packets and tons of info. She was my angel during
our time of need. She even took the info and pictures a gave her and
made Elizabeth a website. Elizabeth's website has also given other
newly diagnosed parents hope. MJ Purk just recently updated the
Elizabeth's web-site for her!! MJ we love you!!!!
I finally got an amino acid
diet figured out for Elizabeth that has done great after a few
slight changes. I found breast milk with the tolerex makes her
thrive. So. at almost 3 still gets breast milk from breast bank.
The breast bank now is from Indiana. She used to get it from Ohio.
We also see Dr. Mary Schroth in
Madison. WI. She has dedicated her life helping children with SMA. I
also got that info from Laura Stants. Dr.Schroth did a swallow study
on Elizabeth and found out she was silently aspirating. So Elizabeth
had to have a g-tube that she got July 29th. We had to go where
doctors knew how to take care of Elizabeth. Here in Pontiac, IL our
doctor had one patient 10 years ago that lived to be 3 months old
with SMA Type and he knows about the disease but did not have the
experience. He has been learning a lot from Elizabeth and all her
other doctors in Madison and Dr. Wang from Stanford. There are not
any doctors in this area that know much about these precious kids.
This disease is an awful
disease but it can be treated. It should never be ignored. Elizabeth
is so special and so happy. It just makes nothing in life that bad
knowing all she has gone through and she still is a happy baby. So
piddly things just aren't important any more. Elizabeth is my main
concern and her needs.
The only problem is that with
me not working due to my back injury we cannot afford a whole lot
but I have tons of love and the best care ever to give my Lizzy .
I just think if there was more
funding for SMA research that this disease that doctors would become
more aware on how to treat this disease.
This is a short version of my
story. Elizabeth is doing well now and that is all that counts. We
do not know if its the medicine from the clinical trial or the fact
we have not given up. Maybe its both. I am sure its got to do with
love and the help from other parents too but I thank God we have
Elizabeth and wish more doctors knew about this disease.
For the specialist to tell us
there was nothing we can do for her was very wrong. She turns 3 year
old 9/ 29/2006. She beat the odds this far. Eighty percent of these
babies die before a year !! We have made it this far and will
continue to do every thing we can do for Elizabeth to keep her well
and happy. She is a beautiful child and I will never give up trying
to do everything I find out there to help her.
Elizabeth's mission in this
life is to help save lives by helping with the clinical trial to
help other babies born with SMA.