Hello and thanks for visiting “Jennifer’s World”!

My name is Jennifer Denise Gaudreau and on July 8^th, 2002, I was diagnosed with Spinal Muscular Atrophy or SMA for short.  My Mom and Dad had never heard of this disease but sure have learned a lot about it since I was diagnosed.  Here is my story!

When Mom and Dad found out that I was in Mommy’s tummy, they were very very happy and my big sister Michelle really wasn’t sure what to think.  Mom says that Michelle always wanted a baby “sister” so I guess she got lucky!  While I was in Mommy’s tummy, everything went great and I was born on September 17, 2001.  The same day as my Dad, except he was born a “LONG” time ago!!  I weighed 7 pounds and 10 ounces and was very bright and alert!

The first couple of months after I was born, everything was going along fine.  I learned how to roll from my belly to my back and then from my back to my belly.   I could pick up my head when I was on my belly and even started to push myself up with my arms “a little”!  But then when I was around four or five months old, things started to go backwards.  First it started out slowly, I started to get my arms or legs stuck under me when I tried to roll over.  My Mom and Dad weren’t overly concerned but noticed a couple of slight changes.  At my six month check up my doctor asked my Mom if I had been born breach because my legs were kind of in a “frog” position.  My Mom said no and that I was delivered by “C” section.  I think that is where the doctors cut my Mom’s tummy and yanked me out! Ouch!  Anyways, no one was really concerned at that time.  But then things started to change really fast.  I stopped rolling over both ways completely and then I couldn’t pick up my head any more and then my Mom and Dad noticed that I was getting really weak in my arms and shoulders.  They say it feels like I’m going to slip right out of their hands when they try to pick me up.  Since my older sister Michelle did a lot of things early my parents started to double-check everything that she had done and when she had done it.  Michelle was walking just after she was nine months old but now my parents noticed that my legs didn’t do anything, and that I never crawled.  So at my nine month check up on June 17^th, 2002, my Mom brought me to the doctor’s office for a check up and she told my doctor, “Dr. Pergament”, that a lot of things had changed and that she and my Dad were very concerned.  Dr. “P” checked me out pretty good and asked my Mom lots of questions and finally told my Mom, that he was very concerned.  My Mom asked him straight out, “what are you thinking”?  And Dr. “P” said, “I believe it is one of two things”.  At first he said “Rhett’s Syndrome” which he really didn’t think it was and then he said “Werdnig Hoffman’s Disease”.  He explained to my Mom that both were very very serious and that we needed to go see a colleague of his at Children’s Floating Hospital in Boston.  Mom then called Dad and told him that Dr. “P” thought something was really wrong.  Dad asked Mom what Dr. “P” thought it was but Mom couldn’t remember “Werdnig Hoffman”.  They were both really scared.

So anyway, Dr. “P” set up an appointment on Tuesday June 18^th, the next day, for us to see Dr. Rossman.  There Dr. Rossman checked me out pretty good.  He did some blood work to rule out muscle diseases.  Wednesday my Mom, Dad and I, went back to the hospital for results.  They were normal so no problem there.  Dr. Rossman did some more testwork on Thursday and then scheduled an MRI on Friday.  Mom and Dad couldn’t even remember what Dr. “P” had told them he thought was wrong.  Mom kept calling it “Wolfgang Puck” instead of “Werdnig Hoffman”.  So on Friday, the Dr’s put me to sleep and strapped me down so I wouldn’t move during my MRI.  Mom and Dad didn’t know why the test was being done, so Mom being the detective she is found my chart in the room where the Dr’s had put me to sleep and asked Dad, “what does R/O mean”?  Dad said it means, “rule out”.  Then Mom said they were checking to see if I had a spinal tumor, my chart said they wanted to “R/O a spinal tumor”.  Dr. Rossman thought that maybe a tumor was causing my “floppiness”.  Later Mom and Dad would find out that “floppiness” is one of the signs of SMA.  It is called “hypotonia”.  We were in the hospital for pretty much the whole day on Friday.  We got home around 6PM that night after picking up my Sister Michelle from my Auntie’s house. 

When we walked through the door there was a message from Dr. Rossman telling us that the results from the MRI had been read, and that things looked okay.  Dr. Rossman wanted to see us on Monday for an EMG and than a muscle biopsy.  After a couple of phone calls over the weekend to Dr. Rossman from my Mom and Dad, Dr. Rossman decided that we should meet with him on Monday and that he would explain everything to us then, he was pretty sure he knew what was wrong and that an EMG and muscle biopsy probably wouldn’t be necessary.  So Monday, June 24^th, 2002, Mom, Dad and I went to see Dr. Rossman.  He told us that he believed that I had Spinal Muscular Atrophy, a progressive neuromuscular disease.  He said that another simple blood test would be able to tell but that it takes three weeks to get the results.  So I had to have another sample of blood drawn.  Mom, Dad and I left the hospital after they took some more blood from me and we picked up my big sister Michelle and went home.  Mom went “on-line” to read up and learn about SMA and came to the realization that this is what I had, just from surfing the net.  Everything she read was identical to what I had.  Then two weeks later on July 8^th, 2002, my Mom got a phone call from the hospital.  It was Dr. Rossman and he told my Mom over the phone that the results came back positive.  Mom called Dad and told him the news.  Dad came home right away from work.  Dr. Rossman wanted to meet with my Mom and Dad the next day.  So the next day, Mom and Dad met with Dr. Rossman and he explained to them once again that the results came back positive and that I had Spinal Muscular Atrophy.  He told my Mom and Dad that he believed I was a borderline Type I/II.  He said that people diagnosed with SMA have different levels or degrees and that progression is different in each person.  He explained to Mom and Dad that SMA is the number one (#1) genetic of children under the age of two.  He said that because I was still so young and that the progression was occurring relatively fast at that time that he wasn’t sure if I would lose my ability to swallow and that only time would tell.  Since that day, our lives have forever changed. 

I am lucky because I have met a lot of great people so far in my life, probably more great people than most meet in a lifetime and for that I’m really thankful.  But most of all, I am as equally lucky and thankful for my awesome family.  Without them, I don’t know where we would be.  They all helped us out so much when I was finding out what was wrong and have been by our side even more since then.  There’s Grammie & Papa G., Grandma L, Auntie Chrissy & Uncle Myles, Auntie Ei & Uncle Mike, Auntie Jo & Uncle Tom.  There’s Uncle Pete, Auntie Pauline, Uncle Guy & Auntie Jane, Auntie Diane & Uncle Chris, Auntie Jeanne & Uncle Ed, and Uncle Ed & Auntie Jess.  Then there are all my cousins:  Adam, Joe, Jeff, Josh, Seth, Kristen, John, Matt, Katie, Pam, Eric, Silas, Camille, Elizabeth, Patrick, Kevin, Ryan and Amanda.  I think Amanda loves me the most though; she gives me way too many hugs and kisses!!

So now my days are filled with lots of different things.  If you want to learn more about me or see how I’m doing, check out my journal.  Mom and Dad try to keep up with current information and want to let everyone know how I’m doing.  We’ll keep you posted there. 

Thanks for taking some time to read my story!

Love, “Jennifer”