On this Memorial Day we should all take a moment to be grateful for all that our military do for us. Whether it be fallen heroes, vets, active duty, retired, reserves, whoever. You may or may not believe in what we are fighting for , but you should always believe in who is doing the fighting.
This weekend, we attend 2 going away/deployment cookouts for a friend of ours. Matt is in the reserves and has been called up to go to Iraq for 18 months. We will all miss him and offer all of our support for him, his wife Leah, and daughter Sofia. Please keep this family in your thoughts and prayers.
The cookouts were a blast! I have a chair that I take with me that is very lightweight and is easy for me to get in and out of. It also has a little fold out table on the side. My parents got it for me a couple of years ago and it has become a staple in my social life. I am able to take this chair to peoples houses or to parks and not have to worry about not having a seat that I can get up and down from. I saves me from tons of anxiety when invited places.
Courtney went to the cookout on Saturday as it was a family thing. She had an absolute blast! She got to play on a nice big swing set and there were lots of boys and girls for her to play with. We were there until 9pm and that was the latest she had ever been out! She kept running up to me and saying "it dark outside mom".
The cookout on Sunday was an adult only get together. That was tons of fun! The friends house we were at always offer up a good time! The one thing I am most excited about is I got to get in the hot tub and relax! I was so stoked that I was able to get in and out. It took 3 people to help, but we made it work! It was great! Well that's all I have for now. Here's a few pics of court playing at the cookout.
Monday, May 25, 2009
Sunday, May 17, 2009
Pics from the wedding!
Her are pics as promised!!
The back of Courtneys dress.
Look at those curls!
Could this be any cuter?
Tim and I.
Tim getting his drink on so he can do his speech!
The groom Wayne is beside him.
Courtney eating brocoli.
It is the ONLY veggie she will eat!
Family pic. We dont get these often.
I bribed her with Jelly Beans to get her down the aisle!
CHEESE!
Courtney and Mama.
Courtney and Daddy.
The back of Courtneys dress.
Look at those curls!
Could this be any cuter?
Tim and I.
Tim getting his drink on so he can do his speech!
The groom Wayne is beside him.
Courtney eating brocoli.
It is the ONLY veggie she will eat!
Family pic. We dont get these often.
I bribed her with Jelly Beans to get her down the aisle!
CHEESE!
Courtney and Mama.
Courtney and Daddy.
You are not alone. I am not alone.
A friend from high school whom I just recently regained contact with through face book, so graciously shared a story with me ( actually us) via a comment on a previous post. She reminded me of one of the main reasons why I wanted to start this blog. To let other young people, especially young mothers know, WE ARE NOT ALONE. I AM NOT ALONE.
For a while now I have been all over the Internet looking for support groups or something for young mothers with a disability. I have been unable to find anything really. It seems to me as if it is treated as a Taboo or something. I wanted to share my experiences so that when another young person out there finds them self feeling alone, they can do a web search and find me! I know I am only one person but if I have to live with this disease at least I can advocate to others that it can be done. Thank you LauraLee for sharing and I hope you do not mind me calling you out!
For a while now I have been all over the Internet looking for support groups or something for young mothers with a disability. I have been unable to find anything really. It seems to me as if it is treated as a Taboo or something. I wanted to share my experiences so that when another young person out there finds them self feeling alone, they can do a web search and find me! I know I am only one person but if I have to live with this disease at least I can advocate to others that it can be done. Thank you LauraLee for sharing and I hope you do not mind me calling you out!
Saturday, May 16, 2009
I hope you dance
WHEW! it has been a long day. We just got home at around 1045pm. Courtney was sooo freaking adorable and did such a good job. I will post a pic or two once I find my camera cord.
Tim was the best man and did such a wonderfull job. I was so proud of him. He did very well on the speech and ad libed really well. Everyone seemed to enjoy it.
Now, since this is a blog about my day to day life with Pompe, let me tell you the challenges I faced today. We arrived at the church and the Bride and half the bridesmaids had not arrived yet. After I got Court dressed I had to keep her occupied and within my sight longer than I had planned on having to. For the average person, not really a problem but for me, pretty dang tough.
The seats in the church were very low so I knew once I sat down, I would be down till the end. Threre would be no jumping up to chase the kid. Thankfully Mom and Dad were there to help.
When It was time to head to the reception, it was POURING! Not being able to run meant I got wetter than I would have had I been able to run to the car.
The reception hall was on the 2nd floor. There were no elevators so I had to climb 2 flights of stairs. The design of the stairwell, witch was pretty narrow with rail on both side, made it easier for me to get up than I had expected. The seats were your standard folding chair height. I sat mostly but was able to get up fairly easily as long as I took my shows off to grip the floor with my feet and "launch" myself up. The part that got to me the most tonight was not being able to dance. I love to dance. 2-3 years ago I would have been cha-cha-sliding with the best of them! I had to sit and watch everyone dance and tap my foot. There were times when i imagined myself out there dancing but than snaped back into releaity. I did manage half a song slow dance with my husband and that was nice. So when your friend, husband/wife, boyfriend/girlfriend, anyone, asks you to dance, get up and dance. You never know what the future holds and when you may not have the option.
Tim was the best man and did such a wonderfull job. I was so proud of him. He did very well on the speech and ad libed really well. Everyone seemed to enjoy it.
Now, since this is a blog about my day to day life with Pompe, let me tell you the challenges I faced today. We arrived at the church and the Bride and half the bridesmaids had not arrived yet. After I got Court dressed I had to keep her occupied and within my sight longer than I had planned on having to. For the average person, not really a problem but for me, pretty dang tough.
The seats in the church were very low so I knew once I sat down, I would be down till the end. Threre would be no jumping up to chase the kid. Thankfully Mom and Dad were there to help.
When It was time to head to the reception, it was POURING! Not being able to run meant I got wetter than I would have had I been able to run to the car.
The reception hall was on the 2nd floor. There were no elevators so I had to climb 2 flights of stairs. The design of the stairwell, witch was pretty narrow with rail on both side, made it easier for me to get up than I had expected. The seats were your standard folding chair height. I sat mostly but was able to get up fairly easily as long as I took my shows off to grip the floor with my feet and "launch" myself up. The part that got to me the most tonight was not being able to dance. I love to dance. 2-3 years ago I would have been cha-cha-sliding with the best of them! I had to sit and watch everyone dance and tap my foot. There were times when i imagined myself out there dancing but than snaped back into releaity. I did manage half a song slow dance with my husband and that was nice. So when your friend, husband/wife, boyfriend/girlfriend, anyone, asks you to dance, get up and dance. You never know what the future holds and when you may not have the option.
It Wedding Day!
Not mine obviously. Our good friends Wayne and Erica. Tim is the bestman and Courtney is the flower girl! I really hope she does well. I know she is only 2.5 and you can only expect but so much from a child her age, but I hope she does well. I also hope that her hair cooperates! It can be awfully crazy sometimes. I will post again tonight or tomorrow and let everyone know how it went.
Thursday, May 14, 2009
One of those nights
It is the end of the day and I am exhausted. The simple day to day activites tire me out. I am sitting down trying to recoup some strenght while dinner cooks. Some nights I get really down in the dumps. It is so nice outside and I would love to be outside playing with my daughter or taking her for a walk, but I cant. My mom is tajing her walking instead. It sucks. Im Courtneys Mommy, I should be doing those things. Its just gonna be one of those evenings it seems.
Wednesday, May 13, 2009
A Movie about Pompe
I remeber seeing somthing about this a while back but I just came across this tonight! How cool!
Watch CBS Videos Online
Watch CBS Videos Online
Tuesday, May 12, 2009
So it begins.
Today I went and got a cane. You do not know how hard it has been for me to face the reality that I need it. When I was at Duke yesterday I tried one out with the physical therapist. It made a big difference. When I use the cane, I don't waddle nearly as much and I think I may walk a bit straighter too. I also feel more secure and dont feel as off balance. Now I just need to get over the fear of public reaction and actually use it. I know that it has come to the point where I need to use it, but my pride is keeping me from just doing it. It is tough. I am 29 yrs old, I shouldn't need a cane.
My diagnosis
Looking back, knowing what we know now, you could say that symptoms first presented themselves as far back as a sports physical the summer before 9Th grade. I recall the Dr. stating very matter of fact that I had very little, if any at all, reflexes. This alone would not tip anyone off to anything so it was never considered a big deal. Come to find out, little to no reflexes is common in Pompe.
When I was 19, I donated blood to the Red Cross and was notified that I had extremely high Liver enzymes. At that time I was diagnosed with Fatty Liver since the Dr's. were unable to find anything wrong with me from a gastric view point. Come to find out, this to is common in Pompe. Apparently, liver enzymes are also found in muscle cells, and since my liver sells were diseased, my enzyme count was high.
Fast forward to February 2007. I was a happy, supposedly healthy, new mother to a beautiful, wonderful 4 month old. It was around this time that I begun to have difficulty getting up off the floor, out of a bathtub, climbing flights of steps, stuff like this. I contributed it to having recently had a baby and being overweight and out of shape. As the months went by, I became increasingly weak and it had begun to limit what I could do physically. I felt as though this is not normal. There were people out there that were larger than me that could do so much more. At a visit to the Dr. we decided to have me see a Gastroenterologist to address the elevated liver enzymes. I mentioned the weakness to the Gastro doc, and it seemed to be a big deal. Who would have thought? He was thinking along the lines of Rheumatoid Arthritis and sent me to a rheumatologist. The rheumatologist determined that it was neurological and sent me to a Neurologist thinking I had Polymyocitis. Looking back on those days and how scary the diagnosis of that was, I can now only wish it was that! The local neurologist ran some test and did not like what she saw. She sent me to the University of Va, to see the Neurologist there. At this point they were looking towards Myotonic Dystrophy or Limb Girdle Muscular Dystrophy. The Drs at UVA did their own series of test along with a muscle biopsy. The biopsy showed "promises" of Pompe, but they could not be 100% sure, so they sent me to Duke Medical Center. The Neurologist at Duke ran additional test and refereed me to DrPriya Kishnani. It was at this appointment that I learned my fate. 20 months after 1st noticing something was wrong, we got the diagnosis, I did indeed have Pompe.
When I was 19, I donated blood to the Red Cross and was notified that I had extremely high Liver enzymes. At that time I was diagnosed with Fatty Liver since the Dr's. were unable to find anything wrong with me from a gastric view point. Come to find out, this to is common in Pompe. Apparently, liver enzymes are also found in muscle cells, and since my liver sells were diseased, my enzyme count was high.
Fast forward to February 2007. I was a happy, supposedly healthy, new mother to a beautiful, wonderful 4 month old. It was around this time that I begun to have difficulty getting up off the floor, out of a bathtub, climbing flights of steps, stuff like this. I contributed it to having recently had a baby and being overweight and out of shape. As the months went by, I became increasingly weak and it had begun to limit what I could do physically. I felt as though this is not normal. There were people out there that were larger than me that could do so much more. At a visit to the Dr. we decided to have me see a Gastroenterologist to address the elevated liver enzymes. I mentioned the weakness to the Gastro doc, and it seemed to be a big deal. Who would have thought? He was thinking along the lines of Rheumatoid Arthritis and sent me to a rheumatologist. The rheumatologist determined that it was neurological and sent me to a Neurologist thinking I had Polymyocitis. Looking back on those days and how scary the diagnosis of that was, I can now only wish it was that! The local neurologist ran some test and did not like what she saw. She sent me to the University of Va, to see the Neurologist there. At this point they were looking towards Myotonic Dystrophy or Limb Girdle Muscular Dystrophy. The Drs at UVA did their own series of test along with a muscle biopsy. The biopsy showed "promises" of Pompe, but they could not be 100% sure, so they sent me to Duke Medical Center. The Neurologist at Duke ran additional test and refereed me to DrPriya Kishnani. It was at this appointment that I learned my fate. 20 months after 1st noticing something was wrong, we got the diagnosis, I did indeed have Pompe.
What is Pompe?
Pompee is also know as acid maltase deficiency or glycogen storage disease type II (GSD-II). In laymans terms, it is a nuromuscular disease in which the muscles are lacking a certian ensyme in order to function properly.
Pompe disease has been categorized several different ways in the literature. A neuromuscular disorder—and within that umbrella, a metabolic disease of the muscle—it is one of more than 40 diseases which share a common element of muscle wasting. It was also the first disease to be classified as a lysosomal storage disease (LSD), a family of more than 40 diseases that interfere with the body's ability to degrade complex molecules within the lysosome. Thirdly, Pompe disease is the most severe form of the 12 glycogen storage diseases (GSD), in which an enzymatic deficiency disrupts the normal conversion of glycogen.
You can get more detailed scientific details by visiting the websites I have linked to the right.
Introduction
Hi everyone. I have been toying around with he idea of starting this blog for some time now. I am new to the blogging world, but I think with some time Ill have it down. My purpose and want for this blog is to keep family and friends in the loop about my nuromuscular disease called Pompe. I will go into more detail at the next entry. I also hope that I can be of help to others out there who have this disease and are looking for so info about someone like them who is familiar with what they are going through. Lastly, I hope this will become an outlet for me. Obviously, having a physically dibilitating disease plays a huge toll on your emotions. I hope you will follow me through this journey of my life.
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