Saturday, March 26, 2011

3 Years

My Mom and I were getting ready to go to a family party when she called me downstairs. My pants are too tight, she said. I asked her if she felt if her liver was swollen. Maybe, she said. I could feel my heart race. We took her to the doctor that Monday and he said her liver felt swollen and that she should go for a scan. The scan showed that her cancer had popped up again in her liver. No big deal we thought, just switching chemo, and it will take care of it. I felt relieved. We celebrated with a trip to our local Coach store.

As she started the new chemo something didn't seem right. I knew she wasn't getting better. She was more sick with less energy. She became forgetful and apathetic. St Patrick's Day she cooked us a beautiful meal and even though I knew she wasn't up to it, she went out and bought all of us St Patrick's Day goodies and made the day a special one. I watched her closely over the next few days and knew things were not going the way we all wanted.

The week before Easter I really started to notice a huge change. She wasn't eating and had no energy. She could not even bring herself to come upstairs to see Dylan so I brought him down to her. I had most of our family over that Easter. Before everyone arrived she came upstairs to give the kids their Easter baskets. She could barely sit down. After spending some time with my kids she looked at me and told me she needed to lay down. At some point every person in my family went down to visit her and they knew something was dreadfully wrong. On Monday I took her back to the doctor. He gave her another dose of chemo and she responded ok. We went home and she saw the kids.

The next morning my Dad came up to get me and asked me to take her Vital Signs. Her blood pressure was low, her oxygen was low and so was her heartrate. She kissed the kids and her and I stood in her kitchen. She looked at me and said, I know this is the last time I will ever be in here. I hugged her and we went in the car. The Dr examined her and then told my Dad and I that she was not going to win this battle, the battle of the 13 year war she fought with breast cancer. I will never forget walking out of this Oncology office where every single nurse was in tears and she looked at one named Debbie and said, don't worry you will ALL see me again someday. Then she got in the car and said to my Dad in true Dora fashion, "You'd better not drive Debbie crazy or I will come back to haunt you."

The next few days were everything you could imagine they were. I remember after the third night of her being in the hospital coming home and just collapsing in Ron's arms saying I wasn't ready yet. I wasn't ready to lose her. Ron replied that I would never be ready and he was right. She was ready though. She was ready to have her body released of the pain and fight she endured for 13 long years. So the next day I went to relieve my Dad so he could get a cup of coffee and the nurses and I cleaned her up. I washed her face, brushed her teeth and combed what little hair she had left. I took a picture of Dylan and Heather and placed it in her hand. Her doctor came in and told her she was not going to make it out of the hospital. She began to cry and looked at me and said, I am not going to see Dylan and Heather anymore. I told her she would probably have a better view of them than I did. I told her it was ok to go, that I didn't want her to suffer anymore, that we would be ok. A few hours later she took her last breath. I don't know if I could ever quite describe the peace that came over the room. I just knew she was ok, and that was all that mattered to me.

March 28th will mark 3 years since I watched my Mom who was a young 61 yrs take her last breath. Three years has not made the pain of losing her feel better. I try to find peace hoping she is with her mother whom she mourned so deeply. She will forever be the most amazing woman who has ever entered my life. At my Mother's wake, one of my neighbor's came up to me and said, "When your Mother dies you lose the person in the world who loved you the most."
Harsh? Maybe.
True? Maybe not in all cases.
True in my case? Absolutely.

Monday, March 14, 2011

Genetic Disease Conference & 4201 School Rally

What a week. I knew when I looked at the calendar that when I was done with this week I would likely need to sleep for 3 days straight.

I was able to attend a conference called Genetic Diseases of Children Advancing Research & Care in NYC this week. First of all I have not commuted to NYC in rush hour for almost 8 years now, so I knew that alone would be exhausting but I must say I handled it well and didn't look too much like a newbie. I even took the subway. I was very proud to act like a seasoned New Yorker for 2 days. Seriously though this conference was really eye opening to me. We are often told that SMA is a rare disease but a common rare disease. After being at this conference I really learned what the term Rare Disease means. There are people who have kids where there are only 5 other kids in the United States with their disease. There was a woman who had the only child in the Caribbean with a certain disease. Talk about grassroots efforts, imagine that not only has the general population never even heard of the disease that your child has but also there are not that many people who have it. These people are getting very little support, very little advocacy and there is very little research being done to find a treatment or cure. Most of these other rare diseases I learned about are degenerative and fatal and about 90% of the mom's I met had a normal pregnancy just like I did. Believe me not that SMA is a picnic, it certainly is not, but sometimes with the right respiratory care and nutrition our kids live longer than expected. Plus I always feel so lucky that I have been able to connect with so many other families who have SMA children. I don't know what I would have done without that support. The conference was attended by Grassroots Leaders, NIH, NINDS and some of the leading researchers and clinicians in the Genetics field.

One of the major topics that was discussed was Newborn Screening and how this could help in the treatment of a Rare Disease. The Clinicians and Researchers want Newborn Screening to occur because in many cases when a proposed treatment is given at an early stage of life they feel (this is not fact or absolute) that the chance of treatment or cure would be better. The Parents at the conference want Newborn Screening so that they can possible start intervening or caring for the child sooner and not at the time of a crisis. The Government does not want to expand Newborn Screening. Why? Well in my opinion the almighty dollar comes to play and really at the end of the day is the main reason. The Government states that you should not use Newborn Screening for a disease that cannot be treated or cured. Hello, Government I would have liked to have known that my son had a deadly disease. Would it have hurt me, yes. Would it have made me upset and angry, yes. But it would have better prepared me for things instead of feeling like I was run over by a train and then hit by a bus. The Government went on to say that there are some parents who feel their rights will be violated with Newborn Screening. I respect that and understand that but you know what Government, have those people sign a waiver that they do not want Newborn Screening for their child. I think that is fair, but it should be my liberty and my right to have the choice to know. Just my two cents.

Anyway, I sat through some very interesting panels. My friends Hamilton Cain and Ellen Goldstein were on panels so I was lucky to see them. I was also happy to spend some time with Cynthia Joyce from the SMA Foundation and Spencer Perlman from FSMA. I also spent some one on one time with Dr. Brian Kaspar who is a leading researcher in the SMA field and had a crash course on Gene Therapy. I appreciated his insight and honesty with regards to his program which by the way is very exciting. While at the conference I attended a lunch where the keynote speaker was NFL Hall of Famer, Jim Kelly. I am a huge football fan. As a kid on Sunday we watched Football. There were no 1000 channels of Fios or Direct TV. Sundays were for football. Jim Kelly was an offensive guru. He ran something called the K Gun offense which was a no huddle offense and the Bills were probably one of the best offensive teams under his leadership. I did know that he and his wife had a son who had a rare disease and had passed away. His keynote speech was amazing and inspiring. I mean here is this NFL Hall of Famer who went through similar day to day things I have gone through. Jim and his wife started a foundation in honor of their son called Hunter's Hope. Check it out if you can. Here is the link to the conference I attended.

Ok, so after two days of trying to figure out what a genome is....I had to prepare for a day trip to Albany to rally against the proposed budget cuts by Governor Cuomo for 4201 schools. Dylan's school, The Henry Viscardi School, falls under this category of being one of eleven 4201 schools. I drove up to Albany with my friend Lisa (thank you so much for driving both ways). Lisa also has a daughter who attends The Henry Viscardi School and we are on the SEPTA Board together. The rally was attended by about 1000 people. It was really amazing to be there. I have never participated in anything quite like it. Listening to all of the stories of the children and adults who have attended the 4201 Schools and how it has had a difference in their lives was heartwarming to me. I want the same for Dylan. I want him to be in a place that he feels like everyone else. That place is the Henry Viscardi School. If you have time, please send Gov Cuomo an email at the following link and tell him NOT to cut funding for 4201 Schools.

This weekend Team FSMA is running in the NYC Half Marathon. The Erwin Family always organizes this event and does a fabulous job. They have already raised over $20,000!!! If you would like to make a donation please use this link

Dylan has been battling an ear infection/virus all week and now I am a bit under the weather. This winter has been a rough one. Glad it is almost over. Praying for all the sick kids out there to get better.

Sunday, March 6, 2011

3rd birthdays should not have to be celebrated in Heaven

I love birthdays. I treat everyone's birthday in my family like a National Holiday. I don't mind getting older. I have already told Ron he should be making plans for my big 4-0 even though I do still have a few yrs left in my 30s. I feel every year I have on this Earth is a gift and I try to make the most of every single day. My kids birthdays are usually over the top with parties, presents and sometimes special trips to places like Disney, American Girl, and even a World Series. Tomorrow, March 7th, is Owen Shuler's 3rd birthday. But Owen will not be celebrating his birthday with his amazing Mom and Dad and all of his family and friends. He will be celebrating his birthday up in heaven hopefully with some other SMA Angels and I hope with my Mom, one of the ultimate SMA Grandmas to grace this precious Earth. I have been inspired by Owen's family from the moment I met them and I continue to be inspired by them today. Dorothy, Owen's Mom, has a heart like no one I have ever met. No, I am serious, this is one AMAZING Mom and an even more amazing family. And when they get together I know there is going to be some serious SMA Butt Kicking going on.

Owen, you touched so many lives in your short time here. You have inspired so many to fight for an end to SMA and to help those in their everyday battle with this disease. Happy 3rd Birthday in Heaven. I wish you were here so I could give you a big hug and your first Carmelo Anthony Jersey. Hopefully someone in Heaven got you that as a present.

If your kids are healthy and you read this blog have some extra patience with them today in honor of Owen and give them an extra kiss because you are blessed to have them.