Have a Magical Day

It has been a busy summer for us so far. We spent the end of June and beginning of July in Orlando, FL for the annual FSMA Conference. Anyone who has ever traveled to Walt Disney World knows what a magical (& expensive) place it can be. Our kids literally explode with excitement when they hear they are going there and the fact that they were going to be there with some of their friends and family made it even better. The Conference was great. I always enjoy seeing some of my old SMA friends and meeting up with some new ones. I have also always enjoyed getting to speak one on one with so many SMA Researchers and SMA Doctors. This truly is like going to a family reunion. Last year's conference was in California and I didn't take Dylan. Besides the fact that I missed him terribly, the conference just didn't have the same feel for me without him being there. Having him with me not only puts my mind at ease but it is also a blast to watch him interact with the other kids with SMA. Heather jumps right in there too. Both kids did a lot of fun things while we were there. Dylan built a remote control Mater (character from the movie Cars) at Downtown Disney. Heather and her BFF Emma went to the Bibbidi Bobbidi Boutique and were transformed into Rapunzel and Princess Tiana. There was "Pixie Dust" everywhere...I mean everywhere, but it was worth it to see how happy it made them. We became very familiar with what the kids called Poncho Time during the Thunderstorms or as I called them, Mini Hurricanes. Dyl actually used to sing It's Poncho Tiiiiimmmeee every time it rained and gave me a fist pump. I think I need to ease up on my Jersey Shore watching. I paid $60 in wands at Harry Potter World which did nothing to stop the torrential rain that occurred. My best spells didn't work. I guess I was having an off day or maybe I just drank too much butterbeer.  In addition to seeing our SMA family, Ron's parents and his brother, Andy came up to visit us. We also were able to spend some time with our friends, Jackie & Sal. Gen and I actually met up with them one night and we stayed at Magic Kingdom until 1:30am. I think we rode almost every ride in the place. I got to go to the Outlet stores with Gen. Ron got to golf (twice I might add). Ron and I went on a wonderful date night where someone (not me) had one too many Nutty Irishmen. We also celebrated my birthday at Bongos which was a great last night to our trip.
On this trip I learned:
1. The Disney buses are slower than the Pony Express.
2. I need to take a Valium or drink a full bottle of Wine before entering Harry Potter World.
3. Everything in Disney costs at least $10 and that a bottle of water is considered a "snack" (Heather didn't care too much for that!).
4. At the Grand Floridian they say "Have a GRAND day!" instead of "Have a MAGICAL" day!" Maybe that is because of the GRAND prices they have there.
5. Disney Ponchos cost $8.50 (I found something less than $10!!!!!).
6. Bon Jovi cover bands while good, are just not Bon Jovi.

Now it is back to reality and getting back to eating something other than Mickey Ice Cream Bars, Mickey Rice Krispie Treats, Mickey waffles, Mickey Popcorn, etc. I think if I would have eaten one more thing shaped like Mickey Mouse I would have sprouted a tail and some mouse ears. Back to yogurt and salads, although maybe I did sneak a couple of those rice krispie treats home.

Bibbidi Bobbidi Boutique!



MJ, Peg, & Dyl



Heather & Madison

Dyl & Kiley

Kevin & Ron thought highly of the Theme Parks

Meeting Rapunzel and Flynn

Arthur & Dyl at the Boma

More Butterbeer!!!!!!

Meeting Phineas & Ferb

Magic Kingdom at 1am!!!



Last Night Celebrating at Bongos



Best Buds at the TRex Restaurant



Some of the Greater NY Chapter Families


When we got home, Ron surprised me with tickets to the Yankees/Rays game on Saturday, July 9th. Just by luck of the draw this was the game when Derek Jeter hit his 3000th hit. I have been to many many many Yankee games but this one by far was one of the most special. The Stadium was just electric. Dylan kept saying how awesome it was. When the game was over a man came over to us and gave Dylan a limited edition pin to commemorate the day. It was nice to see someone do something nice for Dylan. Heather was just excited that she was able to have pink cotton candy. I was glad it wasn't shaped like Mickey Mouse. Truly a magical day.

Dyl's Communion

May has been a long and busy month. At the beginning of the month, Dylan received his First Holy Communion, a day I really never thought could be possible. The reason I didn't think it could be possible was because since Dylan was 18 months old he completely lost his swallow. I started to notice Dylan having a problem swallowing around his 1 year birthday. He was starting to choke on bottles a bit and then in the January after his first birthday he came down with the Flu and his swallow was greatly compromised. I remember taking him home from the hospital with a GJ Feeding Tube and still trying to give him things by mouth. How stupid of me because due to that he choked a few times and had some major desats. Finally when he was about 18 months old I said no more food by mouth. Period.

Faith is something that is really important to me. I grew up Catholic and I wanted the same for Dylan and Heather. A few years ago I approached Arthur (Dylan's nurse) and asked him if he would become Dylan's religious mentor. Arthur was definitely up to the task. He worked with Dylan a lot and Dylan had to understand Arthur's new role as spiritual advisor in addition to being one of his best friends. We started to bring Dylan to church. This has always been difficult for me because I always feel Church can tend to be one of those super germy places I usually like to avoid with Dylan like the supermarket or the mall. Our parish, St Agnes Cathedral in Rockville Centre, is fabulous. The priests are very accommodating to our situation and there is a large handicapped section which is away from the germ fest. I also try to avoid going to the family mass because again there are always a lot of sneezing and coughing children. Arthur helped us to realize we could bring Dylan to church and to not be nervous in doing so. Arthur also made Ron and I realize certain things about our faith and I think we in turn explained to Arthur how we felt about certain things.

At a certain point, Arthur told me he felt that Dylan was ready to receive First Holy Communion and his First Confession. We contacted St Agnes and Fr John McCarthy assisted us in all of the details. Arthur suggested that his parish priest and friend, Fr. Robert assist us in Dylan's final preparation. Fr. Robert is a wonderful man. Dylan and Heather both truly enjoyed his visits and I enjoyed his guidance. Arthur and I explained to Fr. Robert how Dylan did not swallow. Fr. Robert said that he would use a very small piece of host and that his should melt on Dylan's tongue. Arthur took a few pieces that were not blessed and we practiced at home with Dylan. In preparation we also did a lot of extra oral motor exercises with Dylan. Poor Dyl, I was like a drill sgt...OPEN, CLOSE, RIGHT, LEFT, TONGUE OUT, TONGUE IN.

The big day arrived and Dylan was in good form that day. He wasn't junky and he didn't need a lot of suctioning. He knew this was an important day. My friend, Erin, from Lilly-Pop Photography took some beautiful pictures of us that morning. We arrived at the Cathedral and saw Fr. John and Fr. Robert. We hung Dylan's name banner on our pew and took a few pictures of him. Dylan was so excited to see so many of our family and friends at the church. He told Ron and I that he wanted Arthur to sit up front with us. When it was time, Fr. Robert came up to us and Arthur advised him on how big (or small) the piece of host should be. I then helped Dylan to open his mouth really wide and Fr. Robert placed a small piece of host on Dylan's tongue. I closed his mouth and after a minute we asked him to open it and there was nothing there. Fr. Robert put his hands on Dylan's head and said, Dylan now Jesus lives inside of you and Dylan yelled out a big YEAHHHH. It was a great moment for our family and I was very proud of him. It was so great that Dylan had a moment where he was just like the other 7 year olds in our neighborhood, receiving his First Holy Communion just like everyone else. I don't really know why I was so stressed considering how I saw one little girl spit her Communion out leaving her mother to pick it up from the floor and eat it and another little boy put it in his pocket.

Dylan & Arthur

Dylan & Fr. John

Dylan & Fr. Robert

A few days after Dylan's Communion I received a telephone call from the office of Senator Dean Skelos telling me that I had been selected as his 2011 New York State Woman of Distinction. I literally almost fell over. I felt so honored to have been considered and chosen for this award. It felt great to help raise more SMA Awareness in the great state of New York. I can never thank Senator Skelos enough for giving me this great honor. Here is the link to the press release on Senator Skelos' website:

http://www.nysenate.gov/story/senator-skelos-honors-debbie-cuevas-2011-woman-distinction


Of course upon our return from Albany, Dylan had a fever, Heather has a double ear infection with swollen glands and I have strep throat. Poor Ron had been playing nurse to all of us. At least we have been getting some much needed spring cleaning done.

All of us with Senator Dean Skelos

Happy Memorial Day weekend to everyone. Remember those men and women who have fallen to keep our country safe and free.

Plugs

I hate plugs. Not the electric kind, I'm talking about the mucous kind. The kind of plugs that land kids like Dylan in the hospital for weeks fighting for their lives. The kind of plugs that take our kids from us way too soon. Dylan has had some major mucous plugs since he was diagnosed with SMA. There have been a few flatlines with one happening in our home and Ron basically saving his life.

I remember a time when Dylan was about 2 months old (pre-SMA diagnosis) and I decided to cut his finger nails. I ended up cutting a little too close on one and his finger bled. He cried and cried. I called the pediatrician completely FREAKED out. He told me he would be ok and to calm down. He then said to me...Let's hope this is the worst thing you ever have to go through with Dylan. The following months of what we went through with Dylan after his SMA diagnosis really made this whole situation of his finger bleeding seem totally ridiculous to me. Especially after witnessing his first mucous plug.

How do you basically bring your child back when their numbers are telling you they are gone? How do you kick into gear and remember to do all the right things? How do you mentally recover from basically seeing your child lifeless and colorless in front of you? I don't really quite know how to answer that. You just do it. I always try not to allow my emotions get the best of me. I try to focus on getting Dylan back to where he needs to be and not listen to the crazy beeping of the vent and pulse ox. Before Dylan was trached we had some very scary times both at home and in the hospital. Times that we nearly lost him. Times I don't care to remember but are etched in my nightmares. The trach has made the mucous plugs a bit easier to deal with. But unfortunately with SMA there is always some sort of unchartered territory.

I had put Heather to bed and Ron was reading Dylan a comic book. All of a sudden Ron was yelling for me that Dylan could not breathe. We tried to ambu him but it was not working. Cough Assist did nothing. Dylan looked at me and told me he was ok but his oxygen was dropping and his heartrate was through the roof. Ron called 911. I told our nurse to get another trach out. Dylan kept saying he was ok. I told him I was going to take the trach out. When I took his trach out I could see it was completely clogged up. I have heard of this happening but it has never happened to us. I put another trach in and then Dylan told me he was better. Mom...he said calmly...I'm really ok now. Oxygen levels started to go up and heartrate started to go back to normal. Next the paramedics, the fire department and the police department were all in my house charging up my stairs. All of this happened in about 80 seconds. 80 seconds of pure terror. That is what this disease does. It is like playing beat the clock with someone's life. Then Dylan looked at me and said Wow Mom I think all of Rockville Centre is in my room. Just about.

When something like this happens to you and it doesn't really matter how old your child with SMA is, it still rocks you to your core. There is a complete aftershock that occurs. What if I was not there. What if I didn't hear the pulse ox alarm. What if changing the trach didn't work. What if...What if...What if. It makes going to dinner with your spouse alone up the block a scary thought. Seriously, it makes sitting in the living room a scary thought. As "normal" as we try to make our life with SMA there is always something that happens every once in a while that snaps us into the reality of how brutal this disease can be.

I don't think Ron or I slept that night. We decided to keep Dylan home from school the next day as a precaution. I think the fact that he nearly stopped breathing entitled him to a day off. Dylan woke up fine and we joked about how my Dad and Heather basically slept through the whole incident. Dylan thought it was funny that the Firemen got to see me in my robe and he also remarked on how the EMT was gorgeous (she was very pretty). Then we went about our "normal" day as if nothing ever happened. Too bad my mind can't move on that easily.

Prayers to all the sick SMA kids/adults out there.

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.

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. http://www.huntershope.org/. Here is the link to the conference I attended.

www.wadsworth.org/events/genetics/index.php

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. http://www.governor.ny.gov/contact/GovernorContactForm.php

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 www.fsma.org/nychalfmarathon.

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.

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.

Taking a Sick Day

Being sick, sucks. Plain and simple.

Stuffy nose, clogged ears, fever, can't get your head off the pillow sick is not fun. I try REALLY hard not to get sick, but this winter has been absolutely wicked on me. I feel like I have had the same recycled sinus infection since right after Christmas and it keeps coming back for more. Moms in general should not be allowed to get sick. We are the folks who tend to keep it all together and when we are sick it's not that I am saying things fall apart, but they do become a bit undone.

Being sick and having a child with SMA or with any disability or chronic illness brings the whole "Moms should not be allowed to get sick" rule to a different dimension. When one of us gets sick in this house whether it is Ron, Heather, my Dad or myself we basically quarantine ourselves from Dyl. There is constant hand washing, antibacterial gel using, clorox wipe cleaning, etc that is happening all day long to try to hold off the spread of germs. Then we just sit back and pray that he doesn't catch whatever we have because if he does and he gets really sick it will turn our life into more of a tailspin than it already is. It is just hard for me to not be involved in what is going on with him ever...I am such a control freak that I feel upset when I can't pick out his clothes for school or make sure his bags are ready for the next day or read to him at night. I know that there are very capable people filling in for me (ie, Ron, my Dad & the nurses.) but being sick and out of control still gets on my nerves. Plus how many Jersey Shore and Law & Order Marathons can I possibly watch.

Need to feel better....fast so I can get back to doing what I do.