Pompe Disease

Subscription Box Therapy: Stitch Fix #4

Since I was only able to keep two items from my last Stitch Fix, I ordered another box straight away. Note: I did receive the red top from Fix #2 in a size that fits me on the third try. Yay! 

I opened the box and the first thing I spotted was the shoe bag. Yay shoes! I then peeked at my fashion burrito and spied some fun spring colors. Hooray! Spring has arrived… well, to my closet at least. Here in Colorado it can’t really decide – we had snow again this past week. Snow! But over the weekend it supposed to be in the 70s. Insert dramatic sigh. Colorado. Shake head. 

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Moving on. I opened my shoe bag first, because shoes. I found these red sandals that I had pinned on Pinterest and they fit perfectly. I only wish they were a little less orange-red and little more red-red. But they will go nicely with what I have in my closet – and hopefully what is yet to be added to my wardrobe. 

 

The next item was the grey knit top. There is nothing special about this top, it is nice neutral basic, the only downside is that it is a bit itchy. I hope that once it is washed, some fabric softener will release this shirt’s inner softness goddess.  

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Acelyn V-Neck Linen Blend Knit Top by Market & Spruce

The next item was the navy blue and white stripped top. The cuffs are bright, neon orange. I love the pop of color and this shirt is so super soft. My Stylist saw that I had pinned some stripped tops on Pinterest and decided to send me this one. I love it. 

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Lucas Cuff Sleeve Knit Top by Papermoon

The next thing I pulled out was the orchid cardigan. Yes, it is a beautiful shade of orchid, like a dusty orchid the photo does not do it justice. The invoice calls the color light purple, but it really isn’t – my aunt and I pulled out my crayon box and, according to Crayola, it is orchid. The fit and cut are perfect. Unfortunately, I just discovered it needs to be dry cleaned. Boo! 

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Claudine Cardigan by Pink Clover

The last item was the pair of white jeans. This is an item I had requested from my Stylist. She couldn’t find anything in my size for my last Fix, but this time around she managed to snag this pair for me. My heart sank when I saw that they were skinny jeans. Ahhhh, scary! I’ve seen many people try on white skinny jeans on their Stitch Fix unboxing videos and most are in agreement that white skinny jeans are pretty unforgiving – as in they show everything, every bump and imperfection. As well as about half of them seem to be more than a tad see through. But again, being the good little Stitch Fixer that I am I needed to try them on. I needed to get a workout in anyway, why not burn some calories trying to pull on some skinny jeans right? Once again, Stitch Fix proves they are the masters of finding the perfect fitting jeans. My stylist sent a larger size than I needed, so they are not skin tight, nor are they too baggy. They do not fit me like skinny jeans = yay! They are also not see through = yay! They are the right length for my short little legs = yay! They are mine = yay! I cannot believe I own and am happy to wear white skinny jeans.  

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Kay Skinny Jean by Liverpool

I kept every single item in this box and therefore I received the 25% discount. I wasn’t all that keen on the grey top, but it was cheaper for me to keep all 5 items with the discount rather than paying for just the other 4 at full price. 

Once again, Stitch Fix has saved me the time, energy, and frustration of having to go out shopping for clothes. In the world of Pompe Disease, energy saving items and services are gold. 

If you are interested in trying Stitch Fix risk free – as in no styling fee for your first box: You can use my link here and your first $20 styling fee will be waived. Full disclosure: I will receive a $25 credit if you sign up using my link. Once you sign up and order a box from Stitch Fix you will receive a referral link of your very own!

Subscription Box Therapy: Stitch Fix #2

I was thrilled with my first Stitch Fix and immediately scheduled another Fix. I eagerly awaited my delivery and couldn’t wait to unbox all the beautiful spring colors I had requested. 

Here is what my burrito bundle looked like:

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Those are some pretty awesome spring colors and patterns peeking out right? Sigh. Is black the new spring color and I just didn’t get the memo? 

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Three black items, one grey, and one blue. 

Other than the color palette, my stylist did read my comments and sent me items that fit well and addressed some of my concerns from the last Fix. For example the last sleeveless top she sent me was made from a material that did not stretch, making it a little bit of a challenge to remove with my Pompe arms. So, the tank she sent me in this Fix was made from a material that had much more stretch and was so much easier to work with. However it is black, with some sparkly stuff around the neck. As soon as I pulled it out, I knew I wouldn’t like it. I was wrong. 

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Reeny Embellished Split Neck Knit Top by 41 Hawthorn

I don’t absolutely love it, but paired with the cardigan it makes for a very nice look. Not the bright spring look I was hoping for, but this will look nice for an evening out. 

You really have to try everything on. Items you may not like out of the box or in a photo, you may end up loving when you try them on. On the flip side, you may adore an item, but then when you put it on you’re not so thrilled with it. 

I did ask for another cardigan, but I was hoping for a more spring like color. However, I do love this cardigan and it is a different style than the one from my last Fix. This one has pockets!

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Martina Slub Knit Open Cardigan by Mix by 41 Hawthorn

I also asked for a pair of grey or tan trousers and my stylist sent a very nice pair that are comfortable and that I can use year round. 

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Garth Straight Leg Trouser Pant by Liverpool

This top is the only semi-spring item that was included – and I do love it. It is so soft and the buttons down the back are a nice touch. 

And the final piece was a bit odd. It is a black hooded top. Again, hello spring?? It is super lightweight and you do have to wear something under it, otherwise it is fairly transparent. It reminds me of the hoodies my friends and I would take to the beach in California. You’d throw one of these on once the sun went down and you were sitting around a bonfire. I wish it had been almost any color other than black. It also has to be dry cleaned. That is my fault, I should have put a note in my style profile about not wanting anything that needed to be dry cleaned. 

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Raza Hooded Knit Top by Honey Punch

While I did, for the most part, like everything in this Fix – it was not as good as my first one. There is nothing I really hated and I will use everything in it and often – but can a girl get some pinks, greens, red, blues, white, tans – anything but more black? Ok – yes, it did snow here a few days ago because – Colorado. But it is April, I am told they get sun and their version of “warmth” here. I’d like some fun spring colors to wear under my parka please. 

I’ve ordered my next Fix and asked once again for some spring colored items. I will let you know how that one goes. 

If you are interested in trying Stitch Fix, there is more information on how it works on my previous post . 

Also, if you’re ready to take the leap and would like to try Stitch Fix without the styling fee, you can use my link here. 

 

 

 

 

 

 

Subscription Box Therapy: Singles Swag – updated

I made a rookie mistake. I passed judgement on an item from my subscription box before having tried it. I mentioned that the socks included in my Singles Swag subscription box  seemed a bit pricey at $14 a pair. Well, yes, $7 a foot does seem like a lot for a pair of thin ankle height socks. However… wearing them made me a believer. I love these socks! I think they were designed to do yoga in, but I believe they were destined to be embraced by the feet of people like me. People like my Pompe Peeps! 

These socks are super comfortable, and while they are thin, they seem to keep my feet warm – inside the house. Have you ever seen or had to wear those so-called grip/safety socks they make you wear in the hospital? They are supposed to keep your feet warm and they have grippy stuff on the bottom. They are not comfortable, and that grippy stuff is kind of a joke for patients like me. I still slip and slide like Bambi on ice with those on. 

The Tavi Noir Savvy Grip Socks from my sub box have grip that rivals some of my shoes! My bathroom tile is super slick. And I swear these socks grip as well, if not slightly better than, my sneakers. It is nice being able to casually hang around the house in a pair of socks again. That is something that Pompe had taken away from me. 

For those of us who struggle with balance and slick surfaces – these socks are our new best friends. So much so, I had to dig the discount code out of the trash that I casually tossed out. 

So, I apologize to both Singles Swag and Tavi Noir for being so quick to judge. Pompe Peeps – check out the Tavi Noir site, you and your feet will love these socks. 

Thank you Singles Swag and Tavi Noir for giving me back sock days at home!

You can sign up for Singles Swag and other great subscription boxes at Cratejoy.

Happy Freakin’ New Year

Dear 2017,

I’m glad you’re gone. I’m glad you are now past tense. I’ve never been so happy to see the back end of a year. You were a bully. You were cruel. You seemed to take pleasure in finding new ways to torture me. But I survived because the people in my life stood next to me and picked me up every time you knocked me down. It is now 2018 and I hope 2018 kicks your butt! 

Thanks for the worst year ever. Screw you 2017.

Sincerely,

Not your fan

Saying good-bye is never easy. Except to a year that sucked beyond belief. Beyond my worst nightmares. Actually 2017 was my worst nightmares come to life. As we enter 2018, I have hope that it will be a better year, but the wounds and baggage from 2017 will continue to plague my existence and there is not much I can do about that.  

Let’s go back to the beginning. 2017 started like any other year. My dad and I went on a Disney cruise for my birthday. Then something new and exciting happened, something I had been hoping to happen for years – my Aunt J and Uncle G joined us on a week long Celebrity cruise. We had a wonderful and relaxing time. It was really nice just being with my family. Before 2017 our family had suffered a few setbacks and scares, so this cruise seemed to come on the tail end of a series of mishaps which included a couple of broken bones that required surgery (both my uncle and I), a very serious cancer scare, a very bad reaction to a pain relieving surgery, and a serious fall down a flight of stairs in a foreign country. As the the four of us enjoyed our week long adventure of sea, sun, fun, food, and togetherness the forces of evil and torture were circling around us. 

Back in November of 2016, my mother had gone in for emergency umbilical hernia surgery. She’d had this surgery before and recovered as expected. However this time, she struggled with her strength and mobility to the point I had her tested for Pompe Disease – just in case. She did not have Pompe. She was in and out of in-patient rehabilitation until they finally allowed her to go home against medical advice. She refused to get the care she needed, which was putting her in a long term care home – even if only for a month. What I found out later was that she wasn’t doing the physical therapy work she was assigned. Two of my aunts and I spent hours and hours on the phone trying to keep senior protective services from taking her away because that is not what she wanted. It was a giant mess and I was stressed more than I had ever been. I went on anti-anxiety meds for the first time in my life. Trying to get my mom the help she needed in her home went on for months, I spent hours and hours on the phone and internet as did my two aunts. I spoke to all of her health care professionals and social workers and neighbors. I was in Florida, she was in Nevada, and my aunts were in Colorado and Georgia. I was on the phone or internet for hours every day for weeks trying to get her the help she needed. I paid for a nurse to come help her, I paid for food, and groceries to be delivered to her since she couldn’t get out of the house. My aunt and I made plans to go to Las Vegas at the end of March to try and get her better situated in person. We didn’t end up going to Las Vegas until May. 

My dad and I had a our usual assortment of travel adventures coming up. We booked a trip to Asia for April 2017 to visit Shanghai Disneyland. From there we would fly to Tokyo and spend some time there before setting sail on a cruise from Tokyo to Vancouver. About 4 weeks before we were scheduled depart, my world changed forever – my father suffered a heart attack and passed away. I’ve lost people and experienced grief before, but this hit me harder than anything every has. I couldn’t eat or sleep, and I was physically ill. It was probably a good thing that I was already on anti-anxiety meds because without them I am sure I would have been even worse. 

Thankfully I have some really amazing friends in Florida who were there by my side immediately and my Aunt J and Uncle G arrived the next day – they had just returned to Colorado from our cruise on March 1 and now they were back. I’m an only child so I had no siblings to share this burden, but again, thankfully my friends and family were there.  I will be forever grateful to Susan, Jeanne, Jagger, Cristy, Anne, and Angelica for making sure I was never alone and didn’t have to leave my room until I was ready. I am grateful that Allen was able to pick my aunt and uncle up from the airport so I am grateful to may aunt and uncle’s neighbor who drove them to the Denver airport in the middle of the night so they could be with me the very next day. I didn’t have leave the comfort and safety that was my room. I wasn’t ready to explore the rest of the apartment my father and I had shared. It was a couple of weeks before I could even go into his room, we kept the door shut when people had to go in there because it was just too painful for me to see his room without him in it. 

My cousins and Aunt K and Uncle H flew in as well from Colorado, Kentucky, and California. Somehow thanks to a LOT of support I got through planning and executing my dad’s services and I think he would have been happy with the choices we made. We had a simple military ceremony at the National Cemetery in Cape Canaveral – very fitting seeing as we cruised out of Port Canaveral numerous times over the years and it was one of his happy places. The next day we had a “Celebration of Life” at our clubhouse. I know how cheesy that can sound, but it really wasn’t. My friend Leanna, whom my father thought of as a niece, created  a beautiful slide show of photos of my dad and set it to music from Main Street USA where he had worked since 2007.*  We prepared some his favorite foods to serve at the Celebration including explanations of what they were and quotes from dad about the items. Such as: Mashed Potatoes – “I’m Irish and I’ve never met a potato I didn’t like.” – Bill Griffin. Loads of people he worked with at Disney came by and shared stories of his antics, my family really enjoyed hearing about his life as part of the Main Street Mafia – if you have to ask, then you don’t need to know. Wink. Wink. I asked people to sign a guest book and share a story about my dad. People has some great things to say about him. I will treasure that book.

After the services were over and the out-of-towners headed back home, it was just my Aunt J and I. She stayed behind to help me figure out what to do next. She ended up staying with me in Florida for almost 6 months.

I needed to make a decision on what to do, as in where to live and who to live with. I had a number of offers, which is always nice. As much as I would have loved to stay in Florida, it made the most sense for me to move to Colorado with my Aunt J and Uncle G. They are both retired and are around to help me with the things Pompe prevents me from doing on my own. Plus, it is not just my aunt and uncle here. It’s my cousin and her husband who live in the same neighborhood, two of her kids, my other cousin, my cousin’s husband has a sister, daughter, and grandson in the area as well. Our family gatherings can be up to 11 people. Family game night is a thing! An awesome thing! And most of them are now hooked on escape games too! I miss my amazing friends in Florida. I miss the weather soooooooo much. I miss the beach, theme parks, cheap cruises and all that, but I am so blessed to be surrounded by family. I have good medical care here and didn’t miss an infusion with the move thanks to my nursing company and my Case Managers at Genzyme. As hard as it was to leave Florida, the transition into my new life here in Colorado has been pretty good. 

Once the decision was made that I would move to Colorado, the packing and planning needed to begin. I had my things as well as my father’s things to sort through. The first order of business was to deal with dad’s bank account. So my aunt and I went over to his bank and handed them the death certificate, but my father had not named a beneficiary on his account. They gave me instructions on what I needed to file with the probate court. My aunt and I went to the court and filed the paperwork and I paid the over $300 filing fee. We followed the clerk’s instructions on what to include and what not to include. A week letter a rejection letter from the court arrived. My parents who had been separated for over 23 years were still in fact legally married and therefore my mother was automatically the beneficiary. My mother was in Nevada and didn’t know my father had passed away – it was his wish that she didn’t know. Plus she was dealing with her own medical issues. I did have power of attorney papers for her which did allow me to have my father’s body released from the medical examiner to the funeral home. But those papers did nothing in the eyes of the probate court. Then just 7 weeks after my father passed away, my mom passed away. She went downhill so quickly that even her nurses and doctors were shocked. No one can tell me what she died of. No one. I had them send me her medical records and I’ve had a couple of my nurses look through them and no one seems to know. 

Everything in Florida came to a screeching halt when I got word that my mom had passed. My Aunt J and I had to get to Las Vegas immediately. We had to make arrangements and clear out her apartment. That was a nightmare of different color. Stating that she was a pack rat is putting it nicely. She was a hoarder, not like the hoarders you see on tv who live with piles of trash. She just had multiples of everything and everything was stuffed into every nook and cranny in that place. We counted over 100 pairs of shoes, 14 Christmas tea pots, 6 leather coats, and so on and so on. To walk into her place you wouldn’t know she was a hoarder, everything was put away and she had decorated her place nicely. Remember folks, hoarding isn’t just about trash it is about buying and buying in excess. It is not always about living in cramped conditions, it is an addiction to buying “stuff” and not letting go of it. Also, from time to time you should raid your pantry and throw out expired food. My cousin and his wife stayed at my mom’s place the weekend of the clean out – the rest of us were at a hotel on The Strip (Thanks to a generous discount from one of my sorority sisters). My cousin called one morning before we got to the apartment and asked if he could get rid of any expired food and then donate the rest. Sure! Great idea! When we arrived at the apartment he had a fun new game for all of us: Guess how long ago the oldest product expired? The answer: 22 years ago! Clean out your pantry and fridge at least once a year, or even every Leap Year for crying out loud! 

When I got news that my mother had passed away less than two months after my father’s death, I took my struggle to Facebook. I didn’t know where else to turn. I needed more help than my closest circle of friends and family could provide. Friends from all over the world stepped up and helped me. They gave me help I didn’t even know I needed. I asked for help with packing both in Nevada and Florida, but my friends did way more than that. A friend from elementary school asked for people to help me financially – I didn’t even think I needed that kind of help. Boy was I wrong! Thank you Heather for having the foresight to know I’d need that kind of help. Death is freaking expensive. Taking a last minute trip from Florida to Nevada is expensive! Plane tickets, hotel, food, cab fare, everything! People offered frequent flyer miles, buddy passes, hotel discounts, help with packing and packing supplies, flowers and cards arrived, meals were purchased, well wishes and prayers were sent. My friends Candi and Rob sent me a wonderful book on how to cope with loss. Everything everyone did, no matter how big or how small helped and was greatly appreciated. I am not sure I would have survived this year if it wasn’t for the support I received from everyone. In the end I sent out over 100 thank you cards to people who came to my rescue in my darkest hour of need. 

When my Aunt J and I arrived in Las Vegas, we were greeted by Aunt K and Uncle H from California and my high school/theater buddy Carie also made the journey from California to Las Vegas. My aunt and I arrived pretty late and so we had to wait until the next day to head over to my mom’s apartment to clear out her belongings. I had spoken to someone in the office a few days earlier as well one of my mom’s case managers from Hospice and gave them our travel plans. They both told me to take as much time as we needed to clear everything out and not to worry about the rent that was now overdue. We met with the apartment complex manager who proceeded to tell us that we would need to be let in and out of my mom’s place by a staff member and could only be there during business hours. Oh, and that we only had 2 days to clear everything out. This is just the tip of the iceberg of our dealings with the apartment manager, I have it all documented and may post it separately because I don’t have the strength to go through it all again. Basically she was drunk with power and cold hearted and wrong. We got her overruled and over 10 days of 12 – 15 hours a day and with the help of over 30 people we got the apartment cleared out. And the apartment manager got what she deserved – fired. Not that I would want to interfere with anyone’s ability to earn an income, but this manager was in the wrong line of work and I think she may have even broken the law. The apartment community staff and residents are much better off without her at the wheel. 

My cousin Lani Kai and Aunt LaVonne from California also came to my rescue in Las Vegas. As I mentioned, my mom had a LOT of stuff. Everything from antiques both authentic and reproductions, a mink coat, valuable art work, loads and loads of silver and gold and fine china. A lot of this stuff I had never seen before. And we are pretty sure the China Hutch had some sort of magical Tardis-like power because it kept producing more and more stuff. No matter how many items we pulled out of it, there always seemed to be more. It took hours to unload it. 

We discovered that Las Vegas isn’t really the market for vintage anything. Well, what can you expect from a city that tears down buildings every other day and builds bigger and better ones? My Uncle H spent days dealing with consignment shops and dealers in the area and no one wanted anything in that apartment. Well, ok one lady offered about $200 for some furniture and tea cups. Aunt LaVonne knows a woman with a consignment shop in California who was happy to take on a LARGE U-Haul truck crammed with stuff. Everything from furniture to tea cups to porcelain figurines. That cleared out the majority of “stuff” but it took a team of about 10 of us all day to get the truck loaded – but it was worth it. That truck pulling away was a huge weight lifted. I had no idea what I was going to do with all the “stuff” until Lani Kai and LaVonne arrived. 

After the worst trip to Las Vegas ever, my aunt and I headed back to Florida. We were mentally and physically exhausted as my infusion nurse pointed out. He put us both under strict orders not to do anymore work of any kind for a week. Otherwise he feared I would end up in the hospital. I had a speaking engagement in Louisiana that week, so while it was technically a business trip it was also a very nice and much needed get away for my aunt and I. We returned from that trip much more refreshed than we had from the Las Vegas trip.

All this time I was still going back and forth with probate court over my father’s estate. They kept telling us it is a simple case and should only take another week or two. We heard this over and over again. Each time I submitted more paperwork they had new problems with it. It was like they were making up new excuses not to process things and they were very inconsistent. We kept putting off the move to Colorado because we were under the misguided delusion that this court thing would be wrapped up quickly. Additionally, I was still responsible for the lease on my apartment that wasn’t up until November. Finally we just decided to suck it up and start the move to Colorado and deal with whatever may come our way with probate court and the breaking of my lease. Probate is still pending and I have no idea what to do next other than having to hire lawyers in both Nevada and Florida – which is really not in the budget. Getting out of my lease was much easier than I expected and the staff and management couldn’t have been more helpful. The exact opposite of how the manager at my mom’s place treated me. 

So my Uncle G flew back to Florida from Colorado to help my Aunt J and I with the drive. And also, he hadn’t seen his wife for the better part of 6 months and wanted to make sure she still knew what he looked like. He along with my cousin and her husband did drive from Colorado to Las Vegas when we were there, but that was a quick and chaotic trip for all of us. Finally, they were reunited for good and we made the trek home. We had all these plans to stop at 3 Presidential libraries on the way home. However, once we got on the road, we all just wanted to get home as quickly as possible. This move had been drawn out for so long that is was time to just get to Colorado and put that last chapter behind us. 

The journey from Florida to Colorado was not without its misadventures. A semi made a left hand turn right in front of us on the highway causing us and everyone else around us to slam on our breaks. The next day a couch fell off a pick up truck on the highway sending us and all the cars swerving to miss the debris and struggling to see through the snowstorm of cotton stuffing that exploded everywhere. After several long days on the road we finally arrived home. We pulled into the driveway and my aunt and uncle went to unload my scooter from the back of my car. There was a problem. My scooter was not there! It had fallen off the lift somewhere between the Kansas/Colorado state line (our last pit stop) and home. So the hits just keep right on coming! Of course, this was a Sunday of a holiday weekend so there were no mobility stores open. We made some phone calls and ended up at Wal-Mart to purchase a manual wheelchair. The two days I had to spend in that chair were exhausting and uncomfortable. On Tuesday when the mobility shop opened up I bought a new scooter – out of pocket. Why? Because I didn’t have pre-authorization from the insurance company and that takes months. I still don’t know if I will get my insurance to cover the cost of it. 

I have still not settled the estates for either of my parents. That is whole mess of crap. No wills, no beneficiaries named, probate court in two different states – neither of which I currently live in. Folks – write a will, name beneficiaries, open a trust. Probate is not fun nor is it cheap. Do not put your family through this crap. Please! 

My cousin Val volunteered to help me make final arrangements for my mom in California. The plan is to place her remains in a family plot where her parents and brother are buried. You’d think it would be simple enough right? Nope. Val and my Aunt J called the cemetery to ask about pricing and what needed to be done to make this happen. We’ve gotten several different answers. A family friend who lives near the cemetery even visited and tried to get to the bottom of things. We keep getting different answers and different hoops to jump through. I need permission from my mom’s brother to use the plot for her. We’ve been told there is a form he needs to sign, but no one can seem to produce this form. We’ve also been told there is no form. We’ve been told that they can’t start the paperwork until we schedule services. We’ve been told we can’t schedule services until the paperwork is complete. Anyway, Val was on top of this and you don’t want to mess with her when she is determined to get something done – then in October, the unthinkable happened. Her father, my Uncle H (the one who came to Florida and Nevada with my Aunt K when my parents passed) took a nasty fall, hit his head, and suffered a heart attack. Val did CPR on him and EMTs got his heart started again in the ambulance. He was unresponsive for days, but did have brain activity so we had hope. It was very touch and go and he had a set back his first night out of ICU. The nurse didn’t listen to Val’s instructions about putting his I-Pap on him before he went to sleep. So he stopped breathing during the night and back to ICU he went. His sister, a retired nurse was soon on hand to help make sure nothing like that would happen again. Val was prepared to sleep in the hallway or lobby to make sure her father was getting the care he needed. Well, their persistence paid off and he is scheduled to go home on January 4th.

I also had surgery in November. Remember the broken leg I mentioned earlier? About 3 years ago I broke my femur and had rods and screws placed in my leg. The bone healed nicely and I did all my physical therapy, but 3 years later I was still in pain. My new doctor here in Colorado suggested that I be seen by an orthopedic specialist and I agreed. The surgeon suggested that I have the hardware removed and that could get rid of the pain since I had an inch of metal sticking out of my bone in two spots. Also, I had a tendon that ran over those two sharp pieces of metal every time I stood up and tried to walk. So I agreed to surgery and it went pretty well. Because of my Pompe Disease, I opted for light sedation and an epidural. That’s right, I was awake during the surgery, but it was the best thing for my respiratory system. It was weird and a little scary, but I know I made the right decision not to be put under. As well as the surgery went, the recovery was a lot tougher than the initial surgery. I was in a lot of pain and discomfort for the first couple of weeks and was not allowed to put any weight on it. I have been house bound for about 5 weeks now. The pain is almost completely gone and I start physical therapy on Wednesday. Hopefully that will give me some independence back or at the very least, mean that I won’t experience the pain I had before the hardware was removed. 

2017 continued to take aim at my family. There was a semi-emergency gall bladder surgery, a job loss, two beloved family pets had to be put down, a gas leak that could have been deadly, and a mining company wants to put a gravel pit in behind our house. 

Dear 2018,

I am still recovering from an abusive relationship with 2017. Please be gentle, patient, and kind. I would love for some great things to happen in 2018, but I am more than happy to settle for no more tragedies. My family and I really need a break. 

Hoping for a better year.

Sincerely, 

Your hopeful fan

*Click here to view the slideshow Leanna created for my dad’s Celebration of Life Gathering:  Bill1 2

Down for the Count

It’s been over a year since I conducted a most epic gravity check. Just over a year ago I fell and broke my leg. I have still not fully recovered. After the surgeon put me back together again, he warned me it would take a least a year to completely heal. I didn’t believe him. I have trust issues with doctors (and television executives – but that is another story. Hint: Firefly). The doctor was right. Here it is, over a year later and I am still not back to the condition I was before my accident. 

So what about this epic gravity check you ask? It was late at night, I was tired from being a little late on my infusion, and I fell backwards off a step stool into a confined space and landed on my hip. In the world of Pompe, falling is not uncommon, minor bumps and bruises, minor (and major) humiliation, and sometimes serious injuries happen in our little awkward community. My previous falls had resulted in a concussion, mild whiplash, and a twisted knee. Those were nothing compared to this fall. I had no idea what I was in for as I sat there on the floor waiting for the aching to subside. I thought I could simply scoot my way to a nearby chair and get up. Nope. I struggled for hours and couldn’t move more than inch without excruciating pain. I had no choice but to call for the paramedics. Even then I thought maybe they could just help me up off the floor and into my bed. I wasn’t in pain, unless I tried to move. When the paramedics got there and examined me, they thought I might have just dislocated my leg. They felt that I would be in much more pain if something had broken. Ok, I thought. They’ll just put my leg back, it will be painful, and I’ll recover in a few weeks. I had dislocated my knee in dance years ago and it healed fairly quickly. My dad is the master of dislocating his shoulders and he always heals up fine. No problem, I can handle this I thought. 

When the paramedics moved me from the floor to their gurney I experienced the worst pain I had ever felt in my life. I would have to endure that same pain of being transferred from place to place over and over again over the course of the night. From the paramedic’s gurney to the ER bed. From the ER bed to the X-ray table – and then they had to move my leg all around to get good images of it. They did give me a mild pain reliever before they sent me to the X-ray lab. After the had me do what felt like yoga on the X-ray table, they transferred me back to the ER bed. And then I waited for them to tell me I had severely dislocated my leg. That was not the verdict. I had in fact broken my femur bone and it would require surgery. Not awesome.

A million thoughts ran through my head:

Like: I don’t have time for this!

I have a ComicCon to attend this weekend. Yes, that was my first concern. The entire cast of Torchwood was going to be there! I am still ticked about this. To add insult to injury, literally, just about all of my doctors attended the event. Making them cool doctors, but cruel people to not have taken me. With a little make up I could have been a zombie apocalypse victim. They could have just rolled me into convention the hall in my hospital bed. HMOs cover that right? 

Worst of all, I had never really had surgery before. For one of my muscle biopsies they put me completely under and I was sick for days afterwards. And now, with my official Pompe diagnosis, I knew how dangerous general anesthesia was to me. 

Luckily, I have one the world’s leading experts in Pompe Disease on speed dial. I got in touch with Dr. Byrne right away and expressed my concerns to my medical team at the hospital. Thankfully my medical team was more than happy to consult with Dr. Byrne about the special precautions they needed to take. Honestly, I couldn’t have asked for better care. They brought a respiratory specialist in to join my team to make sure they were extra careful not to put more stress on my diaphragm than absolutely necessary. 

Their plan was to do the surgery as quickly and as safely as possible. Then to get the tube out of mouth and sit me up as soon as possible. The surgery involved two lovely incisions, to place a rod and some screws into my leg to patch up the break. They stapled me back up and sent me to recovery. I woke up in my hospital room sitting up and without a tube down my throat. Good job docs! Apparently there was a recovery room I was in, but I don’t remember that part nor do I remember acting all goofy while coming off the drugs as a certain father of mine claims to have witnessed. There is no documented or photographic proof of this alleged behavior. I only remember waking up in my hospital room feeling a bit groggy with my leg bandaged up. 

The rods and screws that will reside in my leg forever.

The rods and screws that will reside in my leg forever. Which is why I am still experiencing pain. 

I spent two weeks in the hospital recovering. They brought in a physical therapist to work with me, I was able to stand on my leg the day after surgery. I couldn’t (and still can’t) pull all my weight on it, but I could stand on it. Nice going doc! 

The reason I stayed in the hospital so long was partially due to needing an infusion. The doctor on my case was reluctant send me to inpatient rehab, my next stop, before I had my infusion because they were not equipped to give it to me. Well, neither was the hospital really. They had not been trained on how to mix or administer Lumizyme, but they stepped up to the plate. Once again, my personal care team at Genzyme helped save the day too. They worked with my insurance company and got the staff at the hospital trained so I could receive my infusion. 

Two weeks in the hospital wasn’t too bad. The food was ok , I had a room to myself, free WiFi, a decent amount of TV and movie channels, and I had visitors just about every day. 

After my infusion it was time for me to be moved to an inpatient rehab center. This would allow me to work on recovering enough to be self sufficient. I needed to go from completely reliant on nurses to being able to move myself from place to place on my own. I had a lot of work to do, but the facility provided the perfect motivation in the form of sleep deprivation and inedible food. 

The physical therapists and nurses on this facility were top notch. My care was amazing. However, the living conditions just didn’t work for me. I was basically in a nursing home for lack of a better term. I was the youngest patient by decades. Decades. I shared a room with a patient who had to sleep with a bed alarm because she kept trying to get out of bed and she would fall or try to make a break for it. The alarm went off all night. Night after night after night. The food was almost comical. No, it was bad. I would take photos of it and send it to my friends and ask them guess what it was. A couple of friends would smuggle food in to me when they could. I would have killed for something from Del Taco. Killed. 

Guess the mystery meat - is it even meat?

Guess the mystery meat – is it even meat?

How many times has then been recycled?

How many times has then been recycled?

I think this was chicken, carrots, and some sort of mystery side dish made from 3 days worth of leftovers.

I think this was chicken, carrots, and some sort of mystery side dish made from 3 days worth of leftovers.

I worked hard to get an early release. To reach all my goals as quickly and as safely as possible. In the meantime I was still plotting my escape in case my captors were not prepared to let me go. I had friends at the ready with an unmarked van waiting to snatch me under the cover of nightfall. Luckily it never came to that. It might have led to prison time – where the food might have been better. I was released after one week. The director came to talk to me before she would sign the release papers. She had never had a patient make that quick of a recovery. I wasn’t looking to set any records, I just needed my own bed, and some food that I could identify by sight.  

I made it home and then went for outpatient physical therapy. This helped a lot, but I am still not back to where I was. It is frustrating to say the least. I am glad my surgery and recovery have gone as well as they have, but I am ready to be able to fully walk on my leg again. I am ready to take back the small bit of independence I still don’t have. It is just too painful to walk on that leg to this day. 

Where it really holds me back is with driving. Not with the actual driving, but the loading and unloading of my scooter. Since my leg still causes me so much pain, I cannot walk the length of my car to load and unload my scooter from the lift. Someone has to do that for me. Sometimes it is a friend, sometimes it is a valet. Yes, it has slowed me down. I can’t just get in my car and drive someplace without having someone either with me or people at both ends of my journey to help me. However, it has not slowed me down entirely. With help, I can still enjoy the theme parks and travel and cruising. I am still able to get out there and give presentations about Pompe Disease to the patient and medical community. 

My battle with gravity will never end, but hopefully soon my battle with my new metal infused leg will end and I will emerge victorious! I will Keep Fighting! 

Why do I do this?

I had a patient meeting yesterday in Knoxville, Tennessee. It should have been a a fairly easy journey – famous last words. They loaded about 10 of us on the plane and the Captain makes the following announcement: “Well folks, I don’t have good news. (At least we were still on the ground – geez!). The mechanics have inspected the plane and have found a problem with our right engine. That is all I know, but it was fine all the way here. We have stopped boarding and if you feel like you want to get off the plane you are welcome to do so. I will know more in about 10 minutes, but please expect at least an hour delay.” 

Waiting.

“Folks, it is not looking good. This plane is grounded until at least 3pm.” (Which is about 6 hours after the scheduled departure.) I found out later that the engine had to be totally overhauled and that plane was expected to be grounded for 24-48 hours. Delta did live up to their name “Don’t Ever Leave The Airport.” Seriously, they did a good job in a stressful situation. 

I was supposed to arrive in Knoxville at 1:30pm for a 6pm meeting. Delta tried to reschedule me for a 6pm arrival. When I told them why that didn’t work for me they found room for me on a flight that arrived at 4pm. The meeting was not close to the airport so the driver took me from the airport, to hotel to pick up the folks from Genzyme, and we went directly to the meeting. I changed clothes at the conference center.

The flight home was much less eventful. Except for the guy next to me who kept dropping his phone on my foot. Ouch! And the lady behind me who kept digging around in the seat pocket behind me. Yes, lady, that is my butt. I was already groped by TSA, so I’m all set.

And oh yes, I had to change planes in Atlanta – which I also hate. Not so much changing planes, but changing planes in Atlanta. Ugh! 

All that travel drama turned out to be worth the trouble. There was a patient who was diagnosed in the 60’s with some sort of “glycogen storage disease.” This patient now has a Pompe blood spot test kit and is making an appointment with their doctor. There were other key moments of this meeting, but this was the highlight. I would not wish this disease on anyone, but if it is between Pompe and another cruel disease for which there is no treatment, I think Pompe is the lesser evil. 

I would have been gutted if the plane delays had caused me to miss this meeting. This could change the course of a person’s life. This is why I put up with air travel for one night away from home in 30 degree weather. 

I am now going to curl up in my own bed and sleep until I have to get up for my next presentation. Tomorrow. Gainesville. 

Lumizyme “on the go”

In October I took a 3 week vacation, one my friend Leanna and I dubbed our Epic Disney Vacation. We spent a week in Anaheim, California exploring the Disneyland Resort, and then took a two week Disney cruise to Hawaii. My Lumizyme infusions are scheduled for every two weeks, so obviously some arrangements would need to be made. I become terribly fatigued and my muscles start to ache if I miss a treatment. It is a huge set back in my crusade against Pompe when my treatment schedule is interrupted.

I started working with my Case Manager at Genzyme months in advance to arrange a Lumizyme infusion while I was away from home. My infusion needed to be scheduled for the first week of my vacation because that was the only time I would be “on land” long enough for it to take place. Dr. Byrne asked where I was staying in California and found a colleague who worked close to Disneyland. Dr. Kimonis at the University of California Irvine agreed to take me on as a patient and supervise my infusion.

My Case Manager worked with the Case Manager for the Irvine area and lined up all the approvals with the hospital and my insurance company. I filled out my paperwork a few weeks before we left on our trip and confirmed my appointment. My first “on the road” infusion couldn’t have gone smoother. Everyone at UC Irvine was so helpful and their infusion chairs are the best I’ve sat in. Everything is push button, to recline, or put your feet up, watch TV, or call your nurse, you just push a button on a single remote. The chair even had heat and massage features.

I do not think this is something that could have been pulled off on short notice. It took a lot of people working together to make it happen. For that, I am very grateful. Had this California infusion not been arranged I would have gone about 4 weeks without a treatment. That would have left me feeling pretty cruddy during the cruise.

With careful planning it is possible to make this sort of arrangement for your infusion. Of course it depends on your insurance, where you are going to be, and probably a few other factors, but I believe it is worth trying if you want to travel and not miss an infusion. Be sure to give your Case Manager plenty of notice to help make arrangements for an infusion “on the go.”

Disneyland, October 2012 with my friends Robyn, Elysse, and Leanna. I’m full of energy because of my Lumizyme on the go!

Status Quo

 

I’m dusting off the blog. I have neglected it. Does that mean there has been nothing to report, or that I have been too busy to sit down and write about it? Well, a little bit of both.

 

I’ve been busy with speaking engagements, but that has more or less become a regular event in my life. In fact, I’m heading to New York this week for another one. I always look forward to meeting new people in the patient community.

 

So what else have I been up to and where have I been? I spoke at a United Pompe Foundation  (UPF) meeting. This time the meeting was held near Duke University, which is one of the few places that has experts who not only know about Pompe Disease, but who are researching new and better ways to fight it. The meeting coincided with clinic hours – meaning patients could be seen by Dr. Kishnani and other specialists at Duke who really understand Pompe. This was especially beneficial to patients who don’t have access to knowledgeable doctors at home. The meeting and clinic appointments were very successful, even the “veteran” patients admitted to learning new things. The dates for next year’s meeting have been scheduled for April 18, 2013. Keep checking the UPF site for more information, or visit this Facebook  page.

 

Genzyme sent me to Nashville, Tennessee to speak to their travel agency about booking travel for patient speakers. I repeated the presentation via video conference about a month later. There really is an “art” that goes into planning and booking travel for patients. I also did a few presentations here in the Orlando area for both Genzyme and the Muscular Dystrophy Association.

 

Sprinkled between my commitment to Pompe education and awareness I of course had to include some personal travel. I’ve been on a few more Disney cruises and am boarding the Disney Dream again in about a week. I went up to Atlanta to visit with my friend Lonnie – who I’m cruising with next week. In October, my friends and I embarked on what we deemed our Epic Disney Vacation. We spent a week at Disneyland in California. I even arranged to have one of my infusions at UC Irvine under the watchful eye of Dr. Kimonis. We went up to Hollywood, visited my friend Matt at the Walt Disney Studios in Burbank, and played tourists at Universal Studios. After a week of California fun we boarded the Disney Wonder for a two week cruise to Hawaii and back.  The trip took a LOT of planning, but it was well worth it because the trip couldn’t have been better.

 

So, as you can see…it has really been fairly routine….for me.

 

Leanna and I with my favorite puppy at Disney California Adventure.

The Lab Rat Chronicles

Over the summer I participated in the Amicus Therapeutics AT2220 Trial. The clinical trial is a safety study of a chaperone drug. The study drug basically does what the name suggests, it works alongside Lumizyme and “chaperones” it, making sure more if it gets delivered to where it needs to go. It is an oral (liquid) medication that is taken about an hour before starting regular enzyme replacement therapy (ERT).

I participated in the study at the University of Florida (UF) – where else? The team up there asked me to participate over a year ago – which should give you an indication about how long it takes to set something like this up and running. Additionally, it is a pretty big commitment on the part of the patient (lab rat) as well as the medical team. I had to commit to 6 separate, carefully timed appointments just to receive a single dose of the trial drug. I underwent several tests, including a couple of punch needled muscle biopsies, hourly blood draws during my infusion, and a couple of overnight stays in the hospital – all in the name of science.

The team at UF is amazing – but that is nothing new to those in the know about Pompe. Of course, I was a little nervous testing a new drug, but I knew I was in expert hands. After all, this is where I first started my ERT, before it received FDA approval and I’ve yet to grow a second head. In all seriousness, I couldn’t ask for a better place to be or with better people to work with. Not only is everyone so knowledgeable about Pompe and all the emerging research, they are simply a great bunch of people – the kind you just want to spend time with socially. It really makes having a sucky disease like Pompe a little less sucky.

The clinical trial is being conducted in 4 cohorts, or groups, each of which will receive a different amount of the trial drug. Patients in cohort 1 received the smallest dose, while those in cohort 4 received the largest. I was in cohort 3 and the trail should be wrapping up very soon. Preliminary data from cohorts 1 and 2 are showing promising results.

It could be a couple of years before the next phase of the trial begins, meaning more patients and more doses. Clinical trials are very closely regulated by the FDA and the smallest little mishap could set the whole study back. Which is why things can seem slow going, but it is really in everyone’s best interest that everything is done exactly right down the tiniest detail. The smallest error could result in a big set back.

Would I participate in a clinical trial like this again? More than likely, yes. I would have to take all the factors into consideration, it really isn’t something to be entered lightly. As I mentioned, it is a pretty big commitment time wise, which can seriously cut into my travel plans. It would also depend on who was running the trial. If it was Dr. Byrne and his crew up at UF and I had time – then, yes, sign me up.

Sincerely,
Your Loyal Lab Rat

How do you do it?

I’m often asked how I deal with Pompe so well, where I draw the strength to go on fighting day after day. Well, first off, the alternative is to just sit at home complaining, feeling sorry for myself, and waiting for Pompe to kill me, but that is just not how I roll. The simple answer is that I’m stubborn and I’m a fighter. I refuse to let some stupid mutated genes ruin my life. It does make for an albeit difficult, but interesting life.

Some people just deal with adversity better than others, it is a personality trait. I also draw inspiration from those around me, even those who are no longer here.

When I was in elementary school one of my best friends was diagnosed with a brain tumor. She went through surgeries, chemotherapy, and radiation treatments. The treatments made her very sick and she lost all of her hair. I watched as other kids shied away from her or stared at her, but through it all she remained positive and outgoing. She appreciated the days when she felt good and would want to go out and seize the day. Even if she was checked into the hospital for a multi-day treatment session she would ask her doctor for a “day pass” so we could go to the movies or Disneyland or shopping. It was like she understood without equivocation at 9 years old how important it was to embrace life and enjoy yourself when you could.

I learned how to be a Pompe Warrior from Jaimie. The example she set as a young child continues to inspire me to never give up fighting and never give up hope, to enjoy life and live it to the fullest. She may have been thankful that I remained her friend, that I wasn’t one of the ones scared off by her cancer, but honestly I think I am the one who benefited the most from our friendship.

So how do I do it? I get by with a little help from my friends…..and family too of course!

Today is her birthday. Happy Birthday Jaimie. You are greatly missed and continue to inspire the lives you touched.

“Wouldn’t it be great to be able to fly, over the rainbow and beyond the sky?” -from one of Jaimie’s many poems