Rare Disease Day 2019

Rare Disease Day
Today is Rare Disease Day. I didn't know much about rare diseases until 2010. On June 18th, 2010, my then 11 year old daughter Morgan was diagnosed with Juvenile Dermatomyositis after being having increasing symptoms over the year and three months prior. It has been a long journey for Morgan over the last almost 9 years. It has also been a long journey for our entire family. I am so very proud of Morgan for how strong and brave she has been through it all. She has never, ever given up, and she has told her story all over the country to try to make a difference in healthcare and to raise awareness of Juvenile Myositis and of rare diseases overall.

Today, I want to share some of our journey and talk about rare diseases. Some facts  from NORD about rare diseases that you might not know.

• A rare disease is one that affects less than 200,000 people. Morgan's disease, Juvenile Dermatomyositis affects 1 to 3in a million patients, which is only about 70 to 210 patients diagnosed a year in the United States. There are only around 2,000 - 3,000 kids in the US.
• There are over 7,000 rare diseases that account for 10 percent of the US population or 30 million people affected in the US. 
• Patients with rare diseases are often misdiagnosed and delayed in finding a diagnosis. Many rare diseases take years to get diagnosed and are often called a zebra by medical professionals for that reason. Morgan went undiagnosed for about a year and three months. Early diagnosis results in better outcomes. 
• Only 5% of rare diseases have an FDA approved treatment. Juvenile Myositis does not have any FDA approved treatments, but thanks to Cure JM, we have a lot of research in motion, including medication trials.
• More people live with a rare disease than ALL of the people with heart disease, stroke, or HIV. 
• Many families and charity organizations are the only way that rare disease research happens. Cure JM Foundation is a parent volunteer-led organization that works tirelessly to raise money to fund research and to increase awareness. 

Morgan's Journey 

Morgan was a competitive cheerleader and gymnast who was a fantastic at tumbling. She could do all kinds of complicated flips and twists. She developed a mix of symptoms over time that we didn't put together as being related at first. 

Symptoms Included

• Several broken bones - some tumbling, some walking down the street. Doctors assured us nothing was wrong with her bones.
• Strep throat multiple times.
• Bumps on her elbow. We just thought it was some kind of skin irritation. She went to the doctor multiple times and tried several different creams and ointments.
• Her knees were red all the time. We thought this was just from tumbling and being on the mats.
• Bumps on her hands. We thought these were warts at first. Many doctors visits again for ointments and creams.
• She was losing her skills at tumbling. First her full. Then, her layout. Then, her tuck. Next her back handspring. We thought she had a mental block after having an injury.
• Fatigue. We previously called her the energizer bunny because she never stopped moving. Suddenly, I would go to pick her up at the gym and they would tell me she was sleeping and too tired to practice.
• No longer could do a hand stand. Her coach said he didn't think she was strong enough to tumble and encouraged basic strength exercises. We were baffled as she had been very strong for so long.
• Felt like her face was burning whenever we went outside. Redness on cheeks and purple eyelids. We thought she was being dramatic. :)
• Rash on ankles, knees, elbows, knuckles. This was what finally clicked. It was on all of her joints. Her pediatrician sent us to the dermatologist thinking she had psoriatic arthritis. 

The dermatologist asked a lot of questions, and I knew she was evaluating Lupus. She eventually said she thought it was psoriasis and said she needed a biopsy "to get the insurance company to pay for it." The doctor got all teary-eyed giving us the diagnosis, which terrified us both. I was afraid to ask questions. 

She was immediately started on oral steroids and then IV steroids and Cellcept, an organ transplant rejection drug, a month later. Three months later, she started IVIG, a product made from human plasma, which made a huge difference. She has continued to take 21 pills a day and get two infusions once a month for almost 9 years now. She crossed 100 hospital admissions this year.  The entire process has been a trial and error experience. There is no "standard" treatment that you just put someone on. There is no test to easily assess how her body is working. It takes a skilled rheumatologist to evaluate all of the signs, symptoms, tests and patient/parent input to figure it out.

Juvenile Myositis

Juvenile Myositis happens when the immune system is activated, but something like strep throat, a sunburn, or the response to an immunization, and it can't shut off. It starts attacking healthy tissue which causes inflammation in the blood vessels that lie under the skin and in the muscles. The inflammation causes the weak muscles and skin rashes. The inflammation can also affect other areas such as the digestive tract, heart, lungs, and joints.  It can be life-threatening, and we have too many JM Angels already. We need to find better treatments and a cure

Cure JM Foundation

We are so very thankful that we found the Cure JM Foundation on the very day that she was diagnosed. I posted a question on a message board, and an experienced mom called me that night. She told me to get a pad and pen and that she would give me all her knowledge. This group not only gives us hope by funding important research and by raising awareness, the network helps us know we aren't alone and shares practical advice and solutions. 

We are thankful for all of the support we have had from our family and friends. Our family has never wavered in listening, donating, participating in events, and giving us strength. 

Morgan, your path has not been easy since that July 18, 2010 diagnosis. Then, you were hurt in an accident that resulted in more rare issues. You are my one in a million in so many ways. Stay strong. Show your stripes. You are rare and amazing! I love you!

Central Florida Walk Strong to Cure JM

Florida Chapter Walk Strong to Cure JM

This Saturday, March 2nd, the Cure JM Foundation's Florida Chapter are holding a Walk Strong to Cure JM event. 

The event is free to attend, and the walk is just under a mile. We appreciate any donations either directly or through our raffle. We do short walks so that kids with JM can participate in the walks. It allows people to walk with them to celebrate them and their brave fight every day with a life-threatening disease. IWe have too many JM Angels already. We need to find better treatments and a cure.

Please join us in person or through our online raffle.

To register or to make a donation (can go toward raffle tickets), go here.
https://www.crowdrise.com/WalkStrongcentralflorida2019

If you want to participate in our raffles but cannot attend in person, go here.
https://docs.google.com/…/1FAIpQLSegYyvp0MaGvLucv3…/viewform

Meaningful Use Stage 2 Modifications

If you don't follow healthcare policy, you may not know much about the government stimulus package that has paid 30 BILLION dollars to get providers to use electronic medical records. One of the requirements is that FIVE percent of the patients they see must View, Download OR transmit their information at some point during the year (or quarter) for which they are asking for money as an incentive to implement these tools.

A couple of weeks ago, the Centers for Medicare and Medicaid proposed that we make that already very low bar of 5% and make it a single patient. So, the nurse in the office or the doctor or some other employee can log into the portal and that counts for a patient accessing the information. A single patient. I thought five percent was an insult as a patient, but 1 is really a direct slap in the face.

Here is my comment on the proposal. This is a very, very important topic. Please join me in commenting on the proposal (literally takes 5 minutes to write a short comment) about why we should push doctors to encourage patients to view their information. Patients find errors, avoid duplicate tests, have better understanding, know what they are supposed to do, remember things they forgot, and much more.  Here is the proposal where you can comment. http://www.regulations.gov/index.jsp#!documentDetail;D=CMS-2015-0045-0001 

I also started a petition on change.org to see if we can send a message. Please take 60 seconds to sign it electronically. https://www.change.org/p/andy-slavitt-centers-for-medicare-and-medicaid-give-us-our-healthcare-data

Here is my comment.

My daughter has a rare disease and sees 12 healthcare providers across 6 health systems. We have found errors in the records from almost all of them, and we have had many, many occasions where the doctors didn’t have access to recent tests or results. By giving the patient access electronically, the information can always be accessed from anywhere. I know the proposal says that a single patient means it is enabled, but medicine is very slow to change. If we don’t put pressure on the system to actually TELL patients about it and to HELP them understand why it is import and and how it can help them, we won’t have much improvement. Most people don’t know that they need their records until a crisis hits, and at that point, it is often either too late or then it is too exhausting to deal with being sick and having to navigate the web of getting records. 

We need to be proactive in teaching patients about this when they aren’t in crisis. My mom was diagnosed with lung cancer and sent to a specialist out of state. Her doctor Fedexed the records to the medical center in Texas. When she arrived, they couldn’t find them. Thankfully, she had access to them on her iPad and was able to share them with the doctor. She didn’t know it was important to have them because she thought the doctors just had it all under control. Thankfully, her daughter knew it was important and made her have them on her iPad. If her doctor had encouraged electronic access, it could have been a win for both of them.

As another example, I had a CT scan where the radiologist made a typo. It was a very simple typo in which he wrote the word “not” in a sentence where it shouldn’t be there. Thankfully, the ER doctor told me what he saw so when I saw the report, I knew it wasn’t right. However, my GI doc who received the report wouldn’t have known about the typo if I hadn’t told him. Additionally, it wouldn’t have been corrected for future reference. Patients really can help if they are given access to the records.

I understand that doctors say that they can’t control patients and make them get access. I might even agree if the criteria were 100% or even 50% of patients. However, it is currently 5%. If you can't get 5% of patients to look at the information written about them, then either you aren't communicating the need well or you aren't offering the information in a way that is useful to the patient. In either case, the criteria of making sure at least 5% (and more in MU3 as we adapt), forces some behavior change. After all, this isn’t free money. It is money paid by taxpayers and it shouldn’t be simple to get. The point of the whole program is to stimulate change for the good of patients.

I have read some of the comments that people have put signs up, and I have seen many of those myself. They all make the portal sound like work. Then, when you log in, it is a view only environment with very limited information. We must make the portals useful if we expect patients to use them. Patients need to know how it will help THEM, and practices and hospitals need to turn on more features on the portal so that it is worthwhile to the patient. Without pushing the requirements, I am afraid these things won't ever happen and it is so very important that it does. Will you be one of the people who needs access and doesn't have it? Will it be your mom? Your sister? Your child? Please don't let down patients by taking the easy way out.

2015

So, at the end of 2013, I said that I was so glad to see it go and that I was very ready for 2014. At the end of 2014, I was so happy because it was worse than 2013. Now, it is only April, and I am already regretting welcoming 2015.

So far this year...

1. Fractured my left leg and badly sprained the right (tiny hairline fracture but mainly a sprain)
2. Mike had an allergy attach that was an ER visit that started out very scary and me thinking about calling an ambulance.
3. Morgan fell and split her elbow open and had to get stitches
4. Regular infusions and appointments for Morgan's Dermatomyositis
5. Many more ortho appointments where I was non-weight bearing for over 2 months
6. Morgan's back pain is getting worse, so we started yet another specialist for her back. 
7. MRI appointments for the back, more doctors appointments
8. My mom who had been fighting lung cancer  suddenly got very sick with pneumonia, ended up in the ICU, and died on March 22nd.
9. I got a bad case of bronchitis right after her funeral.
10. Morgan had an ovarian cyst rupture which was another ER visit
11. Morgan got a bad sore throat and sinus infection
12. Amy got a sinus infection and a bad cough
13. Amy and Morgan both prescribed physical therapy 3 days a week
14. Morgan got meningitis from her IVIG and was admitted to the hospital.

Seriously. All of that in the first four months of the year. I am pretty sure that Blue Cross hates our family :(

I am writing this from the hospital, and I am even afraid to hope that it gets better. Surely, we are reaching the end of this bad luck streak? 

I have so many things to write about, and I will try to write them soon. Some of the topics to address are: critical care units and family access, especially at the end of life, meaningful use patient engagement and the 1 patient change, end of life of a parent, and pain management in healthcare. I will work on these soon.

Long Overdue Update

My healthcare adventure over the summer was a much longer and rougher experience than I had anticipated. Although I still have a way to go, I am finally back working and feeling much better. I ended up with a seroma and an infection, and I had several courses of antibiotics and getting the area drained. So much fun.  I still have pain in the area daily, and I still have a huge hard lump above my belly button. They will see about whether it needs to be removed in October, but we are giving it time to absorb first. I also still have some GI issues, especially with certain foods. I eat a pretty bland diet at this point to avoid problems. I do still get some pain on the lower left side, but it is mild and tolerable. I hope that this eases over time. It seems to mainly be when my GI is not happy in general.

My family was amazing during my recovery. I couldn't have done it without their help and patience. Morgan was truly a rock star nurse, and I know she will do a great job at it when she graduates and gets a healthcare job. Mike was so great at driving Morgan places and helping so much with errands and the house. He took over cat litter duty (still has it!) because of my weight lifting restrictions. My parents let me hang with them at their beautiful house that has an elevator! That made it nice to not have to worry about stairs. It also has the best view ever, so I got to sit in my anti-gravity chair and marvel in the beauty. My walks progressed from the hospital hallway to the short outside walks. I am not ready to start building up my walking program and maybe even some light swimming.

Unfortunately, I got a sinus infection or cold or something a week or so ago, and i was sneezing and sneezing and sneezing, and that caused some issues with pain and swelling. However, it is better now. I managed to travel to California for Stanford Medicine X with Morgan and then to TEDMed after that. It was a very long week, and I was so tired each day. I definitely need to work on getting my strength back so I can meet the social demand of these conferences. :) I got to attend my big brother's 50th birthday (old man now), and Tracy through a fantastic party for him. Unfortunately, I forgot that i hadn't been drinking for months, and I was wasted by the end of the night (sorry Mike and Tracy).

Of course, I second guessed my decision of having the surgery, the method of the surgery, and everything else that I could second guess when I was stuck on my cough feeling miserable. However, I already feel so much better than I did before the surgery, so I am feeling much better about it all now. :)

Advice for anyone having colon surgery like this:

1. Be prepared to be down for the count for weeks. When they say 8 weeks, they mean it. They aren't joking  :) If you get lucky and have a less invasive surgery than I did, you may be fine in less time. If so, you will enjoy it. If not, you will be prepared.
2. Do not be afraid to demand care. I probably should have gone to the ER when I first started having trouble, and I wish that I had gone earlier when the incision was having so many issues. I felt like such a pain to the office so many times, especially when i knew all the nurses and what was happening in their lives. :) It eventually got easier, and it is important.
3. GET YOUR RECORDS. Before the surgery, read all reports and visit notes. Make a summary or use CareSync to gather the records and get the summary for you.
4. Track your meds and pain levels. You can do this on paper or using tools like the CareSync app. Having this information tracked will definitely help you explain details that are easy to forget.
5. Tell your family exactly what you need. Don't be vague and expect them to know what to do.
6. Give yourself time to rest. If you rush, then it doesn't do anyone any good.
7. Investigate options for time off from your employer. There may be short term disability or Family Medical Leave Act policies that will help you. 

ER Visit - Bummer

Today, my incision looked wider, deeper, more red, and had much more fluid coming from it than previously. We decided that it was time to go to the ER. I have had mixed experiences with the Hilton Head Emergency Room in the past, so I was not thrilled to be going there. We have been there at least once a year in the last 5 years for Morgan, but I was a new patient to them.

Morgan drove me because she is the one who has been packing and dressing the open incision since Friday and could best tell the doctor how it has changed. My dad and Mike have been helping her, but they haven't been consistently looking at it each day. I was also having more pain than I was, so I mainly wanted to be sure that there wasn't something more serious than originally believed by my surgeon. Since we were visiting my parents for my recovery out of state, I didn't think it was efficient to keep calling the surgeon who couldn't see it live or do any testing.

We arrived at the ER and had to fill out a form. Nobody was seeming to pay attention, but eventually the security guard who quickly had Morgan sign in as a visitor got someone's attention. She told me to sit in the waiting room. There was a family there who was waiting for a family member who was already in the back, a man waiting to be seen, and us. Meanwhile, a man came in with a neck brace, and ankle wrap, in a wheelchair, and with crutches on his lap. He was taking all of the ER staff's attention as they couldn't figure out why he was in the ER when he was seen in the Savannah ER a few days before. They were all trying to speak Spanish to figure out why he wasn't at a spine doctor instead of the ER and then the man kept saying that he had a lawyer and the lawyer said he didn't need to pay. The one ER staff member said, "We aren't worried about your paying. We are just trying to figure out what you are doing here. " Classic.

A lady came to give me my license back and asked about my insurance card. I had forgotten it was still in my hospital bag, so I asked if I could fax it from my phone to her. She stood there amazed - literally jaw open and said, well yes if you can fax it that is great.

After about 10 minutes, I was called to triage. The triage room is really just a desk in the middle of the registration area. It certainly isn't private as everyone in the registration area (4 people when I was there) could hear every word. I am giggling because the insurance card lady is telling everyone that I can fax my card and that it is coming through. Only in healthcare can people be that exited about a fax, but Caresync came through for me in a big way.

The triage nurse is trying to remember questions and is writing them all on a paper towel. Seriously. She gets the general idea - surgery, leaking, opened, packing twice a day, started antibiotic, not getting better, and she had my history from CareSync that I had also faxed. Then, after about 8 -10 mins of this, another triage nurse who was not nearly as friendly comes to take over. She starts entering the paper towel info into the computer. She is clearly not happy that i had surgery at one hospital and that I am now seeking care at a different hospital. I keep telling her that my surgeon said it was fine to come here to recover at my parents where I would have more help than at the busy home I live in.  Finally, they take me back and I get changed into a gown.

Before anyone else comes in, the ER doc comes in and he is super on top of it. Very friendly and concerned. He tells me that he is worried that I have an abscess and that he is even more worried that one of his surgeons may not be willing to work on me since my surgery was done by a different surgeon in Tampa. He says he is ordering a CT scan so we can see what is going on but he is super worried about the quantity of fluid and how deep the wound is.

I get the CT and they say it won't be more than an hour. This was at 4:30. Around 7 when I still hadn't gotten the CT results, I asked if I could take a pain pill. They said I could either do that or get something that would work faster through the IV. I choose IV since it was in and fast. Unfortunately, it then took 405 minutes for the nurse to get it, so I am not sure it was really faster.  The US was playing soccer and I think the game may have slowed down care a little.  He gave me Dilaudid and Zofran which helped a lot. It still took a long time to get the results which was apparently due to the outsourced radiologist company that they use. FINALLY we got it, and he said he was surprised that there wasn't an abscess and that he thinks we can continue packing and dressing 2 - 3 times a day until the fluid reduced. He also said to be sure to take the antibiotic (it was only day 2 of it at this point). He cleaned the wound very well and repacked it. He said to be a little less aggressive when packing if we could.

I was very pleased with the doctor and felt he was very caring. He even asked if my pain medicine was working for me and asked if I needed something else. Thoughtful. I told him it was working well, but that I am trying to get by taking less of it. He said to take it as i need it and that he was glad it was helping.

Morgan was picked up by my mom at some point and my dad was with me for the rest of the time. He drove me home, and I was thankful to my whole family for wanting to help.  I am not sure how people manage health issues without family as awesome as mine. I am also not sure how I would hav managed some of these issues without CareSync. I have tracked all my meds, including pain meds, antibiotics, advil, stool softeners, and nausea meds. It makes it so easy to see how much pain I am having and when I can take something else.

Hopefully, I will get better from here on out. I am relieved to know that it isn't an abscess.

Incision Problems

The weekend went ok with the packing, except that is is still leaking a LOT. It is soaking through the packing and my clothes 2 - 3 times a day. I called the doc today because I am still having significant pain, and I am worried about how much it is still draining so much.

The nurse called back, and she said he is in surgery until the afternoon and that she would talk to him and call back. Her name is Jennifer, and I am starting to feel like we are old friends since I have talked to her almost every day recently. She called back later and said that he wants to call in an antibiotic. I checked with CVS later and saw that it was Flagyl and Cipro that he called in. I have an intolerance to Flagyl (they tell me it doesn't count as an allergy but it makes me sick). I called my BFF Jennifer back again, and she talked to him about it. He then called in Augmentin instead.

Because I am out of state, they called it to my Floridalocal pharmacy, and then I called the pharmacy here in SC. They transferred it to the local one here in SC so that we could pick it up. I am not sure what happened, but somehow it was transferred to the other CVS on the island, so my mom had to go to two places. :(

Morgan packed my wound with 5 sheets of dressing and mounds of tape, and it held up MUCH better. Of course, it seems like I have a diaper on my belly, but it is better than it leaking.

Tonight, my wound was bleeding some. I hope that is not a bad sign. Hopefully, it will not be bleeding tomorrow.