That Week in August

I wish somehow you could experience this and I could share more with you as a Mom without you ever having to deal with the disease, our sons have, itself. This is a life changing experience for me.  I experience so much in just these week long visits I wish for some of you to experience this with me. I learn about humanity, humility, fear, and how to get past hard things a little at a time. I experience joy, pride, appreciation for simple things like playing in the park, and I get praise, inspiration and motivation.

Our family finished a week long clinical trial visit in Chicago in August of this year.  As the weekend ended, and we got prepared to go on this trip, I kept thinking, " what is going to be the hardest part of this trip? "

It's full of so much to worry about...there are anesthesia events, tests, exams, traveling to and from appointments, getting there, spending countless hours in the hospital, helping the boys each individually get through the week and every son with such different individual needs...and then there was my Dad, LOL my Dad had to go for a walk alone every day (we all understand). Going into the trip though I know what to expect but it doesn't ease my concerns.

I worried about whether I would get any sleep the entire time I was there. I got very little.

I worried about whether I could get up earlier than Nicholas to prevent him from eating or drinking anything before having to report to the hospital for anesthesia.

I worried about how Nicholas would deal with going to the hospital and being on the procedure floor where anesthesia is administered. Would he be OK waiting? Would he be OK being wheeled back for the test?

Would my Dad be OK with my other two sons back at the hotel? I was alone. It was all me and I had to get through all of this for everyone else, period, end of story.

In recovery, Nicholas grabbed my neck and held me close, he cried " Mommy, Mommy, Mommy, don't leave me, Mommy, Mommy."  It was difficult to hear that but I was just so glad to be hugging him. Even when he didn't want to be cooperative, I tried to get him to focus on leaving and going back to the hotel. When I am there with him my whole body is calm, I make sure that I am peaceful, comforting and quiet. The absolute last thing I would ever want to do in the recovery room is make him feel that I am nervous, stressed or upset, I would never do that to him when he is going through something so difficult and scary. He is amazing. He is so strong. I am humbled by him.

After we got past that event, Nicholas had several appointments, required testing, and then to cap the week a dose of medicine in the hospital. All of the days were long, and we had a day without anything planned where we had decided we'd go to the zoo or aquarium. We didn't do anything that day but rest and shop. Nicholas had his heart set on toys from the Disney and Lego stores, and he is a good Nordstrom shopper so that was the ticket for the day.  We got lots of play in at our favorite park.

Everywhere we went people would remark about how caring Jack is for his brothers, and how kind he is and that he really has a special place in his heart for his brothers.  He does.  He is a really good brother.

While on the trip, we got to meet with Genetics to talk about our sons. Alex was front and center during that appointment because Nick gets so much focus being in a clinical trial. What was most striking was the mutual admiration our genetics team and our family have for one another. I was so moved when the genetics team recognized that we have two children with a life limiting illness, and how inspiring we are as a family. I felt humbled by that recognition but equally grateful and admiring of those who have helped us take such good care of our children.  I can't even paint a good enough picture of this visit for you to understand just how wonderful this interaction felt, it was uplifting and remarkable - something to remember. Alex suffered so much early on from this disease and really this appointment was acknowledgement that we as a family have been doing all we can to optimize his health and give him the best opportunity for the best life!  One last time it was just good to hear someone acknowledge that we have two children with this awful disease.

So while August is usually remembered as a leisurely summertime pace filled with days at the pool, soaking up the sun, and playing at the park, ours was sort of that but also doing some much needed hardwork to keep Hunter Syndrome in check and our kids in the best health possible! We know that we are the sum of the people around us who look out for us every step of the way helping us through this hard journey of dealing with a rare disease and living a good life while doing it. Goodbye August, so glad you're a distant memory now.

Much love,

Amy

Trust

We trust society every day with our special needs children and adults. We trust you, and that trust is the ultimate responsibility. These are not just our children, these are society's children.  These are not just our children, these are America's children, the World's children.  Setting aside the fear that our children's disease may ultimately take their lives, we fear that someone might hurt them physically, mentally or abuse them by not taking care of their needs. We fear they may wander, get lost or that someone may shirk their ultimate responsibility for these children, our children.

Let me explain to you how brave you have to be as a parent or caregiver to trust anyone with your special needs children. Here is a picture of a card I pinned to my child when he went to school on one of his first days.

Pinned to his shirt

It's brave to simply put your child in someone else's care, someone else's car or someone's bus. It's brave to trust a teacher, an aid, a therapist, a doctor, a nurse, a babsitter, a surgeon, a friend, a neighbor, and mostly a stranger. It's brave.

Most of society deserves this trust, absolutely.  There is no doubt that there are amazing people out there who enrich the lives of these children, even save the lives of these children who without them these children would not thrive. But, there is always a small fear that someone who is not worthy of this trust will come in contact with these children. It's up to us to care for others.  It's up to all of us to intervene when something wrong is happening, to teach others that this trust is a gift and the ultimate responsibility. It's up to us to be worthy of this trust.

Whenever I am talking to someone who may not be putting our child's interests ahead of their own, I ask for "compassion".  I ask for understanding and help in helping our sons, realizing that our sons have a much greater responsibility as they fight for their lives and their quality of life against a disease, a disease that threatens every day to end their lives. For this, I ask always for compassion and understanding putting yourself aside for the good of another human being, a child. I'm forever grateful for the love and compassion extended to my children when I'm not with them.  Thank you.

Amy

Do Your Research

Do your research. These are three of my least favorite words because they're usually used when someone is trying to educate you by politely saying (in a way) you're misguided and you haven't done your research. Or put another way, I know more than you because I have done my research, whether the sources of such research are trustworthy or not.

I am personally a fan of supporting evidence, data, and facts but sometimes there aren't any or any you can believe. In the rare disease community, I can't tell you how many times I have seen these words, "Do Your Research". But how?  In rare disease, there are topics that aren't formally studied, widely known, or well documented. When you're managing a rare disease, research is going to come up a lot. Whether you're working an issue with your doctor, talking to another parent or trying to make an agonizing decision research and data is going to be part of that conversation.  It could be data you've collected yourself or data that's formally published.

Here's how we have dealt with researching a topic;

1.) Go to the conferences.

So much information is shared at gatherings of disease communities with patients, parents and experts all present. Organizational conferences, both global and regional. What do I mean?  The National MPS Society's Conference, Global Gene's, and others,  Can't attend in person?  If they offer a streaming connection try to pop in, and certainly catch up with someone who attended the conference in person.

We have learned so much from the discussion, and much of it is not what was on the slides.

One example is we learned about more permanent ear tubes at one of the conferences, and were able to tell our Ear Nose and Throat (Otolarynologist) about this guidance to prevent repeated PE tube placements, and get a more viable long term solution in place for one of our sons.

Admittedly, I would like to go to all the conferences more often. I am crafting a strategy to get some help and send knowledgeable representatives on our behalf. We'll see if that works.

2) Ask questions of the experts

Do not be afraid to ask questions, speakers do not want to speak to a room of crickets.  Many are interested in engaging with you. Don't be intimidated by jargon or the speaker's pedigree, if the speaker is intelligent and truly an expert, that person will be able to bring their information to anyone's level of understanding.

Just because they are experts doesn't mean they know everything either. It is my greatest pet peeve when impressionable people leave thinking what that person said is the end all be all, question the experts too...does what he said apply to my situation?  Could he or she have some sort of bias in answering that question?  Was that response based on fact or rooted in ego?  Was that even an answer?

Believe me. I have heard it all. Experts think one thing or the other doesn't work, one is willing to try, another wants to see data, and most parents says it works.  You have to take in the whole picture not just rely on one source.

Many times the experts don't even know. It's just one more element of data you can gather to help you become educated or gather the facts on your mission to a decision or to support what you need to do for your loved one.

My favorite, favorite day is when experts don't agree!  I love, love, love it!  It's like my birthday (and I am serious, not sarcastic)! The debate is interesting, thought provoking, always citing one study over another, challenging the typical way to think about something, and asserting a different position. I love it. Gives me more to think about.

3.) Troll (and not in a mean way) the research sites and publications

Despite what anyone tells you hit Google, hit everything looking for your key words.

There are countless sites out there with medical information. PubMed, Clinical Trials.gov, science magazines, Foreign Government Healthcare sites, etc.  Experts, physicians, other parents, your disease community or national organization will tell you which sites they trust and don't or have resources themselves. Many times the pharmaceutical companies have studied the disease and have resources.  Question them always though, always. Some materials I can't even use because they're so general they won't give the proper direction for the care of my sons, e.g. materials around education supports do not help for one of my sons, and would provide misguided information to the teacher. I have lined out, and edited documents to assist in his education.  I bring research to IEP meetings to see what others think.

I have also used general research to support heading any direction. Regarding sensoneural hearing loss, I have provided research that was drawing a correlation between hearing loss and behavior. In short, I try to read the material and determine how it applies to our children or given situation. I make note of any questions, or irrelevant facts when putting it forward to assist someone else.

Experts also love to tell you when you've hit upon a trusted source, and they'll many times use what you've provided them. When you get someone to say, "ooo let me get that link or I am going to buy a copy of that!" You're on to something great then.

4.) Believe some social media posts but question the context

This is a source of information, absolutely. Take the pieces you can use from social media and question the others.  There's a lot of brevity in social media, and all the facts can't be posted in a short blurb.  You can learn a lot from engaging with others on social media but you'll really need to learn to tease out the nugget. Things that can be confusing are the context, here are some examples:

I say, "My son is doing really well, almost typical"

Someone who sees that doesn't understand the context of that post and may draw conclusions that it's one therapy, or treatment or it's a miracle, etc.

Another example, " I know that the bone marrow transplant is working." How does this person know that? Question the context. Was an MRI done?  Is this parental intuition?

Another post: "My son is talking!"  You don't know the facts around why or how and are only left to draw your own conclusions.

The things you can take away are follow up conversations, meeting the individual in person, or asking who or what helped them. Sometimes even the followup doesn't help but at least you tried to get at the root of the information that could help you.

Engaging in private rooms on social media, and in private conversations have been so beneficial where the facts and help really come out. The surgical information and expert guidance can be invaluable, and is that nugget that you've been searching for!

Best things I have ever received on social media are links to things, publications, people, experts, and tips.  Twitter, Facebook, and LinkedIn dump a lot of information into my brain about links and publications.

5.) Engage Offline

Same guidance here. Meet in person, talk on the phone. I am a huge consumer of online information. I recently put a myChart message in questioning something and asked for a call because I wanted the chance to dialogue about any conclusions the other person may be forming about what I said in the message. Sometimes talking live is the best option.

6.) Admit what you don't know

This is hard for some, especially those who deem themselves experts. When my son did oxygen therapy, I admitted I didn't know if it was going to work. I documented pros and cons and admitted when I wasn't sure I could attribute the outcome to this or that. Including the unknown is par for the course, everyone is going to have to get comfortable with the unknown - to some this is called risk but it can be calculated risk.  In action, the best experts admit that they could be wrong or what they don't know. This isn't a bad practice to adopt as a parent as well. Be authentic and put it out there.

7.) Talk to parents whose kids don't have the same rare disease as yours: cancer survivors, other people in the middle of or past another battle , or with those who have no battle at all

The most valuable information about ports have come from chemotherapy patients. The most valuable information about oxygen therapy has come from pediatric brain tumor patients and survivors. The most valuable information about PE tubes has come from parents of typical kids who have chronic ear infections. The most valuable information about IEPs has come from parents of kids with concussions or some sort of other injury or chronic illness. The most valuable diet information has come from breast cancer survivors and those living with MS. Caregiver guidance, from those caring for adults with cancer and Alzheimer disease.

Everyone is a resource, and they offer their unique position of distance from your rare disease. They may offer something you've never thought of before or even seen because you're too close to what's happening in your world.


8.) Call baloney (bullshit) and mean it. Everything has some sort of bias, and you have to look to eliminate it.

No matter what it is, once you have vetted the source, identified bias and have determined it's not legit ,eliminate the story, the study, the data or information from what you're considering to make your decision, support your case or guide you. Throw it out, trash it, don't look at it again.

A little harsh, maybe, but you don't have time to waste. I have been known to have this immediate reaction to something, and that's OK. Just say bullshit, out loud even.

Too good to be true? Your gut instinct is probably right.

Call in the expert opinion, ask for confirmation of your assessment. When we've really had tough decisions to make we've called upon an expert to give us a second opinion. I can't tell you how many times I am reciting my plan and conclusion to an expert, and the person says, "yes, ah ha, yes ah ha yes, that's it - right."

Never ignore data just because you don't like it, you still have to stare it down.

9.) Go on location

Many, many people have recommended this..thinking of that new hospital or doctor? Go there. I am constantly fed info from MPS I, Hurler Syndrome, parents who tell me who is good for what, and who has messed up what. We'll be going on location to another state or hospital based on their guidance to see it for ourselves for a very specific technique and service that has refined its technique for a surgery that most MPS kids need to have in their lifetime.

10.) Make your own decision

After you've done all your research, trust yourself.  You're going to have to live with the decision. What does common sense tell you?  Do you want to go with or bet against the data? Do you have sound reasoning to do so?

Don't vacillate on your decision. You've made it and there will be plenty more to make. Going back and forth and questioning yourself only undermines what you've done. Re-visit when new data is presented but don't undermine the decision you've made - you're just fine tuning your decision making engine.  You're going to make mistakes but just make the best supported decision you can.

I know how hard these decisions are...you never know if you're doing the right thing but you choose a path and pursue it. We have had to decide the right time to pursue spinal surgery on very, very young children. I was 36 when that decision had to be made.  We have had to decide between different treatment approaches each one carrying some form or risk, and the potential of morbidity.  These are really hard decisions, and those decisions came when I was 34 & 36 with each child's diagnosis.

After all that, will you ever say to anyone, "Do Your Research" or maybe you just won't say that to me anymore, and I gladly thank you for that. Research is in the eye of the beholder especially when it's an "undocumented" topic. Many times the person who is saying that very statement has gone through a process to compile what has supported a decision they've made, this isn't uncommon and anything you can't do for yourself.

Lastly, don't let people always tell you, "oh we have to study that". Sometimes it's going to be a cold day in hell before a study ever kicks off on X topic, push back and say but here's what I have collected. If you can make a study happen, that would be very welcome, but until then I have to work on the data I have and do what's right.

Go forth and make the best decision you can because not making a decision is also a decision.

Be well,

Amy

Design Thinking a Rare Disease to its Death

In late October 2009, I was picked by a disease to become a lifetime observer of Hunter Syndrome, a disease that wants to kill my children. Hunter Syndrome is a rare, genetic disease caused by a gene mutation that inhibits the body from producing an enzyme required to break down cellular waste causing it to build up in an effected person’s vital organs leading to an early death in the 1st or 2nd decade of life. Every day since I’ve plotted this disease’s death, and pictured my children somehow thriving. Little did this disease know it was picking on the family of a design thinker, a mother with over 21 years of experience in the tech industry, an optimist, a chronic over achiever, and a problem solver. In my 21 years of Tech experience, I have learned and used a remarkable amount of tools, methods, and ways of thinking; and I am not talking about software. I’m talking about Sigma, Vision Maps, Agile, Design Thinking, Qualitative and Quantitative analysis, troubleshooting techniques…I could go on and on. Every year I learn something that helps me to begin to complete the puzzle, and add one more tool to my tool box waiting for the opportunity to deploy it. Recently, classes at Stanford’s Center for Professional Development focusing on innovation and entrepreneurship helped add some tools that bolster what I was already doing in my career. It’s in those studies that I realized caregivers can be natural design thinkers. In the role of the caregiver or the parent, we’re using these tools to design think a rare disease to its death. Design Thinking puts the human at the center of design. In my experience as a parent of two children with a rare disease, we’re instinctually putting our children at the center of design.

Empathizing and Observing

This rare disease has anointed me a lifetime pass to empathy and observation in a multitude of environments. I see everything. Sometimes I sit quiet, sometimes I ask questions, sometimes I am doing things to help, sometimes I talk and educate, but most of the time I am listening. This role allows you to take in a lot about your surroundings; the challenges of the people involved in care, the industries and various parties involved, the systems and process, and the obstacles. Observation gives us the ability to understand what problem needs focus and attention, and ensure we’re focused on the right problem. We spend so much time in a variety of environments, and engage in dialog with so many different roles many of whom will offer their specific challenges and their point of view. As the Design Thinking Caregiver it’s up to us to sort out the opportunity from the backburner concepts, and move some of those concepts forward. In a given year, we’ll meet physicians, pharmacists, healthcare leadership, researchers, students, parents and caregivers of other patients with other diseases, therapists, teachers, academic administration, inventors, writers, etc. From these interactions there is always a takeaway, such as from a Cancer Patient’s Mom learning about how to explore alternative therapies, and nutrition to influence the outcome of the disease and learning how to cope with the possibility of early death. We bear the enormous weight of knowledge and experience in some of the most heart wrenching and desperate of situations. It is that knowledge that makes us desperate for solutions.

Defining and Prototyping

Very few rare diseases have a treatment; it is estimated by Global Genes and the EveryLife Foundation that “95% of rare diseases do not have an FDA approved treatment”. Very few rare diseases have a treatment that is as efficient as nature and the human body. Treatments can rarely address all areas of the human body that the disease effects. What’s an example of this? Some treatments have molecules too large to allow the blood brain barrier, a natural protection mechanism in the brain, to pass the treatment through to treat the brain and central nervous system. Additionally, no rare diseases have a cure. So opportunity is all around us; and in searching for solutions we develop the most difficult user stories, use cases, and descriptions of problems to solve. These stories are shared in blogs, to physicians, to researchers, to regulatory organizations and to the associations that advocate for our diseases. These stories become the foundation for searching for solutions.

In the absence of a solution, caregivers and parents are prototyping solutions to our problems. Prototyping of a solutions range from one extreme to another from starting your own biotech company, a non-profit to fund research to adopting alternative treatments that are generally available such as nutrition, supplements, essential oils, oxygen therapy, light therapy, and on and on. In the absence of a treatment, we’re prototyping solutions, observing the results, and noting the trial and error. Parents and caregivers get educated quickly and create roles for themselves. Frankly it’s hard to stay away from being part of the solution.

We’re solving problems that revolve around the central problem of the disease. They’re big problems; such as how to educate a child with such a disease, how best to achieve optimal health, how to keep these children safe by engineering solutions to their physical environment such as their bedrooms.

When presented with new challenges, we ask ourselves what has changed, and what brings this new challenge to light? In the presence of solutions, we’re thinking about how we can improve those solutions. How can we reduce the number of needle sticks our children get? If they are stuck with a needle, how can access be more accurate? On the topic of port infections, when many of our children are young and teething and get fevers regularly, could a home pre-test kit looking for indication of infection be possible?

We solve every day problems too such as how do I keep my child safe? How do I ensure someone who doesn’t sleep stays in his or her room at night? The ideas and scope of problems are at times boundless but many find temporary solutions until something better comes along.

Life-cycling for Life

Those involved with caregiving know that it is a lifecycle. You are revisiting, revising, identifying the problem, and trying to work on the right one. When we are developing prototypes, scraping what doesn’t work, collaborating, and solving, whether we know it or not, we’re using design thinking. You’ll see us on your boards, your panels, your committees, in your surveys, and in your halls advocating for solutions and showing you the problems seen by our eyes, heard by our ears because for us, it means everything to have a solution.

Test my comments, engage a caregiver or parent. See what he or she has to offer. Design Thinking could be just what rare disease needs with intense collaboration pushing to macro and micro solutions that could even result in disruptive, innovative results. To that end, we need to come together and be committed to the life cycle of revisiting and revising using Design Thinking keeping our most precious humans at the center of design.