Hope is a tricky thing

Hope is a tricky thing when your child is facing a degenerative, incurable, terminal disease.  Hope allows you to dream, to plan for a future, to hear your sons dreams of going to college become an inventor/scientist/mechanic/engineer/construction worker and author and dream with him of this. Reality keeps you grounded in the fact that high school graduation may or may not be in the cards for him.  Hope latches on to every report regarding breakthroughs in science regarding neurological disorders.  Reality knows that other parents before us have done the same thing and still there is no treatment or cure. 

Hope is a tricky thing in the everyday living of life.  Hope is present in the everyday moments; each day that is a good day, gives hope for another good day.  A good day is when there is more laughter than tears, when joy spills out in giggles and feet that bounce up and down off the ground in uncontainable excitement.  The memory of these days helps and gives you hope on the days when tears, frustration, and struggle reign for most of the day.  Most days are a mix of joy, laughter, snuggles, frustration, whining, and struggle, which is probably true for most people.  Right now, Peter is doing well, the disease does not seem to be progressing much and for that we are thankful.  We hope this continues to be true for a long time, but we also know that disease progression is always on the horizon.

 

Hope is also a tricky thing when it comes to scientific breakthroughs and clinical trials.  On 

Wednesday 11/15 we have a Zoom call that will give us more information about a clinical trial for Battens CLN3.  We will learn where the sites will be and how far we will need to travel every 6 months.  We will learn more details about how to enroll, when it will start and other important details.  We will also learn more information about if efforts to convince the FDA that a placebo arm for this trail is not needed were successful. 

 

The week before our call CLN2 Batten’s parents were dealt a devasting blow that the pharmaceutical company that was working on a promising drug for CLN2 has pulled funding from that project.  So, while we are hopeful of things on the horizon, other parents are grappling with hopelessness of another closed door.  For us even if Peter is a part of the half of the study that receive the placebo, the treatment is still (hopefully) close to being an approved treatment.   Being an approved treatment means that it is accessible to CLN3 families as an approved treatment and should be covered by insurance and not an out-of-pocket expense. 

 

Hope is a tricky thing, but when our hope is in Christ we can be assured not of easy answers or cure, we can be assured of His presence with us and His peace that passes all understanding and His grace and mercy which are new every morning. It is our desire that we can continue to find light, joy, and hope in each day no matter what the circumstances.  This is only possible because of our faith in Jesus Christ, and the reality that our hope is found in Him.  Scientific breakthroughs may or may not happen, clinical trials get canceled, test results show disease progression, death and the journey towards it is a natural part of life, if we place our only hope in those things, we will be disappointed.  But the day to day living out of our faith finds us placing our hope first in Christ as well as placing hope in these human things for a chance at more days to choose joy with our Batten’s warrior.  

 

A side note: Joe and I are doing fine.  Most times we are able to focus on the present and make the most of the moment in front of us.  This blog just is a snapshot of some of the things bouncing around in our head.  

Solve for X

In high school I loved algebra.  At first I was frustrated by it…why were there letters in math.  Don’t even get me started on word problems from geometry.  But once I understood algebra better it became something I enjoyed.  The problem could have all sorts of letters and numbers and parenthesis but at the heart of it you were breaking a larger problem down into something manageable and workable.  Figure out what you know, figure out what you need to do and start there.  There is a lot about high school I don’t remember.  But I remember my math class and my math teacher and I remember the joy I found in solving complex math problems. 

Fast forward a few decades later in some ways it feels like life is a complex math problem.  Only there are no hard and fast rules.  Sometimes you think you are close to solving for x and realize you should be solving for y.  Or you almost have a solution for x and then life throws in a few more square roots and parenthesis and the solution you thought you had is out the window.  

Another life lesson I remember from high school math is to break down the problem.  You can easily get overwhelmed if you try to look at the whole prob
lem.  Figure out the smaller first step and do that and then the next step, etc.  My dissertation chair asked me this question early in my dissertation journey, “how do you eat an elephant?”  The answer, one bite at a time.   Again break the larger problem into bite size pieces. 

Joe and I tackle many of life’s tasks and problems in this way.  But sometimes we are faced with problems that have no solution. Now we are people of faith and we know that God is a God of the impossible and of miracles.  We firmly believe that Peter will be healed, whether be through the miracle of a scientific breakthrough, His healing touch or when he is ultimately healed in heaven.  We also have the hope and the assurance that God is with us in the day to day living until the healing comes in which ever manner it comes.  

Peter’s diagnosis with Batten’s disease did not come with a solvable equation.  His condition is progressive, degenerative and fatal with no current treatment or cure.  How do we solve for x when there is nothing to solve for?  We have to focus on the present day problems and try to figure how to solve those problems.   This is how we break that larger unsolvable problem into smaller solvable and manageable problems.  We cannot give Peter back his vision, but we can help describe the world and what is happening around him.  We cannot stop Peter’s fading memory but we can retell stories, we can help him remember when he forgets, we can give grace when he is frustrated with his memory challenges.  We cannot stop Peter’s sensory issues but we can do everything can to keep him from being overstimulated and when he is help him regulate.   We cannot predict how long Peter will maintain his current abilities but we can do everything we can to make his current wishes come true.  Now this is within reason of course, he in many ways is still a typical 8 year old boy who asks for unreasonable/unrealistic things like a pony or the entire set of a toy that he will play with once and then forget about; so while we do say yes a lot we also say no as well.  

Here are a few times we were able to say yes at times, with the help of the awesome community we are a part of; 

·

      He loved being a part of a soccer team in the spring and scoring a goal, 

·      He is currently a part of a cross country running club and enjoying it, 

·      He got to be the visiting author at a literacy event for a nearby school district and he loved answering the questions about writing his book, 

·      He entered four different items in the local fair and he placed in three of the four, which he was pretty proud of, 

·      He continues to enjoy karate and is learning to do all sorts of cool things.  

·      Sometimes saying yes means agreeing to playing a board game, having a dance party, going for a walk, a scooter ride or a bike ride.  Sometimes it means reading another chapter of a book, having breakfast for dinner, or listening to a song.  

·      Also sometimes part of yes to one thing means no to something else…one of the things Peter asked for was more times at home as a family so that has meant shifting some things around and stepping back from other things so that we can say yes to that. 

 

I won’t lie there are days where the constant problem solving can be tiring.  Add in a 15 month old that has learned to walk, run, and climb, who loves to get into things and you have a recipe for exhaustion.  But also for a lot of joy and laughter.  There are times when our attempt to solve for x doesn’t work and we are all tired and frustrated.  On those days we are thankful for grace, forgiveness and a chance to try again tomorrow.  

We also have hope on the horizon because there is a clinical trail that should be opening in the beginning of 2024 for a drug that has proven effective in slowing the progression of Batten’s disease in those over 17.   The only down side is that there will be a double blind placebo but it is still hopeful because the trial gets the drug closer to being widely available. 

 

Until next time; never underestimate the speed of a 15 month old, ever. :) 

 

  

Full

Our hearts, our minds, and our lives are full.  The fullness is both good and bad.  Full in the good sense because we have had wonderful times with family and friends.  We have been able to make amazing memories.  Our calendars have been full of trips, celebrations, adventures, camps, activities, appointments, and meetings.  Our days have been full of laughter, of fun places, new adventures, joy, new activities.  Our to-do lists have been checked off ministry tasks, projects, adventures, fun, celebratory, normal every-day tasks and at times necessary unwanted items.    

Sometimes the fullness was the weight of everything, the unknown’s of the future, the un-predictableness of the disease and its effects on Peter and on us, the need for decisions and predictions.  Sometimes life just feels heavy.  Sometimes the fullness was emotions, so many emotions, sometimes good sometimes bad.  Big emotions, good or bad, are difficult to manage and even more when paired with a different routine or none at all mixed with new places.  Sometimes we are just full of tired.  Sometimes I have been full of anxiety other days Peter has been, thankfully usually Joe and Jacob are pretty chill (unless we are trying to get Jacob to nap…).  We strive and want to be full of joy and peace but that is not always the case.  

 

Even with all the unknowns we can be full of hope as we live in the moment.  We try to be present in each moment and chose to see the joy in situations.  There will always be things to be bitter about, or to be angry about or to be hurt by; but those emotions rob us of the ability to present in the moment.  There will also always be things to give thanks for, things to find joy in and moments of grace and peace.  It is all in what we look for, what we focus on, and what we dwell on and in.  

 

Don’t mishear me or put me on some pedestal, this is what I strive for, what I want to do, but not always where I am.   In fact, I am often feeling guilty for falling short of that goal.  Patience at times in short supply and frustrations rise and at times voices do to.   My prayer lately has been for grace to quickly forgive and forget and the ability to move on past the hard and big emotions or situation.   My prayer is also that I am quick to ask for forgiveness when I mess up, quick to calm down when emotions run high, to seek to understand more and not worry about being right.  

 

If you are still reading and are interested in what the fullness of the summer entailed here is a brief recap. 

Since the last blog we have done numerous tv and newspaper interviews sharing about Pete’s story and his book, Peter finished another soccer season and scored a goal, we had an IEP meeting, and Peter finished out his 2^nd grade year.   Summer started off with celebrating Joe’s birthday, then we headed off to Indianapolis for General Assembly.  There we saw countless wonderful friends and ministry partners.  Lots of hugs and laughs were exchanged.  After assembly we returned to Ohio and celebrated Peter’s birthday followed by his party that weekend.  Peter was able to visit Cedar Point through an organization called A Kid Again and has some new favorite rollercoasters.  Jacob turned 1 and we discovered he loves cake.  The month of celebration ended with Joe and I celebrating our 10 year anniversary.  

At the end of June we went to Pennsylvania for some time with Joe’s family.  It was wonderful to see both of his aunts, one uncle and 1 cousin in western PA.  On the other side of the state we spent several days with Joe’s sister, brother and his family and his parents.  It was wonderful to be together as a whole family.  After PA we traveled to Niagara Falls, NY and spent time with my side of the family and taking in the sites.  We returned early because Peter wasn’t feeling well but thankfully he recovered quickly and we will able to close out our vacation time with a trip to King’s Island.  The next week started with Peter’s 6 month checkup at Nationwide followed by a week of various different kinds of meetings and appointments.  The following week Peter participated in a day camp at the Ohio State School for the Blind.  It was a horticulture camp and he enjoyed it very much.  We were also  a part of the Loudonville community vbs.  And Family Camp/District assembly was that week as well.  Primary kids church camp started off the next week and Joe and Peter made some awesome memories together.  Then things started to slow down a bit and we focused on doing some of things we wanted to do but hadn’t had a chance yet because of the fullness of the summer.  

 

As you can see it has been full.  Sprinkled throughout the busyness there have been moments of laughter and joy and moments of being overwhelmed, of stress, and anxiety.  There have been highs and lows.  August should be a little calmer and we are preparing for a new school year on the 21^st.  

1 year anniversary of diagnosis day

 I remember one year ago very clearly.  We had appointment for Peter at Cleveland Clinic with a Retina Specialist.  We were hoping for clearer answers on why Peters visions was disappearing so quickly.  We planned to get lunch in Cleveland and go to one of the beaches by the lake afterwards.  I had trouble finding parking and had to back out of several interesting places.  In the waiting room between test and appointments we were reading “Odder” to him.  It is a book about a sea otter that gets lost and details his adventures getting back to his family.  

 

We were in the room with the retina specialist when we first heard the words Battens Disease.  He found the diagnosis when combing through his myChart file.  Our genetics specialist had buried the diagnosis in his file while she confirmed the results, her call would come the next day.   The doctor at Cleveland clinic said that the Batten’s diagnosis was consistent with what he was seeing in his retina.  He apologized to us.  He printed off a paper explaining more about Batten’s disease.  His look and demeanor told me it was not a hopeful diagnosis.  

 

I skimmed the first few pages of the paper while we drove to lunch and then the beach but didn’t really look at it in depth until we started our drive home.  Peter was in the back seat oblivious to what was going on.  He was listening to an audiobook.  I remember reading the phrase life expectancy late teens early 20s.  I remember throwing the paper into the console between Joe and I and sitting in silence.  I did not know how to process what I was reading.  My son had a life expectancy.  He would likely pass away before he was fully an adult.  Not only that, but in the years to come he would progressively lose all of his abilities.  His vision loss was just the first in the series of things he would lose until the disease ultimately takes his life.  Tears fell silently down my checks.  I was thankful that Peter could not see his momma face when he asked a question from the back seat.  Eventually I picked the paper back up and continued reading about this disease that would slowly steal my first born from me.  The paper detailed all the different types of Batten’s disease I started skipping over the parts of paper that described those, I couldn’t process it all.   The disease was genetic I learned.  Both Joe and I apparently carried the same mutation that when joined together has a 1 in 4 chance of resulting in an Batten affected child.   Peter had lost the genetic lottery.  

 

We arrived home and went through the motions of eating dinner.  Keeping up appearances or least at the sounds and motions of normalcy for Peter.  I still hadn’t been able to share with Joe the full scope of his diagnosis.  It was also the 2^nd Thursday of the month which for us meant our monthly board meeting.  I had already texted and asked for it to be moved to our home.  So we busied ourselves with preparing for that.  Trying to forget the new reality we now lived.  After the meeting was over and Peter was asleep I remember falling into Joe’s arms and again feeling the weight of it all without the distraction of busyness or the strong face of parenting.  I was 6 months pregnant at the time so my emotions on a normal day were heightened, that evening I was a mess.  That night I searched the internet for more information on Batten’s Disease CLN3.  There was not a lot of information but what there was gave no relief to the anguish.  No treatment, No Cure, Progressive, Degenerative, Seizures, Dementia, Terminal were all words that screamed at me from articles and stories I was finding.  I remember going to sit in Peters room and I just stared at him.  

 

Fast forward one year later, and the evening of May 12^th I found myself sitting and staring at Peter again while he slept.  It has been a full year.  We have tried our best to cram as much life as we could into that year.  There have been moments of happiness, laughter, and joy.  There have also been moments filled with questions, fear, frustration, tears, pain, and sorrow.  As much as we could we have tried to make the most of each moment that we have.  We have tried to do little and big things to enjoy the good times we have together.  With the help of our community and other organizations we have built a tree house, we went to Disney, we went back to Tennessee, we tried to fill as many days as possible with laughter, love and fulfilled dreams.  

 

One of those dreams was to write a book.  In first grade Peter started talking about being an author.  He has several stories he recorded or dictated on his iPad.  We thought it was a bit a fad that would pass but he continued to say he wanted to be an author.  So we started talking about what he would write about.  From there emerged the idea of telling the story of some of the adventures Peter goes on from the point of view of his white cane, marshmallow.  We worked on the story over a few weeks.  Peter took his story to school and people loved it.  Peters TVI connected us with a children’s book publisher.  And Peters dream of being a published author became a reality.  May 12^th, 2022 was a dark day filled with questions, uncertainty, sorrow and fear.  May 12^th, 2023 was a day filled with hope, with community support, with joy and excitement.  

 

Over 200 people filled the downstairs of the Loudonville library.  Each book got a stamp of Peter signature from 1^st grade and a Braille sticker that said Love, Peter.  There were pretzel rods decorated to be like mini marshmallow canes, there were braille and tactile resources for people to explore.  There was lots of conversation, laughter, and pictures.  It was an uplifting event where many from the Loudonville Community and beyond came out in support of Peter and his book.  It was wonderful to focus on making dreams come true and reminding people that differently abled doesn’t not mean unable.  Peter got to be a published author, have book signing, be on TV and will be in the newspaper.  May 12^th 2023 was filled with moments we will always remember.   When his Battens disease causes him to forget we will be able to remember for Peter and tell him all about that awesome day that it was.  

Choose Joy - Rare disease day

Today is Rare Disease Day.  A day I didn’t know existed until recently, nor did I understand its significance.  Rare diseases do not always receive the same press, funding, research etc. as more common diseases because the affected population is smaller.  Family members of those affected by rare diseases end up becoming advocates for and educators about the disease affecting their loved one with doctors, school, insurance companies, etc.  Often there is little knowledge or treatment of rare diseases.  So February 28^th is set aside each year to raise awareness and knowledge about rare diseases.   Peter is our rare disease hero, and I will gladly learn everything I can about our particular rare disease and advocate for a treatment or cure.  

If  you are interested here is a good fact sheet on the rare disease that affects Peter.  https://amicusrx.com/wp-content/uploads/2020/08/guide-to-batten-disease.pdf  

 

Recently I was a part of our community’s Ash Wednesday service.  As people went forward, I began to wonder how many of those receiving ashes would transition to ashes and dust before the next Ash Wednesday.  We often talk about not knowing what tomorrow will hold and this is true it is also true we do not know what the next year will hold. 

 

Sometimes I struggle with the ashes and dust part of our reality, specifically Peter’s.  This time last year our biggest struggle was learning to do life with Peter’s diminishing vision and not having answers to why.  Now we have answers and vision loss is only the beginning of the difficult things to come.  We have made shifts in how we live life, parent, and spend our time and resources.  Shifts that help to focus on the present moment and not get lost in the what ifs and whens of the future.  I will be honest some days I am really good at that.  Other days I struggle, I struggle with expectations, I struggle with planning for the future, I struggle with grief over what is to come, I struggle with anger, and a host of other emotions.  I am learning I am needing to give myself space and time to be there with those emotions, but I cannot stay there.  If I stay there then I am robbing myself of the present moment.  Worrying about tomorrow robs today of my mental presence, getting angry about the situation steals my focus from the life and memories happening right now.  

 

After reading a book of another mama’s story of her journey with her two sons with a different version of Batten’s disease I decided to have a phrase or a mantra or whatever you want to call it.  Here is the link to the book.  https://a.co/d/0AFpkkP 
My phrase is “Choose Joy”.  We always have a choice in how we look at a situation, in how we handle a situation, on how we remember something, I am striving to remember the joy of the past moments, to choose joy in my perspective of what is happening in the moment.   I promise it is a work very much in progress.  Sometimes the furthest thing from my mind is joy.  However, when I am intentional in allowing God to change my perspective, there is a peace that comes, there can be joy, happiness, and laughter even in the midst of the hard and difficult times.    

 

Jacob is mobile now; he is rolling and backwards scooting all over the place.  He has even started playing hide and seek.  See if you can find him in the picture below (I promise I always knew where he was and he was safe).   He is still toothless but very much teething.  He loves to watch his brother and our dog.  

 

Peter is doing well, continuing to learn Braille, and is doing well in school.  He is ready for the warmer weather so he can play outs
ide more.  But also wants it to snow so he can go sledding.  He has written a book and we are working to get it published.  

 

Until next time – Be intentional about choosing joy no matter what life throws at you.  

A full and blessed January

January has been quite the month for the Heath family. Just for fun we will work our way through backwards.

 

Jacob is now 7 months and rolling both ways and scooting and wiggling his way all over the place. He is also drooling pools and chewing on anything he can get in his mouth on. He has tried and loved almost all of the 9 foods he has tried. He watches whenever we eat and he

doesn’t understand when we don’t share. Cocoa (our dog) is also enjoying having another food dropper in our house. Jacob continues to be a joy and we are so thankful he is a part of our

family.

Our family has joined the pickleball craze. We received a pickleball set for Christmas. Joe and I began learning a few weeks ago and are enjoying a fun way to be active together. Recently, there was a two-hour late start for Peter and we had the court booked for 8:30 to 9:30am so Grandma and Grandpa hung out with Jacob as planned and Peter came with us to play pickleball a
nd loved it.

 

Peter continues to have his good days and not so good days. Most days are mostly good and for that we are grateful. He got his 2nd quarter report card and scores from recent testing.    Despite his challenges he has 3rd grade level reading comprehension and is on grade level for math. He is working hard at learning Braille.  He is not reading in Braille yet but he is working towards it.  He has learned almost all of his letters to both identify and type. He is now working on learning contracted Braille. He can type pretty fast on his Perkins Brailler. We are very proud of him and how hard he works. Peter had his 6 month appointment with his Batten’s team and he is doing well. The disease doesn’t seem to be progressing much right now which is great. Other than a cure or treatment, no progression is the best we can hope for.

 

The first week in January our family enjoyed a once in lifetime trip to Disney and stayed at Give Kids the World Village. It was a week filled with amazing memories, lots of laughter, joy and walking oh so much walking. Joe’s sister Joelle also spent the week with us. Jacob got to spend special time with Grandma and Grandpa H. Peter loves roller coasters that are 3’s, for  reference Thunder Mountain is a 3. He also loved the Slinky Dog ride at Hollywood Studios, and the Test Track ride at Epcot. Give Kids the World Village is an experience and a blessing all in itself. There was an ice cream pallor open all day. I think there was only one day we didn’t get ice cream. There was a wishing well, with the coins provided, that Peter loved. It made different noises when you threw the coins in (including burping). He got to go horseback riding and go trick or treating. There was a golf cart that delivered cookies and you could call for a pizza anytime. Peter also loved meeting Mickey Mouse. The Village had a special time that wish kids could meet and interact with Mickey, without all the crowds and lines that happen at Disney. While our time there was so special Joe and I both agree that we prefer Loudonville traffic over Orlando traffic.

 

Our wish trip was an amazing week that we focused on Peter and doing all we could to make it

a wonderful once in a lifetime trip. The amazing blessings of the trip (limited waiting, free

access to parks, etc) were only possible because of a life altering, life threatening, or fatal

illness. We met other wish families, who are struggling with their own diagnoses. Some

families were celebrating the last treatment and being cured, for other families there is no cure

and the trip was a needed break.

 

Just like much of life, January was filled with amazing blessings and moments of struggle.

The blessings outweighed the struggling moments this month and for that we are grateful and

will try to cherish those moments for the times that the struggles are greater.

 

We are so thankful for the support, prayers, and love we have received from our friends and

family. Peter may not have won the genetic lottery but he did win the best group of friends and

family a kid can have.

 

Until next time Choose Joy no matter if you are watching fireworks over a castle or watching

your dreams of the future crumble.