The Librarian of Congress and Peter

Peter’s life may not look like what we thought it would, but it has been full of life, amazing adventures, and once in a lifetime experiences. Born in South Africa he had 32 stamps on his passport by the time he was 5. He has been apart of numerous Work and Witness trips (short-term missions trips). He has met Mickey Mouse on his Make-A-Wish trip. He has scored a goal in soccer. Earned a yellow belt in karate. Performed in a piano recital. He wrote a book and has hosted a book signing. Now he can add a few more experiences to the story vault. Peter’s loves story and often wants people to tell stories of memories of experiences. My aunt lives in the DC area so we took a Spring Break trip to visit. Peter’s book was accepted to be a part of the Library of Congress. During our trip we thought it would be cool for Peter to visit the Library of Congress. During our visit we not only got to see his book, but were also able to see one of the reading rooms, see a small portion of the massive card catalog at the Library of Congress. Peter was able to meet leaders from the National Library Services for the Blind (NLS). One of them being a young man who is blind and who works in their music department. Peter also had the honor of meeting The Librarian for the Library of Congress, Dr Hayden, in the ceremonial room. She signed his brailled copy of his library record and read his book with him. She also encouraged him to continuing writing and to find ways to make it a series of books. We also learned that Peter is likely the youngest author to have a book in the Library of Congress. Peter’s life has been and will continue to be full. Full of life, love, laughter, and stories. If and when Battens continues to take away his abilities we will be able to remind him of the stories of the amazing experiences that have filled his life and all of the people that love him and have supported him. To be honest when Peter first had the idea of writing a book we never imagined that it would lead to meeting the Librarian of Congress. We also never imagined that Peters book would be a source of inspiration, courage, and hope for others who are blind or disabled that we have been told that it is. Another lesson learned from my courageous 8 year old. Follow your dreams you never know where they may lead. The years that he will live may not be long but his days will be full of love and adventure.

Rare Disease Day 2024

Today is Rare Disease Day.  A day when we celebrate and call attention to those who have been diagnosed with a Rare Disease.  If I am honest two years ago I would have wondered why a day for that why not just a disease day.  Now almost two years into our journey with Battens Disease I understand the importance of it. We bring attention to the Rare Diseases because they are Rare and therefore not as widely known or understood which means that there are less people pushing for a treatment or cure or even that have a basic understanding of it.  It also means that there are less people to fund and do the research for a treatment or cure, less people who would need the treatment or cure and therefore less money available to fund the research. 

Supporting our stripes with our
Rare Disease Warrior 

 

The FDA does not make easy it for drugs to make it to the market and the guidelines for drug testing  for children is even more stringent.   Without thinking too hard I can tell of you numerous drug trials I have heard about in the last 2 years that showed promise or had proven results in treating one of the various forms of Battens Disease but the research or the trial was stopped or paused due to lack of funding or due to the pharmaceutical company changing direction.  One of those being the trial Peter was supposed to be starting at the end of March.  We do not know exactly what happened only that the trial has been delayed.  For how long we don’t know.  Will the trial still happen, we don’t know.  

 

The time it takes for a drug to go from an experimental drug to available at the  pharmacy can be 10 – 15 years.  And while we do not focus on this fact, the reality is we may not have 10-15 more years with Peter.   There are protocols that exist to speed up the process or to change some of the requirements but for reasons unknown to me those protocols and or changes are not being consider when it comes to treatments and cures to rare juvenile disease.  Time is not on our side.  I have no idea how quickly Peters cells are dying off but I know that it is happening and it heart breaking that I cannot do anything about it. 

 

Even more heart breaking and frustrating is that there is a drug already out there that has been proven to slow the progression in those with CLN3 .  It is a drug that is already approved for treatment of another disease. But it has not been approved for Battens Disease.  So for us to access it off label for Peter it would cost over $15,000 A MONTH! 

This is just a small taste of why Rare Disease is important.  Why advocacy is important.  It is important to  focus on hope and making the most of each moment, it is also important to bring to light where change needs to take place.   It is important to shed to light on why Rare Disease exists.  

 

Living on...blessed time.

 Living on borrowed blessed time. 

 

Recently we had Peter’s six month check up with his Batten Specialist team at Nationwide.   Peter enjoys this appointment because he gets to prove how fast and smart he is.  During the 3 hour appointment Peter is seen by our neurologist, a social worker, an occupational therapist, speech therapist, physical therapist, and a psychologist.  Everyone except for the social worker has a variety of tasks, tests, or measures that Peter has to do in order to document how he is doing and how much he is progressing.  While Peter is doing his tasks Joe and I are answering questions and talking with his team about how he is doing and what we are seeing.  We are very blessed that we are able to have all of these happen in one appointment instead of having to do them each individually.  Peter also loves this appointment because he gets a sushi date afterwards.  

 

We are happy to report that Peter remains stable in all the areas he was tested.  He does have some behavioral and sensory issues, which we discussed with the team.  He has an upcoming appointment with an eye doctor at Nationwide who has had other Batten’s patients.   He is not showing any signs of seizure activity and he did not show decline in his cognitive ability.  We are thankful for this. 

 

We had an IEP meeting with Peter’s school team this month.  The main topic was the transition from 3^rd to 4^thgrade which involves a change in buildings and staff.   Peter continues to do well in school, staying with his peers in everything except for reading and he is working towards being able to read braille.  He has an amazing team behind who help him to be able to learn, grow and succeed and we are very thankful for them.  

 

I will be honest I often feel like we are living on borrowed time before the next decline in Peter’s health.  While we were driving home from the appointment with Peter engaged in an audiobook Joe and I were talking about the appointment and the upcoming trial.  I expressed that I felt like we were on borrowed time and through the conversation had a shift in thinking.  Instead of it being borrowed time maybe a change in perspective was in order.  What if instead, I thought of it as blessed time.   We are blessed to have this time with Peter when he is able to mostly function as a normal 8 year old.  None of us are guaranteed tomorrow or good health.  But we don’t usually spend our days waiting for something to decline in our health even though it could.  Worry doesn’t fix anything, in fact it mostly makes things worse.  So I am trying hard to live on blessed time and focus on the joys of each day.   Our faith, our family and friends, our church, and community help to make that possible.  Thank you to each of you for your support, your prayers and for walking with us through this journey with Peter.  We are hopeful about the upcoming trial and trying to enjoy as much blessed time as a family as we can.  

 

Today whatever you are facing, consider how God may be able to provide a change in perspective to allow you to choose joy and have peace.  

Mountains and Molehills

 “Don’t make a mountain out of a molehill”  is a saying often repeated.   

Lately we have been struggling with Peter because he often latches on to something that to us seems like a small and insignificant thing.  However to him for whatever reason it is a big deal, usually one he cannot move past until it is correctly and fully resolved to his liking
.  When we are at home and/or not under time constraints and/or other responsibilities it is a bit easier to navigate.  Sometimes we are easily able to distract him from whatever he is hyper focused on.  Other times nothing will distract him.  Sometimes it a simple thing; fixing the seam of his sock, finding a stuffed animal, Lego, or rock that he suddenly remembered.  These easy wins are nice and allows us to continue with life or whatever we were trying to do.  Other times he struggles to describe what it is that he wants, needs or express what needs to happen for him to move on.  These times are frustrating, often involve tears.  In these moments we are thankful for God’s grace and the patience to walk through these things.  Thankfully at this point these are not daily occurrences and we work hard to try to keep them from happening where we can.  Peter’s sensory issues seem to be increasing as well.  Again thankfully at this point they are relatively easy to manage.   

 

Life continues to be full and busy.  We had a wonderful Christmas break.  We were able to celebrate Christmas with my parents and as a family before Christmas.  We had a wonderful Christmas eve service with our church family and then flew to Florida to be with Joe’s family.  We had a wonderful visit filled with crafts, games, Lego, stories, and adventures (some of Peter’s love languages).  We came back and jumped right back into life.  

 

Next week we have an IEP meeting for Peter. One of the main topics being his transition to 4^th grade and a new school building.  We are amazed at Peters continued learning.  He is working hard at tactile reading.  Even with all that is going on in his brain and his body he is still working so hard, learning and growing.  In two weeks he has his check up with his Batten’s team which happens every 6 months. 

 

This journey that we are on with Peter has helped us have perspective on the mountains and mole hills of life.  The mountain of his diagnosis sometimes seems insurmountable but then Peter gives us a hug and a snuggle or giggles with joy over something silly.  Or someone on Team Peter supports us in consistent or unexpected ways.  Watching Peter and Jacob grow together continues to be a joy.  The other day they snuggled together in their bean bag chair and I said a prayer that they would always share a special and significant bond. 

 

Speaking of Jacob he is growing with leaps and bounds.  He is generally an easygoing happy baby unless he is teething, tired or hungry.  He is incredibly curious and doesn’t miss much (except his nap occasionally J ).   Our family is blessed.  Thanks for reading, praying, loving and supporting us.  

 

We are hopeful for the trial that is coming this Spring.  Pray with us for lots of moments of joy and for the ability to keep things in perspective.   

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.