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.