Friday, February 10, 2017

Plea It Up!


Last year’s Tee It Up! For The GFPD event was an amazing success! 
To quote the internet:  it “was lit (fire emoji)” – it “gave me life” – it served as a “savage clapback” for rare diseases everywhere!   
The thought of trying to replicate that success level has been giving me massive anxiety over the past month. 
To be fair, the thought of the new Gilmore Girls episodes not living up to old episodes has given me so much anxiety that I have not watched the new episodes yet – so elevated anxiety is not, in itself, reason to worry.  However, this is so much more.    
In my line of work as an actuary, we are constantly calculating the return on various investments and personally I would love to have those statistics on the money raised from Tee It Up!  Unfortunately, putting a value on life changing research is extremely difficult.  But let me assure you, each dollar donated has been allocated to projects that I truly believe will make a difference, not just for Max, but all individuals suffering from Peroxisomal-based disorders.
Below is just a sample of the projects the GFPD is helping to sponsor:
  • Retinal Gene Therapy at McGill University –  Scientists have started treating mice carrying PEX1 genetic mutations, the same as those seen in PBD children, with the normal PEX1 gene, which will hopefully help correct vision issues within these mice.  If successful, this would provide a viable treatment for our children and hopefully prevent future vision loss. 
  • New Mouse Model with CNS defect – Similar to the retinal gene therapy, this treatment would target issues of the central nervous system in children with PBD, however first we need to build the mouse!  This is anticipated to lead to opportunities like bone marrow transplants and other targeted gene therapies. 
  • Mouse Study with diosmetin – Oh god, more mice.  Prior to Max being diagnosed, there was a study involving a compound known as betaine, which had mixed results.  Scientists believe that a combination of betaine and diosmetin could affect peroxisome function and prove to be a treatment that curtails the disease.
  • Drug Screen with the NCATS section of the National Institute of Health – Thousands of compounds previously approved by the FDA are being tested for their effect on peroxisome functions.  If a given compound proves successful, this would allow us to fast track through the expensive and time consuming FDA drug approval process. 
My anxiety stems from the fact that these projects are not fully funded.  Without continuous donations, these projects will have to be postponed.  If we don’t raise enough money, which one of these would you want to give up?  How do you put a price on possibly keeping a child, who is already deaf, from going blind?  Or possibly eliminating a child’s awful seizure activity?  And let’s be honest, given Max’s life limiting condition, the thought of postponing any possible breakthrough makes my stomach turn.  Especially, having listened to these studies be discussed by the leading scientists, it feels as if these developments are so, so close if just given the proper funding. 
So please, I know there are so many worthy causes out there and we feel so blessed with the amount of support we have received so far, but I sincerely hope you will see the possible return on your investment and choose to Tee It Up! For The GFPD on May 18th and 19th.  
Also, I should probably mention that not only are you keeping me from having a nervous breakdown, but the reception and golf outing are also a ton of fun!  What a combo, right?    
#MaxtotheMax

For more information or to register, sponsor, or volunteer for the event, please go to www.teeitup4gfpd.com






Tuesday, July 12, 2016

I've never met a metaphor I didn't like....



As a special needs parent, I often find myself on “Can Island.”  Can Island is an amazing little island where you are able to focus just on what your child can do – his sweet laugh, his cute deliberate crawl, his ability to make any box into a hat.
Unfortunately, as Max approaches his 3rd birthday, I’ve been having to make more and more trips to “Can’t Land.”  Can’t Land is where your positivity and dreams go to die.  Picture Los Angeles with more standardized evaluations.

By far, the hardest thing for me about being a special needs parent is those mental comparisons to “normal.”  When I’m on Can Island, the joy of Max is so apparent.  But lately, I feel as if I’m one trip to the park or one birthday party from falling into the despair of “Can’t Land” where it all just feels so hopeless.

I’ve decided the only way that I can stay positive is to keep fighting for Max on all fronts.  Not just to make sure he gets the services and care he deserves, but more than that.  If I believe I can fight PBD, each day feels a little less discouraging.

Over the past few months, we have continued to give it our best shot.  Our Tee It Up! golf event was an amazing success raising close to $100,000 for research towards Peroxisomal Biogenesis Disorder (PBD).  Two weeks after our event, we took off to Baltimore for another Global Foundation for Peroxisomal Disorders (GFPD) fundraising event (the Ilan-A-Thon 5K).  While in Baltimore, I was able to tour the National Institute of Health (NIH) which has partnered with the GFPD to conduct a high-throughput drug screening to see if we can uncover any potential therapies for PBD. 


Scientific side note for the nerds out there: Essentially, the National Center for Advancing Translational Sciences (NCATS), a subsection of the NIH, tests various compounds already approved by the FDA to determine if any of them have a positive effect on a cell's peroxisomal function.


As newly appointed treasurer for the GFPD, I was also invited to attend the Annual GFPD Scientific Advisory Meeting, where PBD researchers from across the U.S and Canada gathered to discuss recent advancements and possible upcoming projects including the use of metabolomics technology, natural history studies, and gene therapy.  It was amazing to see exactly where the Tee It Up! dollars raised are going – totally fulfilling, exhilarating and also totally terrifying.  It was like one of those dreams where you show up to class and there’s a test, but you haven’t gone to class all semester and they use the word “metabolomics” a lot.  (Metabolomics: the scientific study of metabolites present within an organism, cell or tissue).


Now, after things are all over, I realize I was riding on a bit of a “let’s cure PBD” high.  As the dust settles, the reality has started to set in a bit.  Max is doing great health wise, but the milestones we all want so badly, continue to evade us.  And, although we are so much closer than we were even a year ago, we are still a few years and a few million dollars away from making gene therapy a possibility for PBD kids.  So I take it day by day, but here is the favor(s) that I ask of you –
Stay, Pray, and Play. 


Stay:  We are so grateful for the support we have received so far, but this is a long journey.  I truly believe that the research we are sponsoring will not just benefit Max or PBD kids, but society in general.  There is so much left to learn about peroxisomes that when you donate to the GFPD, you are actually helping guide leading edge medical research that is likely to have many different benefits for many different diseases and disorders.  We hope you will join us in championing this amazing work.  #yearoftheperoxisome


Pray:  Every single one of your prayers is appreciated.  I know the first instinct is to pray for a cure, but that is so very far away.  What we really need is strength and guidance – 2 things that I believe only God can give us.    


Play:  I know there are many people that read our story that we’ve never met or who have never met Max.  If you see us out, please introduce yourself and take a moment to meet Max.  I guarantee you will fall in love and instantly understand why we fight for Max even on our most frustrating days. 

Thanks again for your continued support!

Man enough to handle a pink shopping cart.  
They see me rollin....
Laughing with Daddy on the 4th of July 







Last but not least, Max LOVES head rubs.
They're like Pringles - once you start, you can't stop.



Tuesday, February 2, 2016

Blurred Lines



It’s been almost a year since Max has been diagnosed, and with each day I become more and more aware of the fact that I hate being a PBD Mom. There - i said it.

I hate when the first thing that someone says is “So how IS Max” and I have to fake enthusiasm because it’s 9am on a Tuesday and crying will ruin my eye makeup.

I hate the deep jealousy I feel when I see other people’s 1 year olds mastering milestones that Max struggles with every day.  

I hate that everyone  immediately tells me how tired my son looks.  1.  you’d look tired too if your body was fighting half as hard as his is. 2.  That’s just kind of how he looks and we think he’s adorable, ok?

I hate that the financial security that we worked so hard to establish and secure is now in jeopardy

I hate the doctors appointments and the blood draws and the massive amount of medical equipment we now own.

And of course, I hate that I’m going to lose him.  Something that, despite my best efforts, I think about every single day.  

But with each passing day, I also become more and more aware of the fact that I love being Max’s mom.  The kid is pure joy.  Never upset.  Never angry.  Never whiny.  Just happy and loving.  He has taught me to take each day at a time and to never give up.  He has given me strength and a purpose that I didn’t know I needed.  

But honestly, I still struggle to separate those 2 entities - PBD and Max, because every day with Max is dictated by PBD.  When you’re in the ER for the second time in a weekend?  Or when Max rips out his hearing aid for what feels like the 100th time that day? Or when Max is so constipated that he’s screaming from pain, how do you keep your thoughts away from frustration with Max. Because all that frustration isn’t with Max, it’s with PBD, but the line sometimes feels so blurred.  

The more blurred the line becomes, the more guilt I feel about my constant frustration and sadness. It is only recently that I’ve been able to make peace with the fact that it really is okay to hate being a PBD mom and that does not mean i hate my son.  I hate being a PBD mom because I love him so much.


And how could you not love him....


Sunday, November 1, 2015

Fractures, fundraising and frustrations....

Over the past few months, I have not been up to blogging and honestly I debated writing this post as I have a feeling it might not make me particularly likable.  However, I realized I’m not going for Sainthood here (that ship sailed in college) and that if I’m going to document our journey, I have to be honest.  These last 8 weeks, I have been filled with exhausting and overwhelming anger.

When Max broke his leg 8 weeks ago, something in me snapped (pun intended).   I felt the wind knocked out of me.  Sitting in the ER as the nurses came in and asked us over and over again how Max broke his leg, I could feel the anger growing.  Knowing that at 2 years old, PBD had already taken such a toll on his little body that the hardest bone in the body to break had broken because he sat down a little wrong - and that the nurses didn’t believe me.  Knowing that all the crawling and exploring that he was finally getting a chance to do would come to a screeching halt only furthered the anger.  Also, he stopped sleeping because of the cast which was not great for the psych either.  

Then, came the fundraising video.  In the video, I state that Todd and I do not like asking for money. This is an understatement - I hate it.  But Todd and I feel passionately about the Global Foundation for Peroxisomal Disorders (GFPD) and what it is truly capable of.  It is truly the shining light of this disease.  The problem when you feel THAT passionately about something and you put yourself out there, when people don’t respond, you get personally offended.  How could that person NOT share the video?  How could they NOT donate to the GFPD??  The rationality of the situation goes right out the window (lack of sleep, once again does not help).

And then someone said the one thing that you should never say to a parent of a terminally ill child: “I believe that any disease can be cured if you believe in God enough.”  Now, I believe in the power of prayer and I realize this statement is made based on hope and positivity, but from my angered self, all I felt was blame.  If Max does pass away, is it because I didn’t believe in God enough?  Do people really think bad things only happen to people who just don’t devote themselves to god?  Perhaps, Max is sick because I’m being punished for my past sins?  It took me two years of working through my own self blame to confidently say I don’t believe this is the case and if you believe this, I beg you to change your mind.  After all, how could it be true when I look around at a GFPD conference and clearly see parents that believe in God and all that he is capable of and their child still passed away.  

Altogether, the broken bone, the frustration of fundraising, and the feeling of being judged was too much.  The anger took over and I became miserable.  I could feel myself laughing less and judging others more.  Dwelling on those that chose to ignore our initiative instead of focusing on the amazing love being sent our way.  

Then, it finally arrived - the total donations we received.  Up until this point, we had no idea who had donated or if anyone had donated at all.  In the words of one of my favorite Drs., my heart grew 3 times that day.  I was floored to learn we had raised almost $20,000!!!  Just thinking about all the possibilities and hope this money brings, I can feel the tears filling my eyes (You: You’re a bit emotionally unstable, huh?  Me: Duh).  Even more amazing is the list of people that gave, which included over 150 people, some which we didn’t even recognize.  I am so thankful for each and every one of these donations and can’t emphasize enough all the wonderful things that the GFPD can do with these funds:
  1. First and foremost, it provides medical grants to scientists and researchers specifically focused on PBD (who we have met and are just as kind and brilliant and nerdy as you would want them to be)
  2. Provide shipping costs for exchanging medical equipment with other PBD families
  3. Provide sponsorship for families hoping to attend the GFPD conference
  4. Additionally, the GFPD has no staffed employees, so there is 0% overhead.  

So basically, you are directly helping families affected by PBD and giving them the hope and support they so badly need.  If you haven’t given and would still like to make a difference in the lives of these kids and their families, please visit thegfpd.org and click on “support.”  

But back to being thankful - Every share of the video, every donation, every kind word that has been said - we are really so so thankful.  The generosity and kindness that has been shared with our family is more than we deserve (ok - more than I deserve - Max and Todd are pretty awesome).  From the bottom of my slightly larger heart, thank you.  


Post-broken leg - still breaks my heart

Max hanging out in his favorite place

Part of our PBD family

Cast off, blast off! 
Happy 2nd Birthday Max! 

Sunday, October 4, 2015

#PauseforMax

Today, we celebrate the 5th anniversary of the formation of the GFPD, a truly wonderful organization that funds medical research and provides support for families affected by PBD.  When we first received Max’s diagnosis, we felt lost.  The GFPD has provided us (and so many other families) with incredible love, support, and hope on this journey.  

The GFPD encourages everyone to #PauseforPBD today and spend some time praying for those currently battling this disease and remembering those that have already passed.

In anticipation of Max’s 2nd Birthday on October 17th, Todd and I have put together the following video to spread awareness of PBD and the wonderful mission of the GFPD.  We ask that you please watch and “share” Max’s story. Hopefully, it inspires you and others to give a donation to this amazing organization.



To donate to the GFPD, follow this link: Donate
Under purpose, please put “Max’s 2nd Birthday”

Thank you so much for your continued support and love.
Todd, Corin, Ellie and Max Chapman

Monday, August 17, 2015

Milestone Monday

This blog is kind of depressing, as these type of blogs tend to be, but here’s the thing - my life is not depressing.  Yes, PBD is so, so hard and I definitely get depressed (shout out to Zoloft!), but there are honestly still these amazing moments with Max that I wouldn’t change for the world.  Maybe it’s the white wine talking, but this kid has taught me to truly appreciate life and all that each of us is capable of.  

As you may of guessed, we had a good day today in the Chapman household.  Like wine drinking on a Monday good.  We visited the ECHO clinic, where Max was able to show the audiologist what a dramatic improvement the hearing aids have had on his vocalization and interactions.  

Then, tonight - THIS:  


Yes, I know he is almost 2, but the pride I feel for this kid and how hard he has worked is like nothing I’ve ever felt before.  So tomorrow, I’ll wake up and we’ll go back to fighting and cursing this terrible disorder, but tonight we celebrate….

Monday, July 27, 2015

GDFR at the GFPD conference

This past week, Todd, Max, and I attended the Global Foundation for Peroxisomal Disorders (GFPD) Family and Scientific Conference.  The conference is meant to bring together families from around the world that have children diagnosed with PBD. 

All the best PBD doctors were there and available for you to talk with.  You could have these great non-rushed conversations about different issues – hearing aids or cochlear implants, are vitamin supplements necessary, etc. and know you were getting advice from doctors that really understood the needs of PBD kids. 
The conference was a whirlwind of emotion that I feel like I’m still recovering from.   
First and foremost, there was the joy.  The joy that there are other families out there like ours.  Good, normal, loving families that are having to deal with this terrible disease.  Families that didn’t do anything “wrong” other than having a case of bad luck.  I mean, I knew there were PBD families like us out there, but to be able to meet these people and look each other in the eye and think – you GET IT.  It truly was an instant bond. 
The environment of inclusion there was also amazing.  Never did I have to “explain” Max.  Everyone knew Max had feeding and vision and hearing issues, because they dealt with the exact same thing every day!   That IS their normal.  You were given the opportunity to leave your child in the child care room, which was manned by the most loving, amazing women – most who had substantial experience with special needs kids.  I’m not sure that Max has ever gotten as much loving as in that room.  I basically wanted to bring everyone in there home with me.     
There was also hope.  I saw these amazingly, loving kids doing so much – talking and walking and giving amazing hugs and I found hope that Max would be able to do these things. Of all the emotions I’ve felt over the past few months, the hardest and most destructive one has been hopelessness.  There is no reason to feel hopeless. 
However, there were also some blows that I’m still recovering from. 
There was frustration. When Dr. Braverman, a leading researcher of PBD, explained that being able to test a combination of Betaine and an additional drug, which is thought to have the ability to improve peroxisomal production in these children, is still 5 years and $1 million away, you could actually feel the air being sucked out of the room.     
There was sadness.  I knew that PBD kids struggle with hearing and vision loss, but I didn’t realize what a foregone conclusion vision and hearing loss would be.  Max will be blind and deaf, it’s just a matter of time.  That’s hard. 
But the worst is that I learned that Max will pass.  I know, I know – I said it was a terminal disease and I knew that it was.  But there’s this part of my brain that said – well certain kids might pass away, but not Max.  I mean look at him – look how healthy and happy he is.  Unfortunately, I learned that there were a lot of parents that had PBD children that were healthy, until they weren’t.  It’s degenerative and this journey is only going to get harder.  
Parents who have lost their children are invited to attend the conference as well.  This may seem odd, but, as I said, there is a special bond among PBD families.  These parents are there for many of the same reasons we’re there – for support from others who understand.  During the sessions about the latest treatments, these families meet with each other in the grief counseling room– affectionately known as the “scary room”.  I don’t want to go to the scary room. 
On the last day, we gathered outside and each child’s name, both living and deceased, was read and reflected upon.  Then, we released balloons into the air.  It was very moving and then I went back to the hotel room and wept.  I had held it all in for the previous days, not wanting to be the crazy new girl that can’t keep it together, and when I finally hit the release button the tears came like a fire hose. And afterwards, I felt better. And then I took my puffy eyes downstairs and drank beer with my new PBD Mom friends and even though there was sadness and frustration and PBD itself is just awful, the conference was actually kind of perfect. 


A few pictures from our days in Omaha:
  Two of the littlest guys - Max and Jack

 The craziness of the childcare room

The ball pit! 

Max's amazing caregivers!

 The handprints of all the PBD families 




Our PBD family!