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! 

#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

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….

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!

Frustration and Freak Outs

When Max was born, he failed his hearing screen.  At the time, I was upset, but I did some quick research, which said 1 in 10 kiddos fails this screen.  We went back to an audiologist about a month later, and he eventually passed the screen.  However, over the next few months I still questioned his hearing.  He wouldn’t necessarily look at you when you talked to him, he didn’t seem to jump at loud noises, and he continued to not make consonant sounds.  I knew what the therapists were thinking, but weren’t saying – autism.  But he didn’t seem to exhibit many of the other traits of autistic children.  He loved to be held and to be talk to and was easily settled down.  Then came the preliminary diagnosis of PBD and, although we were not told the full details of the disorder, we were told to get his hearing and vision checked immediately.  

So we went back to the audiologists, where we explained the preliminary diagnosis and they did another hearing test.  It was determined that there was fluid in Max’s ears making it difficult to perform an accurate hearing test.  We were told that he would need tubes and that they would do a hearing test after the surgery.  Given the predominance of the use of the auditory brainstem response (ABR), which is done while a child is sleeping, I assumed they would do this test while Max was already sedated for the surgery.  We were both surprised when the doctor informed us after the surgery, that he had planned to do hearing test during the follow up visit.   So we headed back to the audiologists, where they did a very brief and fairly inconclusive hearing test, which basically consisted of Max sitting on my lap while they yelled at each side of his head.  I once again explained to the same doctor that hearing loss is often associated with Max’s disorder and that I continued to be concerned, but he assured me that he had thought Max's hearing was fine because he had passed his newborn screen, so off we went. 

For Max’s 18 month checkup, the pediatrician asked if we still had any concerns with his hearing – I think I practically yelled “YES”.  She then referred us to the ECHO clinic in Champaign.  So we got an appointment and headed over to the clinic, where they confirmed what I had suspected – MODERATE TO SEVERE HEARING LOSS.  However, they still needed to determine what Max could hear, so we made another appointment to come back to Champaign to do an ABR.  As I said before, this exam requires that Max be sleeping so yesterday we showed up at the clinic with a VERY tired baby, but of course once they put the nodes on his head and face, there was NO WAY this kiddo was sleeping.  In order to get an accurate read, Max would need to be asleep for approximately an hour.  Therefore, we would need to make another appointment to determine if the doctor is comfortable sedating him.  Then, we would need to make ANOTHER appointment in which they would sedate him and finally complete the ABR. 

This was when I broke down.  I lost it – how many more appointments could we handle??  How many more times can one child be sedated (this will be #5 for Max)??  At this point, I’ve had concerns about his hearing for a whole year and felt like we were getting nowhere (at least that’s what I muttered through my tears)!!  Turns out that when you freak out, people get pretty uncomfortable.  And when people get uncomfortable, they will do whatever they can to not have to keep dealing with you. 

After the freak out, they immediately started fitting him for hearing aids.  I mean – immediately – she went and got the molding and got to work.  She agreed to talk to the doctor about Max’s case and now the doctor has agreed to do the ABR, without an initial consultation appointment.  We are getting somewhere.  Todd has assured me that I was not “throwing a fit” – I was “advocating for my child” – but I’m going to be honest, “advocating” looks A LOT like “throwing a fit.”

When I think back on the past year and half of Max’s life, it’s not sadness that comes to mind.  Or anxiety.  Although there has been plenty of both.  It’s frustration.  Frustration with the doctors not listening to my mother’s intuition telling me something was really wrong with Max.  Frustration at my own helplessness as we struggled to figure out what was wrong with Max only to find out how rare it is and how limited the treatments are.  And of course, frustration with myself for not knowing what to do in so many of these difficult situations. 

But there has also been so much that has come from this frustration.   I’ve met some truly phenomenal people who HAVE  been willing to listen to me and help me and push me to help myself.  I’ve learned how to better advocate for my child, even if maybe it does mean tears and raised voices.  Todd’s aunt told me when Max was first admitted into the hospital when he was 2 months old that I am his advocate and to never be afraid to fight for him.  Obviously, sometimes I’ve done that much better than others, but I can truly say that I am so much stronger than I was 2 years ago.     

The good, the bad, and the ugly

This Friday, I had the pleasure of meeting with a Mom whose son has also been diagnosed with PBD.  With a diagnosis this rare, it truly is a blessing to find someone who is slightly further on this journey than we are.  She will hopefully be someone who helps me navigate this complicated world of specialists, treatments, and therapies.  More importantly, for 2 and half hours, she served as my sounding board, allowing me to say so many things that had been pent up in my mind, but which I was too afraid to say.  I was afraid to say them for so many reasons – fear of judgment, fear of misunderstanding, and fear of it making it real….

It was only when I found someone who had traveled the same road that I’m traveling could I let my thoughts be known, because trust me, they are unpleasant.

They’re devastating thoughts like “maybe my husband and I weren’t meant to be together.”  Before Max, I had always thought fate had brought Todd and I together and no matter what, we were 2 puzzle pieces that just naturally fit together.  Nothing can make you question fate like knowing that when you come together, 25% of the time you make sick babies.  These are sad, dark thoughts – and these are thoughts that she did not judge me for. 

Now, please don’t take this as me not loving Todd, because he is truly my everything, but I’m telling you to show you how situations like this can truly torture you from the inside out. 

We also talked about how there are good days, there are bad days, and then there are the ugly days. 

On the good days, I can rationally see God’s plan and realize that he purposely sent Max to our strong and loving family in order to give Max the best life possible.  But then there are the bad days – these are the days where you question why a disorder like this would exist at all.  How would it ever be fair to strip away a normal life from a helpless child?  Then there are the ugly days, which are filled with pity, jealousy, and anger - pity for myself and having to watch my child suffer and the general unfairness of it all – jealousy of all those mothers with little boys who get to live normal lives and anger at their lack of understanding and perspective.  These are the days where I hate myself for not being stronger.  

Do you know how amazing it is to talk someone through these thoughts and to know there is no judgment – only understanding?  She has been there and truly understands the pain.  Hopefully, I provided her with a fraction of the comfort she provided me.  

Also, I wanted to mention how much I truly appreciated everyone's notes and comments following Max's diagnosis.  I read each and every one - multiple times - because it never gets old hearing people tell you how cute your kid is, no matter what the situation, right? 

Speaking of which, check out this stud:    

  

The worst thing a Dr. can say.....

“Do I expect your child to live 2 decades – No, probably not.”  Dr. Schneider said it so matter of fact that it took a minute to settle in.  It took one minute before I could feel the cry coming – not a cry that comes from the throat, but one that comes from the gut.  A cry so awful, that the minute it escaped my mouth, I felt embarrassed by how awful it sounded. 

I’m not sure how it’s supposed to feel when you’re told your son won’t make it to adulthood, but for me, it felt like I had been kicked in the kidneys, my heart was exploding, and I had taken 5 shots of tequila all at the same time.  Even now, two days later, I feel like I’m recovering from a KO punch.  And I’m tired. 

It has already been a long road and it’s not the first time I’ve made that horrible crying sound.  I made it when Max was diagnosed with Failure to Thrive and admitted to the hospital.  I made it when they told me he would have to have a g-tube to survive.  I made it at the initial genetic diagnosis of a duplication of the 16p11.2 chromosome (a diagnosis that has since been labeled as benign).  And I made it at the diagnosis of his peroxisomal biogenesis disorder (PBD).  Each time, I rationalized and compartmentalized until I was able to function under each of these circumstances.  But this one?  How do you rationalize and compartmentalize this one?  The only comfort I can find is that one of my main worries used to be that I would pass away and there would be no one to look after Max.  In all likelihood, that will not happen.  But how could I live in a world without my sweet Max?

The first question people seem to ask about is usually in regards to treatments.  Although there is research being done, there are currently no available treatments.  There are only a few hundred children with this disease in the whole United States and research is limited.  There is a Global Foundation for Peroxisomal Disorders, which we plan to join and hopefully gather information from. 

I’ve read enough blogs to know I’m supposed to put together some beautifully profound and inspirational thoughts, but that sounds exhausting.  Instead, I will say – this sucks (hence the perSuckisomal blog title)– because it totally does and nothing anyone says or does is really going to make it much better, but there are definitely things that everyone can do to make it a little easier:

---> Have understanding and empathy.  All of this is very hard for us to talk about and answering questions about his diagnosis is very difficult, if not impossible.  The hardest question by far is always “How’s Max?”

---> Treat us like you always would.  We want normalcy so bad.  Please don’t send us notes saying how sorry you are to hear about this.  We understand the sentiment, but it feels a lot like pity, and that doesn’t feel great.  Instead, I like the following sentiments:
1. Max is doing so well (because he really is - he's such a happy little boy)

2. You guys are wonderful parents and we will help you any way we can

3. Todd, your wife is smoking hot (sometimes it’s just nice to hear, ok…)  

---> Give support.  Your thoughts, your prayers, your bad jokes - All are always welcome. 

Thank you for reading. 

Here is a FAQ if you are curious about the disorder:  http://www.simd.org/links/PBD-FAQ-updated-june-2012.pdf

Also, here is a video of the cutest little dude around: