The Thrill of Victory, the Agony of DeFeet

Max was born with wonky feet that curled into one another.  At the time, we thought they would naturally correct themselves as the baby scrunch started to disappear.  And in some ways, they did.  I look at pictures of the first year, and they don’t look too bad.   

In fact, in his first few years, he was able to stand for short periods of time without wearing any braces on his feet. 

 However, I do remember him usually being fairly resistant to standing and weight bearing always trying to sit down when we were pushing him to stand.  Given his diagnosis, it was difficult to determine if his resistance was due to his hypotonia or if there was something else inherently wrong.  Regardless, we fell into a bit of a cycle – he hated to stand so we didn’t do as much weight bearing which made him weaker which perpetuated his hatred of standing and so forth.  Then, when he was almost 2 years old, he broke his femur.  The limited progress we had made was further set back, plus now it was shaded with fear that he would get hurt again. 

When he was two and half, he was fitted for his first set of SMOs to provide him with additional stability.  We quickly upgraded to AFOs that went up to his knees.  Although they seemed to help him with standing, he always seemed to be fighting us to both put them on and to wear them.  (Yes, he looks happy in the pictures - I rarely take pictures of my children angrily screaming at me)

During this time, he also started to lose his hearing (leading to the dreadful cochlear implant surgery)….and he constantly struggled with feeding issues (leading to us transition to a labor-intensive blended diet)….and he started to suffer from adrenal failure and you get the point – somewhere along the way, the braces were deprioritized.  We still would put them on and try and work on standing and taking steps, but honestly we were fighting battles on a LOT of fronts and his feet just didn’t get the attention they probably deserved.

Then, the seizures started and it was clear that the neurological issues were causing damage throughout his body, particularly in causing his feet to become even more pointed and stiff, so much so that his AFOs eventually no longer fit and the physical therapist advised that it was no longer safe for him to be weight bearing even with a sizable wedge to support his feet. 

During the summer of 2022, we went to the GFPD conference where we had a conversation with a physical therapist.  I was complaining about lifting him and she laid out what the next few years would look like if we weren’t able to use his feet for a load bearing transfer i.e. if we had to fully lift him every time we wanted to move him.  He is only getting bigger and soon our house would need to be a series of lifts and transfer systems.  It was clear – we needed to prioritize getting him back to weight-bearing on his feet. 

Our first step was to meet with his physiatrist at Lurie’s Childrens Hospital in Chicago who proposed a series of casting in which he would get fitted for a new cast every 2 weeks.  These casts would move and adjust his feet with each iteration and hopefully slowly get Max's feet back to a typical 90°/0° angle.  

Because the casts are permanent, Max would no longer be able to take baths or go swimming (his faves).  They also discussed surgery in which they would need to remove a portion of the bone in his foot – and then more casting.  Because his feet were so severely impacted, there was a good chance that the casts would not be as stable and could shift on his legs/feet.  If that were to happen, we would have to go to the emergency room immediately to have the casts sawed off.  

“Don’t worry” they told me, if the process doesn’t work, they will just “amputate his feet.”  ("and that made me want to diiiieeeee..." sung in the voice of Taylor Swift).  Needless to say, the whole process was extremely anxiety inducing.  I would just lay awake at night wondering how we would get through it and blaming myself for letting it come to this (would it be my fault if Max had to have his feet removed?!?)

While we waited for our turn (the waitlist for the casting program was intense), we went and saw his neurologist.  As I laid out my hesitations, she advised us to visit with Dr. Pavone at Marianjoy Rehabilitation Hospital for a 2^nd opinion. 

When we met with Dr. Pavone, she suggested that perhaps we could do removable casts.  Same process as at Lurie's, but we would be able to remove the casts for baths, swimming, and even if Max was just having a bad day.  Todd and I figured it was worth a try – if it didn’t work, we could always try the more intensive program at Lurie’s.  Plus, she had never mentioned amputating Max’s feet, which I greatly appreciated. 

We started the process in September and we are currently on our 6^th set of casts and I can’t believe the results.  We’ve gone from -45° to -20° on the right foot and -60° to -28° on the left foot, plus the curvature in the feet has also been partially corrected.  In fact, the results have been so incredible that Max is now once again able to stand in a stander with the assistance of the braces and a wedge for the first time in 3 years.  His teachers couldn’t believe how tall he’s gotten!  We plan to continue the process as long as we’re still seeing results. 

It feels truly like a Christmas miracle and we are so continuously grateful for the knowledge and kindness of the staff of Marianjoy, Dr. Pavone, and his physical therapist, Trinette . 

Personally, I’m equally grateful for my husband who has handled the majority of the process from the appointment scheduling, to making sure the braces are on correctly each and every day, to doing a few of the appointments solo due to my work commitments.  He has been an absolute champ and truly deserves all the credit! 

As a final fun note, the results have been so strong that Dr. Pavone is planning to feature Max in her upcoming publication about the process and program! 

Cheers to progress and 2nd opinions!  We hope 2024 brings each of you joy, happiness, and hope in the new year! 

Ok - so what now??

Max has always had a small bump on the bridge of his nose.  When he was a baby, it was a slightly more pronounced vein and as he has gotten older it has started to protrude similar to an aggravated mole.  A few weeks ago, Max rubbed it to a point where it bled slightly – no big deal.  Then, on Thursday while he was in his bed taking a nap, he accidentally rubbed it to a point where it must have burst open. 

Thankfully, our nanny randomly decided to go upstairs to check on him.  Unfortunately, she found him in a pool of his own blood.  Where the blood was coming from was obvious, because it wasn’t just leaking out – it was gushing upwards like a small fountain (seriously, what is up with the horror film blood scenarios lately?!).  Multiple attempts to stop the bleeding were unsuccessful to the point that Max got his first ambulance ride and then, only by applying a clotting agent, was the Emergency Room staff finally able to stop the bleeding. 

ER visit #1

Back at home, we honestly thought the worst was behind us as we put him to bed that evening.  But when Todd went to check on him at 1am that evening, he found him lying in a heart-stopping pool of blood having accidentally pulled off the bandages.  We knew the drill – called my Mom and headed straight to the ER.  Fortunately, this time we were able to get the bleeding to stop without significant medical intervention, but we still had no idea how to prevent it in the future. 

ER visit #2

Our solution was to protect the wound by applying multiple band aids and having Max sleep with socks on his hands (yeah, he was not thrilled), which worked – for a while – until Sunday night when Max managed to somehow rub it just right and cause it to burst while still wearing the band aids AND THE SOCKS!  If it wasn’t totally traumatizing, I would have been impressed. 

So Monday we went into full attack mode to avoid future bleeds.  The problem was we didn’t even have a plan of attack.  We didn’t know what this bleeding “mole” was even called, how to treat it or even who we should contact.  Luckily, we have a village.  Todd’s Dad called a friend who called a friend who called a friend so that we could be squeezed into a plastic surgeon (even if that plastic surgeon now specializes in tummy tucks and weight loss, it would at least give us some direction!).  In the meantime, our pediatrician worked to schedule us with Dermatology only to find out once a plastic surgeon had looked at it, that what we really needed was a pediatric plastic surgeon.

When I did finally talk to the scheduling assistant for pediatric plastic surgery, she commented “Max must be a very special boy.  I’ve gotten A LOT of calls about him today.”  Ya damn right, Linda. 

We met with the plastic surgeon this morning and surgery is scheduled for Tuesday, so we have a plan, but my anxiety is still sky high.  Max is basically on 24 hour surveillance with Todd and I taking turns sleeping beside him to make sure we have no more accidents.  Now I love Max, but he sucks as a bedfellow so we’re very tired and extremely cranky – including Max. 

A cross between Nelly and a Real Housewife post-nose job

I feel like we’ve crammed a year's worth of trauma into the past few weeks and I can’t help but worry about the financial ramifications of this tiny “mole” – one ambulance ride, 2 ER visits, one out-of-network plastic surgeon visit – but you know what they say – Mole money! Mole problems!  (get it? LOL! Why don’t I have friends?)

So what is it?  Initial diagnosis from Dr. Tummy Tuck (who was lovely and very helpful) is a pyogenic granuloma – a gathering of capillary blood vessels prone to profuse bleeding.  Because it is directly on a capillary, the blood will gush vs. flow. 

Why is it bleeding so much now?  Max has issues with blood clotting linked to PBD.  He does take Vitamin K for this issue and was given Factor 7 in the ER to help as well.  As to why it has started to bleed, who knows and jury is still out on whether it is related to the esophageal varices issue. 

Is he in pain?  No, I don’t think so.  For him, it’s just as if a scab came off, but we do have to hold him down for a substantial amount of time to stop the bleeding and that is unpleasant for all parties involved. 

What do you need from us?  Really nothing.  Just to vent.  The fact that a tiny skin bump could jeopardize Max’s health is so incredibly frustrating and sad.  Over the past months, it has truly felt like it is one thing after another with little breathing room.  Since it’s my birthday week, I’m also allowing myself a party – a pity party. Todd and I had planned to attend Rare Disease Week this week in DC and were really looking forward to experiencing that together, but we obviously felt uncomfortable leaving Max in his current condition, which is the right decision, but I can’t help feeling disappointed. 

On the positive side is that Max is no worse for the wear.  All the ER trips and lost hemoglobin have done nothing to break his spirit.  If anything, it may have made him just a little slap happy 

Thanks for reading - Corin

So how is Max?

I did this to myself.  I spent all of Saturday, December 28^th doing nothing.  Todd hung out with Max and Ellie hung out with a friend so that I could spend the full day putting together a 1,000 piece puzzle.  It was incredible.  Then, I did the unthinkable – I got cocky and posted about my relaxing day on Instagram. 

So really, it should have come as no surprise when Sunday evening Max threw up enough blood to make our kitchen look like a triple homicide.  In that moment, surrounded by that much blood, what can you do but call your Mom and just say “I need you to come over.”  I’m not sure Todd and I even talked about it, we just immediately started packing for a hospital stay. 

One quick side bar – while Todd and I packed and my Mom helped clean up Max, my Dad cleaned up the kitchen and I gotta say that if you do happen to commit a triple homicide and need someone to clean it up, Greg Garbe might just be your guy.  Five stars.  Would recommend. 

When we got to the hospital, just as the nurses started to question exactly how much blood he had thrown up (I said a lot – I meant A LOT), Max promptly threw up another large amount of blood helping to jump start the level of care we received.  Bless his continued sense of timing. 

When we initially talked to the doctors, we assumed that the bleeding was due to an inflammation of the ulcer Max had suffered from a few months ago.  Despite all the blood, Max seemed to have bounced back fairly quickly.  He was a bit pale and seemed to have some lingering stomach pains, but was otherwise acting normally so we didn’t overly worry.  When we had been hospitalized for his prior ulcer, we had decided not to do an endoscopy since the medicine seemed to have alleviated any symptoms, but we knew with this additional episode it would absolutely be necessary.  What we weren’t expecting were the results.

The endoscopy showed that Max had most likely suffered from a ruptured esophageal varices.  Esophageal varices are enlarged veins due to obstructed blood flow to the liver and are usually associated with advanced liver disease.  We had spent so much time in 2019 trying to get his seizures under control, we totally forgot that he also had the liver of an 80 year old barkeeper.

So what do we do now?  When the varices ruptured, it alleviated the pressure that had built up, so Max feels great right now, but there’s really no real solution to stop the same thing from happening again.  We are meeting with his gastroenterologist to explore a possible beta blocker, which may help with bleeding, or exploring rubber band ligation to essentially cut off the varices.  However, neither of these options are 100% effective and this diagnosis has the feel of a ticking time bomb.  

So how is Max? He’s happy, playful, and as ornery as ever.  How are we?  Overall, we’re scared and this super sucks, but I suppose it’s just one more rock on the shit* mountain of PBD.  

 

So here is my prayer:

Dear God, thank you for each new day where you protect us and love us.

Thank you for providing us the kindness and support we need to persist

Please give us the continued strength to find the joy and happiness in all situations

And to fight for Max and all those that need a voice.  Amen 

*Here is an article correlating swearing with intelligence that I stand by: 

Swearing is a Sign of More Intelligence, Not Less Say Scientists 

Also, Max came extremely close to receiving a blood transfusion, so just a gentle reminder to give blood if you can.  Preferably, O positive if ya got it :) 

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

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 3^rd 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.

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....

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!