I know this is a long post, but if you’ve got a few minutes, I hope you’ll read and continue your support of my family and others like ours. The more you know!
The Orphan Drug Act (ODA) passed in the US in 1983. Its purpose was to encourage drug companies to research and develop therapies for those with rare diseases. Why is it called “orphan”? Because, rare disease therapies generally lack sponsors to develop them. The market is small, research is expensive, and there is very little return on investment. There are over 30 million Americans suffering from over 7,000 rare conditions. Only 5% of those diseases have an approved treatment. Which means, the majority of those suffering have no treatment options at all. Taking your loved one home and being told to “make the best of the time they have left”, is a very real reality for many. Being granted an orphan drug designation by the #FDA, manufacturers and sponsors receive a 50% tax credit on qualified clinical testing, there are also several grants available. Which in turn helps recover development costs. According to the FDA, in the decade before the ODA was passed, only 10 treatments had been developed for rare diseases. That’s not a typo, TEN. This incentive, since inception, has helped bring nearly 500 new medications to patients. It has a proven track record of success.
Today, the House passed the Tax Cuts and Jobs Act. The Senate will vote after Thanksgiving. Included in this bill is the proposal to repeal or weaken the Orphan Drug Tax Credit. This is one of the only credits that is proven to save lives. I’m asking that you consider joining the #raredisease community in fighting to ensure it will not be weakened or repealed as part of the tax reform.
How can you help? Follow the link below. At the bottom of the form you will enter your address and zip code. A letter to your senators and representative will be filled out for you. The letter asks your representatives to oppose repeal or weakening of the Orphan Drug Tax Credit. All you need to do is enter your name, home address, email address and hit submit. It’s really that easy. I hope you’ll consider doing it.
As always, thank you so much for the support. xoxo
There are days when I could cry if one more person says “Oh he looks great, he must be doing well!”. Of course, they’re all well-meaning. I know. It’s just a little disheartening when you’re in a struggle and everyone tries to congratulate you on a success that isn’t real.
When your child is fighting invisible conditions, it’s hard for people to look at a beautiful toddler and see that their life is in jeopardy, every moment of the day. There are days when I just smile and nod because a long explanation is going to take more time than we’ve both got. Of course, I am grateful that someone cares enough to stop and ask how he’s doing. It’s just the misconception that if someone looks okay on the outside, that they must be okay on the inside. It isn’t true. What’s worse, is when you’re the mom, and you look at your seemingly healthy child and have to find the one tiny thing that might be out of place. That one thing to indicate that he isn’t well. The detail so minute that most would glance over. Even my husband would admit there are times when he thinks my son is okay and I insist that I see that one subtle sign. Sure enough, we end up scoring more frequent flyer miles at the children’s hospital.
My rare superhero is my second child. My first was such a breeze, truly. I remember lying next to her and just trying to remember every beautiful detail of her face, soaking in her laugh, her smell, and those sweet baby kisses. Motherhood with my son started the same way, until one day, things were just different. Now when I look at my son, I try to enjoy all of those same things, but when I look at him, my eyes are like an x-ray machine, looking for any sign that he’s in distress. His rare conditions have robbed me of that blissfulness.
When my gut first told me something was wrong, we rushed him to the emergency room. I tried to explain to the physician that things just didn’t seem right, something was off. His personality was gone. He didn’t blink. He was staring out in “space”. The doctor took one look at him and without running a single test, he sent us home. He said he “looks fine”. He was “perfectly healthy” and suggested we go home and “enjoy” him. He blamed new mom paranoia. I’ll admit, for a brief moment, I wondered if he was right. We went home. My mind racing in so many directions.
Was I seeing something that wasn’t there?
Was I trying to find something wrong?
Why do I see things that no one else sees?
Those thoughts were short lived. As most moms (and dads) know, when you feel something in your gut, there’s no stopping your mission. A few days after the first ER turned us away, I took him to a second one. Within 30 minutes of arriving, we all knew something was dangerously wrong. My son was near death due to hypoglycemia, and he was still functioning, like “normal”. He just doesn’t show typical signs. He is “hypoglycemic unaware”. Low glucose in nearly undetectable by looking at him. To top it off, his disease is the number one cause of irreversible brain damage in infants. He has Congenital Hyperinsulinism. That’s some pressure.
He was also born with two rare congenital birth defects in his larynx masked by silent aspiration. Silent aspiration is when a person aspirates on liquids or solids and shows ZERO outward signs. There is no coughing. No eyes watering. Nothing to indicate that the person has inhaled liquid right down into their lungs. I didn’t even know that was a “thing”. After fielding through several diagnoses and suffering from permanent lung damage, we are hopefully, finally, on the road to recovery.
Having a child with invisible conditions has made me question my own sanity. I wonder how people view me. Do they think I over exaggerate? Do they think I’m paranoid? If they are caring for him, will they miss those tiny, but important, signs? Will they brush them off? Will they ever understand? Who knows.
To try to give you a little perspective – If you can, imagine your dream home. You know, that house that you’ve day dreamed about. The one you’ll buy with your lottery winnings. It’s beautiful and everything you ever wanted. Incredible curb appeal. The picket fence you’ve always wanted. The wrap around porch. Enough room for the tallest Christmas trees. Spiral staircases. Every add-on you could imagine. Inside you will find everything that means something to you. Your whole heart is inside that house. There’s just one catch, it’s built on a sinkhole. It could all crumble at any moment. That’s what an invisible disease often feels like, for me anyway.
Or, maybe a better analogy would be to imagine that you have a beautiful, intelligent, loving, little boy. He completes your family. He makes your life whole. He has a wonderful life ahead of him. A life that he has had to fight, every single day to have. Inside of him are diseases and conditions that most of the world has never heard of, and you have to be on guard every moment of the day, to get him to the next. You have to see what most can’t. Complacency is never an option.
Most moms in my shoes will tell you that we’re grateful for what we have, well, because WE ARE. I love my children. As perfectly imperfect as we all are, this is the journey we’ve been given. We have a huge support system and my heart is in debt to the kindness we’ve been shown. It’s just a hard road especially when everything looks okay on the outside. What you see, is often deceiving. For my family, rare is our reality and it looks really pretty from the outside. On the inside? Well… that depends on the day.
Jackson didn’t pass the safety fast. He became unstable pretty quick. I cried quite a bit. So desperate for relief. The good thing is, he isn’t worse. We are still managing the disease as we always have. Hyperinsulinism continues to be our reality.
Due to some issues on the scheduling side, we had a late start. We officially began the study on Saturday afternoon and within 24 hours, he became unstable. He started requiring feeds every 2 hours just to maintain above 70 blood sugar levels. About 20 hours off of the diazoxide, we were headed for the 40s. This was a clear sign that he is still severely hypoglycemic. We administered double the glucagon we had in the past to bring his sugar back up. We also ran critical labs once again. This time, the results were again consistent with congenital hyperinsulinism. Ketones were at .10 and insulin levels were high. We started him back on his meds and stopped the study. We spent the next few days getting the medication built back up in his system and getting him stable once again.
This visit we were blessed to be followed by Dr. Nadia Merchant (who consulted with Dr. Paul along the way). Dr. Merchant is an incredible doctor who went all the way to her fellowship in genetics before changing her course and going to endocrinology. Two of the most complicated fields of medicine. She is one of the most intelligent women I’ve ever met. Dr. Merchant is also a little person. Standing at 3’6” tall, she will tell you, she has had to overcome so much in life. People always tried put her in a box. Tried to limit her. But, not her parents. They pushed her. She wasn’t allowed to use her genetic condition as a crutch. She sat with us for nearly an hour. She knows how disappointed we are but reassured us that there are so many things to be thankful for. We agree.
Jackson has medication that works, very well on him. We live in the United States with access to some of the best doctors in the world. We live in Houston with access to the Texas Medical Center being treated by a hospital that is very comfortable managing this disease. We have doctors that care about us on a personal level. There are plenty of things to be grateful for. We have a plan going forward, more tests to run, more programs to enter. Even though she’s not our main doctor, she made a commitment to us to see us through. She agreed it won’t always be easy, but with such a great support system, Jackson’s potential is limitless. Even though it isn’t the answer we wanted, we’re committed to making the best of our situation.
Unfortunately HI isn’t all we’ve had to worry about. Jackson’s lungs continued to deteriorate. Nine hospitalizations requiring high flow oxygen to aid him in getting over various viruses. We had an original diagnosis of Reactive Airway Disease, then Asthma, then a ton of possibilities. Inhaled steroids provided no improvement and he never, ever, was able to breath “normally”. After tons of appointments, a triple endoscopy, and swallow study, and suffering permanent lung damage, we found the he has silent aspiration. Poor kid. He’s been aspirating his whole life, and we never knew. The cause if a laryngeal cleft and vocal cords that were slightly too short, preventing them from closing all the way. He had two procedures last week and we’re praying for improvement.
They say a picture is worth a thousand words, but looking at this picture, I could tell you THOUSANDS. These are lancets and test strips from our sharps container at home. These are all from glucose checks and not even half of what we’ve used over the last few months.
To me, these are hundreds of pokes on the sweetest baby toes you’ve ever seen. These are scared moments when his sugar has dropped too low. These are late nights and early mornings awoken by his crying. These are calibrations on his CGM. Testing how new foods affected his sugar. These are from moments when he was throwing up and we didn’t know how long we had before he’d become hypo, when we were checking every 30 minutes (or less), all while rushing in Houston traffic trying to get to the Texas Medical Center. But, mostly, thankfully, these were our reassurance that he was okay. This is what our lives have revolved around for the last nine months.
This is us checking for “Sugar Bugs” – no idea why we started calling it that but at some point, one of us said it and it stuck. How many sugar bugs are we going to find? Let’s catch lots and lots of them! Yay!!! We found 92! Seems kind of silly but we are trying to make it a positive and fun experience. He doesn’t cry anymore when the lancet pierces his skin or wake up when we poke him at night. His big toes are so callused that sometimes getting a small drop of blood is a challenge. I remember when we first started this journey, his poor toes became so beat up and turned red with bruises.
Now, here we are, just days away from the start of our “Cure Fast” at Texas Children’s. I am so anxious. We’ve slowly reduced his Diazoxide intake. He’s gone from 9.54mg/kg to 8.18mg/kg. So far he’s doing really well. He’s had a few numbers near 70 but for the most part, he’s hanging out in the 120 range. I pray that this is a good sign. I’m scared to be disappointed because no matter how many times I tell myself “Don’t get your hopes up”, they’re up. After all, I am a mom with HI Hopes. It’s who I am. I want this so bad for him, for us. The next two weeks, I suspect will be a roller coaster of emotions but I want to know. It’s the not knowing that has me feeling so crazy. If he has to live with HI longer, or even the rest of his life, we’re going to manage, I know that, but I really pray he doesn’t have to.
My hopes are that one day the words that come to mind when I look at that pile of lancets and strips are in past tense. That they become things that we used to have to do. Distant memories as a life free of hyperinsulinsm start making new ones in our lives. How sweet that life could be. I don’t know if that’s what’s in the future for us but I’m holding that dream close to my heart and never letting go.
We arrived at Texas Children’s Hospital on Sunday at 7pm to start Jackson’s first Safety Fast since being released from the hospital in September. We knew it was going to be tough and we were as prepared as we could be. We didn’t think Jackson would last longer than eight hours but we really wanted to know.
I’ve read that several parents of HI kids prefer not to do the fast and skip the process. Withholding food and forcing a child into a hypoglycemic state does sound barbaric but we felt it was necessary to make sure his dosage of diazoxide was high enough to sustain him for a considerable amount of time, and to see if there were any changes in his lab results.
We started the fast at 8:30pm. He stayed on schedule with his dosage of diazoxide and was allowed water. He started with a blood glucose level of 81. From the start of the fast until his blood sugar dropped below 70, we checked his sugar every three hours. 70 – 55, every hour. Our goal was to see how low he would go before becoming symptomatic. Then at that point, administer glucagon, do the glucagon challenge (sugar checks every 15 minutes expecting to see a rise of at least 30 points in an hour), then run labs.
Jackson’s blood sugar stayed above 70 for 10 hours. We were shocked because that hasn’t been typical for him. He tends to drop below 70 over night but never below 65. We later found that our glucometer is about 15 – 25 points off from the hospitals. Theirs being much more accurate and confirmed by lab results. Jackson went from 70 to below 50 in about 2 hours, then hovered between 44-32 for HOURS. He never really showed, outwardly, typical symptoms of hypoglycemia. No sweating, clamminess, or shaking. Since he can’t communicate we don’t know what he was feeling on the inside but he was cranky, asking for milk, and overall a bit miserable. His CGM alarm was relentlessly going off. We learned that when your blood sugar drops below 40, you no longer see numbers, the app just shows LOW. After about 3 hours or so, he did lose the color in his face and we immediately stopped the fast, took labs, and administered glucagon. He was still active, playing, laughing between crying, very alert, but there wasn’t a point in pushing him much more. At that point, he had been fasting for 15 hours.
When Jackson has taken the glucagon challenge in the past, his blood sugar always rose as expected – Not this time. It was 34 when the injection was given, @ 15 minutes it was 44, @ 30 minutes it was 38, @ 60 minutes it was 32. I wasn’t expecting this and honestly, didn’t know what it meant. He was immediately given D10 (dextrose) through his IV and was allowed to eat. His blood sugar quickly came back up, all the way to 210! We turned off the dextrose and he stayed between 85-120.
When Dr. Paul returned to go over the the lab results and discuss the glucagon challenge we heard words that we never expected to hear:
These two results plus more things that are over my head, suggested that it is possible that Jackson has TRANSIENT HYPERINSULINISM! Something we did not think was possible at this point. From what I understand, I’m obviously no expert, is that most babies with transient hyperinsulinism are identified within days of birth and it typically resolves within the first 30 days of life but some later in the first year. Seeing as Jackson just celebrated his birthday and wasn’t diagnosed until he was four months old, the odds were not in our favor so we really never considered it. But, now, could it be? Dr. Paul thinks there is plenty of reasons to have HI HOPES.
There are three ways to test this theory:
We’ve decided on having him admitted. It’s not that we don’t think we’re capable of doing this at home, it’s that there is an added comfort of being surrounded by a team that is more well versed in this disease than we are. In an emergency, there is an army behind us. We think it’s the best decision to make for Jackson. So in two weeks, we’re going back.
Dr. Paul looked at me yesterday and said “You know, if he has outgrown this, you’re going to go through withdrawals.” He might be right. I have been running 100mph since August. My brain is constantly on 10 things at once, running from doctor to doctor, researching, advocating, running a Facebook page, a website, planning a fundraiser, up all night, constantly checking my phone to see what his CGM is reading, fighting with insurance companies, scared for him, afraid of the unknowns of the disease, that if he no longer has it, we will suddenly be moved into a “normal” life. I don’t even know what that looks like, since it has never been considered a possibility. That said, I’d much rather have a calm life with a healthy kid, than a hectic one with a sick kid.
None of this is a guarantee but there’s hope. I let Jackson sleep in this morning before rushing him off to daycare. Yesterday was rough on him and I knew he needed the rest. When I walked into his room, he jumped up to greet me, and I was overcome with emotions. No matter what the Cure Fast shows next week, I’ll never give up on him and wanting him to have the best life possible. This kid is amazing. He is strong. He is a fighter. He’s is sunshine and rainbows in every single storm we go through. He deserves a life free illness and I want this for him so bad. #wehaveHIhopes
Two years ago, I posted this picture on my Facebook page. It’s an excerpt from Matthew 17:20. “If you have faith as small as a mustard seed, nothing will be impossible for you”. I posted this as I clung to hope for an impending miscarriage. The whole verse is: “Because you have so little faith. Truly I tell you, if you have faith as small as a mustard seed, you can say to this mountain, ‘Move from here to there,’ and it will move. Nothing will be impossible for you.” In that moment of my life, I thought I could will a miracle and until the miscarriage was over, I held on to hope.
Now, here I am, at His mercy trying to will a cure for Jackson. My friend, Rebecca Smith, introduced me to a song by Hillary Scott – Thy Will Be Done. It’s a beautiful song that was written when Mrs. Scott suffered the loss of her pregnancy.
As a Christian, I wish that I had unwavering faith ALL of the time but I don’t. I’m flawed and human, and I probably challenge God way more than I should. I get angry with Him, sometimes I even give Him the silent treatment, I feel resentful, unheard, ignored, and I want to be in control. There are moments when quite frankly, I’m pissed. I know, I know, you aren’t supposed to be mad at God and if you are, you probably shouldn’t say it out loud or admit to it. I know He hears me. He knows me, better than anyone. He knows my broken heart. He knows I’m scared for Jackson, for the impact of things on my daughter, for my marriage, to lose the roof over our heads. He knows how fiercely and deeply I love my children, so why them? I may never know the answers but when I’m starting to feel lost again, I hear those words replay in my head – THY WILL BE DONE. Then I have to remind myself – He is God and I am not. It’s one of those things that, of course, I know but it’s hard to accept that I’m not in control. I don’t get to call the shots in my story, in Jackson’s, or for anyone else. I’ve been given this life and I have to try my best to be a good steward of it. I can pout, stomp, and shout all I want. It’s doesn’t change anything. When I’m done with my tantrum, it’s still there – Thy Will Be Done.
There are some days, here and there, that I can’t see past the struggles. I suspect all parents of chronically ill children have those days. I have my fair share of moments in which I dwell. When people ask “How are you?” – you rarely tell them the truth. You put on the brave face and smile so they don’t see how broken you feel. I think the mustard seed text speaks to those moments. Not the moments when life is going perfectly and my faith is the size of a football field. It’s my low days, when my faith is shaken and diminished, overtaken by self-pity, that it may truly be as small as a mustard seed, that I need to be reminded as long as I don’t give up, nothing is impossible. It’s easy to dwell when everything seems so unfair and you’re surrounded by unanswered prayers. Those days and moments are typically the exceptions rather than the rule but they are a real part of this journey. Not every day is a walk in the park, smelling roses, and chasing butterflies.
There are nights when I am so tired. I hear Jackson cry or his CGM alarm goes off. I jump out of bed like a well oiled machine. I have one eye open, navigating by memory to his crib. Trying to check his sugar in the dark. Half of the time not getting enough blood on the test strip, getting an error on the glucometer, then having to start all over again, all while trying to be a stealth ninja and not wake him. Those nights are my “normal” But, when it’s time to rise and shine and start our day, I drag my tired feet, walking into his room to pick him up, and out of no where, like a lightening flash sometimes, God’s grace SMACKS me across the face and I see it. I see the grace in my son’s eyes, in his hugs, his resilience, the precious moments spent laughing and tickling him, the excitement he gets when he catches my attention from across the room, when he smiles at a nurse after she’s been holding him down to put in another IV line, when he makes a stranger smile just by looking at them. I see the grace.
Jackson has taught me so much about life. His struggles teach lessons to everyone around him. He may not change the entire world, but little by little, this kid changes the world around him. I can almost promise you that my disagreements with God are probably not over. We have a long road ahead of us. The only thing that is a certainty, is God is in control and is driving this ship. On my worse days, when my faith is so little it can hardly be seen, I’ll continue to believe that all things are possible and I will remind myself of the beautiful grace He’s given me, which I fall short of deserving so often.