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 I’m asking that you consider joining the #raredisease community in fighting to ensure it will not be weakened or repealed as part of the tax reform.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.
Update on our little superhero:
We’ve recently had to increase his diazoxide dose to the highest amount since diagnosis, 12.3mg/kg. For almost two weeks he has become more unstable than he’s been since he was discharged in September. Oddly, only in the mornings/early afternoons. Some days in the 40s, but mostly low 50s/60s. 60s aren’t really too bad and not such a concern. But 40s and low 50s are a sign that something has clearly changed, especially when it happens within 45 minutes of eating. We don’t know why the sudden change. Once he reaches 15mg/kg of medication, we will have no choice but to seek other forms of treatment which include; injectable medication, feeding tube, or after we exhaust all other options, a near total pancreatectomy. Hopefully it doesn’t get that far, that would be the last thing that we’d want, but if he continues his pattern, we may have no choice. Before any of that, Dr. Paul wants him admitted back to Texas Children’s for closer observation, labs, and controlled diet, testing various meal types. If things don’t improve over the weekend, I suspect he’ll be readmitted next week. Despite all that, this kid is a trooper. You’d never know by looking at him that he’s so sick. Which is scary for those watching him, but I’m grateful that at such a young age, he enjoys life so much. ❤
On Wednesday, we had our genetics appointment with Dr. Craigen. We have one more test to run called Global MAPS. This test will look for biochemical abnormalities in his plasma. If that is inconclusive, our final step in the genetic discovery will be applying to be in the Undiagnosed Disease Network (UDN). There is no guarantee that we’ll be accepted but we have a passionate endocrinologist with a strong genetics background championing Jackson’s case to the board. Dr. Nadia Merchant will present his case and will work to forward not only his case, but all of those with undiagnosed genetics suffering from Hyperinsulinism. I think she wants this as much as we do. One bonus is that Baylor College of Medicine is one of two sequencing cores, meaning there are no travel expenses for us to participate in the program. Please pray that Jackson’s case gets approved. It may not change his prognosis but it could lead to great advancements in the Hyperinsulinism world. We really want this.
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.
From a fellow blogger and friend, Dani.
I love quotes. There are so many really good, meaningful quotes about the importance of community. “It takes a village to raise a child.” “We rise by lifting others.””Alone we can do so little; together we can do so much.” “Your vibe attracts your tribe.” Community is not just important, but valuable to the human experience. If I believe one thing only about people, it is that we are powerful when we come together for a common cause. You can see it in volunteerism, in disaster recovery… or in my case, in making life a little easier for a mama with her baby in the hospital.
I’m a part of this amazing community. Most of us have never met each other. We have every spectrum of income, education, politics, and religion. Just about every style of parenting, relationship, career and lifestyle can be found in our group. We are all…
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