It’s more than a news headline – This could change everything.

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 I’m asking that you consider joining the #raredisease community in fighting to ensure it will not be weakened or repealed as part of the tax reform.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.

https://salsa3.salsalabs.com/…/p/dia/action4/common/public/…

As always, thank you so much for the support. xoxo

#themoreyouknow #wehaveHIhopes #hyperinsulinism #orphandrugs #taxreform

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Safety Fast for Hyperinsulinism

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.

wehavehihopes cgm low.pngJackson’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:

  1. Jackson was making ketones! This is something that he hadn’t done in the past which is typical of those with HI.
  2. The glucagon reaction suggested that his liver was distributing glycogen appropriately which is why it didn’t “work”.

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:

  1. Let him outgrow his dose of diazoxide to get below 4mg/kg.
  2. Slowly start weening him down.
  3. Admit him back into the hospital for a Cure Fast.

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

 

 

Dr. Jason Goldberg, UTMB

Dr. Goldberg is a “HI Achiever” that was thrown into the HI world by chance – A perfect storm that brought he and Jackson together. Perhaps some sort of divine intervention.

As you know, Texas Children’s Hospital has been instrumental in the diagnosis and treatment of Jackson’s Hyperinsulinism but our journey started before we landed on their doorstep. With me sitting in Dr. Goldberg’s office, scared, and desperate for help. Not knowing that the new doctor we had to see by default, would become the one to help save his life.

When Jackson had his first seizure and starting acting abnormal, we went to our local emergency room. There, the attending doctor dismissed us.  I now know this happens all of the time with these kids. No one looks at a baby and thinks “I wonder if they are hypoglycemic?”. This doctor made me question my own judgement and made me feel like I was overreacting.  He told me “babies do this all of the time when they’re teething, it’s completely normal”. He even laughed off our concerns. We had such a large age gap between kids it was understandable that we’d be quick to jump the gun. I regret taking his words to heart because Jackson continued to suffer. I became too unsure of myself to get an immediate second opinion. Each day, nothing changed. His temperature was cold, he would zone out, I couldn’t get his attention, he had no energy, and he stopped crying for food. After three more days of this, enough was enough. I needed another opinion.

I called to make a same day appointment with our pediatrician. She was out of the office so we took the first available with Dr. Jason Goldberg, he’s with University of Texas Medical Branch (UTMB). I’ll be honest, I was a little disappointed to have to go to someone we’d never been to before but in that moment, I had to take what we could get. I trusted the pediatrician’s office, I just wasn’t in the mood to deal with someone new. As I was headed to the appointment, I knew I wouldn’t be able to leave without answers. I couldn’t have another doctor dismiss me. I needed someone to listen. We needed help. I had never met Dr. Goldberg before but I went in feeling like I was ready for a battle. Hopefully, I didn’t scare him. In our talks since then, I know I made an impression. He’ll tell you, I was in momma bear mode.

Dr. Goldberg walked in our exam room and introduced himself. Without missing a beat and not giving him time to get another word out, I pounced. Looked him dead in his eyes, more desperate than I have ever been, and said “Something is wrong with my son. Don’t tell me I’m overreacting, I have common sense and I am not going to be dismissed. My son needs help”. As straight forward and slightly rude as I was, he said “Ok. You know him better than anyone. You tell me something’s wrong, then something must be wrong. Start from the beginning”. So I did. I could see it in his eyes, he too knew something wasn’t right. This wasn’t normal. He and I both suspected something neurological may be happening. He told me to get in my car and head straight to Texas Children’s. He said “If they won’t see him, call me, if I have to keep this office open late and get a specialist here, I will do it. Whatever we have to do, we’ll do it. We’ll figure this out”. I took Jackson and we headed straight to TCH, and you know how that story goes. We arrived with his blood sugar at 21, likely moments away from brain damage or possibly death. We arrived just in time.

Dr. Goldberg continued to follow Jackson through a shared system UTMB and Texas Children’s have. He even called us a few times during our three week stay, just to see how we were, if there was anything that he could do to help. See, he’s not just a good doctor, he’s a good person.

Once we were ready for our discharge at TCH, we were told to make thing simpler, we should switch Jackson’s primary care to a TCH doctor. Keep all of his healthcare within one system. That may have made things more transparent but Dr. Goldberg helped save his life. We weren’t going anywhere. We were staying with UTMB, we were staying with Dr. Goldberg. He is the best pediatrician to treat Jackson.

Dr. Goldberg has gone on to research hyperinsulinism, diazoxide, and be as prepared as possible to help keep Jackson healthy and to make educated decisions. He’s done everything he can to make the transition between both systems seamless and no matter how busy he is, he never rushes us. He always looks at the whole picture. He researches. He asks questions. He cares about my son. He cares about my family. I really couldn’t ask for anything more.

There aren’t many doctors like him and we could never repay him for all he’s done to keep Jackson safe and healthy or the sanity he’s given me on my rough days, when I show up in his office stressed, scared, tired, overwhelmed, or even in tears. Dr. Goldberg is who you’d want in charge of your child’s health. My rare kid, has a rare doctor. We’re pretty lucky.

I See the Grace

11141172_10153165086870502_3955407104832353909_nTwo 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.

Welcome to Holland

In the last several months, I keep coming across an essay titled Welcome to Holland. Some people love it, others not so much, but I think it’s an easy way to put something so Welcomecomplex into an analogy everyone can understand.

Welcome to Holland

By Emily Pearl Kingsley

I am often asked to describe the experience of raising a child with a disability to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this:

When you’re going to have a baby, it’s like planning a fabulous vacation trip to Italy. You buy a bunch of guidebooks and make your wonderful plans… the Coliseum, Michelangelo’s David, the gondolas of Venice. You may learn some handy phrases in Italian. It’s all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”

“Holland?!”, you say. “what do you mean Holland? I signed up for Italy! I’m supposed to be in Italy. All my life, I’ve dreamed of going to Italy!”

The stewardess replies, “There’s been a change in the flight plan. We’ve landed in Holland and it is here you must stay.”

The important thing is that they haven’t taken you to a horrible, disgusting, filthy place full of pestilence, famine and disease. It is just a different place. So, you must go and buy new guidebooks. You must learn a whole new language. You will meet a whole new group of people you would never had met. It is just a different place. It is slower-paced than Italy, less flashy than Italy, but after you have been there while and you catch your breath, you look around and you begin to notice that Holland has windmills, Holland has tulips, Holland even has Rembrants. But everyone you know is busy coming and going from Italy and they’re all bragging about what a wonderful time they had there. And for the rest of your life you will say, “Yes, that’s where I was supposed to go. That is what I had planned.”

The pain of that will never, ever, ever go away because the loss of that dream is a very significant loss. But if you spend your life mourning the fact that you didn’t go to Italy, you may never be free to enjoy the very special, the very lovely things about Holland.

Sometimes I feel like I’m in both places at once and other times I feel like I’m in Greenland so far removed from everyone. The point of the essay is to say life doesn’t always turn out like you expect. I have been a parent for nearly 15 years and it hasn’t always gone as planned but even still, I never expected this journey.

When you’re pregnant everyone asks “What do you want? A boy or a girl?” – I gave the standard answer that most parents give “I don’t care, as long as the baby is healthy”. I said that so many times and of course, I meant it. With genetic testing before pregnancy, high risk appointments every two weeks, more ultrasounds than one could ever hope for, I really thought we would land in “Italy” safe and sound. I never even considered a detour.

I have probably spent too much time mourning the loss of a “typical” childhood for Jackson. I fear his childhood memories will consist of hospital rooms, being hooked up to machines, constant pokes, be woken up every night and forced to eat, and stressed out parents worried about him, about money, and everything that comes with this package – I hate that for him. But, I can’t change where our lives have taken us. I can, however, stop and enjoy all of the beauty that our “Holland” has to offer. I’ve been entrusted with two beautiful children, who love me, and make me a better (albeit exhausted) person. This journey is hard but I promise you, it’s worth it. I just hope we can stay in one spot for awhile, I’m not ready to be a “world traveler”.

Life Can Sure be Sweet

Our lives aren’t easy on most days. Five hospitalizations in the last few months have left us stressed, scared, and overwhelmed. Yet we are stopping to enjoy the sweetness in our lives. Jackson is about to be one year old!

hihopes picture.png

In the last year we’ve learned so much and met some of the most amazing people.We’ve seen our family and friends rally around us, we’ve learned to advocate, we’ve seen our older child grow and mature in her fight for her brother, and we’ve seen our “Sugar Baby” become a hero right before our eyes. No, it’s not always easy but life can sure be sweet.

Jackson has been mostly stable. A few scares here and there when his sugar drops for no apparent reason and we fight to get it back up, but I’m happy to say that has become the exception rather than the rule.

He’ll be readmitted in the next few weeks for our first Safety Fast since diagnosis. Our goal will be to fast him on Diazoxide alone to see how long he can go without eating. This isn’t a full proof method but this is one of the only tests we can do to gauge if he’s getting any better, worse, needs an increase in medication, and how long we have if he’s unable to eat before things take a dangerous turn for the worse.

So many things can affect your blood sugar; illness, pain, outside temperature, level of energy burned, to name a few. So how he responds in the hospital may not be how he responds in a “real life” scenario but it’ll give us a starting point.

CGM – APPROVED!

The CGM was finally approved and we love it! We had to go through the State of Texas Independent Review Organization (IRO) for a final appeal but UHC’s decision was over turned!

The reviewing doctor responded with:

This young infant was diagnosed around four months of age with altered mental status and seizures. There was concern that he had been hypoglycemic and possibly experiencing seizures for some time. He has since stabilized on diazoxide. However, despite diligence to do blood glucose monitoring every three hours, frequent feedings, and conscientious medication administration, he continues to have severe hypoglycemia spells. He is unable to communicate symptoms with his parents, increasing likelihood of severe hypoglycemia. This inturn increases his risk of brain damage and intellectual disability. Use of a Dexcom G5 continuous glucose monitoring system would allow for near continuous glucose monitoring, allowing the family to intervene as needed, preventing periods of severe hypoglycemia and reducing potential risk for brain damage. This device is medically necessary and appropriate for this baby boy.

This was a long fight that required standing over fax machines, staying on hold for hours, tons of phone calls, and possibly a few tears on my end. I’ll never understand why I had to fight so hard but in the end, the reviewing doctor understood the severity of the situation and did the right thing.

wehavehihopes cgm.pngRight now we have the CGM placed on  the top of his thigh. The first insertion was a challenge and he cried a lot but now we’re getting the hang of it. He uses an iPhone to act as a transmitter and as long as he’s on wifi (like at daycare), I can check his sugar through an app on my phone every five minutes. There are alerts for when his sugar is dropping too fast, under 70, and under 55. Definitely worth the fight.