Failed Cure Fast and New Challenges

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.

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.

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”.

Insurance Denies – CGM

Jackson’s endocrinologist requested that he receive a Dexcom G5 Continuous Glucose Monitor. He warned it would likely be denied by the insurance company.

I seriously thought, there’s no way. How could the insurance company deny a device that could literally save his life? I have talked to the insurance company several times since Jackson’s birth and truth be told, they’ve been incredibly pleasant to talk to. No issues whatsoever.

When the insurance company denied the claim, even after prior authorization, I was a little shocked. I know, I had been warned but they had been so easy to work with, I expected more from them. I decided to call and talk to them. Surely, if they understood Hyperinsulinism, there’s no way they would deny it, right? WRONG

Their reason? “BECAUSE PATIENT DOES NOT HAVE TYPE 1 DIABETES, THIS DEVICE IS NOT MEDICALLY NECESSARY”. Ok, deep breaths. So I go into a long drawn out explanation of HI, the risks and the need for continuing to monitor blood glucose levels. I try to stick with simple facts:

  • He doesn’t have diabetes, but has a disease that affects his glucose level.
  • He is severely hypoglycemic.
  • If his blood glucose level (BGL) drops and I don’t catch it, he could suffer brain damage or worse.
  • He’s six months old, he can’t tell me if he doesn’t feel good. This machine will communicate for him.
  • This machine isn’t just necessary for diabetics, it’s necessary for all people who have to monitor BGL 24-7.

That wasn’t enough justification. So in a desperate plea, I submitted an appeal. Telling them everything I knew about the disease and basically begged that they’d re-consider. Julie with Congenital Hyperinsulinism International also wrote a letter encouraging them to reconsider. Asked that they look at the facts. The truth is, if he suffers brain damage, the medical expenses will far exceed that than the coverage of this device. It’s the right thing for them to do and could save them money in the long run.

They said they’d make a determination on the appeal in 30 days. So… we wait.