During the first year or two of this adventure with Abbie, I longed to hear good results, encouraging news, hopeful prognoses. Receiving any, or all, of those would constitute a good doctor’s visit. It didn’t happen often, but as I learned to use the Abbie-scale of assessment, and recalibrate the meaning of progress, evaluations and appointments became less painful, at least.
In the years since our acclimation to this life began in earnest, what I hope for from medical professionals has changed. Like most parents on such a journey , what I truly desire is information, with the prize jewel being information refined by a thoughtful exploration of the mystery that is my daughter. I don’t want to hear about “kids like these”, I want to discuss the singular wonder whose hair I brush and cheeks I kiss. There are no norms, models, nor neat boxes that encompass the life, body and being my daughter has recreated for herself.
Alas, even excellent professionals are often limited by time and infrequent experience with severe brain injury, so best case ends up being a hybrid — a Most Kids Martini with an Abbie-specific twist. I am grateful that they try, and do my best to fill the gaps, through hours on PubMed, an ever-growing library, and networking with other parents.
Sometimes I get too reliant on my ability to figure out everything she needs, which can lead to not really hearing, not fully listening. This almost happened at Abbie’s physical on 11/12/13 (had to write the date just because it’s fun). As we looked at her growth chart, I had visions of amber waves of grain ( and corn..and soybeans)…as her growth curve looked just like the Midwest…flat and then flatter. She hasn’t really gotten taller in almost three years.
Abbie is fortunate to have an exceptional pediatrician, who has walked every mile with us. So, Dr. Lau didn’t let me get away with saying “Well, actually, it’s kinda good she’s not getting taller, as it makes caring for her easier.” She agreed with that, but then said, “While that’s true, I am concerned there may be a global impact if there is a growth hormone deficiency.”
Whack to the forehead!
I had never, ever considered that. So, PubMed and I had a lovely, and stunning, dinner date that evening. Long story short, around 2005 researchers began to look at whether brain trauma could result in pituitary challenges for survivors. Yes. Around 2010 the studies began to focus on the effects of giving brain injury survivors growth hormone (GH) therapy. Obviously, not only did I not care about increasing height, I didn’t want to make it happen. But what I read made me wish we could try growth hormone with Abbie the next day. Yes, the researchers found that the kids grew some (around 4 inches over 3 years), but they also found that they experienced improvements in areas including processing speed, visual function, swallowing, respiratory function, memory, and to a lesser extent, motor skills.
One study stated, “In all cases…every participant” given GH saw improvement, and that the more significant the brain injury, the more notable the improvements. In this particular study, the subjects ranged from 2.5 months to 11 years out from injury.
In all my searching, seeking, tinkering, asking, and begging I’d never seen anything say “in all cases” – especially when referring to a positive change. I compiled a 38-page Word document of all the relevant studies and emailed them to Dr. Lau around 11pm.
Twelve hours later she called, having already spoken to Dr. Uramoto, the pediatric endocrinologist. Dr. Lau would order the labs and the wrist x-ray to determine Abbie’s bone age, so that by the time we saw Dr. U., he would have the information he needed to assess whether GH is an issue for Abbie. I felt so wonderfully respected and supported — which special needs parents also relish, as they are not always a given.
Our visit with Dr. Uramoto was today. This update has already been lengthy, so for those not interested in the detailed stuff, the bottom line is that we had a specialist spend an hour-and-a-half with us, talking through the Growth Hormone issue (she does need it, we’ll start as soon as we can convince insurance to pay for it…a couple months perhaps), and then branching out to really put together the pieces of our Abbie puzzle, really figuring out what is going on with her in some very complex and interconnected ways. Often, I feel alone in the forest, trying to manage certain things — like why Abbie needs so much fluid and salt, and to calculate others, like how much Vitamin D should I give her to keep seizures away without reaching a toxic level. So alone.
Today, Dr. Uramoto found our footprints in the snow.
I have great hope for a better quality of life for Abbie — I can’t even describe the sunshine on the drive home. Rays hitting my windshield, joined by emanations of joy from my heart were magical. But, there is also profound relief for me. At the end of the day, I am a mom, not a physician, not a researcher, and the strain of trying to become those for my daughter is only fully apparent as I lay that time-worn burden down…freeing me to be Abbie’s Mom, full-time. My soul exhales at last.
For those wanting to know all the intriguing things I learned today, read on!
Our discussion started with Dr. Uramoto showing me the results of two specific blood tests related to GH: one was lowish-normal, the other was low. But it didn’t become apparent that quickly, as the determination of normal and low are dependent upon the stage of puberty a child is in. Abbie’s bone-age Xray shocked me. I was expecting to see 10 or 11 years old. Nope. 13. Thirteen?? How can that be.
Seeing those results, coupled with Dr. Uramoto saying that the literature is not that clear yet on beneficial outcomes (beyond growth), and that he certainly couldn’t promise any of that, I had to suppress the fear rising in my chest. “He’s not going to support GH for Abbie” was the loop playing in my head as I tried to keep a neutral expression.
As we began charting the timing of puberty related markers, Dr. Uramoto explained that a fairly early onset of puberty makes bones look older than they are, while GH deficiency makes them look younger, so the Xray probably just showed the two things canceling each other out. With better puberty information, it became clear that the blood tests did show a GH deficiency, so we talked through the possible side-effects. Increased cerebral-spinal fluid could cause headaches. Blood sugars could rise. Soft tissue in the throat could grow and possibly contribute to apnea. All were not highly probable, though, so did not dissuade me.
So, we agreed that we would give Abbie an adult dose of GH (which is half the amount of a child’s dose). It should not cause her gain much more height (perfect!). If anything, her hands, feet and jaw will grow — which could help her orthodontic situation (bonus!) It will be a daily injection, but with a very fine needle. The biggest challenge will be insurance. GH therapy is not inexpensive, so we are certain to be denied at least once. What’s unknown is how long the “conversation” will last after that.
Salt and Fluid
The visit was winding down, and then the issue of salt and fluid came up. I explained that during a hospitalization in 2011 we discovered she had very low sodium, and needed fairly large amounts of salt to keep it in normal range. Managing this is key to seizure reduction. Around that same time we figured out that if Abbie is not breathing well, she needs more fluid. If her pulse ox numbers drop, the first thing we do is give her more water. She gets so much fluid daily that it freaks new nurses out. 600-800ml of Pedialyte daily (to help manage electrolytes), 300ml of water with salt, as well as 100ml or so of water flushes. And, that’s on a normal day. If she’s not breathing well, we just keep giving her fluid until things improve. As far as salt, in addition to the Pedialyte, she also get 3 teaspoons of salt in the food I make for her.
Dr. Uramoto was very intrigued by all this, as it is indicative of other hormonal system problems. Almost off-handedly, I said, “Oh, during one of the 2011 hospitalizations they did find that aldosterone (a hormone) was low….but, honestly, at that point we were trying to keep her breathing and help her overcome a C-diff infection, so I guess we never looped back to the aldosterone.”
At this point he determined we really needed to compare blood sodium and urine sodium — they should be the same: normal/normal, or low/low, if there is a mismatch, there’s a problem. We are looking at SIADH or Cerebral Salt Wasting. I told Dr. Uramoto it seems more like CSW, as SIADH calls for fluid restriction, while Abbie needs aggressive hydration. At this point the resident following Dr. Uramoto looked at me like “Who are you?” Dr. Mom…looking forward to retirement.
The aldosterone was also still suspicious, but we weren’t sure if it merited testing at this point.
Then, the resident took a turn at being the hero of the day. “Hey, what is this?” he asked, pointing at Abbie’s med list.
I had dreaded this. Pregnenolone. Basically a hormone precursor, I have been giving it to Abbie since 2007, when testing showed her DHEA was low. I was not comfortable supplementing that as it too directly affects sex hormones among other things. Pregnenolone, however, didn’t have noted side effects and minimal or no androgenic, estrogenic or anabolic action. As with everything I’ve given her over the years, I have tested to see if she still needs it by weaning it. That did not go well. Without pregnenolone Abbie had more difficulty breathing, more secretions, was blotchy and uncomfortable. But, to lay it completely bare, I buy it at Whole Foods – it’s completely a Dr. Mom thing at this point. A deep of the forest decision.
Now, here I was in the office of an endocrinologist explaining why pregnenolone was on her med list. Crap.
The conversation never lingered on the “why” or “what are you thinking”, because Dr. Uramoto’s face lit up as he scribbled a flow chart on the back of the lab results. Two parallel tracks led down from Pregnenolone, one ending at aldosterone, and one at cortisol. Our conversation up to this point had made us suspicious of the levels of both of these.
“Well, this makes things a lot clearer! If she is already getting pregnenolone, but her aldosterone was low, and cortisol is suspicious, then it is almost certain she has a problem with these, and the systems within which they act.” He also told me to keep her on the pregnenolone. Woo-hoo! I am in from the cold, now having a professional stamp of approval on pregnenolone.
So, Renin and Aldosterone were added to the lab slip. Cortisol uses a provocative test, which requires hospitalizations and blood draws over a 24-hour period. Yuck. I asked if, as all the other planned testing weaves together a picture, we would be able to deduce a cortisol problem and begin treatment without that challenging test. Dr. Uramoto explained that if you are on hydrocortisone (cortisol therapy) and don’t need it, there’s not really any harm. But, if you need it and aren’t on it, there are problems. So, I think we will probably end up considering treating Abbie as if it is low.
Between growth hormone and low cortisol therapies, Abbie could have a lot more energy soon. What she does with it will be exciting to see!
I was in awe of the fact that Dr. Uramoto was looking at so many details, and could possibly help find real answer to issues I’ve only been able to manage and not solve. And, then, just to ensure I never forget this day, he asked, “Has she had fractures?”
What?? Looking at another dimension 90 minutes into the appointment?
I described her femur fractures, and he told the resident to add a Vitamin D test to the lab slip. I grinned, and explained Dr. Lau had ordered it since I like to track it, and we were drawing blood for this appointment anyway, so we had the most recent levels right there. I explained that we didn’t use it for bone reasons, but added it after hearing from another near-drowning mom that it helped with her son’s seizures. We experienced the same thing, which contributed to cutting Abbie’s seizure medicine dosage in half this year. But, she is still having a few, so I have stopped weaning.
Abbie’s level is on the low side of normal, so he asked me what Vitamin D I am giving her. “Ummm…the Carlson Drops. I order them online.”
He then said some words to me I could not comprehend. He repeated them. I finally had to say, “I do not understand what you are saying to me right now.” Not doctor. Just mom.
There are different forms of Vitamin D. 1,25 dihydroxy vitamin D is the most active, but is not what was tested. He said, “Let’s see if we can get more mileage out of Vitamin D for her seizures if we give her this form, also called calcitrol. It is a prescription form of Vitamin D.” So, another box was added to the lab slip.
I’m not sure I said anything intelligible at this point. I think I just giggled as I tallied the score for the day:
Growth Hormone therapy: Check
Figuring out sodium issue: check
Figuring out fluid issue: check
Testing and possibly trying a more effective Vitamin D to control seizures and get off of medication: check
Lab tests in the next week or so, and a follow-up a week after that. Lots to look forward to!
Abbie has been giving it all she’s got, every single day. What she accomplishes stuns me on some days, and humbles me on all of them.
After Dr. Uramoto left the exam room, I told Abbie, “You have been doing all this amazing and brave work, all by yourself. Now, it’s our turn to help you, and give you the energy to do even more.” Grin with dimples…even knowing it involves a daily poke …
I can stop being Dr. Mom. Abbie can take a break from being an Olympic adventurer.
Time to just be Mother and Daughter is dawning….the joy is inexpressible.