Today we had a couple of routine appointments with some of Madison’s specialists, including her pediatric endocrinologist. Many of Madison’s diagnoses relate to her endocrine system. The hypothalamus is a portion of the brain that links the nervous system to the endocrine system via the pituitary gland, and unfortunately for Maddie, hers was damaged by the meningitis infection. The hypothalamus controls many things such as body temperature, thirst, sleep, and various hormones. She sees her endocrinologist approximately every 3 months, and we have routine blood work that needs to be done in between these appointments to ensure her electrolytes remain stable.
Due to the damage to her hypothalamus, Madison was left with the following complications:
- Pan Hypopituitarism (PHP)
- Diabetes Insipidus (DI)
- Temperature Irregulation
- Hypothalamic Obesity
Pan Hypopituitarism (PHP)
PHP is a condition in which the body produces an inadequate amount of pituitary hormones. While Madison’s actual pituitary gland functions normally, it doesn’t receive proper signals from the hypothalamus due to the brain damage. Cortisol is the body’s main stress hormone. A typical brain can sense when the blood contains the right level of cortisol and adjusts the amount of hormones it makes accordingly. For example, when the body is on high alert, during times of sickness or stress, your needs increase. Madison’s brain produces a deficient level of cortisol, which can in turn put her in a life threatening situation. She takes a steroid to replace what her body is not producing in order to keep her levels in check.
When Madison becomes ill or in a situation of stress (surgery, excessive heat, even just a really busy day), we need to “stress dose” her steroid, or increase the dose, to ensure that her body doesn’t go into shock or adrenal crisis. She takes hydro-cortisone in a pill form, which we crush with water, 3x a day, every day. We also carry Solu-Cortef, which is an emergency injectable form of the steroid, in the event of an emergency in which Madison cannot take a stress dose by mouth. Think of it like an Epi Pen for those who suffer a severe allergy. Luckily, we haven’t had to use that yet, and we’ve only had to stress dose Madison a few times over the past year (including our recent stint in the hospital as she fought off Bronchiolitis). Madison’s PHP has been stable since she was diagnosed and is something we’ll have to closely monitor as she grows.
Hypothyroidism is a condition in which the body lacks sufficient thyroid hormone. Unlike kids who suffer hypothyroidism due to thyroid gland damage, children with hypopituitarism typically have higher thyroid levels which can cause weight excess, constipation, poor muscle tone, and fatigue. Madison takes a pill called levothyroxine, crushed with water, once a day, every day in order to supplement what her body does not produce. Her thyroid levels have also been stable since diagnosis, although she will likely suffer with this condition for life. She gets blood work taken once a month in order to check her levels.
Diabetes Insipidus (DI)
DI is definitely the form of diabetes that almost no one has ever heard of (including myself up until Maddie of course). This is caused by a deficiency in ADH or vasopressin in the body. Whereas Type 1 or 2 Diabetes affects the way a person’s body regulates glucose, DI causes an imbalance of water in the body which then affects sodium levels. The kidneys are responsible for removing excess fluids from your bloodstream. According to the Mayo Clinic, the volume & composition of these fluids is balanced through a combination of oral intake & excretion by the kidneys. Fluid intake is governed by thirst & the rate of fluid excretion by the kidneys is governed by the hormone ADH. The hypothalamus makes ADH, which is released into the bloodstream when the body is dehydrated & concentrates urine by triggering the kidneys to release water back into the bloodstream, rather than into your urine.
The damage to Madison’s hypothalamus disrupts the production and release of ADH, causing Madison to either hold on to too much urine, or excrete too much diluted urine, in turn causing elevated sodium concentrations. Until Madison’s diagnosis I knew nothing about sodium levels in a person. I had no idea there was such a delicate balance going on inside the body of not only urinating appropriate amounts, but urinating specific concentrations of sodium too. Older kids with DI typically experience excessive thirst and the need to urinate more frequently. Because Madison can’t communicate a heightened sense of thirst, she is more at risk for dehydration and elevated sodium concentrations.
To treat her DI, Madison receives a medication called Desmopressin or DDAVP, which is essentially a man-made version of ADH. She takes this 2x a day, every day, and it is a specifically compounded medication. When she goes for blood work each month to check her thyroid levels, we also check her sodium. John & I also monitor her wet diapers to ensure she’s not retaining or excreting too much water. DI is super tricky to manage, but she has been stable for the most part since her diagnosis. What makes it so tricky is the very delicate balance of water & sodium the body needs to function properly. For example, giving Madison a simple sippy cup of water could totally throw off her levels. In fact, we’re only going to begin trying to add sodium to her diet, as well as just 5 oz of water a day, in the very near future to see how her body tolerates the changes. In order to give her water to drink on a regular basis we’ll need to get blood work done each week as we start to ensure her electrolytes remain stable.
Temperature Regulation Issues
This complication is pretty self-explanatory. When babies are born they all have some issues regulating their temperatures, but their bodies grow and adjust, and they eventually grow out of this irregulation. Madison however, still has issues maintaining proper temperatures. She can become hypothermic super easily, as well as overheat. In general, Madison’s normal temperature now runs cooler than most kids, approximately 96.5-97.8. A temperature of 99 can actually be considered a fever for her, and more often than not, instead of spiking a fever when she’s ill, she actually becomes hypothermic. When she recently fell ill with bronchiolitis for example, her temperature dropped to 92.3. Keeping her unwrapped for bath time for too long can even cause her temp to drop. There is no way to really resolve this issue, aside from being mindful of it and paying close attention to her body and surroundings.
This is Madison’s newest diagnosis. For those of you that know Maddie, or have seen the pictures I have posted of her since she was born, you know that she’s a CHUNK. She has the biggest most kissable cheeks, and more rolls than a bakery (#momjoke). Lots of folks thought she was so chunky due to the steroids she takes on a regular basis, but because she takes such small doses- and only to replace what her body isn’t making (nothing supplemental), they actually wouldn’t cause an increase in weight like most steroids. Part of her weight, could just be her. Some kids run chunky and they’re more lovable because of it! But a few months ago at her standard endocrine follow up, we discussed the likelihood of her excessive weight being due to hypothalamic dysfunction.
With so many other issues stemming from the damage to this part of her brain, it makes sense to me that that would in fact be the cause. Her endocrinologist explained this form of obesity to me in layman’s terms; essentially her brain is telling her body to hold onto calories that it should burn. This form of obesity is extremely hard to correct, even through diet or exercise, because the body simply doesn’t respond appropriately. Since this is newly diagnosed, and hard to manage, we’re currently in the process of coming up with a plan of action on how to face it, so stay tuned! For now, we’ll just keep kissing those cheeks!
One thing Madison hasn’t been diagnosed with, but is something we monitor closely is a deficiency in the growth hormone. This is often the most common hormone affected by hypopituitarism. This deficiency is corrected through growth hormone injections. Madison gets her growth hormone markers checked every other month through blood work, and so far, she has always remained in normal range. She is however only in the 2nd percentile for height for her age. She could be a late bloomer, or she could wind up needing help here. When I was growing up doctors wanted to give my brother growth hormones, my mom said no, and he’s now over 6 ft tall, so ya never know.. perhaps she just takes after her Uncle Mike! In her appointment today, we actually discussed whether or not she could benefit from a trial of low dose growth hormones to help her metabolism, and the obesity issue. Because she isn’t consistent with an actual deficiency in the hormone yet though, her doctor would like to discuss it with colleagues and her other doctors. I would hate to have to give her shots each night (although this is something John & I are already trained on, and had to do for other reasons for the first 8 months of her life), if a low dose will help her body metabolize and grow the way it needs to, we’re on board. For whatever it takes to help Madison reach her fullest potential is always our best course of action!
September 5, 2018
Thanks, Kelly, for taking the time to detail all that is going on and that is involved in Madison’s care. You are quite the mom to have a handle on all that has happened, what it means, what it requires, and to minister to, and fully enjoy your little girl, notwithstanding a daily med ritual/constant vigilance — with humor and joy!
September 5, 2018
Thanks Aunt Debbie! Love ya!
September 8, 2018
You’re super mom!!! Your daughter is so lucky to have been born to such strong people. Thinking of her always xxxxx
September 8, 2018
Thank you! Her strength makes us strong! 😘