During the last 18 months we have spent so much of our focus on Owen's cleft lip and palate (CLCP), eyes, ears and other surgeries that we only reference his PHP in relation to these procedures. In reality, it's probably one of the most severe medical challenges a 'normal' person can face. In Owen's case he was born with Congenital PHP, meaning from birth his pituitary did not function. In utero he survived on the hormones my body produced. Once the umbilical cord was cut, he was cut off. We nearly lost him. In the delivery room the Cumberland Hospital doctors made a life saving decision when faced with a dying baby- they drilled into his leg bone and gave him a shot of adrenaline. It's what his body needed, it kept Owen alive.
It was only when we mentioned our oldest sons Ashton's peculiar pituitary presentation on and MRI and his lack of growth hormone that the doctors at Children's even gave PHP a thought. For days the neonatal intensive care doctors struggled to keep his blood pressure stable, his salt/water ratio normal, his jaundice at bay and blood work within normal ranges. An MRI (presentation identical to Ashton's) and a bit of blood work and he was diagnosed- PHP, no pituitary function.
The very first endocrine doctor we met at Children's explained it this way- The thermostat in Owen's home is broken. His hardware store doesn't carry replacement thermostats. Every function of the home will be affected, unless we can balance the climate with the tools we have available to us. We must improvise. As homeowners/builders we related to this analogy very well. Sadly, this doctor retired the next day.
Here is a quick summary of what the leaders in the medical community have to say about Panhypopituitarism
The pituitary is a small bean-shaped gland situated at the base of your brain, behind your nose and between your ears. Despite its size, this gland secretes hormones that influence nearly every part of your body. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. If there is decreased secretion of most pituitary hormones, the term panhypopituitarism (pan meaning "all") is used.
Panhypopituitarism is a rare disease- A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday.
The hormones secreted by the pituitary gland help regulate important functions, such as growth, blood pressure and reproduction. For example, the pituitary secretes:
- Growth hormone (GH). This hormone controls bone and tissue growth and maintains the appropriate balance of muscle and fat tissue.
- Anti-diuretic hormone (ADH). By regulating urine production, this hormone manages water balance in your body. A deficiency of ADH results in a condition called diabetes insipidus, causing excess urination and thirst.
- Thyroid-stimulating hormone (TSH). This hormone stimulates your thyroid gland to produce key hormones that regulate your metabolism. Shortage of TSH results in an underactive thyroid gland (hypothyroidism).
- Luteinizing hormone (LH). In men, LH regulates testosterone production. In women, it fosters production of estrogen.
- Follicle-stimulating hormone (FSH). Working in tandem with LH, FSH helps stimulate sperm production in men and egg development and ovulation in women.
- Adrenocorticotropic hormone (ACTH). This hormone stimulates your adrenal glands to produce cortisol and other hormones. Cortisol helps your body deal with stress and influences many body functions, including blood pressure, heart function and your immune system.
- Prolactin. This hormone regulates the development of female breasts, as well as the production of breast milk.
I'm not pleading for pity, just understanding and education. We've quickly found that congenital PHP is nearly non-existent, we've only been able to connect with less than a half dozen people/families worldwide. We have connected with some people that have developed PHP as the result of a traumatic brain injury or tumor- that seems like the most common occurrence. Since Owen's pituitary is non-functioning so are some of his primary glands. His thyroid gland, his adrenal glands as well as his ability of his liver to turn growth hormone into growth factor to make him grow do not function.
The single most difficult hormone to manage is cortisol. The pituitary produces a hormone to stimulate your adrenals to work (adrenaline rush) or Cortisol. Cortisol is bodies steroid, the fight or flight response, the bodies natural ability to cope with a stressful situation- whether it be physical stress or emotional stress. Owen gets Cortisol three times a day to mimic a healthy level of cortisol (adrenal function). When he is ill, having surgery, too hot, too cold, teething, very physically active, or under any type of bodily stress as parents we must anticipate his needs and adjust his levels to make his body cope with the stress. Our pharmacy has a second 'stress' prescription in the event we've had to stress dose him during the month and his monthly supply runs short. We then need to gradually wean levels down when we think he's over the stress so he doesn't crash from the shock.
It's ironic to us that just months prior to Owen's delivery Ashton had an MRI that presented malformed anterior pituitary. It was a clue for us in the challenges that Ashton had faced in his first 2 years of life. It was the prelude to Owen. Ashton was producing all hormones, except Growth Hormone. This isn't completely uncommon, but left untreated has dire consequences- those which we were witness to his first years of life. Low muscle tone, gross motor delay and the inability to grow.
Ashton solved Owen and Owen solved Ashton... there's no doubt about it. They are not cookie cutter, but cookies from the same batch. One just got more chocolate chips than the other. It's astronomically rare to have two members of the same family affected- we are the exception.
So, now what? Owen is PHP and Ashton is Hypopituitarism and teeters on the edge of full PHP. The first step for us is admission and acceptance. We don't want these diagnosis' to define our boys, but it does mean lifelong treatment and monitoring- a life of medications and management. Both boys have been treated for 18 months. Ashton's Endocrine Doctor finally came to terms with Ashton's diagnosis when Owen was born. She was in denial that his pituitary was producing all but Growth Hormone, now with the birth of Owen she knows- we're lucky for what his pituitary is producing despite identical MRI presentations of both boys.
Ashton and Owen both get growth hormone injections every night to aid with their linear growth and normal muscle development. Both Shelby and I are trained on these injections as well as Papa and Grandma Fox. Every day Owen takes a thyroid pill to stimulate his thyroid gland to work and he gets Cortisol three times a day. Once ready for puberty Owen and Ashton will receive supplemental hormones to help their bodies go through the process of puberty- they otherwise would not.
Now what? Fear mostly. Medication is the only reason Owen is breathing... no medication means no Owen. On a daily basis, giving medication isn't a big deal to us anymore- it's our normal now. The fear of him having to go without medication is terrifying. In the case of a traumatic injury or car accident he needs an emergency injection of cortisol now. We carry one with us, but if I'm not able to relay the information the responders need to check his bracelet. I've recently been informed that emergency responders do not carry emergency injectable steroid... I've been meaning to make some calls about that (I've got to get on that).
PHP and Hypopituitarism are such rare disorders they are misunderstood and misrepresented. We have gone through the 'functional screen' process with both of our boys to ensure continued care despite insurance coverage. They both have been denied, in short- because their condition was not 'bad' enough and not properly understood. I'm not sure how bad it has to be, if I quit giving Owen medication he will die. Despite our private insurance we rely on Wisconsin Badger Care to help with the co-pays for the boys medical appointments and prescriptions. Their Growth Hormone is over $1400.00 a month alone. If our Governor is successful in raising the family income caps to qualify for the Badger Care program, we could face financial devastation. If/when I go back to work full time- it's nearly a sure bet that we will no longer qualify. I fear the day our sons can no longer carry our private insurance- how will they get the medications they need?
Yes, I have fear. I also have Hope. I have hope for a future. I can see the potential and sparkle in the eyes of my babies. I know that as long as properly medicated my sons can both lead productive and normal lives. (Whatever 'normal' they choose!) They can be successful, have families and live fulfilled lives. I have hope that our sons will help others to understand that you can overcome life's challenges and struggles no matter how big. Everyday is a journey and we have faith and without a doubt are aware of the blessings that our boys have brought to our life despite their unique challenges. They have opened our hearts and minds to all those facing a specials needs and challanges, we hope you will follow.
God Bless. Love & Hugs always,
Sarah & Shelby Fox
