Friday, December 21, 2012

Truly One in A Million

How many of us look at our children and love their uniqueness, despite how difficult they inevitably can be?  I'm sure you all do.  I know that I look at my kids and grandkids and do my best every day to give them every opportunity to reach their potential.  We worry about their education and their health.  But what do you do when their health limits their potential. 

I'm sure not many, if any, of you have ever heard of Pro-opiomelanocortin deficiency disorder - abbreviated as POMC.  How could you when there is only one verified case in the United States.  That case is a little boy, Nathaniel - affectionately called Nater.  He turned four years old in August 2012 and lives in Florida with his mom. 

His mother had a normal pregnancy and delivered an apparently healthy baby boy.  As a typical mom, she saw her baby as the perfect, loveable child he was... and still is.  Developmentally, differences were noticed early.  Sitting up and crawling were delayed.  It took until May 2010 to discover why this happy little boy still couldn't walk, why he still couldn't do many things we take for granted when looking at our own beloved two year old's. 

Dr. Val Sheffield, a geneticist in Des Moines, IA at the Children's Hospital diagnosed Nater through a simple blood test.  Unfortunately, due to the rarity of this disorder, it's not easy to learn more.  In fact, Nathaniel's mom has only had semi-direct knowledge of four other cases; a girl that lives in Mexico; two boys in Germany (ages 16 & 18) and one case study of an adult male in Italy.  There are under fifty cases total in the world

POMC is a genetic disorder.  Nathaniel is actually missing half a gene R236G. (2P23.3 )  Other missing gene disorders more commonly recognized are Downs Syndrome and Prader Willis.  Prader Willis is closer to POMC in characteristics since they both exhibit hyperphagia.  This means that they are always hungry... Always!  Since it is genetic, there is no cure for it.  The symptoms are treated and a lot of attention, dedication, and love are needed to allow Nater to live his life. 

Because of the POMC, Nater has many other problems including: Adrenal Insufficiency (AI), which means he has to take steroids for the rest of his life.  If he is sick, his dose is doubled, if he has a fever it is tripled, and if he vomits or passes out he needs an injection.  Another issue is hypothyroidism, meaning his thyroid doesn't work.  The problem here is that he is allergic to the thyroid medicine, causing dehydration and upset stomach... resulting in vomiting and a needed injection of steroids. 

A third major problem is called hypothalamic.  The 'thalmus' regulates body temperature.  His doesn't work, so he can't tolerate either temperature extreme.  Summer months are difficult for him, making his beloved trips to the beach only possible from October through May due to the heat - even with the two specialized vests, donated to him, that help cool him. 

One more major issue this four year old lives with is anterior & posterior pituitary disorder.  The pituitary gland is in the brain and controls the endocrine gland.  An MRI showed that his pituitary is small and abnormally shaped.  This essentially means that if his pituitary gland was normal, he wouldn't have any of the problems listed above.

Some of, what his mom considers “bonus” issues include PDD/NOS - a processing disorder that some say fall in the autism spectrum; OCD - obsessive compulsive disorder; hypertonia - weak muscle tone; OSA - severe Obstructive Sleep Apnea; developmental delays; and if that weren't enough, he's farsighted and hates his glasses.

With the support of Dr. Miller, a pediatric endocrinologist at the University of Florida, Nater's mom has to severely limit his diet - restricting him to approximately 600 calories a day.  That's total; split into three meals a day.  Given his OCD and his limited diet, mealtimes are a challenge.  He has the same foods nearly every day.  The only variety he permits is one of three choices at dinner time.  If not controlled, Nater would literally eat himself to death.  He would eat until becoming sick, then eat more.  Without the careful supervision of his mom and day care workers, he could easily rupture his stomach.  This little boy eats so quickly that his mom can't eat with him - he would want her food as well.  Even the refrigerator is locked for his protection.

Despite all these hurdles, Nater is a happy-go-lucky child.  He sees the joy and excitement in the simplest discoveries.  While his mom runs him back and forth to doctors and therapists, counts his calories, watches his temperature and mood for any signs of illness, and struggles to get through the day; Nathaniel thrills in the simple pleasure of watching Thomas the Steam Train over and over and over.

Awake by 6:00am and downs his breakfast and medicines in no more than ten minutes before going to play.  At 8:45am they start the 45 minute process of leaving the house to go to "school", where he stays from 10:00am - 3:00pm.  Without fail, on the way home from day care, he will scream and cry to go pet the dogs at the local shelter he visited once.  Dinner is promptly and precisely provided at 5:00pm after which he will play with his Thomas toys, watch a Thomas movie, and get a bath.  With the help of Melatonin - a natural sleep aid, he falls asleep some time between 6:00-6:30pm.  You might think this would be the end of a long day, but things aren't so simple.  He routinely wakes up every three hours, gets a drink of water, and goes back to sleep.  And that's on a good day.

Nathaniel has two AFOs (Ankle Foot Orthopedics), his two types of cooling vests, a wheelchair, and a nebulizer.  He will be going in for a second sleep study soon, and needs a C-pap machine, but he no longer needs his walker - having walked into the doctor's office, for the first time ever, just months ago.  He goes to OT (occupational therapy), aquatic PT (physical therapy in a pool), and speech therapy. 

Having made several wonderful advancements, he is now about two years behind in mental development and is working on jumping with both feet off the ground.  Some of his long term goals are to ride a bike/tricycle, and get his own service animal.  He is currently on a list to receive his service dog and will get to spend a year of specialized training to work with his new helper. 

As far as the bike/tricycle goes... Well, that brings up another issue.  With the specific disabilities of this wonderful four year old boy, his mom can't simply go to Wal-Mart to purchase items for him.  They simply don't fit.  They are not built to hold a child his size.  After applying for and receiving a grant, Nater was able to get a custom made stroller that would be sold for over $900.  It allows him to enjoy the beach that he loves so much.  Wheelchairs, after all, don't work well on sand.

What does his future hold for this "island among an ocean of friends?"  The future only knows.  A group at the National Institute of Health in MD are eager to include Nater in a study that will be published upon completion.  They also hope to make it to the 3rd International Hyperphalagia Conference next year, if there is one.  That is as much planning as can be made.

While it is difficult for the majority of us to imagine our babies, or grandbabies, growing up into independent, responsible adults; this is something Nater's mom can't do.  Life comes one day at a time on POMC Island, the metaphorical island that is this sweet boy's life.  While others may look on and see everything trying to hold him back, Nater simply floats happily along and shares his happiness with everyone he meets.  When asked what she would want to say to the world if possible, Nathaniel's mom paused.  Even over the phone it was easy to hear the pain in her voice when she finally answered,

"Don't judge," she managed to say.  "He is probably happier than most people."

Nater's mom excitedly reported that he’s starting to develop an imagination and he recently lost four pounds.  This may not sound like much to most of you, but it is the first time in his life it has happened.  They didn’t even know if the possibility existed.  Nater’s mom also told me how much it hurts to see or even hear about other, "normal" kids.  We want so much for our children that we usually don't think of how much they already have.  His mom also told me that over the last four years, since his birth, he has been teaching her - teaching her to value every precious minute, every small discover, every hurdle crossed, every day shared. 

So, in this holiday season, when you are thinking about which video games or books your child or grandchild is now interested in, or even that play that your loved ones are in... For some people in the world, just being able to spend the day outside, going a day without having to rush to the hospital, or watching your four-year-old discover the pretty butterfly in his book and be completely amazed... that is what makes it truly one in a million.  Nathaniel is truly one in a million.  You can follow this wonderful boy's progress, learn more about conditions like his, and even help him achieve his goals through the sites listed below.  Please help me share his story and the awareness of such rare disorders.

Nathaniel's Pages:

Other organization links:

No comments:

Post a Comment