Being Taught To Fly

Jack is a silly, snugly beautiful 4 year old boy with amazing dimples and a laugh that warms your heart.  He loves his sisters with every fiber of his being and loves to tell jokes like "Why did the soldier flush the toilet?  Because it was his duty!" He loves cars and planes and superheros. Little does he know that he is a real life superhero.  Inspiring those around him and amazing us everyday with his strength and courage. His newest feat?  He is about to teach his parents to fly.

You see, in three short years (the first year he was seemingly healthy) he has undergone xrays of his entire body, more bloodwork than we can count, months in the hospital, years of taking 10+ medications a day (anyone who has little ones knows this is not easy), a spinal tap, over 20 days of anesthesia, gi scopes, daily vomiting, been assaulted by daily seizures sometimes almost 100 a day, struggling with loss of cognition and motor skills, weekly therapy and the list goes on.  Most importantly, he has never had a single day that he has felt good, never a time where his belly didn't hurt and his legs weren't tired.  And yet he smiles and laughs and loves.  He is our hero.

The moment is here that we've waited 18 months for, our trip to the NIH.  For those of you that don't know, the NIH is the the leading medical research facility in the nation and the largest medical research facility in the world.  And they are interested in Jack, our little sweet, funny boy.  If we have any shot to help him, this is it... the best of the best.

The program that we are entering into is the Rare and Undiagnosed Disease Program which we applied to in July of 2013 and were finally accepted in May of 2014.  This program has access to information and research that is not available anywhere else in the world.  We are both hearbroken and excited to have this opportunity.  You see, admission is based strictly upon medical evidence and the evidence must support that your condition is rare (potentially never heard of) and that doctors cannot diagnose your condition.  Yearly, approximately 1,000 people IN THE WORLD apply and about 100 are selected, 40 of which are pediatric. 40 kids are selected a year and they chose us. It is a privilege to be accepted and it provides hope. We understand this may not result in a diagnosis today, tomorrow or maybe even ever.  But we are doing everything possible for our little guy and we will never give up on seeing those sweet dimples or hearing that giggle everyday  for the rest of our lives.

Living in the Grey

For the last six weeks, I've sat down a dozen times to update the blog and can't find the words that can communicate what our family has going on.  I have a few drafts saved, they are either completely technical filled with medical jargon, containing no emotion OR a few paragraphs of rambling from a broken heart.  Today I am trying to find the grey between the black and white.  The place where my broken heart and my obsessive knowledge gained from my pastime of reading medical journals meets.

I've changed over the past months, we've changed as a family.  Where I once knew how to explain or give a quick response when asked "how is Jack" I no longer know what to say.  Michael's canned response is "he's fine" I either mimic that response or say we are "plugging along".  There is truth to both of these statements and it may just be the answer some are seeking when they ask.  I feel others that want to know more or those who care about our boy are left with unanswered questions. 

My last update left with Jack not eating, loosing weight and vomiting every day.  We did some inpatient testing which showed that his stomach is not moving food to the small intestine.  Normal digestion of an 8oz milk/pediasure is 1-2 hours at most.  Jack is digesting it in about 8 hours or 1oz per hour.  Solid foods are harder to break down than liquids and take longer.  Bottom line, he's always full and always feeling that full bloated feeling... which causes reflux and vomiting.  To add to the problem, he has pancreatic insufficiency where he doesn't produce digestive enzymes on his own.  We feed him artificial enzymes before he eats or drinks and the life of the enzymes is one hour.  With that being said, he's gaining nutrition from about 3oz of formula a day.  The GI offered a surgery called a pyloroplasty where they cut the spincter between the stomach and the intestine so it now functions as a leaky valve.  However, the potential for over cutting is great and he could end up with gastric dumping which would actually be worse for his digestion.  He would also need a feeding tube but not a normal Gtube that feeds into his stomach.  He would need a Jtube that feeds directly into the intestines  This would give him nutrition but leave him unable to eat or drink anything by mouth at all.  No water, no milk, no cupcakes at birthday's, no icecream, nothing. 

Obviously this was not a good answer for us, but considering he is literally starving to death we didn't know what else to do.  We went back to Boston for follow ups with neurology, genetics and we were able to get an appointment in their motility clinic.  The motility clinic offered us a different medication to try as a last effort and so far it is working.  He has gained a couple of pounds and is eating decently.  However, the medication will not cure the problem and is a bandaid to the situation.  We are now in an off cycle of this medication, you need to cycle on and off for it to be effective, and we are back to not eating and gastroparesis.  Another monkey wrench in the situation is when his stomach is not emptying he is not absorbing his seizure medications, which is obviously a huge problem. We are counting the days until we can cycle back on and have our family feel better again for three weeks.  

We are continuing some genetic testing and will be doing a 48hr monitoring for seizures in a couple of weeks.  This is just a glimpse into the big picture that is Jack, the best update on our largest issues.  As always, thank you for all of your love and support and for hanging out with us in the "grey".  

The Business of Eating

You were given this life because you are strong enough to live it

Mothers have an instinct to feed their children.  I know so many Mom's who stress over what their kids are eating and how much.  We worry about ingredients and balanced meals, we fight the wanting candy or cookies, we puree veggies to sneak into foods, we disguise healthy foods in shakes or popcicles.  It is just in our nature to nourish our children so that they can grow and thrive.  So what happens when this doesn't happen, what happens when as a parent, you can't get your little one to eat?

You try even more things, you resort to medications to help with motility, to help increase appetitite to help the belly pain stop.  And when that doesn't work... you finally give in to more testing, and you cry.  Jack has always had a hard time in the digestive world due to his exocrine pancreatic insufficiency.  Since he was 12 months old he has had to take replacement digestive enzymes to digest his food.  These must be taken before he eats anything.  What a pain this must be for a kid, especially when they have to wait to eat or drink to get their medication first.  The good thing is that he really doesn't ever remember any other way.

Jack has always struggled with his weight due to not being able to absorb fats or carbohydrates on his own. He has struggled with episodic vomiting, reflux and eosinophilic-esophagitis in addition to the pancreatic insufficiency.  We are at a point now where we've been unable to maintain his weight and Michael and I have devised any way possible to do this.  We supplement with Pediasure 1.5 which provides him with 700 calories a day which has been our saving grace but he is even refusing that now along with nightly vomiting which is causing damage all on its own.  

Tomorrow we will get admitted into Arnold Palmer Hospital for a series of testing to hopefully find an answer for our little guys belly pain.  A big thank you ahead of time for those amazing friends helping us out with the girls and for everyone's continued prayers for Jack and for our family.

Knocking

It is amazing the strategies that you will formulate, the inventive ways you will find to do things, the drive that pushes you when your adrenaline kicks in. We've all been pushed up against the wall, pushed to our limits, thought there was no way out.  From time outs to grounding, to losing a job.   Whatever your wall is, we've all been there, from children to adults. When it seemed hopeless that there was no way out of the situation, you found your way.  The first breakup, when you felt like life would not, could not go on... do you remember?  You found your way out of the situation, life went on and still does.

At first with Jack's health we didn't really say much to anyone.  As crisis' arose and we started to realized that nobody really had answers we started to talk. A friend who has stood by our side from day one, who actually brought Jack home from the hospital...story for another day... reached out and asked her pediatrician what would she do if this was her patient?

Her answer was the NIH.  The National Institute of Health is a government agency directly responsive to Congress who is responsible for the medical research of the United States of America.  Um, ok... so how does this fit into our picture?  The NIH houses a division, rare and undiagnosed disease.  They accept about 50-100 patients a year, gathering information for the advancement of medicine in the US.  They have access to information and potential cures and treatments before they are released to the public medical system.  We felt pushed up against a wall where Jack was concerned, we were ready to try anything.

So, we knocked on that door, and they answered.  Their answer was yes.  Yes, they will accept Jack as a patient with the belief that they can help him and advance medicine to help other children in the future through him.   Again we find hope.  It took a year of back and forth sending records, even hair samples to reach this point. 

In the fall, we will travel to the NIH with guarded anticipation and hope.  We will not give up, we will not let our boy go without answers.  A flood of mixed emotions fills our family.  We are scared, yet hopeful.  Doors are opening and we are walking though, lead by hope and love for our boy.

“Ask and it will be given to you; seek and you will find; knock and the door will be opened to you"

 Matthew 7.7

The Love of Learning

We all want to give our kids their best shot in life via a good education.  Their education determines where we buy our homes, what jobs we take to pay for school, how we save our money for when they go to college and so many more decisions.  And in the end, we hope to foster their love for learning so they grow up, go to college, get a good job and become successful.

UCP Charter School, The Experts for Children with Special Needs.  This is where we chose to send Holly and Jack.  Special needs.  Today's mainstream thought on special needs is integration, putting the special needs child into a general education setting to encourage  their highest potential functioning. Putting a typical child into a special needs classroom?  Yes,  Holly chose to be just that kid and we supported her decision.  After all, doesn't Holly have special needs too?  Don't all children?  

UCP was a perfect fit for Jack.  Small classroom ratios allowing for extra attention for the medications that he needs to take during the day, extra one on one time to help him with some of his learning delays, the ability to get therapy for his fine motor skills during school hours and a staff who is trained to deal with his seizures.  Yes, perfect.  Jack had a great year with wonderful teachers who not just taught him, they loved him.  Finding ways to get him to eat, easing his fears of transition with a safety plan, calming a nervous Mom when seizures occurred.  Even a day when I received a call that he was found unresponsive during nap time and an ambulance was called, they handled amazingly and he was always in great caring hands. 

Holly has attended therapy every week for two years.  Morgan has attended occupational therapy every week since she was 2 weeks old.  Typical girls growing up in a not so typical household.  As normal as we strive to be, Holly endures a lot as well. Small classroom ratios, teachers who understand our family and can comfort her when her brother is sick or in the hospital and a one stop drop for Mom, perfect.  

What we didn't expect was the compassion that came from Holly attending school here.  Yes, she may be the only child in her class without an IEP, but she has special needs.  Not only did Holly pass Kindergarten with flying colors but she learned that everyone is different and that different is okay.  She has a friend in a wheelchair, one who eats with a feeding tube and one who doesn't speak.  Holly has learned to feed another child with a feeding tube, learned to understand someones feelings without using words, learned what brings joy to someone who can't smile on the outside.  She's learned to think outside of the box, making a valentine bracelet of bells for a boy who cannot read or enjoy a card or candy.  An unexpected gift from a school. Gifts that will transform who she becomes and that she will carry with her for the rest of her life.  We are so proud of our Holly Cakes and can't wait to see the great things she will do with these gifts.

Support

A definition of support in Miriam Webster is to endure bravely or quietly.  This is what we’ve been doing since our last blog post, supporting each other (or as Jack would say, theirchother) as a family. I now feel that we need to again share where we are at in our journey.  We’ve been going at the speed of light, enjoying and soaking in the good days/moments and wading through the tough times. 

We left Boston in January with hope in a bottle called Ethosuxamide and a metabolic team who would surely have the answers.  Jack is not a candidate for any type of brain surgery for his epilepsy due to his seizures being generalized, or occurring all over his brain without a focal point or side.  In addition, there is likely an underlying cause for his seizures and surgery would not cure him anyway.  The wonderful team in Boston rediagnosed his main seizure type as atypical myoclonic absence seizures.  Seizing approximately 6 times an hour without us even noticing, causing Jack to be antisocial, scared and withdrawn.  Also causing learning delays, physical and emotional damage... again I say we had no idea what the monster Epilepsy really was. 

A new medicine is where we find hope and were able to enjoy a glimpse of a boy we once knew.  For a month people, even ones we only know in passing, were commenting on how happy Jack was. How they haven’t seen him smile in forever, how amazing his smile is with those double dimples.  He didn’t cry going into school, he got his confidence back; he got his smile back and got his first EEG without ANY seizures!

Unfortunately this was short lived.  The story of Jack is that of a roller coaster ride.  Great days of laughter and swimming and days of throwing up and seizures.  So we put one foot in front of the other and continue to search for answers.  In April, Jack had a very traumatic spinal tap which showed abnormalities that we are still trying to piece together. Out of this has come one new diagnosis cerebral folate deficiency and yet another medication, topping us out at 12 medications, a lot of them given at least 4 times a day.

We will be traveling to Boston in August as a family for follow up appointments and some much needed family downtime.  Until then, we are counting down the days until school is out and we can swim and play and laugh and smile.  And what happens in between those moments we will get through until the next smile.

Jeremiah 29:11, For I know the plans I have for you, plans to prosper you and not to harm you, plans to give you hope and a future.

Boston

Let me start by thanking everyone for their prayers and well wishes, it seems to be working! I am going to try to keep up with updates while we are here, as I know there are so many people along on this journey with us.

We had our first appointments yesterday at Boston Children's Hospital and I am so impressed with their team. The doctors really listened, were never rushed and had some ideas already about a course of action for Jack. Our first appointment was with Genetics who evaluated him and discussed in detail all of his abnormalities with his urine and blood work along with physical symptoms. Their concern is the same as our doctors at home... he has so many different systemic issues that can't be explained as to why they are occurring. Genetically he doesn't fit into any of the "more popular" syndromes and so far our genetic testing has not revealed any abnormalities. After much discussion he is being referred to their metabolic team. This team deals with the more rare disorders and since he has some metabolic abnormalities it seems like the perfect fit. This team will come in and evaluate him and complete their testing while he is being monitored for his epilepsy.

Our next appointment was with neurology. Her concern is the evolution of his seizure type and the fact that even with medications he is still seizing and having abnormal electrical discharges in his brain. She has reviewed all of his past EEG's and MRI's and feels that his epilepsy may have started as a focal type but has now evolved into a generalized type. This means that the seizure has no particular focal point of origin and that his whole brain is seizing not just one particular area. What does this mean? This means we will repeat testing and long term monitoring starting the 19th to get another view of his seizures and how and where they are occurring in his brain. If they are in fact generalized we will first try some medication changes and then discuss two other options. One is surgery and one is a VNS which is an implanted device that helps control seizures.

This is the short version of our 8 hours yesterday. I am hoping Jack gives us some good data next week and that both teams can find a solution! Again, thank you to everyone who is praying for us and sending us good vibes. Special thanks to the MOPS from FUMC for feeding Michael and the girls and to all of our wonderful friends that are helping out with Holly. More special thanks to all of our great friends who contributed to keeping Jack and I warm and entertained during our trip!

Finding Hope

2014, a year of hope for the Power family. The New Year always reminds me of my mother. In 2007, we said goodbye to a year where my Dad had undergone cancer treatments and my sister had spent a lot of time making bad decisions that effected our family. We were welcoming this New Year with open arms, hoping for health and love for our family and my “ new family”. I had just announced that my parents would be grandparents for their first time, making the prospect of 2008 being as my mother called it…” Our best year yet”. Little did we know that in just six short weeks we would say goodbye to my mother forever. Every new years eve, I still hear her say “Our best year yet”.

2014 brings hope of health for Jack and healing for our family. Jack and I will travel to Boston Children’s Hospital the second week of January. He has appointments scheduled with neurology and genetics during our time there. Two weeks ago his neurologist in Boston took his case to their monthly surgical conference where they deemed his case worthy of more testing to find help to control his epilepsy and to hopefully figure out what is causing his many other issues. He will be an inpatient for at least 7 days with appointments the week prior to his admission. Michael will remain at home with Morgan and Holly and try to maintain some sense of normalcy for the girls while continuing to work.

This will be the first of several trips to Boston this year for us, I’m sure. Jack is hoping to see snow and excited to take his first trip on an airplane. Holly is excited to spend time with her Daddy and Morgan will be excited to have her first birthday. Michael and I are hopeful that this WILL be “Our best year yet”, a year where miracles happen and healing takes place.