Our StorIES

"THE ODDSMAKER"

~ Nico's Medical Story ~

Nico was diagnosed with Chromosome 14 Deletion Disorder at the very early age of 18 months, by his endocrinologist, Dr. Cervantes, as a most probable explanation for his increasingly negative medical circumstances.

She had fortunately read an article in the "New England Journal of Medicine" about a young female with very similar symptoms.

Nico was then genetically tested, with the outcome being, he was in fact, the second child in the whole world diagnosed with this exceeding rare chromosomal disorder.

It is a brutal monster of a disease, and had already tragically claimed the lives of two young males at the age of 20 and 24.

Doctors have followed and journaled Nico's medical condition for years and still do so today.

They've named the deviance, the NKX21 Gene, which is further defined as a TTF1-Deletion or Thyroid Transcript Factor Deletion.

This cruel genetic anomaly can lead directly to thyroid cancer. It also affects our breathing enzymes called surfactants..

Nico has certain proteins that are missing, which if present would normally manufacture those very same surfactants, that we all need to survive.

He has three (3) genes that were deleted upon conception, all leading to his numerous medical conditions. And these missing genes are the reason behind his severe lung deterioration and the thickening of the walls of his lungs' air sacs, which makes it so very difficult for oxygen to easily diffuse through his body and is the causation for his major breathing problems. Depending upon the severity, this alone can lead to death.

He also has mild pulmonary hypertension, hypothyroidism, chorea (neurological disorder),

mild osteoporosis, and gastroparesis (mild paralysis of the digestive system), which are all systemic as a direct result of this incredibly rare disorder.

Thus far, Nico has had 17 surgeries and counting, as we are undergoing a major one, right now, to try to save his deteriorating digestive system.

Which leads me to the why for the title, "The Oddsmaker." Usually those facing these awful illnesses and diseases seek to overcome the odds, not set them as this remarkable young man has.

Nico's incredible inner strength, resolve and courage has helped him to overcome his illness thus far, against the rather crazy odds, and to defy the rather grim anticipated medical prognosis.

Nico is ... still here, alive and will never ever give up his fight for life!

 


"Hell No...I Choose Hello"

~Nico's Mom's Story~

My name is Debbie … 19 years ago; I was given a gift from God Almighty. He shined His heavenly light on me, and chose me to mother a very, very special little boy. 

Who would have thought I would have had a child who would have the tenacious courage of an army, an immeasurable hunger for life, and an enduring will to fight, with the most mountainous determination, a seemingly endless battle to win out over the Angel of Death. 

I had a little boy, who was destined from birth to become a medical marvel and an inspirational role model, as well as someone who was born with a purpose and alive for a reason. 

I was gifted with a most beautiful miracle, my son, Nico, who took his first breath on September 16th at 2:04pm and within 45 minutes, he almost took his last.

He was whisked away from me after he was born and shortly thereafter I discovered that he was strapped down in an incubator and on a ventilator fighting for his every breath and for his very life. Machines were literally latched onto my son and they were keeping him alive. He was swaddled in IV life lines connected through ports, and had bandages wrapped around his head covering his ears and his eyes. This precious newborn could neither see me, nor hear me, nor even touch me! 

The team of doctors was preparing to burden me with a mother’s absolute worst nightmare. They would moments later say to me and I remember it vividly, “Your son has minutes to live. Say your goodbyes.” I gasped …

What mother ever, and in what universe would ever, want to give their newborn child their last goodbye. I knew in my heart, I would surely give my last breath for my child, but certainly not my last goodbye.
 I told the doctors, while shaking inside and with absolute resolve, that this will instead be my first hello! 

From that moment on, I knew I would be facing one hell of a fight, if he were to survive. And I have been fighting that very same fight, ever since. 

Nico was diagnosed with what was described as an exceedingly rare chromosome deletion disorder, when he was 18 months old. He was the second child in the world diagnosed at that time, and over the intervening years, it’s been discovered that there are now possibly ten with this as yet unnamed orphan malady. 

Doctors learned about this disorder only by viewing and dealing with Nico's constant pain and continual suffering, as nothing else was known about it or in the medical journals, at that time. Thus far, he has endured 17 surgeries and I know, in my heart, he will be facing more.

One is forced to learn, living with a disease, and especially so when it is an exceedingly rare orphan disorder. 

Doctors honestly had no idea how long Nico would stay alive. There wasn't any research to fall back on and further complicating all of this; he also had many other secondary medical issues that plagued him. 

The extreme rarity of the disorder meant there was no ongoing research, because there was no funding, so I had to take it upon myself to save my son and knew, as a mother, I could not give up. 

I spent years researching, questioning, and finding new medications and therapies to help prolong my son’s life and ameliorate some of the associated pain. Little by little and through vigorous and never ending perseverance, I finally found the right doctors, who could help me and my son. I vowed to my Nico, when  he was just three months old and in an induced medical coma, that if he comes back to me, I would be his eyes to see, his heart to beat, his air to breath, his legs to walk, and his voice to speak. I still am married to the vow I made to my very young son, to this very day.

The never ending uncertainty plagues you and outright frightens you, at times. You, as a young mother, yearn for what is deemed by society to be a normal existence, and to further complicate things, I was also a single mom through most of those incredibly trying years. The pressures and the often the life threatening decisions weighed heavy on my chest. 

Days and nights spent worrying, am I making the right choices or decisions, can consume your every breath. It has in fact at times exhausted every ounce of strength I’ve had. Worrying about basic everyday life, being constantly overwrought by the spiraling financial burdens that we were facing, and Nico all at the same time and all on my own was indeed brutal. I could feel this beast hovering over my soul and choking my every exhale.

And yet somehow it can also ground you, humble you, and permit you to see the most beautiful things on our less traveled road. It also forces you to find the life in everything and appreciate all of the simpler things. 

We are all given a place to live, and it's a matter of living where we are placed, even though it may not necessarily be where we want to live. We have no choice but to learn to live with a disease. I know and embrace this.

Yes, it's brutal … Yes, it's draining … And yes, it forces you to find that blood from that stone. But it has saved my soul, as it’s taught me to have faith and let go of what I cannot change, and to make the best of what I was given. I’ve learned to overcome mountainous challenges.  I’ve learned to master the ability to grow through suffocating circumstances. And I’ve learned to handle all of these seemingly insurmountable pressures on my own.  

You don’t know how strong you really are until you have no choice, but to fight. And for me there were no other options. I always say God has given us the ability to make choices and I’ve taught both my boys, we have a choice to either overcome or succumb. We can either suffer with the life given to us or we can live with it. We’ve all decided, a long time ago, to overcome and live with it and in the most positive productive light. Life is, after all, what we make of it.

 

 And from this thus was born, “Paving Pathways for Tomorrow” …

Paving pathways towards a brighter future to ensure a more promising life for ailing children one paver at a time