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Alex's story

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Alex’s first six months were pretty normal except for some reflux and constipation. Our first sign of something being wrong was when we

introduced solids. Alex had allergic reaction to food after food. We struggled to find anything

that Alex could eat. By the time we got through his second year we had only found 4 foods that

Alex could safely eat. He also was sleeping more then most of his peers and would even lie

down when playing. At two, we travelled to Cincinnati Children’s Hospital to see a

Gastroenterologist who specializes in a disorder where the body sees food as an invader and

attacks the GI system. The specialist was not able to rule the disease in or out, but wanted us to

continue to trailing foods and return in a year if we were not successful. The testing while in

Cincinnati did reveal some immune deficiencies and hypoglycemia. Between Alex’s second and

third birthday he continued to decline. He became more lethargic, had multiple fevers over 105,

had several hypoglycemic episodes, was losing weight, and had his first seizure. Shortly after

Alex’s third birthday, we returned to Cincinnati and wound up there for almost three weeks as

they were adamant that we place a feeding tube. While inpatient Alex continued to have

extremely low blood sugars into the 20’s and 30’s. The Dr. asked us to go home and follow a

strict tube feeding regimen for 3 months, but if Alex did not show drastic improvement with

adequate nutrition they wanted us to look into Mitochondrial Disease. Three months later

nothing had really changed so we made our third and final trip to Cincinnati where they ran quite

a bit more bloodworm that all pointed to Mitochondrial Disease.

In February of 2008 we headed to Houston to meet one of the few Mitochondrial Disease

specialists in the country. It would be a week of appointments that would forever change our

lives. We met multiple specialists that week and had a muscle biopsy to diagnose mito. Dr.

Koenig felt based on Alex’s symptoms and labs that there was a high likelihood that Alex did

have mitochondrial disease. It was also decided that week that Alex would need to have a Porta-

Cath placed to allow easier IV access (he was stuck up to 15 times trying to start/keep an IV).

A port carries life threatening consequences of its own so it was not easy to hear. A month later

we back for the surgery for his port. In April of 2008, we got the devastating phone call that

Alex’s biopsy was positive for mitochondrial disease. Mitochondria are the parts of the cells that

convert food and oxygen to energy. All of the cells in your body (except red blood cells) contain

mitochondria. The severity of disease depends on which organs are effected and the degree to

which they are effected. In Alex’s case all of his organ systems are effected except for his

kidneys.

It was in August of 2008 that Alex had a huge setback. He contracted a minor infection, but it

had major effects on his already struggling GI system. His was unable to handle his tube

feedings and was placed on IV nutrition. It was also discovered that Alex’s debilitating stomach

pain (that he had been complaining about for years) was acute pancreatitis. We spent most of

the next 9 months in the hospital. Alex had two more surgery’s. One to remove his gallbladder

and try to make a larger opening between his stomach and intestines and when that failed to

improve his GI function they did a second surgery to place a second feeding tube directly into

his intestines. It was during this 9 months that Alex started requiring frequent blood transfusions

(as often as every two weeks) and increasing immune issues.

The next several years brought much of the same. Alex averaged over 100 days a year in the

hospital and we added intervention after intervention trying to stabilize him. In June of 2009,

Alex started having some new issues that led to a liver biopsy. We received devastating news

that Alex’s liver was severely effected and we would need to discuss possible liver transplant in

the future.

In September of 2010, Alex lost his best friend (and fellow mito warrior). It was a heart

wrenching realization for a six year old to lose a friend and realize he could die from his disease.

It was and is an event that he has never fully recovered from. Two months later Alex was in the

PICU fighting for his life in much the same battle Samuel had fought two months earlier. Alex

was placed on a ventilator, was in DIC (a disorder where your blood does not clot correctly and

causes you to bleed), liver and kidney failure, seizures and wound up with pancreatitis. While in

the hospital Alex also would up with a blood clot.

2012 brought the realization that Alex had a hole in his heart that needed to be repaired. He

also had multiple additional cases of pancreatitis and continuing scary bouts of hypoglycemia.

From the time of Alex’s diagnosis, we knew that his life expectancy could be shortened, but the

years from 2008-2013 were horrific. We went from one crisis to another. In 2013, we started two

new treatments that would turn our life around. One was/is an experimental treatment to

improve mitochondrial function. The other is an immune replacement that helps his body fight

infection.

In 2014, we received yet another life threatening diagnosis. Alex’s body is not making cortisol.

Any illness, stress, hard exercise, etc can throw his body into a potentially fatal crisis. We

experienced one of these crisis in October of 2015 that landed Alex in the PICU.

2016 was a pretty good year, but 2017 found Alex once again fighting for his life during multiple hospitalizations.

While Alex does not spend the same amount of time in the hospital that he once did, his care is

intense and constant. He takes 37 doses of medication everyday with more on hard/bad days.

He has his port a cath needle (in his chest) changed every week. He gets an infusion with two

more needle sticks every week. He can no longer eat any food by mouth. He is hooked to a

feeding tube for 20-24 hours a day and an IV 14 hours a day. He sleeps with Bipap.

The emotional toll this has taken on Alex and our whole family is immense. Alex is full of joy, but

he does experience anxiety and signs of PTSD. He wants so badly to be “normal”. His life is a

lonely life. He can’t go to school and doesn’t have anyone who truly understands what it is like

to be him. He finds joy in his dog, his sister, his church, his love of video games and giving back to our local hospital through public speaking and fundraising!