Sometimes Answers Come Later

 Many of you who have known me for a while, know that I have 6 kids.  When I am asked by a new person. "Do you have children?", I say "Yes".  Then comes the inevitable, "How many?"  I really hate that question, my reply is usually, "I have 6 kids, but one is in heaven".  I don't want to make people feel bad, but I never want to ignore the fact that my firstborn is still my child, even though he is not here. And those of you who know me well understand that I don't want to lie either.  Yes, I have 5 children living on this planet, but I also have another who I believe is still living, just not here. 

My firstborn, Jonathan Charles McCormack was born September 6, 1991.  He was a really good baby. The only issues we had with him were the constant ear infections.  We were using antibiotics a lot.  I think that added to his health issues later on, and I had thought at one time that is what caused all his symptoms, but now I know I was wrong. When I say he was using antibiotics a lot, I mean A LOT.  He had constant infections, and when he was just 2 years old, the doctor put him on antibiotics every day, to keep from getting an ear infection.  That caused a Sulfa allergy, and after 6 months or so of that they had to stop. Then every time he got a new infection, the antibiotic they used the last time didn't work, and we had to try the stronger one.  True story, when he was 5 he had an infection that lasted 3 months, and the doctor kept switching up antibiotics until he actually said to me, "I don't know what to do, there are no antibiotics left to try, except this new one the drug rep dropped off last week".  I was very scared at this point, what was I supposed to do?  This actually led me to call a Naturopath, and delve into natural and homeopathic healing.  The Naturopath actually cured my son by the way, all he did was to allow Jonathan to heal himself of the last two ear infections he ever had by supporting his own immune system.  Imagine that, letting your body heal the way it was supposed to. (Yes that was sarcastic). He finally built up antibodies to the infections and never got them again.  Guess what, none of my other kids ever had to take an antibiotic for ear infections either.  

Unfortunately, my sons gut was broken.  All those antibiotics had destroyed it.  For a while he had constant diarrhea, which the doctor couldn't help.  That got better only if he drank bottled water.  It was just one thing after another.  He had terrible night terrors, waking up every night crying for about 30 minutes, and then finally calming down to go back to sleep.  He didn't remember them in the morning. He was not a strong kid, in the sense of doing a lot of running or wrestling, or playing sports, if that makes sense. He preferred to read, play video games, and do things that didn't require much strength.  We let him try baseball when he was around 8 years old, he didn't do well.  He seemed to have trouble running and swinging the bat. He was tall and thin at the time so we just thought he wasn't good at sports, not everyone is.  We put him in Karate, and he did the moves well, but he couldn't do the push ups, or required exercises for the strength training parts. He eventually asked to quit.  Again, just thinking that he wasn't cut out for sports.

Jonathan may have been sick a lot, but he was a great kid.  He was very gentle and kind, and always took care of his brothers and sisters.  He was like the third parent, always looking out for them.  He would always take time out to play with them, he was always helping them out.  He also loved to cook and would help me make lunch for them and sometimes help me with dinner.  He loved to watch cooking shows with me, who knows, maybe he would have been a chef.  He loved the Alton Brown Good Eats show, which was a unique cooking show because it showed the science behind the cooking. It was funny too.  We watched and learned a lot.  He loved anatomy, and I remember him taking my super grotesque anatomy book, (it had cadavers cut up so you could see their insides), and looking at it all the time.  We would go fishing, and come home and dissect the fish for fun.  Meanwhile his brother would run far far away and scream, that is disgusting!  He loved science and math, and exploring the outdoors.  We would hike in the woods with the kids, and he would always be the leader, looking for bugs and frogs, and whatever we could find.  He was also a straight A student, always getting great grades.

When he was about 14, we took all the kids to get a physical, and the doctor didn't like the fact that he was so skinny, so he did some tests.  His liver enzymes came back abnormal, and so the circus began. We started off with a pediatric gastroenterologist, who focused on his liver.  His liver was fine.  He was put on a diet of high calorie foods, and we went monthly to see them. He never gained a pound, no matter what we fed him.  A whole year went by, with no weight gain, and he kept getting taller.  I will say that this particular group of doctors was the worst, and had a really bad effect on me personally, because I was blamed repeatedly for his condition.  According to them, I wasn't keeping him on the diet, or I wasn't following their orders, or I was somehow responsible for what was happening.  I repeatedly asked about his gut and the overuse of antibiotics, and I actually got made fun of while they thought I couldn't hear them. I began to distrust and dislike the medical profession.  After that we were sent to a geneticist, and they saw my son for a year, with no answer.  They sent us back to the gastroenterologist. Shortly after that, Jonathan got pneumonia, and had to be admitted to CHKD (Childrens Hospital of the Kings Daughters).  They started with the tests all over again.  Liver biopsy, endoscopy, genetics, bone scans, everything.  Don't the forget the Psych consult to see if his parents were abusing him.  That was fun. No answers as usual.  The pneumonia was healed and he was discharged and I was so sick and tired of these doctors that I was DONE.  They obviously were no help.  At this point, my son was 17, 6 feet tall and weighed 99 lbs.

So I found another Naturopath. Should have gone to him sooner.  He took one look at my son and said I know what is wrong with him.  Tested him for food allergies, and did a complete vitamin, mineral, and blood composition test. We had to pay out of pocket.  He came back allergic to gluten and milk protein. The gastroenterologists had him on a high gluten and high calorie diet.  They told us to feed him a lot of pasta, bread, rice, milkshakes, mac and cheese, etc.  They were poisoning him the whole time, while making fun of me for asking about his gut.  At this point, I never wanted to see them again.  I still think they were idiots.  Sorry, but that is how I feel. It was January of 2009, and I started him on a diet to help with his allergies and gut.  We also went to another doctor that could give intravenous vitamins and minerals, he was so depleted of everything.  He got pneumonia again, and we had to give him antibiotics again, and then after that he had trouble breathing.  He began to complain of arm and leg tingling, and heart palpitations.  His oxygen levels were below 90, so the doctor we were seeing ordered oxygen. These new symptoms were not explainable, especially for his lungs.  I could see the muscles wasting away over his body, but it was attributed to malnutrition, since he could not gain weight.  It was all so difficult.  

From the time he was discharged from the hospital, which was in late December of 2008, to May of 2009, things continue to get worse, with really no explanation.  We had him on the new diet, we were pumping his body with vitamins and minerals, we were still seeing doctors.  We were spending a lot of our own money because insurance wouldn't cover the extras.  He had oxygen delivered to the house, and one day he went to sleep, and didn't wake up.  That was the worst day ever.  Do you know the cops wanted to charge us with abuse because he was so thin?  So they did an autopsy, which we wanted anyway.  They found a tumor in his brain, which the coroner said causes heart arrythmias and that is was the official cause of death.  We didn't know he had that either.  He was 17 years old, and now he was gone just like that.  It had a terrible effect on all of us in the family, and I think has haunted all of us for all of these years.  We just really never knew why he was so sick.

Fast forward to June 16, 2025 and our little grandson Benson Charles McCormack is born. It is awesome that he has the same middle name as Jonathan, because there is a connection that we could have never known.  He is the second grandchild, his older sister Alyssa is two years older.  It is so much fun being a grandparent! In Virginia, they test for genetic diseases when a baby is born, and we were very scared to hear that Benson tested positive for a disease called Pompe disease.  More testing would have to be done, but at first we didn't know if he had it or if he carried the gene.  His mother, Kaelyn, told me that some of the symptoms match up with what Jeremy told her about Jonathan.  I am intrigued, so I look it up.  Oh my, Jonathan had almost every symptom.  This is a disease in which the body can not break down the glycogen stored in the muscle cells, so the muscles in the body waste away.  I am really upset now, because if Jonathan had it, it means my husband and I both carry defective gene.  I'm upset because I don't want Benson to go through what we went through, although there are treatments out there now. The disease will shorten life expectancy for sure, it is not curable.  Praise the Lord, Benson was tested by a geneticist, and he is only a carrier of the disease, and will never have it!

So what is Pompe disease?  1 in 40,000 people have it.  It is very rare.  It usually takes 6 to 10 years to diagnose, because it mimics other diseases.  It is a defective GAA gene, which is the gene that tells the body how to break down glycogen in the muscles.  If you can't break down the glycogen, your muscles waste away.  There is infant onset and late onset.  Infant onset is usually fatal in the first year.  Late onset can begin at any time, and can be treated.  Treatment didn't begin until 2006.  Some people live into late adulthood, some don't.  It just depends on your symptoms.  What are the symptoms?  

Exercise intolerance and fatigue, muscle pain, cramps, and muscle weakness, gait disturbances and issues with walking long distances, abnormal liver enzymes, delayed motor development, breathing problems, weak cough, and frequent respiratory infections, heart arrythmias and enlarged heart, sleep apnea, and weight loss and digestive issues.  There are more symptoms, but these are the most common.  People who have this usually die from respiratory issues.  

Jonathan had symptoms early on that I never recognized, like the fact that he never crawled.  He rolled around, and then started to stand and walk.  (Delayed motor development).  He had exercise intolerance and fatigue, and that is why he never could play sports or do karate.  He couldn't walk long distances, and we really didn't realize that until he went on a mission trip to Scotland, and we were told when he came back that he had trouble walking, (they had to walk miles to get anywhere). His liver enzymes were always abnormal, and in the last year of his life he had many respiratory infections.  He would complain that he had trouble sleeping if he laid flat, and told us he had palpations.  Of course he had the weight loss and digestive issues, but I still totally blame that on the antibiotics and gluten and milk allergies.

All this time we never really knew.  The last two weeks has been very scary for all of us, waiting to see if Benson had Pompe disease, and Jeff and I knowing what it entails because we realize Jonathan did have Pompe disease.  We prayed and hoped that Benson would be just a carrier, and HE IS.  So it turns out that this two week period was actually a blessing, because we all learned something we never knew. Our kids need to get tested now, because with two parents who carry the gene the odds are 25% chance you will have the disease, 25% chance you will not have the disease or carry the gene, and 50% chance you will not have the disease but will carry the gene.  

Some things in life we will never know.  But sometimes things we didn't know get revealed.  I am glad to finally know what was wrong with my son, we still miss him very much.  One day I will get to see him again, and one day my family will all be reunited together again.  Love and miss you Jonathan, you will always be remembered as the gentle, caring, smart, and wonderful big brother that you are!