Grayson
Grayson, a Ketotic Hypoglycemia Warrior
This is Grayson! He is the most sweetest, kindest, loving, silliest boy ever. I had an urge to go check on him 21 days before his due date. I don’t know why, but it was a strong urge, so after my biology class, I stopped by early labor just to check. 4 hours later, we got admitted for induction. He had decels and failed his ultrasound for movement. He was born the next day and immediately transferred to the NICU for respiratory distress (the cord was around his neck). His heart rate dropped many times during labor and pushing. He was in the NICU for 3 days; he was suspected of sepsis and what we believe was acidosis at birth. I also noticed he looked different; he had a recessed chin and a bell-shaped chest, and the NICU doctor called him floppy. Once getting home, we were in and out of the hospital for poor feeding, lethargy, fatigue, and jaundice.
He got put on thyroid medication at 6 weeks old, and it cleared up his jaundice. I still knew something was off. Grayson was extremely tired all the time. He developed unequal pupils and torticollis at 3 months old and was sent to PT (physical therapy). She was baffled he hadn’t seen cardiology, neurology, and genetics yet. She told me the term “hypotonia” and said he was 5% for his age, 15% adjusted, and said he was delayed. We then got a diagnosis of PFO, RBBB, and slight tricuspid valve insufficiency from cardiology the following month. The neurologist determined Grayson was too complex for him.
After developing more issues later on, he transferred him to higher-level care, who also said Grayson was too complex for him. (We’ve dealt with this a lot). Genetics was certain Grayson had a genetic disorder. Still, all of his testing to date has been “undiagnostic” and really blew her away, so she said she thinks he either has something rare or undocumented. So we had many appointments and many struggles but no answers as to why. We just went along with everything for the time being because most of the doctors we saw couldn’t help us. After much pushing, he was diagnosed with sleep apnea at a year old.
At 2 years old, he started developing even more symptoms. Worrying ones. He always seemed sick, very tired, napping again, morning throwing up, bruising, and night sweats; I thought he had cancer. Bloodwork was unremarkable; he always had abnormal labs but never enough to show anything specific. He then started having bradycardia and wound up in the ER after a scary heart rate dip. His thyroid was double the standard limit, so they upped his meds and sent us home. We noticed his heart rate was bouncing around on the monitor, and he was referred to an electrophysiologist who ruled out his need for being symptomatic bradycardic for a pacemaker. We still had no answers for what was going on. EP said he thought something else was causing his heart to respond, not a heart problem. We’ve learned Grayson is very complex, and not many can figure him out; many other doctors (including CHOP) are still curious about his heart symptoms, so we are going to TCH soon.
With more symptoms and complexity being noticed, more fatigue, energy and mood swings, weight loss, heart and breathing symptoms, plus the off-and-on unexplainable sickness, it led to me push and push and push. I purchased a home glucose monitor and was able to see his morning sickness was from low blood sugar (hypoglycemia). We were told he was just having stomach bugs for a year, but that didn’t sit right with me. I brought him to the ER, and we saw he was having tachycardia and elevated blood pressure. 2 weeks later, he presented with being sick with very high tachycardia, but the ER couldn’t explain why. We got admitted, and on the 2nd day, he became shaky, and I told the nurse I thought he had low sugar. (I had just recently discovered this myself 2 weeks prior, but I knew he’s always shaky when he’s been “sick.”) He checked, and his sugar was 45. This led to more bloodwork that showed ketones. I then contacted his endo, who diagnosed him with ketotic hypoglycemia, and said it was common amongst smaller children who hadn’t eaten for a while. We quickly learned Grayson has something way more complex than that. Weeks later, he was in ketosis all week with tachycardia but was diagnosed multiple times as doctors were unaware of his condition and that he was actually requiring intervention. Weeks later, he went into a metabolic crisis with acidosis and was brought in via ambulance, where we discovered he obviously had an issue because he had been eating fine, so it didn’t make sense. That gained us an emergency protocol, and the amazing PICU doctor found my son needed d10 to stabilize him. And told us we need a metabolic doctor very soon. (We have an appt in May.)
Right now, we are unsure of the eating plan he needs, but meat seems to send his body into ketoacidosis. In a few months, we will travel to Cleveland, Ohio, to the only center that treats KH and glycogen storage disease. We’re unaware of what metabolic disorder he has; it could be GSD, an acidemia, just KH, fatty food oxidation (he has 2 genes for this), etc.
Grayson is also suspected to have something called autonomic dysfunction. This could explain his heart rate, blood pressure, and weird pupillary symptoms. Not many treat someone with that condition as young as he is, so we are hopefully traveling to Texas to see their only neurologist who treats that soon.
He also has respiratory issues that we are hopeful we can figure out. It isn’t easy not knowing what’s going on with your child or how to help them, but we are making more progress and figuring out more answers. Grayson has taught me a whole new form of love and strength. He has taught me how to follow my gut since day 1. He has taught me how to be a fierce advocate. He has shown me incredible strength and bravery, watching him go through countless labs, IVs, and testing. He is truly amazing.
We just saw a liver doctor who thinks Grayson may be affected by a liver failure gene, TRMU, that he has a mutation on. He knows Grayson has something metabolic and possibly mitochondrial. He said Grayson will probably need a liver biopsy to see if there’s any mitochondrial damage. But surgery or anything that requires fasting poses a considerable risk for Grayson as it would cause him to go into crisis. He needs continuous IV drip of a special solution to avoid that, and he gets it when he’s sick as well because his body needs extra help staying healthy. Grayson also wears SMOs for his pronated ankles and has a speech delay and a developmental delay.
He has always been obsessed with construction trucks and tractors! He loves really anything related to transportation, including riding 4-wheelers. He loves Toy Story, Paw Patrol, Shrek, and a few others! He also enjoys playing imaginary play with his big sister.
Update:
Grayson is a 4 year old little boy who has a complex medical history. He’s had therapies since a baby to help with his low muscle tone. From sleep studies to numerous hospitalizations, he’s never let any of that dim his shine!
So far he has diagnosis of hypotonia, anisocoria, autonomic instability, hypothyroidism, some heart conditions, hypermobility, fatigue, and his main one he struggles the most with is ketotic hypoglycemia.
We are still on his journey to get his overall diagnosis that will explain everything. Hopefully that will be within the next year!