Figuring out Ronan

We are still in the hospital and will be for some time. Above is sleepy Ronan. His residency here is apparently extensive as they are putting in a PICC line.  This is because after so many hospital stays combined with blown out veins from too much poking has led to him having no where to draw blood.  They are also very concerned that if he pulls his IV out (an art form he's mastered)  they will not be able to get him IV meds in an emergency.

The Endocrinologist came by and talked to me today.  She said she suspects he has Hyperinsulinemia/hyperammonemia syndrome.  The two conditions of hyperinsulinemia and hyperammonemia can be conditions that indicate other metabolic problems but when they are found together with episodes of severe hypoglycemia they indicate their own syndrome.  The problem is with an amino acid called Leucine and it stimulates protein synthesis (formation).  It is found in animals (meats) and anything that is an animal product (milk, eggs cheese).   If Ronan has this disorder it means that when he digests a food containing Leucine something goes wrong with the protein synthesis and it triggers his body to produce excessive amounts of insulin.

The major problem with this is insulin then tells his body to get rid of sugar.  But his sugar levels are normal and he does not need the excessive insulin. Then when his body gets rid of the sugar he plummets into a severe hypoglycemic episode.  This makes sense because we had been increasing Ronan's protein to stabilize blood sugar.  Last night he had a large meal full of protein and then a little over two hours later he had a seizure from low blood sugar.  Today it is looking more like he does have this.  He's been put on a low protein diet and been put on the medication that treats this disorder and for the first time this week he has not had a single sugar low.


His Endocrinologist said this is extremely rare.  It's something she learned about in school but has never seen a case in all her years of practicing.  Her colleague who has been practicing even longer has never seen a case either.  She said she would never have guessed he had this but it was his labs upon being admitted that tipped her off.  His sugar level was in the low range of normal but his insulin level was extremely high as well as his ammonia level.  She put this together with the symptoms and she said it fits perfectly.  Now we wait for confirmation.  The lab work has been spent off to a specialty lab.  It will arrive sometime next week and will tell us for sure if he has this disorder.

His Endocrinologist said if this comes back negative then she has no idea and we'd be starting at square one.  She would then have to take him of all IV medications and try and trigger a hypoglycemic episode so they could draw labs while he is in a state of hypoglycemia.  Hopefully it won't come to that and this will be it.  The prognosis isn't horrible.  Ronan will have to pretty much be a Vegan.  No animals or animal products for the rest of his life.  He can't have meats, dairy, eggs, peanuts or soy.  Dietary will be formulating a diet plan for him before he goes home.  It's a good thing Ronan is not a picky eater but I'm sad he has to give up his all time favorite food. Yogurt.


He will be put on a special formula and it will contain all essential nutrients except the Leucine.  This will replace his milk and pediasure as pediasure was his main source of Leucine.  The doctor told me she would try to get Ronan home for Thanksgiving but was making no promises.  I told her that was fine because I'd rather him stay longer and have this taken care of then for him to be sent home too soon and then crash again.  If this diagnosis is confirmed he will be sent home on a new medication that is specific to this syndrome.  He will also be sent home with an emergency medication.  This way if he ever has another seizure I can can bring his sugar up and stop the seizure.  this will be essential since when he's having a seizure since I can not give him anything through his mouth.

This will involve a lot of monitoring and more specialists.  Ronan will have heart checkups to make sure his heart isn't being harmed.  He will also make regular visits to his Endocrinologist and this is something he will never out grown.  It seems daunting but I'm looking on the bright side it is very treatable.  Avoid the wrong proteins, have preventive medications and emergency medications and Ronan should be just fine.  I keep thinking back to last week when I had no idea that in a few days we would be given yet another life altering diagnosis. 


Ronan will see a slew of specialist next week and be given a mountain of tests but with the picc line being place he will not have to be poked anymore during his hospital stay which is great.  But the biggest blessing is no sugar crashes today.  I am thanking the Lord for imparting wisdom to the doctors to decipher all of Ronan's confusing symptoms and allowing them to save his life.

On a side note you can see in the pictures Ronan has a floor mat in his room.  I'm not sure if anyone remembers Ronan's hospital stay where he was insistent the floor was the best place for him to be.  He started his floor demands here and they brought him a nice cushioned floor mat.  He has been happily playing on it all day.  The amazing thing is he's very happy despite being in the hospital.  I actually haven't seen him play this well or laugh this much in awhile and I'm wondering if it's because they finally stabilized his blood sugar.  This whole time I was thinking it was all the hospital stays making him depressed but it turns out it might have been his blood sugar.

Which is the last thing I have to mention.  His Endocrinolost thinks this has been happening a long time but never got bad enough to be noticed until recently.  She said it might even explain his long term apnea as this can cause apnea if left untreated.  She told me she feels bad because he has been her patient for almost two years and she never caught this.  But I don't think she could have until now because he never showed major problems until now.  As she left the room today she rubbed Ronan's arm slightly and told him "I'm going to fix this, Buddy. We're going to make you better."

Below is Ronan's excitement when he realized Elmo's World was playing on the TV.