One of the worst parts of having a child with a rare disease is the dilemma of having to take that child to a new doctor when there is an emergency. Andy fell off a chair on Friday night and had a pretty nasty bump on the back of his head. While he seemed to be fine after about 20 minutes, it was bedtime and he was extremely tired, rubbing his eyes, and wanted to go to bed. I was scared to let him go to sleep in case he had a concussion so I mustered up enough energy to get him dressed and took him to the urgent care. Of course, the problem with that is you have to fill out paper work before seeing the doctor. There is always the question of what other chronic conditions your child has and, though diabetes is listed, I always have to check “other” and list Neonatal Diabetes. In the section that asks what medication your child is on, I have to list glyburide. You would think it would be second nature for me to explain in very simple terms, but when you try to give the simple explanation, “Andy has a rare genetic form of diabetes and is on glyburide instead of insulin”, the questions come flying from doctors, nurses, assistants, etc. Sometimes I will go into detailed explanations, but on this night, I just wanted to get his head checked and get out of there and get the kids to bed.
So two nurses came in to get his temp and blood pressure. Now we have to go into another explanation of why I have a 4-year-old who screams and can’t communicate. Quickly, I just explained that he is developmentally delayed. They were great! For the first time, I actually had nurses who took the time to let him explore the machines they were using before bombarding him with them. The blood pressure check went off without a hitch! The thermometer was a different matter. I explained that there was absolutely no way he was going to let them put the thermometer in his mouth so they finally decided to use it under his arm. After some initial struggle and screaming, he calmed down as we talked to him. The thermometer reading slowly crept up as Andy watched the screen with the numbers. Now a break for a few minutes while we waited for the doctor.
By the time the doctor came in, Katie was getting fussy so Andy was joining in with her. The doctor was very soft spoken and asked me if Andy was on the Autism spectrum. Now, he has never been diagnosed with autism, but rather with Developmental Delay. However, in the interest of time, I just said yes because it was easier than going into a long detailed explanation of his condition. The doctor checked his ears and looked at the bump on his head and declared him fine. Done.
I guess one positive side to this is Andy is at the age where a diagnosis of diabetes and autism is more understandable than the rare iDEND syndrome that he has. While I don’t mind educating health professionals about his condition, sometimes the simplest explanation is one that is understood so that I can get on with my night. Especially when his condition has no relevance on his current medical need.
When Andy was about 16 months old, we had to take him to an ER because he had a cold and was so stuffed up that he did not drink anything for nearly 24 hours and had become severely dehydrated. Now, at that time, he was still on the insulin pump and we were still under the assumption that he had Type 1 diabetes. The nurses freaked out when they checked his blood sugar and told me it was 315! I was unphased and told them that was great considering he was ill and they had just spent 30 minutes poking him all over to try to get an IV in him. Of course his blood sugar was going to be high! It took some convincing, but after showing the doctor the logs where I kept detailed records on his blood sugar, food intake, and insulin doses, he finally said, “Well, it looks like you guys know what you’re doing. I think you can take better care of him that we could here in the hospital”. I think that ER visit made us gun-shy and we’ve tried so hard to only take him to his regular doctors whenever possible. I guess after nearly 5 years of living with such a rare disease, I’m just getting exhausted with having to explain it with every new doctor I meet. Maybe it’s worth it. Who knows if that one doctor I educate will some day come across a baby who is diabetic and they can tell them of a patient they had once who had a rare type of diabetes and get that baby tested. I will never know, but at least I can say I did what I could to educate them. Well, at least most of the time.
Side Note: I tried to link iDEND to an article but it didn’t work. If you want to know more about this condition, just Google intermediate DEND.