The Results of the MRI and the Neurologist Visit

I returned home today from doing a 48-hour study with Ryan. Immediately following Ryan's neurologist appointment on Friday, Ryan and I checked into a beautiful Marriott suite. I spent 2 days tracking when and how much Ryan eats, sleeps, pees and poops. Because Ryan eats, pees and poops very little, and sleeps a lot, I spent a lot of time watching meaningless television shows that I'd never watch at home, knitting, and sleeping. It was very relaxing!

Dwight stocked the room's full kitchen with healthy food and some fun snacks, and a dear friend brought me a delicious dinner and super yummy treats on Saturday evening. So, I had wonderful food and lots of sleep. What more could a mom ask for? :) (Thank you, Sweetheart for taking such good care of Ryan and I.)

So, on to what you probably really want to read about....

We went to the neurologist appointment on Friday. We only had to wait for 3 hours. Yippee! So, here's the gist of it... There were differences between Ryan's 4-month MRI and this 15-month MRI. There are some abnormalities related to the white matter and probably some lesions. You might remember that there were some delayed mylenation issues on the first MRI. There has been additional mylenation since the first MRI. That's a good thing. Because of the additional mylenation, they were able to tell that there are some lesions on the brain. This isn't completely surprising to us since we had heard they suspected this in the NICU.

The basal ganglia looks fine. (This is really good news since it is the most sensitive area for mitochondria disorders and mitochondria disorders are not good news.)

The radiologist and neurologist feel the results of the MRI are consistent with inborn errors of metabolism; however, it is not a classic example of inborn errors of metabolism. Thus, it is not a definitive diagnosis. We might be able to get more information by doing a muscle biopsy and a spinal fluid analysis. However, these are both extremely invasive and they aren't really medically warranted. I chose not to do either of the tests, at least not right now.

So, we'll wait another 6 months to a year and then do another MRI. We'll again compare the MRI's and see what we learn. Hopefully, it won't take 3 weeks to get the information.

In 2 weeks, we are going to also do a thyroid and iron study, which will be done with a blood test. Additionally, we're going to do an EEG on Friday.


On other topics, while I was with Dr. Seals, we discussed Ryan's seizures and his feeding issues. Since Ryan started the Lamictal, the Myoclonic Jerks have significantly decreased. (Remember when he was doing 60-70 in 20 minutes? He's now down to about 2-5 per day.) So, we're going to decrease the Keppra and the Lamictal to see if we can do less medicines and still keep the seizures away.

I also reported that Ryan is eating less than 20 ounces of formula each day and sleeping somewhere around 20 hours. This has been going on for about 3 weeks. He had been eating around 45-55 ounces each day. Well, in tracking his eating this weekend, I've learned that he's actually eating about 13-14 ounces each day. I was told that he needs a minimum of 800 calories per day. He's only getting 390-420 calories. So, we are going to move quickly on getting a g-tube in place. Dr. Seals also recommended doing a nissen wrap to help with the GERD issues. I'm not thrilled about doing the surgery, but I think it is nessary at this point.

So this will be another busy week ... another biopsy for me, an ophthalmology appointment for Ryan, an appointment with the oncologist and the rheumatologist for me, an EEG for Ryan, and an appointment with the pediatric surgeon. On the bright side ... this week should go by fast. :)

Please keep us in your prayers. I know my strength comes from all of the prayers. Thank you!