There's a lot going on, I'll try to boil this down:

Medical cause:
The specialists trying to find the cause of Aaron's issues have decided, as we expected, that they want a biopsy of Aaron's muscle and nerve. We will meet the surgeon on Wednesday, and the biopsies will be performed probably by month's end. It will take months to get results.

Sleeping:
I hate to jinx us by saying this, but we may have eased the worsening sleep situation. Aaron's new pediatrician on Friday told us to make three changes: 1) give him Benadryl before bedtime as a sleep aid, 2) get him out of our bed and 3) no bottle feeding after 11pm.

We've done all this Saturday night and last night, with Aaron sleeping on a mattress on the floor of our room surrounded by pillows. He has slept much better both nights, which we attribute mainly to the Benadryl. This helps him greatly during the day, and obviously it gives us more sleep. We hope that this continues.

Eating:
On a less positive note, Aaron's oral motor skills continue to decline. He is substisting mainly on Pediasure, a liquid formula we buy at the drug store. Clarice tries valiantly each day to get him to eat soft solid food, but he is mostly unable/unwilling to chew and swallow.

We will closely monitor his weight as this goes on. But the pediatrician warned us -- if this continues we will have to have what's called a 'plug' inserted in his side so that the Pediasure can be delivered directly to his stomach.

In addition, on Wednesday we see a gastrointestinal specialist at CHOP. Aaron has been on anti-reflux medication for a couple of weeks, without any improvement in eating, and this doctor will look further at that (and probably want tests).

"An Interesting Study"

Aaron underwent an EMG and CT scan on Monday April 10th and yesterday I spoke with the neurologist about the results.

The CT scan was to look for deposits of calcium in the abnormalities in his brain (MRIs don't show this). Fortunately, there were none. Had there been, it would have been simply a clue toward what's causing all this. The absence of this is good.

The EMG, which examines his nerves, found evidence of a "very mild" neuropathy, which as far as I can tell is an umbrella term for nerve problems. "Nothing dramatic" he said.

Overall, he said he found this "an interesting study" and is "not sure what to make" of the whole picture.

The questions as I understand them, include: were the lesions in Aaron's brain caused by metabolic disease? Are the lesions in turn causing nerve damage? Are the lesions worsening? If the lesions were caused by a disease, they could worsen.

The neurologist and the metabolic specialist at CHOP now need to talk, and decide what testing they want next. We hope that conversation happens in the next week. They will most likely want to perform a biopsy of his muscle. They may also want to biopsy some nerve tissue and even skin tissue. The biopsies would all be done at one time by a surgeon, with the tissues taken from his thigh.

Results from the biopsies will, we are told, take perhaps as long as six months. In the meantime, but after the surgery, they may start Aaron on a dietary regimen, a "cocktail" of vitamins, the mitigate the effects of the disease. This will be a long and complicated process as well, because they add items to the mix slowly to guard against adverse reactions. Even when the mix is right, this regimen, we are warned, won't produce drastic improvements, "only subtle" the neurologist said.

Meantime we are struggling with Aaron's continued feeding and sleeping issues. We are meeting later today with a new primary care pediatrician who has agreed to oversee his case. And Clarice is checking out a pre-school near us that could be where we place Aaron in the fall.

Back to CHOP

We had several appointments last week and our heads are still spinning.

On Wednesday Aaron had a spectroscopy, which apparently is a type of MRI that looks at chemical activity. On Friday we met with a neurologist (a new one, who specializes in muscle issues) and he said the spectroscopy results were inconclusive. He said there was one area of the brain that appeared showed high lactate but that could be in error. Otherwise they saw nothing bothersome.

So the good news is that the spectroscopy, unlike the MRI back in December, did not reveal any obvious problems. The bad news is that we seem to be no closer to a diagnosis.

The neurologist wants more tests -- a CAT scan and an EMG. Those, fortunately, don't require sedation. We are scheduling these next. At some point he and the metabolic specialist are going to want to do a muscle biopsy.

In addition to the neurologist, we met with a geneticist who, after asking us a lot of questions, ruled out any problem with her area of specialization -- I forget the name but it would be things like chromosome defects. So that area of inquiry is closed.

In addition to this, we are switching Aaron to a new primary care pediatric practice which is willing to take children with chronic health issues. Two of the doctors there will become our "case managers," so trained MDs are looking at the big picture of Aaron's care -- which we're doing alone right now.

Aaron has regressed in feeding and this causes tremendous difficulty for him and Clarice. We are going to take Aaron to the feeding clinic at CHOP for further help on this. The new pediatricians also want us to take Aaron to the gastro-intestinal clinic at CHOP to see if he has reflux. This will involve a barium swallow, not pleasant for anyone especially a 2 year old.

Finally, also on Friday at CHOP we met with two therapists to discuss whether Aaron is currently receiving sufficient PT, OT and speech therapy. Seperately, we have started the process of planning his school/therapy program for the fall when he turns 3.

I think that about covers everything, but obviously its hard to keep track of it all, and make sense of it all.

Some relief

Last week we met again with the metabolic pediatrician at CHOP. There was good news -- all of the latest blood tests came back normal.

Not only that, they had repeated the blood work done late last year that had shown "elevated serum lactate." And this also came back normal this time... meaning the initial result was wrong (probably due to Aaron screaming at the time).

The only problems were found in some urine samples -- she explained what they showed but I honestly don't remember. What we're left with mainly at this point is that MRI from December that showed abnormalities in the brain -- that's the clearest indicator of a disorder.

Because of the latest results, the specialist is able to rule out at this time some of the more dire, life-threatening metabolic disorders. That obviously is a huge relief. (She of course would not rule out that something serious could develop further on down the road, but for now there are no indications of this).

She believes that Aaron has some problem in the mitochondria, which are basically the power sources within cells. This sort of thing could be treatable through diet -- like vitamins or dietary supplements. Again, this would be to lessen the effects of the disorder; there is no cure.

What's next? Now she wants a test similiar to an MRI called a spectroscopy. This will require sedation. Also, we must make appointments with a geneticist at CHOP and another neurologist at CHOP who specializes in this sort of thing. After this, she may want to start Aaron on dietary supplements; this can't start soon enough as far as we're concerned.

So, months more to go on this. But for now, it seems we have a boy who doesn't burn fuel well, and who probably is developmentally delayed as a result. But at least he appears healthy beyond those delays, and for that we are thankful.

Toward a diagnosis

Aaron's MRI results are unfortunately not good.

The neurologist says the MRI shows two problems. First, as he put it, "abnormalities in the deepest part of the brain." This is the area that controls movement and muscle tone, and Aaron has poor movement and tone. Second, he has too much fluid in some parts of the brain. This can inhibit brain growth.

Two of the blood tests done last month showed "high lactate serum." Those tests need to be repeated to verify, but if correct, they point to some sort of metabolic disorder. The neurologist told us that these MRI results are consistent with metabolic disease.

What does all this mean? First and foremost, it dashes our hope that Aaron's developmental delays are simply delays and not caused by a medical issue. That would have been the best case scenario, but that outcome is now eliminated.

Second, we now need to determine whether in fact Aaron has a metabolic disorder and if so, what. The range of metabolic issues is wide: they can minor, or they can be life-threatening.

So we took Aaron to the metabolism clinic at Children's Hospital. We were there for 3 hours and came away with this:

--We have months of testing ahead of us to determine if Aaron indeed has a metabolism disorder, as the blood work and MRI seem to indicate.

--That testing may lead to a diagnosis, or may not. The metabolism pediatrician said they are unable to diagnose 1/3 of their patients.

--Even with a diagnosis, there are no cures for metabolism disorders, only treatments to mitigate the effects. Whatever he has, he will always have it.

--They are looking at a particular type of metabolism disorder -- related to energy creation, or how his 'engine' burns fuel.

--And the brightest point: the pediatrician, at least for now, is not concerned that he could have the most devastating type if metabolic disorders, those that shorten life spans. She says this because we are not seeing issues with his liver, pancreas or other organs that are often evident by age 2 in children with these disorders. She's not ruling anything out of course, but we can take some relief from this assessment.

We are struggling now with the enormity of this, with this new reality. And we struggle amid all this to find some holiday cheer.

At the Top of the Funnel

"We just don't know."

The pediatrician leaned forward, arms on her knees, shaking her head. I had asked for her assessment of Aaron's delays. I didn't need a longer, more elaborate answer. Nor did she offer one.

"We just don't know."

The pediatrician compared the situation to a funnel. We're at the top, the widest end, with myriad possible causes for his delays. We need to work our way down to the narrowest end, where the possibilities are fewer, more distinct. Then perhaps we'll have an answer or, at the very least, will have ruled out the worst possible outcomes.

We took Aaron this week to Children's Hospital for an MRI. We cried a little as the nurses sedated him. He lay on his back, fighting the sleep, staring at the nurses in confusion.

Later, in the waiting room, a young boy of 8 or 9 sauntered in with his grandmother, seemingly carefree minutes from his next MRI. Nonchalant, as though it were just another chore to take care of. And perhaps for him and his family, it was.

I shudder that we would ever get to the point at which MRIs are routine, at which the intense medical testing into which we have just stepped is as ingrained in our lives as toast and diapers.

We may be there yet, at the bottom of the funnel.

For now, though, we just don't know.

Watching and Waiting

We watch Aaron closely, every moment, and take great pleasure in what seem to be iotas of progress.

Mostly, these moments come when he demonstrates strong comprehension in some way that surprises us.

This morning he was standing, staring at the TV, face near the glass, while he and his sister watched a few minutes of Sesame Street. From the kitchen I called out, "Aaron, please sit down." He backed up three steps and sat down, but never once looked at me.

A few days ago I was holding him on my lap in a field at the Morris Aboretum. I looked at him directly, and did not shift my head nor my eyes. I said one word: "Sky." Instantly his head shot back as he looked upward.

These moments occur regularly. They are our lifeline, our cause for hope. They strengthen our gut belief that there is a smart little boy inside that wobbly, mostly silent body.

Yet his inability to communicate is frustrating for him and us. This morning I took him out of his high chair when I thought he was finished eating breakfast and he started screaming. I was left guessing as to what was wrong; I'm still not sure.

So we watch and we wait. We watch for morsels of progress and wait for greater breakthroughs. We watch for demonstrations of comprehension and wait for him to give voice to his levels of understanding.

I have never found it so hard to be patient.