Friday, April 8, 2011

A Long Road

Last night we took our youngest son in to the late night kid's clinic. We'd been messaging back and forth with the pediatrician about how his vomiting episodes were increasing, along with still just not being able to help him with regularity in the bathroom even with the miralax dose recommended by the specialist. We'd felt frustrated that the GI doctor never seemed to have anything new to offer. And though he wasn't getting dehydrated, or seeming to be in pain or otherwise sick, these problems just were getting to worry us more. We agreed to have a new GI doctor involved to get a fresh look, but he is booked until the end of June. So I wondered what to do in the meantime. The pediatrician just though it a good idea to have him seen to make sure we weren't missing something that could be addressed now.

So we went to the clinic. The first thing the doctor said was, "I had a chance to look at [his] chart." We talked about the increased vomiting episodes, and how we've been dealing with these his whole life, but that suddenly he's been having them with much more frequency. He also is having more difficulty in the bathroom. Tried to sum up the GI road that we've been on with him since he was a newborn in the NICU on TPN. And I thought I did a good job of not going into too much detail and staying focused on the current concerns. But then the doctor asked what we thought he was going to be able to do. That he wasn't going to be able to find an answer for us. I was surprised. I didn't even think at all that we were going to get THE answer in this quick visit to the clinic.

After the belly scan that used the same word as the one he had when he was hospitalized a few years ago - ileus - he said we were doing what he thought needed to be done, and continue down the road to the GI doctor we're scheduled to see in June.

It made me think about how long we've been on this journey of trying to figure things out. My oldest was a year old, with a "cold" that never would go away. We were in the pediatrician's office while he pulled viscous ropes of mucus from her nose, the length and diameter of a pencil. I remember the panic in his voice as he said, "have we talked about cystic fibrosis before?" It was the first time I'd heard the term. She was not really small, on the charts at about 25th-percentile. But this unusual discharge I guess had him worried. We did the sweat-chloride test, with the resulting negative. She had her adenoids out, and then things were fine. Other than some sensory concerns, and diminished social interactions with other peers her age, we didn't really have any worries about her health.

Our second child, though, was constantly ill. He struggled with reflux, sensory issues, feeding issues, recurring illnesses, failure to thrive, speech delay, coordination problems... We were always trying to figure things out with him. Eventually we found this or that to explain that or this... but there was never a clear picture. We just figured it was his set of quirks to deal with in life. I still remember when I'd take him in for his same-day surgeries, looking around seeing kids who were obviously so much more sick than he was, thinking how grateful I was that his "quirks" weren't life-threatening.

Our third child had to be resuscitated after being born via emergency c-sec. Proplapsed cord, with no trace on the monitor, no pulse in the cord. Five weeks early, she only had to be under the oxygen hood for about half an hour, and she seemed fine. She nursed well. Her sugars were a little off, and she had a little trouble keeping her temperature, but that was all just her prematurity. The bilirubin issue she had we had with the other two, and was also expected with prematurity. But then she struggled to grow, had recurring infections, reached milestones late, had lethargy.... a couple of times the doctor was wondering if some of what we described wasn't seizures. The EKG did suggest some concerns, but then said overall was a normal result. But again, it was a lot of "quirks" and we could be greatful it wasn't anything severe.

Then our fourth child was born. Dominic was only three weeks early. He needed to be suctioned after he was born, but then he seemed okay. He did well with nursing, but would tire easily. He was a very good baby. He also had the bilirubin issue, with the ensuing light therapy. We were concerned when he wasn't growing well, and he also was very tired. Newborns sleep a lot, though. When he started having orange spots in his diaper, I became more concerned. He would go six days without pooping, although he was breastfed. He wasn't growing. We wondered if he just wasn't getting enough milk, but when we gave him prune juice, he exploded, literally covered from head to toe and everything around him covered. It was all in there just backing up. But the doctor was happy he was making progress, even though slow. He was not reaching milestones on time, but still "within the range of normal, just on the slower end of normal." He wasn't holding his head up, couldn't roll over, was sleepy, lethargic, floppy. He hardly cried. He was a pretty happy baby, though. Then he started breathing in a way that worried me. It just didn't seem right. A nurse with the early intervention program came out to work with him, and she agreed it looked different, but thought it might just be his anatomy. She gave me a fancy medical term for it and told me to ask the doctor about it when I saw them next. I took him in when he was throwing up. It didn't just seem like typical reflux. I pointed out the breathing issue, and was told it wasn't what the nurse said it was, but it was probably just because he had a virus, and we should give him tylenol and he'd be fine. It was a Sunday, so it was the on-call doctor, and he instructed us to follow-up with our pediatrician the following-day (Monday)- and I did. Dominic was doing a lot better that day. I took him back on Thursday for a weight-check and they thought he was doing great. That afternoon, I remember thinking he'd stopped breathing. Then I convinced myself I was imagining it because when I kept checking, I finally saw him take a breath. On Saturday morning, he had his crisis event, and died 6 days later.

Why did he die? I was first introduced to Mitochondrial Disease when Dominic was flown to the PICU. They thought because his 3-methylglutaconic acid level was so elevated, that his history prior was consistent, and another few things that it all added up to Barth's Syndrome. Since our oldest boy was also hypotonic and suffered from so many interesting but not fully explained medical things, there was even question if he could be sick. We tested his 3-methylglutaconic acid levels, with the resulting normal levels. And during the muscle biopsy on Dominic, the abnormal appearance reminded the neurologist of only one other time she'd seen muscle that looked like that -in a case of infant botulism. Suddenly, the answer wasn't a mitochondrial disease, but botulism. So that is what is written on his death certificate.

We traveled the road with another child who struggled to grow, severe reflux, breathing issues, hypotonia.... Then our youngest son, who was in the NICU having all sorts of difficulties, and even when we brought him home, never really fully kept up and threw all sorts of curve balls... the same son we just took in again last night for the recurring vomiting. Then Bridget was born, five weeks early. Same failure to thrive, but she had the most difficulty with feeding of all of our kids. She was fine and had a great suck for the first four days, but crashed after intensive light therapy for jaundice - for over 24hrs without an IV and only getting the milk a mother produces at 3-4 days postpartem. So she got dehydrated, and crashed, and from that point on she never was strong enough to really nurse well, or even fully take a bottle. We struggled with that until she also had the same crisis event Dominic had, she was flown to the PICU, and died.

They decided then that Dominic had died from an underlying genetic disorder, likely a metabolic or mitochondrial disease. He had died with botulism, but not from it. And Bridget had died from the same underlying condition. But did any of our other kids have the same underlying condition? When Bridget's autopsy suggested Leigh Syndrome or Leigh-like syndrome, I started to learn more about mitochondrial disease. Our youngest son had an MRI and MRS to rule out Leigh Syndrome (normal results, with no lactate). And we had one more child, who has had so many difficulties in her life, also. But there is still no answers to give a clear explanation for everything.

I don't know why the doctor noting that he wasn't going to be able to give us an answer to what was causing our son's vomiting episodes bothered me. I was surprised he thought we might actually expect that from him. But I also think it was just finally having anyone from the medical community put it bluntly - I am not going to be able to give you answers.

It has been just over nine and a half years since we were in the PICU with Dominic, contemplating for the first time that our family might be affected with Mitochondrial Disease. I sometimes get very angry about the 9/11 attacks that grounded the fed ex planes with all of my family's samples that were being sent to be studied. Because I wonder if maybe something would have been identified. I still remember how my sister's birthmark, a port-wine stain over 95% or her body, made the neurologist think of another family who had an individual with the same condition, and that family had been diagnosed with Barth's Syndrome. Though it wouldn't explain Bridget's death, so I don't think Barth's Syndrome is the correct diagnosis, it does make me wonder if there is a connection.

We're still on this road. I'm running out of gas, though. In some ways, I feel like I did in the hospital when my son would have his same-day surgeries - looking around seeing kids who were obviously so much more sick than my kids are, thinking how grateful I am that the "quirks" aren't life-threatening... but Dominic and Bridget died, even though they never seemed "that sick." So I can't trust it is just a lot of "quirks." And though I wouldn't want my kids to be more sick, it's frustrating knowing that the doctors don't think it's too important to rush to find an answer because they have other kids to help who are much more sick. It makes me wonder, if in nine and a half years trying to figure it out, and two dead children, and multiple hospitalizations, testing, illnesses.... will we ever get to the end of this road? I hope there are no more surprises in the journey. That I can be grateful, that though I grieve for my two little ones, that the other six are still here and they aren't dealing with life-threatening illnesses and just have some quirks. But there is something with my kids, that though they are not that sick, they aren't that well, either. It makes me nervous. It makes me angry, because like the doctor said last night - I can't give you an answer.

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