Neonatal Adrenoleukodystrophy?

I don’t even know where to begin. There has been so much happen lately and I’ve intended to post an update, but it’s all so overwhelming for me right now and some days, just getting out of bed is about all I can muster. I’ll tell you what we know at this point, in bullets, because it’s easier for me this way. Sorry... some of this info may be redundant.

• EEG was normal.
• MRI showed abnormalities in the white matter of Jesse’s brain. White matter is on the interior of the brain and contains most of our neurons that are coated in myelin sheaths. The myelin appears whitish in color, making those regions of the brain also appear whitish, hence the name ‘white matter.’
• Abnormalities are in the occipital and frontal regions of his brain. Occipital area controls vision while the frontal area primarily controls higher cognitive functions and movement. Initially, the doctor said the abnormalities are considered static (unchanging, not progressing) and gave a diagnosis of Static Leukoencephalopathy due to Non-Specific In-Utero Insult. Basically, that means that something happened during his development that caused a disorder of the brain’s white matter. As long as the affected areas remain static and don’t progress, we’d be okay and we’d do another MRI when he is two years old to look for any changes.
• Initial bloodwork which consisted of standard lab tests – CBC, chem panel, lead, amino acids, thyroid, creatinine kinase, etc. all came back normal which allowed us to rule out several possible disorders.
• This type of abnormality is usually caused by one of three things – premature birth, a viral infection, or metabolic conditions. Since the basic bloodwork was fine and he wasn’t born prematurely, we’re moving on to the metabolic disorders and trying to rule those out.
• We’re waiting for results of additional labwork that is testing Jesse’s copper transport system, lysosomal enzymes, and peroxisome function. Because these tests are genetically-based, the results take about 2-3 weeks to come in. So… now, we’re just waiting and worrying.
  
  
• Our copper transport system ensures that our body has the appropriate levels of copper in the appropriate places… too much or too little affects us in bad ways.
• We need lysosomal enzymes to break down the waste products in some of our cells. If they don’t function properly, our cells fill up with waste products and can’t get rid of the junk.
• Peroxisomes are also used to help get rid of waste products in our cells. Specifically, their major function is to break down fatty acids, long chain fatty acids, and very long chain fatty acids (yes, those are the actual names). Again, if our peroxisomes don’t work right, we run into trouble.
  

• On the lab paperwork that I saw on Monday, the doctor indicated that his suspected diagnosis is a disorder called Neonatal Adrenoleukodystrophy. The blood tests will confirm if his suspicions are correct. If the bloodwork comes back okay, we’ll move on to the next possibility. There is a lot of info out there about adrenoleukodystrophy… but, what you have to look for is the neonatal form of the disorder, as there are variants that we’re not worried about such as X-linked, adult-onset, etc.
• Adrenoleukodystrophy is terrifying to me – there is no cure, very little can be done, and most children die in infancy or early childhood. This is the “technical info” I have on this disorder:

• Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. People with ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex because they do not produce the enzyme that breaks down these fatty acids in the normal manner. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of ALD.
  
• The abnormal genes that cause neonatal ALD are not specific to the X-chromosome (like X-linked ALD), which means that both male and female babies can be affected. Symptoms include mental retardation, facial abnormalities, seizures, retinal degeneration, weak muscle tone, enlarged liver, and adrenal dysfunction. This form usually progresses rapidly.
• Bone marrow transplants can provide long-term benefit to boys who have early evidence of X-ALD, but the procedure carries risk of mortality and morbidity and is not recommended for those whose symptoms are already severe or who have the adult-onset or neonatal forms. Oral administration of docosahexanoic acid (DHA) may help infants and children with neonatal ALD.
• Prognosis for patients with ALD is generally poor due to progressive neurological deterioration. Death usually occurs within 1 to 10 years after the onset of symptoms.
• Some of the symptoms for the neonatal form of the disorder that we’ve seen in Jess include floppy presentation as an infant, delayed development (especially motor), seizures, some facial abnormalities, weak muscle tone, low muscle tone, intermittent vomiting, and the white matter abnormalities on his MRI. There are other symptoms he hasn’t shown.

We have another 1-2 weeks before the results for the blood tests are in and I’m sure you can imagine how difficult this waiting period is. I’m trying to stay positive but am simply overwhelmed with terror and sadness and worry and emotion. I feel so alone… Dave is supportive, but he’s not grieving at this point and I am. This is a good thing really, as we have always complemented one another. When he's down, I'm up... when I'm down, he's up. Right now, he absolutely is my rock and I am incredibly thankful for his strength.

Please don’t tell me not to grieve yet… it is how I’m dealing with this information. If the diagnosis turns out to be good, I will be overjoyed… if the news is bad, well, then I’ll face it all over again. But, for right now, I have to work through all these emotions in my own way and in my own time. I’m terrified Jesse is going to die. I feel like others will think I’m overreacting and being melodramatic, but I’m simply doing the best I can do for right now. It’s incredibly hard.

Anyway, that’s the latest and greatest news about our currently-shitty lives. There are a lot of good things, too, don’t get me wrong… I guess it’s just harder to focus on the positives right now, that’s all.

We're having a birthday party for Zach tomorrow evening -- he turns 3 years old on Monday! It will be good to smile again and enjoy the laughter of our children. I have a big stack of presents to wrap yet tonight, so I'm signing off for now. As I learn more, I'll post another update.