We have an ultrasound today and will be talking to Dr. B about delivery options. Please keep us in your prayers and please pray that we can get a good picture of her head. I need to know if Brielle’s brain is showing signs of deterioration. I’m having a very hard day, this may be the last or one of the last scans we have of Brielle.
I was playing Brielle’s playlist last night and just hanging out on the couch (I do a lot of that these days). Take It on the Run by REO Speedwagon came on and Brielle went crazy with excitement. She started dancing with her whole body! I was kicked and punched in every direction. I had a good laugh and asked her if she was excited for some REO. She’s such a sweet happy girl.
If you work at a hospital or are a medical professional, please read this post.
Since Brielle’s diagnosis I’ve been working on how to care for anencephalic infants. From the recommendation of a neuroscientist friend, I bought “Fundamental Neuroscience” and “Atlas of Neuroscience.” I’ve spent weeks reading publications on PubMed, studying the brain, amniotic fluid, head trauma, anencephaly, how anencephaly occurs, etc. I find this all very fascinating and incredibly surprising how little is known about anencephaly. Quite frankly, nothing is known.
If you’ve been following my posts, you know that a few weeks ago a baby was given horrific care by a hospital in Tennessee. Why? Pure ignorance on how to care for an anencephalic neonate. So number one on my list was to establish a basic set of protocols for hospitals and practices to follow in regards to basic maternal and fetal/neonatal care. Number two, determine a way to to treat anencephalic infants with strong vital signs. Number three, find a way to treat anencephalic babies in utero and save their lives. Did I do this for Brielle’s sake? Absolutely, but I also did it for every other family in this situation.
Anencephaly is the most common neural tube defect, but 95% of the cases are aborted. That leaves only around 50-60 babies born a year in the United States. Very few physicians will see no more than a handful of cases in their career go to term. I think a big part of why there are so many abortions, is because parents are told their baby has no brain and is “incompatible with life,” they are presented with a situation that has no hope. This is something that needs to change, because these babies do have brains, and some of them do survive. For instance, the seventeen year old girl currently living with anencephaly. There is always hope.
I’m not sure if this is the right course of action. And this is definitely a more difficult plan, but we need to start somewhere. I propose we start here:
Fetal Procedures:
– MRI before 34 weeks for clear picture of brain matter before Tissue Factor is introduced in Amniotic Fluid at 34 weeks. (TGF is a suspected component of amniotic fluid that deteriorates brain matter after 34 weeks. By having MRI’s we can begin to see how fluid affects anencephalic brains and potentially when to deliver the baby for best possible outcomes.)
– MRI after 34 weeks to check on brain.
– Check for extracerebral hemorrhages and intracerebral hemorrhages via ultrasound or MRI. (This will better prepare the medical team at the time of delivery.)
– Colour doppler imaging to be done to monitor for AVM (arteriovenous malformation).
– Check for AVM, look to vein of Galen and frontal region of brain for AVM occurrence. This will be difficult in an anencephalic brain since their brains are organized differently.
– Continuous assessment of cardiac failure or hydrocephalus is required to monitor for AVM.
– Fetal behavior documented by mother. This needs to be known to better detect brain bleeds at time of birth.
Neonate Procedures:
– Vaginal birth increases risk of head trauma. Induction increases risk of head trauma.
– Delay cord clamping to reduce risk of brain bleeds. Specifically Intraventricular hemorrhage (most probable cause of death).
– Use of artificial dura and sterile gauze to cover brain. Dressing must be kept wet and baby must be kept warm.
– Monitor for signs of brain bleeds (could be six to eight hours before first signs present themselves):
– Fixed and dilated pupil. Eye will be positioned down and out on side of injury.
– Weakness of the extremities. Will be on the opposite side of the lesion.
– Loss of visual field. Will be on the opposite side of the lesion.
– Irregular respiration (apnea)
– Vomiting
– Confusion/lowered level of consciousness
– Seizures (especially if not seen in utero)
– Neck stiffness
– ECG/EKG (if showing other signs): Hypertension, Bradycardia, Cardiac arrhythmias, Cardiac arrest, Other changes
– Decreased muscle tone
– Lethargy
– Weak suck
– Excessive sleep
– Decreased reflexes
– Oxygen levels should be monitored
– BP should be monitored
– MRI to check for brain bleeds
– Regular state and federal required testing (this is important because this is currently not done for anencephalic infants)
Be aware that use of ECMO can cause intra axial brain bleed.
Maternal Procedures:
– Monitor for polyhydramnios during pregnancy.
– Monitor for amniotic fluid embolism during and after delivery. As well as during pregnancy.
– Increased risk for AF embolism with an anencephalic baby and polyhydramnios. This is due to neural debris in amniotic fluid.
– If the mother had polyhydramnios, monitor for postpartum hemorrhage.
David and I had genetic testing done with 23andMe (which I highly recommend since it’s the most affordable option). Our results revealed why Brielle has anencephaly. David and I both have a genetic mutation called MTHFR. I have one copy of the C677T gene and one copy of the A1298C gene. David has two copies of the C677T gene. I’ll go into how this caused Brielle’s anencephaly, but first I want to talk about the part that is applicable to everyone else.
Everyone who reads this should note, nearly half of the population has one copy the C677T gene and/or one copy of the A1298C gene. So you have a 50/50 chance of having this gene, which means no one is exempt from this. David’s gene is rare, he is homozygous, meaning he has two copies, one from each parent. Having two copies only occurs in about 8-11% of the population.
Now what does this gene do? Obviously, it plays a role in neural tube defects. I’ve attached a picture that lists some of the conditions caused by this gene. But how does it work to basically mess up everything in our bodies?
The MTHFR gene metabolizes folic acid. Folic acid is a B vitamin an essential building block. David’s gene has a 10-20% efficiency in processing folic acid, my copy (the most common) has a 60% efficiency in processing folic acid. A1298C has not been as widely studied as C677T, so I’m not sure what it is or isn’t processing. Folic acid cannot be properly metabolized, so what does that cause? Here’s an excerpt from NIH:
“MTHFR gene mutation is a genetic change that disrupts the production of an enzyme that plays an important role in breaking down the amino acid homocysteine (a building block of protein). These mutations may cause a mild to severe loss of activity of this enzyme that can lead to elevated levels of homocysteine in the blood and/or urine.”
Having too much homocysteine in the body begins to damage the body and that damage leads to Alzheimer’s, cardiovascular disease, neural tube defects, hypertension, diabetes, autism, depression, schizophrenia, cancer, down syndrome, infertility, miscarriage, etc. The body can’t rid itself of the elevated homocysteine levels, because the gene that regulates that part is mutated or even broken.
Combine David’s gene and my genes and we have a really high chance for having children with neural tube defects. And this is the frustrating part. Most doctors and geneticists do not know much about this mutation. They might even tell you it’s nothing to worry about. It totally is. If they tell you that, ignore them and find a better doctor or provide that physician with information about this gene. Especially if you are of childbearing age. There are a lot of “doctors” claiming they can help with this mutation online, but most of them are using the situation to make a profit. So how in the world do you treat this mutation if no one knows anything about it? Well, I’m still answering that question myself. But here is what I do know.
Folic acid is in just about everything. The FDA requires that it be added to processed foods to prevent neural tube defects. But if you have an MTHFR mutation, you need to avoid folic acid. So you have to avoid processed foods, like bread, cereal, oatmeal, etc. Birth control is to be avoided as well. Folic acid is everywhere. It’s also in nearly all multivitamins, you can’t have those multivitamins anymore. Especially if you are trying to conceive. It is a serious headache, how do you avoid something that is everywhere?
But you still need folic acid, or rather folate. Folic acid is the synthetic form of folate. Folate is the organic form found in nature. You can take a supplement of methylfolate and that will process the remaining folic acid and lower the homocysteine levels in the body. But I don’t know the proper dose, and I’ve heard warnings that you want to start out with low doses to lower the stress of this process on the body. After Brielle is born, I’ll be speaking with a geneticist about all of this and will hopefully learn more.
Side note: I took 1,000 mcg of folic acid daily during my pregnancy (400 mcg is the recommended level). My blood work always revealed that I had great folic acid levels. Well now I know that of course I did, I wasn’t metabolizing it, it’s just hanging out in my body. So if you have this gene, you may think you’re doing great because your levels are great. In this case, medicine has yet to catch up with genetic research.
If you are trying to conceive, I would have both the mother and father tested. I don’t want anyone else to go through what David and I are going through. And this is something you can at least be prepared for. And I’d caution internet research, there is a lot of misinformation online about MTHFR.
We had an appointment on Friday and it was uneventful really. It was just a midwife appointment. My vitals and Brielle’s vitals all look great, Brielle is just as active as ever and we’re just waiting for Brielle to arrive. I did find it hilarious to note, I measure at 52 weeks. Which is a year, so I appear to be a year pregnant. A woman asked me the other day how many babies I was expecting. One, just one.
lovingbrielle.com 