What Does This Mean for Baby #2?

Family Pic at Ethan's 2nd
Birthday party

It means a whole lot more than we thought it did. For this blog post I'll just set it up like an FAQs page:

1. Are you pregnant yet?

Ha! No. We are gearing up to start trying again for sure. We have loved being parents - and we have adored being Ethan's parents so we definitely want to have one more. But no, I am not pregnant yet.

2. What are the chances that your next child will have Joubert Syndrome?

Our next child has a 1 in 4 chance of having Joubert Syndrome. It breaks like down like this:

• 25% chance of having an active case of Joubert (like Ethan)
• 50% chance of having an inactive case (like Terry and I who are only carriers)
• 25% chance of having no Joubert Syndrome at all. 

It's funny how the wording of it makes it sound hopeful or dooming: a 1 in 4 chance of next child having Joubert, or a 75% chance of our next child being perfectly fine. We've done a lot of research and honestly it seems to me that most families who have one child with Joubert have multiple children with Joubert, which is disheartening.

3. Are there ways to minimize those percentages?

Yes -  there are several options.

• We can do what's called a "Pre-Implantation Genetic Diagnosis". Essentially it’s in vitro fertilization (IVF) but they test the Embryos for specific genetic mutations prior to implanting them back into the mother. Yes, we are looking into this but it is very costly and we haven't yet identified which of the genes that causes Joubert is mutated, so I am not sure we are even able to do this.
• Sperm Donor - Using an anonymous sperm donor can greatly reduce the risk of Joubert Syndrome. We have thought about this, but honestly this will be a last resort. We want a whole brother for Ethan. We want a complete child of ours.
• Adoption - Some parents choose to adopt if they feel they run a higher than likely chance of having a child with a severe case. 

4. Ethan is doing so well - would it be so bad if you had another child like him?

Ethan's School Photo

Heck no! Obviously we are crazy about Ethan! But do we want to our second child to have Joubert? Definitely not.

Here is what we sadly learned - the severity of one child has little bearing on the severity of any future child diagnosed with Joubert. It's completely dependent on how badly that part of the brain is malformed. We read stories where a family had one child without Joubert, one with just a mild case of Joubert like Ethan, and one with a severe case who died before he turned 3.Yikes...

So, we cannot just use Ethan as our baseline for what Joubert may be for us. His case is uniquely his own.

5. Can you tell if a baby will have Joubert before they are born?

Yes. You can. There are several ways along the way to know if your child is at high risk of having, or in fact does have Joubert in utero.

A. Amniocentesis
15 - 21 weeks gestation
This tests known mutations and Analysis of fetal skin cells
>.5% rate of miscarriage

B. Chorionic Villus Sampling (CVS)
10 - 12 weeks gestation
This can test all of the chromosomal abnormalities and hundreds of genetic disorders
1% rate of miscarriage
The main advantage to this over an Amniocentesis is that you can complete it sooner and it's more accurate, however, there is a higher rate of having a miscarriage

C. Ultrasound
18-22 weeks
This tests for extra fluid in the brain, Kidney cysts, noted brain differences
Note: Ethan was noted as having fluid in his brain which was reported as the high end of normal. It didn't seem to alert anyone too terribly much at the time. Now we know what to look for.

D. Fetal MRI
20 - 22 weeks
This where they detect the definitive Molar Tooth Sign. However, this is obviously very far along. Lots of potentially painful decisions.

6. So what are you and Terry going to do?

Ethan posing with his paper guitar

What you do with this information is pretty tough and definitely personal. I will certainly NOT be blogging my way through this one.

So what are we doing? We're throwing it out to the universe. We know we want one more. We're not sure there's a lot we can do to control the outcomes. So, we're putting our faith in the unknown. If we're not successful we will certainly weigh our options, adoption, sperm donor, et al. But we remain ever hopeful that whatever the Universe has in store for us will be a blessing - just as Ethan is. Wish us luck!

Next Blog Post - Final Post! Where we go from here!