AFP Test / Genetic Counseling / Amniocentesis

For most parents, the first indicator that something may be unusual with their pregnancy is found through an alphfetoprotein (AFP) Test.

About.com has an excellent explanation of the AFP test.

Once an AFP test comes back abnormal, mothers are usually given a more advanced ultrasound that will attempt to look for visible irregularities in the development of the child.

Physical irregularities seen through an ultrasound are usually the first confirmation that a child may have Spina Bifida or other complications.

1) The AFP test indicates that something may be wrong.

2) Irregularities seen in an ultrasound indicate that something is structurally wrong. in other words, there are physical abnormalities that can be seen.

Usually, at this point, the mother is referred to a genetic counselor. The genetic counselor is usually a third party independent of any of the doctors you have seen. While a GC is not a doctor, they have been trained to explain the AFP and ultrasound results to you in plain, simple and unbiased language. Your GC should be able to explain what the AFP and ultrasound results mean and what they don't mean. Your GC will help you to decide whether or not you would like to have an amniocentesis done.

Wikipedia has a good article on Amniocentesis.

While an ultrasound can help to determine if there are physical irregularities that can be seen, an ultrasound and AFP test do not determine conclusively if there are genetic / chromosomal abnormalities such as downs syndrome.

While an amniocentesis will give you more information, it is not without it's risks either. Your GC should be able to help you weigh the pros and cons of an amnio given your unique set of circumstances.

Pregnancy Links

I Just Found Out That My Baby Has Spina Bifida

AFP Test / Genetic Counseling / Amniocentesis

How Will This Change My Pregnancy?

For detailed medical information regarding Spina Bifida and related conditions, please visit our Medical / Informational Resources page

How Will This Change My Pregnancy?

Aside from all the stress you may be feeling, your actual pregnancy won't change all that much. There is nothing that you will need to do differently in terms of what you eat, where you go or what you do.

What will (or should) change is the level of medical care you receive. Your OB/GYN should refer you to a Perinatologist. A Perinatologist specializes in high-risk pregnancies. They have much more experience in dealing with cases of Spina Bifida than your average OB. They should have access to more advanced equipment and will know what to look for.

More than anything else, the Perinatologist will use higher-tech ultrasounds (and take more of them) to watch your baby's development every step of the way. Your Peri. will keep you informed of how things appear to be progressing and may put you in touch with Neurologist as your due date approaches.

Keep in mind that thoughout this process, the Peri and Neuro can only give you best guesses in terms of your child's condition. Many SB parents will tell you that their well-meaning doctors gave them worst-case scenarios that didn't turn out to be accurate. Most SB parents will tell you that their child's condition was not as severe as their doctors predicted.

Your doctor will want to schedule a C-section approximately 7-10 days before your actual due date (children with SB are almost never delivered vaginally).

So aside from seeing a specialist, getting more ultrasounds and having a C-section, your pregnancy is (hard to believe) not that much different from anyone elses.

There is one study that you may look into called M.O.M.S. (Management of Myelomeningocele Study).

MOMS is a study currently underway to determine if fetal surgery for children with SB is an effective treatment.

50% of the women admitted to the study will have fetal surgery done during their pregnancy and 50% will not (chosen randomly). You may want to look into the program to see if it is something that you would like to participate in.

I Just Found Out That My Baby Has Spina Bifida

First off, I would like to offer you a bittersweet "Welcome to the Club". It's not a club you ever wanted to join but here you are.

No words I can say here can encompass all the emotions you are feeling right now. I know. I have been there.

Right now you probably have more questions than answers and more fear than certainty (vague and evasive answers from doctors don't help much in that regard).

Like any parent, you want answers and you want them NOW. What happened? How bad is it? What will the future look like? Are just some of the of the questions that may be driving you to the brink. Our goal here, as parents who have been down this road before you, is to give you as many answers and as much information as possible in a simple, easy-to-use format.

Information. Clear. Concise. Now.

But before we get into all the medical details let me just say, you are not alone.

It is estimated that 1 in every 1429 children born in the United States each year is born with SB.

With an estimated 4.4 million births in 2008, that means that an estimated 3048 children were born with SB in the United States last year alone. That's over 6000 moms and dads who faced exactly what you are facing - and some of them want to help.

The links in the margin are the easiest way to navigate and access the various resources offered here.

If you don't see the information you are looking for, e-mail us! Chances are we have the info but just haven't gotten around to posting it yet.

In addition to medical information, it is probably a good idea for you to seek out a group of parents who you can go to for support. Our Support Resources page lists various ways to connect with people just down the street or around the world.

Mom, dad, you can do this. Take it from me, father of little Annabelle Lucille Linden, born 8/7/8 with T5-level SB, Hydrocephalus and two clubbed feet.

It's hard, to be sure. And there may be dark days ahead . . . but it is worth it . . . it is all so very worth it.

Trust me.

WELCOME TO HOLLAND
by Emily Perl Kingsley.

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.