Overwhelmed & informed after genetic counseling

“Being defeated is often a temporary condition. Giving up is what makes it permanent.” —Marilyn vos Savant

This morning we visited with the genetic counselor at Winnie Palmer hospital. It was both a very informative and overwhelming experience. Though we’ve begun learning so much more about Spina Bifida I haven’t really been educated as clearly through anything I’ve read or online than what I learned today in the meeting with the genetic counselor. He did an amazing job of explaining how it was caused and the issues that come with it. Through the meeting we were not only better informed, we discussed our genetic history and other physical/medical factors and we were provided many resources and outlets that leave us realizing what a long journey this will be ahead of us.

Because we still are waiting on final results from the amnio we really can’t jump to fast to begin taking steps, beyond continuing to educate ourselves. At this point we are still very uncertain if other conditions or issues may be present which hopefully this coming week they can all be ruled out so we can just focus on the Spina Bifida risks we already know we are faced with. The counselor informed us of so many things that I’ll try to share briefly in an attempt to help you all see the big picture of what we’re up against.

  • 2-3% of all babies are born with some type of defect or condition such as spina bifida, down syndrome, trisomy 18, or heart defects.
  • 2-3 out of every 1,000 babies are born with Spina Bifida. The counselor told us the chances are low for this to occur for most couple and that when it happens the easiest way to think of the odds is that it’s like winning the lottery you never wanted to win. Yes, with my odds I probably should start playing the real lottery, right!?
  • We asked about the financial costs after reading the Spina Bifida association web site that had outdated numbers. The counselor said the numbers are more likely that the average lifetime costs for a patient are 1.2 million or higher. Did your heart stop hearing that too? I don’t know if we’ve even made that in our lifetime. Thankfully we do have insurance which hopefully will help but we all know how wonderful (okay not so wonderful) many health insurances have gotten in recent years.
  • The genetic counselor said the location of the opening on the spine is in the “best” possible location. In other words, this really really sucks that we have to go through this but it could be worse. The opening of the spine in the lower region leaves more potential for the baby to have the ability to walk and use it’s lower extremities, though likely with lots of help, physical therapy and possibly even with the aid of assistive devices such as walkers or braces.
  • It’s common for Spina Bifida patients to have bladder and bowel issues. The most that I know is that this poses problems and the baby will likely see a urologist too. I asked what are the chances the baby would not have any of these issues, because to be honest…it’s one of the things I pray isn’t going to happen and the counselor claimed almost all Spina Bifida patients have this problem because of how it affects that region.
  • 80-90% of babies with Spina Bifida end up with hydrocephalus which is essentially fluid or water on the brain. It’s usually caused due to the pressure built up from the issues with the spinal cord not closing fully. The only treatment is the surgical placement of a shunt, essentially a device that helps drain the fluid from the brain. Many children deal with this their whole life and must have this monitored.
  • I lost track of the long list of numbers and information of other organizations and specialists that will be there to help…ranging from the NICU at Winnie Palmer to the Spina Bifida Clinic at Arnold Palmer that will likely be the place the baby is seen as it grows older – they have a series of specialists ranging from neurologists to urologists all in one place and rather than having to make 5 or 6 separate appointments it will be more convenient to make one and be able to see all the specialists all in one visit. We were informed of many others to contact before the baby is born to be able to be better prepared. We left very overwhelmed.

We have a lot of big decisions ahead of us. As we await the amnio results we have discussed and though we haven’t made any official decisions, we do still feel that if God is going to send this baby even more challenges than Spina Bifida that make the outlook of life to bleak for it to live a life without major serious support that it may be best to terminate the pregnancy. I am typically against abortion but if the odds are that serious that the child has absolutely nothing to look forward to it has crossed our minds that may be the easiest and best decision. But honestly, we hold onto hope that the amnio gives us more certainty that we are more likely dealing with just Spina Bifida and hopefully the months ahead will help us feel as though we’re dealing with a less severe case. We do know what the doctors see thus far is not the worst possible case so we do have so much hope still.

We’re also learning of the options we have ahead of us with how we handle the treatment of the baby’s Spina Bifida. The most common treatment is having the baby undergo surgery in the first day or so after birth to close the open spine. This helps protect the spine and prevent infection from happening which apparently can be life threatening. Another treatment that has been done in only a small number of cases is surgery in utero. Yes, that means surgery to fix the open spine while I am still pregnant. If the thought scares you, trust me, it frightens me. Initially when I heard that this was an option I thought…there’s no way I could go through that. But as I learn of all the issues and options I am learning so much that make me begin to obviously want to become better informed and we have not yet ruled this out as an option. After seeing the story of Samuel who was operated on in 1999 in utero I must admit the story is absolutely amazing of what photographer Michael Clancy photographed when he was commissioned by the USA today to take pictures during the surgery. Apparently the way it works is much like a c-section, except the doctor’s turn the baby while in utero and perform the surgery to close the spine. The baby is never removed and then the mother and baby recover until it’s time for delivery. During Samuel’s surgery the little guy showed his sign of strength as he reached out and grabbed the surgeons hand. I share this story with you that you can go to the page directly to read more, however, I forewarn you that if you are squeamish you may not be interested in seeing the photo of this amazing little baby’s hand reaching through his Momma’s belly. But in case you care to read more here’s the link to the photo and story, including a link at the bottom to an updated story when he was several years older.

Now you all may be asking, who in their right mind is crazy enough to take the risk to undergo the surgery while pregnant…why not just wait? Apparently there is a belief that if the doctors can close the spine before birth while the baby is still continuing to develop that it can reduce issues the baby will be faced with. It is not a cure but a treatment that could considerably improve the baby’s quality of life. Once we arrived home I called the organization that is doing a research study to try to determine the effectiveness of in utero surgery versus post delivery surgery. I spent an entire hour learning of the details so we are fully informed before we decide how we proceed. Here’s what I learned:

  • The MOMS (Management of Myelomeningecele Study) is a research study that began in 2003.
  • It was started after many inutero surgeries were done and it was recognized that it should be a research study to help some how document the effectiveness of this treatment versus the surgery after the baby is born.
  • Before this study over 200 babies were operated on in utero. Almost all were born prematurely, though I wasn’t told to what level of prematurity they were born.
  • 5% of the 200+ died and the reasons were believed to be due to prematurity and not complications from the surgery.
  • The study is a random one – where they accept eligible candidates. Candidates will either have the in utero or post delivery surgery – the patient nor doctors choose. It is randomly chosen which option occurs – much like the flip of a coin.
  • If patients are interested and show potential for eligibility they are flown to one of the three research locations in Philadelphia, San Francisco, or Vanderbuilt. Most from the Orlando region go to Philadelphia. All travel, lodging, and food costs are covered. If patients are chosen to undergo the study they only incur the same medical costs they’d incur through the normal delivery, etc. (i.e. copays, etc.)
  • If patients are flown up (w/ spouse) they undergo 2-3 days of evaluation which includes ultrasounds, MRI, meetings, and other tests. If they are deemed eligible they are offered to participate in the study and they then can say yes or no. If they say yes the random choice of whether the operation happens inutero or post deliver is decided.
  • If the person is chosen to undergo the inutero surgery they stay and are not permitted to leave until after the baby is born. The surgery must be done before 25 weeks. Due to the premature issues the patient is closely monitored, though they often are released from the hospital for many weeks before the baby is born.
  • If the person is chosen to undergo the post delivery surgery they fly home and return at 37 weeks for a c-section and the surgery.  After recovery they return home.
  • In both cases they return at 1 + 2 1/2 years with the baby for it to be evaluated to determine the effects and severity of the spina bifida.
  • They suggest bringing no kids with – which is one of the hardest parts for me to even consider this. But they claimed it’s okay to bring them if there is no support or if we really want them close – there just needs to be an additional person there to care for them. I find myself struggling with whether I take this risk knowing it could potentially be better for the baby or not – because I don’t know how I can live with out my children if I went many months without my kids nearby as birthdays and holidays approach. But I also I fear not taking the chance that may keep me from helping me provide the absolute best scenario for our baby in this really bad situation we’ve been dealt.

I admit that though I see the potential benefits of this study and how it may not only help my baby but others that may go through the same issues as we are now facing – I really fear leaving Orlando…leaving my kids, my job, my photography, and all those who surround me…despite knowing they surround me virtually too – I feel so connected to those medically in Orlando. I still feel more comfortable knowing that my doctors will deliver the baby and that through NILMDTS I already know so many of the NICU staff – so something tells me as much as it will suck to be in the NICU for probably weeks or longer that I’ve already felt the warmth of those that care for the little ones who need that extra attention. I just also fear that if I don’t take this all into consideration and learn more about it and the opinions of the doctors around me that I may be passing on something that may help this baby so much and that may also in turn help our family in that the less challenges this baby is faced with – the less of an impact it makes on our family.

I’ve found myself the last couple of days gradually trying to soak in the information I’m learning which is truly overwhelming, even more so because so much is still uncertain. I am a member on Baby Center’s web site and have since shared our story there in hopes to hear from others who are going through the same concerns or have dealt with the same. I’ve even since learned of their Spina Bifida group where there are hundreds of mothers using this as an outlet to share experiences and seek out support. I’m quickly learning what a helpful group the families seem to be and now learning of many other support groups for families who have children with Spina Bifida. Thus far I’m still a bit overwhelmed with it all and too much to really seek out too much information but I know it due time it’ll help to know these resources exist.

And I suppose as we continue to think hopefully, I admit seeing the positive and uplifting moments are helping us cope. I came across this video last night of Aaron Fotheringham who was featured on the Today show in this video where he shows how much individuals with Spina Bifida can defy the odds as he does some amazing flips in his wheelchair. Okay, you’ll have to see it for yourself but it was uplifting to see that there is optimism…we’ll just have to continue to accept that all the perfect moments we envisioned happening won’t quite happen the way we originally envisioned. We hold onto the faith that they will still happen, they’ll just happen a little differently than expected. I think Betsy Page has left me with one of the most valuable comments of the countless I have read from you all who have send us your loving and supportive thoughts. You may recall I photographed her son Andrew back in April. I recall learning of her son who was born with a heart conditioning and I remember thinking of how hard those moments must have been for her family. I must admit I see in her son the same hope that I now have for this little one. She reminded me in a comment posted on my blog yesterday how God sends the special babies, the ones that are truly miracles, to people like us because he needs someone he can trust to take special care of them. Apparently God trusts us. I don’t know why but I am beginning to try to think of this as a blessing rather than a curse that we will have to go through many struggles in the road ahead in order to provide the best care for this little one. Betsy reminded me through a quote from a Bible that though most may consider birth defects like Spina Bifida a flaw or an imperfection that it was not our fault but rather more important for us to realize that the works of God will be displayed through our baby we are now expecting. Yes, we’ve known all along that this little one was a blessing. Now God is making sure we recognize just how special of a blessing our baby will be.

We should hear the final results of the amnio next week and hopefully that will help us rest a little easier as all this information continues to sink in. Until then I imagine I’ll be trying to get caught up on rest and hopefully work and school too. I admit I’m still feeling rather exhausted and overwhelmed so I pray the weekend brings a bit of rest where my mind may finally let go of the anxiety it has been feeling this past week. Thank you all again for all your support. I don’t get the chance to respond to each person individually because there have just been so many people reach out, however, I assure you we’re still listening and we feel all the love, support and prayers you’re sending our way.

Share and Enjoy:
  • Print
  • Digg
  • del.icio.us
  • Facebook
  • Google Bookmarks
October 1, 2010 - 5:27 pm

Cecilia - My heart goes out to you and your family, and I thank you for sharing this journey in your life. I also have a question for your. I was wondering if it would be ok with you if we posted your story on our FB fan page in “hopes” there might be some of our fans that has gone through what you are going through right now. Let me know what you think.


PS: You took pictures of my daughter Ella back in March. My husband brought here to your house for her little mini photo shoot.

October 1, 2010 - 8:44 pm

Amanda Kern - Thank you. You are more than welcome to share what I have shared. I’d never post anything publicly that I wasn’t comfortable with others sharing. If it can help someone else someone else – then it makes it that much more worth writing publicly.

October 2, 2010 - 1:39 am

Colleen Payne - Amanda,
I came across your blog from the babycenter SB board. I have a 4 year old son named Nate who has SB, and although he’s had more doctor appointments in his short life than I’ve had in my 30 years, he’s otherwise a very typical little boy who’s obsessed with Thomas the train, is going to be a pirate for Halloween, steals toys from his sister, has a laugh that is so contagious that everyone comments on it … SB would be the least intersting thing about him, except it has made him a hero. When I was pregnant with him, I told a doctor that a nurse told me there was a boy with SB who ran in her office. He told me, “She shouldn’t have told you that. It’s not true. Your son will not run.” Guess what–he runs.
I just want to give you hope, because when I was pregnant with Nate, I didn’t find any. First of all, it is very, very rare for there to be any additional chromosomal issues found with SB. I don’t know why the docs always have to look for that, but if you’re thinking about MOMS you’d need to do the amnio anyway. But honey, they’re not going to find any chromosomal issues. SB is enough :) but it’s totally managable. Your baby can grow up to go to college, have a career, get married, and have a family. The biggest factor in how well a child with SB does in life is how his or her parents raise them, and it sounds like you’re already a fantastic mom to this baby. Look at what an advocate you are by informing yourself! I’m very impressed at how well informed you are.
I did the MOMS study, and I’m happy to talk with you about it. You can email me, and I’ll even send you my phone number if you want. I actually work at a Spina Bifida Association, so I talk to moms for a living. :) We had a very good experience, we had fetal surgery and Nate was premature but is doing very well (check out the blog), and I have no regrets. I totally understand where you’re coming from about having other children, and honestly if Nate was not my first I would have had the same reservations. Coming from what I know now, if I had another baby diagnosed with SB, I’d try to get back in the MOMS study, and we’d figure something out with my two kids. It was that good. But it really may not be right for every family. Listen to them, pray about it, and then listen to your heart. (PS, as far as I understand, not one baby has died during the study. The protocols are so much better than they were before it was a study, and it’s much safer.)
You are absolutely right that God chooses special parents for special kids. Getting the diagnosis 4.5 years ago knocked me over hard. But God had a plan for me so much bigger and better than I ever would have dreamed up myself. It hurt getting here, but now I’m a better version of myself. I now know the purpose God has for me here. I have met SO many wonderful people I wouldn’t have otherwise. I would not have chosen it, but Spina Bifida has been a blessing in my life.

October 3, 2010 - 3:30 pm

Nancy Cali - Hi Amanda. I, too, read your posts on the baby center web site. Your name will be easy for me to remember because my little one with SB goes by the same name. And we’re almost neighbors, as I live in Tampa! All of this is overwhelming, I know. The only way I got through it all was to let go and acknowledge that my fate was in God’s hands. I experienced a double-whammy, a breast cancer diagnosis and conceiving a child with SB at the same time. My Amanda is such a blessing because she is my one and only child. (Chemo has rendered me infertile now.) She is definitely in the best-case scenario group. She is 21-months old, nhas no shunt, and is walking with AFOs. I share my inspring story with the world through my blog, Chemomama. I wish you all the best as you make these difficult decisions. Feel free to e-mail me directly or look me up on Facebook if you like. God bless you and your family.

October 7, 2010 - 12:45 am

Cecilia - Hi Amanda, I thank you for for letting us in to your life, no matter good or bad. You have and your family has been on our minds ever since for the last couple of days, and we are checking your blog every day for updates. We do understand this is a very hard journey for all you and it breaks our hearts that you have to go through this. We also would like to thank you for letting us share your blog with our community. As soon as we post your story I will let you know.
Ps: I noticed I wrote you took pictures of my daughter Ella in March. Oooops, it was actually in June. Yep, that is what happens when you are a mother of three, can no longer keep track of anything.

Your email is never published or shared. Required fields are marked *



There was an error submitting your comment. Please try again.

F a c e b o o k   f a n   p a g e
T w i t t e r