Friday, August 15, 2008

Spondylocostal Dysostosis

I bet you are thinking, "What"? I was too.

I really thought we had our answers, or the best they could provide from the Geneticist appointment from June. I was really surprised to get a letter from them with two possible explanations for Liviana's "collection" of issues (Congenital Diaphragmatic Hernia, Multiple Hemivertebrae, Ventricular Septal Defect and one Missing Rib).

The first is a vascular disruption between her and I at some point in the first trimester. I did have a freakishly low blood pressure at 7.5 weeks (60/80) but I don't know if that would cause a vascular disruption. I consider this to be the "we really don't know what caused it so we will call it 'this' explanation."

The next is called Spondylocostal Dysostosis (I have also found it listed as Jarcho-Levin Syndrome). The report says, "...after an extensive literature review, Dr. Olney suspects that a condition called Spondylocostal Dysostosis (SCD) may be a diagnostic consideration for Liviana". Further, "...we would like to stress that it is unknown whether Liviana's birth differences are due to a vascular disruption or to SCD. Genetic testing is available for SCD, if you are interested in pursuing whether this diagnosis may be correct for Liviana. If testing concluded that Liviana does not have the genetic change for SCD, then vascular disruption may be the diagnosis by exclusion."

The letter goes onto to discuss SCD in scientific, genetic detail. I really should have paid better attention to science class. Basically, because Brad and I don't have SCD that means that we both have an SCD gene (there are 3) that are working properly. If Livi did have SCD that would mean that both Brad and I are carriers or that it was an occurrence in just Liviana based on an abnormality in the sperm or the egg. It is incredibly rare and oddly, much of the literature I have read are case studies where the mom and the dad are related...hmmm, does someone have something to tell us?:)

So, what does this mean for Liviana? I don't know. She is perfect. She looks perfect and she is an absolute wonder to me. I am EXTREMELY concerned about her spine and the hemivertebrae. I am already seen signs of issues on her back (I posted about it on our blog but not here). I am terrified that she has a future that involves spinal surgery, rods or even a halo. I want to snatch her up and protect her from that ever happening. The outcomes for much of the SCD or Jarcho-Levin are not good but I would assume if she does have it that she is a mild variant and her mortality is not going to be impacted (can't believe I even have to consider that).

I don't know, I don't know, I don't know. My head is spinning. Livi has a surgeon follow-up on Monday, as well as the NICU Clinic follow-up. She also had an orthopedic surgeon follow-up on September 18th which I am REALLY anxious for. I wasn't expecting to receive something like this at all. We have to decide if we want to have her genetically tested for SCD. She has been tested for hundreds of genetic disorders but this one is so rare that there is one place in Wisconsin that can perform the test. The cost would be around $1300. The only reason I would want to test her is for her future, what she may still face and for her future children. I also plan to wait for our Ortho Surgeon appointment, as I think he will be a good judge of whether he is seeing SCD in her.

She is going to be fine....She is going to be fine....She is going to be fine....

I just keep telling myself that.

On a better note....Leah went home just one day after her second hernia repair surgery. Can you say warrior? She is doing well and wanted to celebrate her 3 year hernia repair anniversary by having another one on the exact same day.

There are a couple of CDH babes expected to make their grand debut this coming week (looks like they all like Monday). I will keep you updated and you can always follow their progress on the links to the right.

9 comments:

Kenny and Jennifer Miller said...

Amy,

I'm praying you get the answers you're looking for. And I always have sweet Livi in my prayers for continued good health. Keep your positive outlook and have faith!

Jen Miller

Cindy said...

Oh no! Like you said, if she does have it then maybe it is a mild case and won't impact her much.

kmm0305 said...

Sounds like there are still many variable and unknowns. Like you said, she is perfect! Letters and diagnoses don't define them and these kids so often don't do what is "expected". Prayers that you are guided in your decision about testing. Hope you have some great follow-up appointments today!

All of my friends here were asking how the hospital and staff were this time, I kept telling them that its hard to compare to Children's in Omaha.

We had a small party yesterday for Leah (although I forgot to do a candle and singing!). I had to laugh that she cried more and harder about a scratch she got yesterday morning than everything she went through last week! Silly kids.

Anonymous said...

I miss seeing beautiful little Livi. I have to make more of an effort to come visit. She has overcome so much and I am sure this is just one more bump in the road that she will overcome. As always, I keep her and the rest of your family in my daily prayers.

Linda B.

Betsy Dellinger said...

Amy,

You're right....Livvy is going to be fine. You know, Ned had multiple anomolies (CDH, Coarctation of the Aorta, Meckles Diverticulum) as well and it was very difficult for the medical community to come to terms with the fact that they were all independent of each other. But, after multiple tests, they agreed that most likely, something happened early on in pregnancy when there were only 3 germ layers and the layer that affected his mid-line was most likely affected for whatever reason. I look at her beautiful photo and you are absolutely right....she is perfect. God created her and His perfection is evident in her beauty. I'll be keeping you in my prayers, but remember how fear of the unknown can consume you and easily God can heal and restore. I'm thinking of you all!

Betsy

Brian and Cassi Reed said...

Amy,
Cassi and I are praying that the answers you want will find you and they will all be good. Hold onto your faith it has carried you through before and will again. Praying for you and Livi.

Brian, Cassi, and baby Elli Reed

smibbo conspiracy said...

I was born with Jarcho-Levin syndrome as was one of my brothers and two of my own children. It is not a death-sentence by any means. If the child has respitory difficulties due to rib anomalies, there is a procedure that sounds like a miracle called VEPTR which is a titanium rib implant that gives room for lungs to grow and straightens the spine somewhat and allows the child to grow properly. I wish this had been around when my second son was born. You might want to look into it.
However, I am fine, my father is fine, my brother is fine, my two children are fine. We all look very strange but medically, we have no health problems. There are quite a few people with Spondylocostal Dysostosis who have lived to a ripe age. I am 44. My father is nearing 70.
It sounds like Liviana has other conditions that might be affecting her too, but Jarcho-Levin can be a dominant trait that is not damaging to the body systems at all or maybe just a little bit. I only wish my second son had had access to the VEPTR because his scoliosis is the worst of the family. It doesn't bother him, but I know he wishes he didn't look so strange.
Keep your hopes up. If Liviana made it this far.... you just never know.

smibbo conspiracy said...

oh and that lovely child in my picture is my daughter who was born without Jarcho-Levin. My oldest son who is 20 now was born without it too.

Anonymous said...

Hello, my name is Michelle Riddle from NC,USA. I am twenty years old and I was diagnosed with SCD at 3yrs. old. All things considered I have led a normal life playing sports, training in karate, and going to college.

Considering she got SCD and not the dominant version STD is a blessing. She can lead a normal life just keeping an eye on her scoliosis and respiratory infections.

I hope she knows she is not alone. It took me 17yrs. to find someone like me. I am the oldest in my state. I have never met someone face-to-face. Lots of prayer coming your way :)