McKusick Kaufman and Bardet Biedl Syndrome

I know I know, I said I wouldn't talk about Winsley's condition and truthfully I'm still hesitant.  Winsley, and this entire experience has felt so sacred to us.  To discuss our special family situation makes me feel incredibly vunerable.  But I've been uneasy for the past few days.  I've been reading some blogs and websites about Winsley's supposed condition and not feeling settled.  I've been desperate to find someone with her condition to bounce ideas off of.  But it's been alot of unfulfilled efforts.  I broke down last night.  I have been feeling alone, lost, and anxious about what is really going on.  How can I keep our story from others like me who may be looking for that sense of community that I have been?  I've learned in my life that our trials can strengthen others.  I've usually been on the recieving end of those scenarios which feels safe.  Never too much shared so no place for judgements.  I'm going completely out of my comfort zone and reminding myself it's okay.  Someone may need to hear this. I'm the first to admit I am not the perfect Mom, nor do I handle situations gracefully.  I've said and thought horrible things that I've hated myself for.  I've question why this happened to our Winnie.  I've wished this year to go by so things can just be fixed so people won't stare. I've been angry with Dayton, yelling "I've never had to deal with this before! I don't know what I'm doing!"  I've felt more heartache then I can not put into words.  But I've also felt love from people I don't know and whom I'll never meet.  I've been blessed with an extremely helpful family who sacrificed time and money to clean our house top to bottom during hospital stays and who have gone to doctors appointments with me.  Time to pay it forward.

Let's start from the beginning.  Around 34 weeks of pregnancy you're able to get the 3-D ultra sound.  We opted out of that, as it was $100.00 and we figured we'll be seeing her in real life in a few weeks anyway.  In retrospect, I'm still happy we didn't.  Had we known then we would have been even more worried.  After long hours of labor Winsley was here!  When they laid her on my chest the first words out of my mouth were "What's that?"  I felt bad for saying it right off the bat but after pushing and laboring I don't think I had a filter at that point. She was born with polydactyly on both hands and syndactyly on both feet.  She had 25 fingers and toes. 

  

None of the nurses and doctors were worried about it because extra digits are not that uncommon.  My mind was so concentrated on how that happened it didn't even cross my mind they could be removed.  Dayton's Great Grandma had an extra thumb and we just thought she sent Winsley down with a little piece of her  :) We had x-rays done the following days and were told we could get them removed at a few months old.  They removed one of the "fingers" on her right hand (it was just a flap of skin so they just tied it off) although she still has webbing between her ring and pinky finger that will need correcting.  And had her little extra toe on her right foot taken off just a few months ago.  It was hard in the beginning to come to terms with it but I absolutely love them now!  So what, she had a few extra fingers and toes!  She was perfect to me and I knew she was sent down here exactly that way.  So we left the hospital and thought her hands and feet were the big trial we would face but little did we know about what was coming.  At ten days old Winsley was extremely lathargic and hadn't eaten more than ten minutes in the space of ten hours.  I was frantic. Everyone tried to calm me down, but I knew.  We headed to the hospital and as we got there she had thrown up all over herself.  I lost it.  What is happening?!  They did blood work and spinal taps in the ER and while we waited for result we were sent to another hospital.  We stayed for two nights and everything came back okay.  We were sent home and that night she had thrown up everywhere again.  Which brought us to the next ten days of projectile vomit almost everyday. Like I mentioned in this post I thought they were symptoms of Colic so for days I tried to just get through it.  Then as her symptoms got worse we figured out what was happening.

 After surgery Doc 1 diagnosed Winnie with Hydrometrocolpus and Vaginal Atresia.  Something correctable!  That's all I could hear when he told us.  She'll be okay.  Everything is fixable! Infertility, was brought up but we have yet to jump to conclusions.   Over the next couple days we planned for another surgery to make a drainage point as a temporary fix for the hydrometrocolpos then the big surgery would be held at six or so months (has since been pushed back to next year).  Our nurse work is required every week to dialate the area down there to make sure it stays open and draining.  That has it's own set of heartache and I dread it every week.  I pray so hard before we do it to help her know that Mommy loves her and that I dont want to hurt her but this is what is best for her.  Anyway, In the hospital they also did and echo on her heart and an ultrasound on her kidneys.  Because they can all be related.  Bodies are incredible right!? Both her heart and kidneys checked out fine!

We met with a geneticist a few months later to see how these her hands and the atresia correlate.  He said there are two syndromes she could have. Mckusick Kaufman Syndrome and Bardet Biedl.  The two look almost identical in infancy but then change dramatically as the child gets older.  MKKS is simple, commonly found in girls, and the better of the two options.  It's pretty much just what we are already aware of.  But Bardet Biedl is more complex.  If she did, in fact, have Bardet Biedl she could develop obesity, kidney failure, blindness, and learning disabilities.  The thing with syndromes is that you could have a list of 10 symptoms but the child may only have 5 out of 10 or 2 out of 10 so it's hard to pin point.  Those two syndromes vary in severity from case to case.  Her genticist recommended we get the MKKS test but of course it was pricey.  He didn't seem worried about Bardet Biedl but it is so hard to tell this young.  Our children have a 25% chance of inheriting either syndrome if Dayton and I are in fact carriers of this mutated gene. Her pediatrician politely pointed out "Yes, but that also means there is a 75% chance they wont".  I'm so grateful for his attitude and perspective.  In my gut I don't believe she has BBS.  She is lean, meeting milestones, and responding well to sights and sounds.  But I also don't want to wait to see if she suddenly gains weight rapidly or one night can't see me in the dark.  

I have to admit although this has changed our life it doesn't seem so strange.  When Dayton and I first were married I told him that I felt our children would have learning disabilities. He looked at me and said "I've always thought the same thing".  We don't know what the case will be yet with Winsley but it's almost like we already prepared for this...a little.

I spoke for the first time today with a geneticist who has a group in another state who specializes in BBS and MKKS research.  I can't explain how nice it was to talk to someone who could give me more information than just the 17 articles I've been seeing floating around the internet.  She was so kind and recommended Winsley see a pediatric Opthamologist to check her vision.  I talked to her geneticist  again and we'll see what the best option is for BBS and MKKS testing. Phew! Life is a whirlwind.

And then there's Dayton. How could I do this with out him? He has been so brave for me. After Winsley went in for her first "thoracic exploration" surgery to figure out what was causing the distention in her stomach we went to the surgical waiting room. Our family was waiting for us and I broke down and cried in my moms arms. Dayton immediately went into the bathroom for a few minutes. I let him be. I don't know if he was crying or angry or just going to the bathroom haha! but I know he was hurting but he tried to be strong for me so I just let him deal with things the way he needed to.  There were many times my mind blanked and I couldn't think of questions to ask her surgerons. He would take control of those conversations and think of things to ask that I would have forgotten. He's been able to help me laugh too. One night Winnie was in her cage/crib thing all hooked up and we were sleeping on the couches in her room. We said prayers and I turned away to try and get comfortable. Dayton all the sudden tickled me and we were both just dying laughing. He kept saying "Okay, go to bed I'm done." Then would do it again and again. In the midst of all the sad I needed his silliness.

Although, we don't have all the answers and the unknown is terrifying, I can't help but be happy.  Winsley is an angel and the sweetest girl in the world.  I'm grateful for her health right now.  I don't know if it's because this has now become my little world but it seems I'm hearing more and more of babies coming down with little "things".  They're ready for the physical challenges as long as they can get a body.  Makes me more grateful for mine.