So It Begins

Tomorrow begins the battery of tests Baby J will undergo to see where we stand with her TSC diagnosis. In the morning we will go to the hospital for an ultrasound on her kidneys. I guess there's a lot I'm still processing. I've had a couple conversations with the genetic counselor this week. She's really great and has been trying to get answers to some of my more specific questions. I have a lot in my head but don't really know what to put down here or how to do it. In lieu of something more substantive, here's a video I just shot of Baby J playing in her exersaucer (or neglect-a-saucer as a friend of ours called it) and clapping.

And don't worry, I'll have an update on her kidneys for you as soon as I know something.

Bloggy Meet Up!

Today Mom, Baby J, and I met the wonderful Crunchy Granola, Politica, and Curious Girl. It was a lovely time and hopefully we will see each other again soon! As an ode to Phantom Scribbler and her pictures at meet-ups, we took a hand photo. Here it is.



From the top left (gold ring): Politca, Crunch Granola, Rev Dr Mom, Baby J, me, and Curious Girl

Really?

It is very hard to believe that there is something wrong with Baby J. I mean, maybe there isn't anything wrong but some defunct genes but it's hard to believe there could be something wrong with her. She seems so smart and healthy. Today is Hubby's birthday (Happy Birthday, babe!) and we went out to dinner with his dad and stepmom and Baby J. While we were there Baby J started mimicking her Grandpa clapping. He would clap and then she would clap. Over and over and over again. It's hard to understand how she could have any developmental delays. And maybe she doesn't but I am just having a hard time wrapping my mind around all of this. White marks = bad genes? It's terribly mind-boggling.

You know after you have a baby and you totally lose your mind? You can't remember anything? Well, I'm experiencing that times 1,000 these days. I can barely form coherent thoughts. I feel like I can't say anything intelligent to anyone and I'm really afraid I'm going to get into a car accident because I'm so distracted. I don't know how to process everything and I am trying to keep things as normal as possible right now since we have no reason to do otherwise. It's just hard. I want to keep some sense of normalcy but on the inside I'm a mix of sad, scared for my daughter, anxious and really afraid of what we are going to find out. I'm trying to keep up appearances so to speak but I'm afraid I'm not doing that too well. Maybe I just don't know what normal is these days.

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I do want to say thank you for your kind words. Part of the reason I blogged about this all early on in the process was because I have a feeling I'm going to need you guys. I have always really tried to be there for my friends but right now I feel like I just need people to be there for me. I don't have the mental capacity for anything else. Anyway, thanks. You all mean a lot to me.

Where do I start?

Where do I start?

Baby J has been diagnosed with a rare genetic condition called tuberous sclerosis.

Now that I have that out of the way, I guess I can start at the beginning. Baby J was born with a mark on her upper, inner left thigh. It sort of just looked like a white raised birth mark. Sometime down the road our pediatrician referred us to a dermatologist just to have it checked out. Between getting referred to the dermatology appointment and actually going I noticed some random white spots in different places on her body. They were pretty small and very hard to miss. One on her rib cage, another on the back of her right elbow, and another on the back of her left heel...there are more but those are some of the more obscure ones.

Two weeks ago we saw the dermatologist. Her opinion was that the white raised mark was probably just a birth mark. She was more concerned about the random white spots and referred us to the genetics center here. She said often they are nothing, but sometimes they are an indication of a genetic condition called tuberous sclerosis. That afternoon the genetics center called with our appointment time.

For the last two weeks I have tried very, very hard to not go crazy reading information online. I have only allowed myself to read the Tuberous Sclerosis Alliance homepage. I didn't want to read random scary stories so I did my best to only read this website and hope it was all for nothing.

Fast forward to Friday's appointment. We go to the children's specialty area of the hospital. We meet with a very nice genetic counselor and a very nice geneticist who specializes in pediatrics. They looked Baby J over and left the room to talk. They came back and gave us the diagnosis. With TS (or TSC for tuberous sclerosis complex to differentiate it from touret's syndrome which is often referred to as TS) there are a few different skin abnormalities that can arrise. When a patient has two of them, doctors typically feel it's enough to diagnose a patient with TSC. They felt her white birth mark and her white spots combined for this diagnosis.

Obviously I was extremely upset. Thankfully my husband was there too. I didn't absorb a whole lot of what we talked about next but the genetic counselor is more than happy to talk to me whenever I have questions. The next steps for us are for Baby J to have an MRI done to look at her brain, a kidney ultrasound, and to have blood drawn to do some genetic testing. We will also schedule an appointment with a pediatric opthamalogist.

What does this all mean and what does TSC affect? Well, we don't really know what it means right now. There is a wide spectrum of how TSC affects people. Some people have TSC so mildly that they are never diagnosed with it. Other people have tumors grow on a number of organs (eyes, kidney, brain, heart, etc) and have several developmental problems. TSC can also cause seizures. One third of cases are passed down from family while two thirds are just a random genetic mutation.

Our pediatrician called on Friday evening to check in on us. Baby J had just had her six month check up on Thursday so we had discussed what was going on and she knew how worried I was. She spoke to the geneticist after our appointment and they both agreed that Baby J seems very mildly affected at this point. The fact that she seems to be meeting her developmental milestones and has not had a seizure to date are very good signs. Right now all we can do is hope for the best and wait and see what the battery of tests show up. They are scheduled for the end of October.

I have been vaciliating between totally level headed and matter of fact about her diagnosis to totally upset and feeling constantly near tears. People live healthy lives with TSC and right now there's no reason to think Baby J will be any different. I have to keep reminding myself that Baby J isn't sick, she's still the same baby. She's had this condition since birth. She is still the same baby. Now, however, I find myself totally petrified that she's going to have a seizure and I'm not going to be there when it happens. Leaving her yesterday to go to work was probably harder than leaving her at daycare the first day. And having to continue to rehash this with people is not going well. We've decided to not tell everyone. We've begun to tell our close friends and family and part of me wants to tell more people because it feels like something that is defining my life so much right now, but it's just not the right time. We know very little about how Baby J is being affected by all this right now and if I'm going to tell everyone I'd rather have a better picture of what is going on. I feel like I'll be coming here more to get things off my chest about what's going on. I have so much more in my head but don't really know how to articulate it all right now. Everything still seems pretty surreal...

Reason #4,586 Why I Love My Husband

This is what greeted me at the door when I got home from work last night. Baby J's tiny shoes with all of ours (ok, three of those pairs are mine and one is my sister's). My husband, he is teh cute.

A Happy Report

• Baby J is back up to 14lbs 1 oz. She's just two ounces shy of where she was at her four month check up so things are looking up.
• She gained seven ounces in seven days!
• Apparently she's just a snacker and I'm okay with that. She can eat as often as she likes.
• Ears are clear.
• I am pretty sure she's starting to do more serious teething. She was chewing on the nurse practitioner/lactation consultant's stethoscope through part of our visit.
• We don't go back to the doctor again until her six month check up which will be nice.
• Well to the pediatrician's anyway. She has a dermatology appointment in two weeks for a little raised patch she's had on her leg since birth.
• The sleep isn't ideal but if she's gaining weight I'll deal with it. We had some nice cuddle time in bed this morning at her normal 5am waking but I fed her laying down and we snuggled for a bit.
• Thanks again for all your helpful and kinds words. I guess it's always something but I'm appreciative to have your support and suggestions.
  

In Which I Feel at My Wits End

• Seadragon asked how things are going. I guess they are going better.
• Baby J weighed the same amount to the 10th of an ounce at her appointment on Thursday. 13lbs 10.8oz. So it's good she didn't lose anymore.
• My milk supply is definitely up and feeling more ample which is also good.
• Baby J still screeches at the top of her lungs during feedings. I don't know why. She screeches and arches her back. Is my milk flow slowing down before she's ready for it to? If it seems like she's still hungry but not much is coming out of the side I just fed her on, I'll switch sides. She usually eats hungrily on that side too only to spit it up later.
• Also any progress we'd made on the sleeping front has totally gone by the wayside. She's up numerous times a night and has lately been waking up around 5 or 5:30am and wants to play. The past few days Hubby has gone for a long walk with her in the morning so I can get a bit more sleep since I'm up t more with her during the night. This morning, god bless her, my mom took her for awhile so we could both sleep.
  
• Many times lately I feel at my wits end. I'm terribly afraid they are going to tell me we need to start supplementing with formula because Baby J isn't getting enough to eat. I'm pretty convinced she isn't getting any hindmilk as she's only eating for about five minutes at a time. My breasts do feel drained when she's done so I'm confident she's getting some food. I just don't know if it's enough. I want to believe my body can provide for Baby J but maybe it can't. I want to keep up the breastfeeding but many times in the past few days I have felt near tears when Baby J starts to screech and arch away while she's eating.
  
• I was reading in The Baby Book that maybe she's on a nursing strike of sorts, but that doesn't feel exactly right to me. I can't really find anything that addresses what we're dealing with. It's not that my let down is too strong. I know that much.
• I don't know what to do, but am thinking maybe I should change the name of my blog to something more relevant like "Nursing Issues R Us" or "That Complaining Mommy".

And now for something more interesting than my nursing woes and complaints. Today we bought Baby J a high chair. She'll start eating cereal in a few weeks and we want to put her up at the table whenever possible. We got her the Stokke Tripp Trapp chair. Here are some cute pictures from today...

Happy baby!

Feed me!

That's more like it.

Where's mine?

Side view

I'm cute.

Model face (her own blue steel for those of you Zoolander fans)