Big long words

Our trip to Seattle was well worth it. Dr. Judith Hall is one of the kindest doctors I have meet. Not only does she have a wealth of knowledge to offer up, she sincerely showed that she cared. Not only for the time she was sitting with us, but for Anabelle's future. For the future of our family. She wanted to focus on Anabelle as a person, not just a diagnosis. 

I know that seems like an oxymoron because I went searching for a more definitive diagnosis. But I didn't go searching because I needed to validate anything. But I just wanted to have more information.

But to the juicy parts. 

Dr. Hall believes Anabelle is in the Amyoplasia spectrum. And on the severe side of Amyoplasia. She cannot say definitively, but believes this is correct due to the Gastroschisis along with the AMC. I'm getting ahead of myself. 

The reasons she cannot say it's Amyoplasia 100%:

 - Kids are typically presented with their arms stuck straight and legs bent,  kind of like a pretzel.  

 - Anabelle is opposite of this. Even though no two people are effected exactly the same way, Anabelle is pretty far from the typical Amyoplasia kid. 

 - Anabelle has these long dimples on her forearms and legs. Dimples in AMC are areas that didn't move much at all in utero, causing little to no muscle (and other things) to develop, so the skin basically stays to the bone, making a dimple. Ana has them on her shoulders, elbows, wrists.. All typical places. But Dr. Hall has never seen the ones on the forearms and legs quite as large as Anabelle's. Also, she was puzzled because she has seen kids with dimples on the legs, but shorter ones, and when they do have them, it was caused by the placement of the foot/feet. Meaning the toes were facing up towards the shin. Ana also does not fit that category as her feet were turned out. 

Back to why she thinks Amyoplasia in relations to Gastroschisis. She explained that in every big study anyone's done in Gastroschisis that 3-4% of the participants have Arthrogryposis, and of those with AMC, all are Amyoplasia. 

She also thinks it was all caused in relations with the vascular system. I can't remember exactly what she was meaning (I know, totally dumb of me), so I will be emailing her shortly for a refresher. 

But she cannot say exactly what caused any of it. The AMC or Gastroschisis. But she did say she is running a study of AMC and Gastroschisis/bowel adhesions soon, and will be looking for similarities. 

She also said if she finds anyone else with long dimples like Ana that she will be in touch with us. There is another genetic test they can run, more fine tooth then the two we have already ran. 

She did say that she recommends us returning to our local geneticists when Anabelle is about 16-18 years. 

AND. She said that of course she cannot guarantee anything.. however, in her observations, kids with good hip movement can walk. Anabelle has GREAT hip movement. I know that she isn't so amazing she has a crystal ball or anything... But Ana's uppers (hands/arms) don't function too great, (though she is making great strides!!) so if she can have walking in her pocket, I won't say no to it. No matter what happens she'll be fine, it'd just be nice to have the benefits of lowers.  

We also got the chance to meet other AMC families. It was really fun. There was an adorable 3 year old little boy. At first, very shy, but then he started joking around with me. Just made me miss Amelia and Allison all that more. I'm not sure how we're going to make it in March for a week when we go to Philadelphia. 

Side note: She is interested in food! We have been giving her little taste of it, and now when she sees food she yells at us if we don't give her tastes. By little tastes, I mean we dap our fingers in what we are eating and put it on her tongue. I cannot wait for the bronchoscope to be done with so we can hopefully start feeding her orally. Although, I don't think that will happen anytime soon. When we give her tastes, she is still swallowing the way she was when she was orally eating. Imagine eating air. That's the closest I can come to to describe what it sounds like. As if she is eating and breathing at once. 

Side note #2: So far this month, besides therapy, she has a total of 2 out of the home appointments. TWO! Last summer it was 20. Just shows how much she has improved in the health department. 

Promise, pictures in the next post. :D

With love, 

The Polk's

Travelin the states

So just a brief update. Without pictures. Booo. I know.


We finally have Anabelle's helmet. The right one. I guess the manufacturer sent the wrong one or wrong material or something... and she ended up with a BLUE SCOOPY DOO helmet for a week.. Very opposite of a little girls helmet.

We ordered a plain white helmet, and are going to order sticker decals for it to dress it up! She is getting more use to it, although her head is still sweating like a pig in it. It's really gross, but we're told that calms down after a few weeks.

Tomorrow we fly out to Seattle for our appointment with the infamous Dr. Judith Hall. Very excited. And nervous. I know it seems silly and pointless for me to seach for the answers we may never get. Like they why, or the specific diagnosis, etc. I am not sure it will help any. But at the same time it might. Even if not, I would like to be prepared just in case Anabelle asks me those questions when she gets older. Not to mention try to be as educated as I can be. I learned last week that I know very little while talking to other AMC families.



They have a luncheon during the clinic for all the AMC families there, which I am really looking forward to.

Oh! And we had a cardiology appointment a while back, and he said she only has a small PFO. And that it's very common, 1 in 5 adults have it and don't even know it. He did notice that her port line is in her heart, which he doesn't like. But he talked with her surgeon and he said it's fine. So we can check cardiology off the list!
And big news!!! She is starting to sit unassisted!!

We sit her on the couch, propped up but laying back, and she will sit herself up off the couch. Sometimes she falls face forward, or falls to the sides. But she is doing so wonderful! It's like she decided that she was done with always using something for support!

This is extra special news. Besides being a huge developmental milestone that is. We are going back to Philadelphia in March for a week of intensive therapy. If she can sit unassisted, it opens the doors for possibilities of assistive devices such as standers, walkers, etc. Also, it opens the door for the possibility of the WREX (a device to help with arm use).

She is getting stronger everyday. We play a game where we hold her hand up and she has to use her own strength to pull it down. She love its and thinks it's hilarious. It's mostly shoulder use, but I'll take it!
AND!! More big news! She was playing on the floor the other day, and I look over, and she's on her tummy. All by herself! She doesn't like that too much because she is face down since she can't get her arms up, but she did it! TWICE. All by herself! She's going to miss her regular therapy this week because of our trip, but I can't wait to tell them.
She is thriving. And learning. And growing. And doing wonderful all around. I am such a proud mama. She is one in about a month, and to see her go through everything she has this past year, and come out on top. I am in awe.
She's a pretty amazing lil gal if I do say so myself.
Thanks everyone for the continued love and support. It really has made a world of difference.
I promise (well.. I hope to) have pictures next time.

With love,

The Polk's

Quick recap

So I know it's been far too long since I have updated. It's mostly due to lack of time. So I am forcing myself to sit here and do it!

The last update was just before we went on our second trip to Philadelphia. 

So now that was almost a month ago now. Realizing that I feel pretty bad for not updating. 

It went really good! It was just me and Anabelle for this trip. We also used Hosts for Hospitals (H4H) for the first time too. All in all, it was a good trip. The family we stayed with was sweet beyond words. They opened their entire house to us. The casts were removed. And legs and ankles look amazing. 

The top picture is before, then after is on bottom! Oh, and see how chunky her lil thighs are now too! 

So casts came off, then we went to make sure her braces still fit. We tried out the AFO's and KAFO's. The AFO's just needed to be made a little wider for her new chunk. The KAFO's needed a lot of reworking. She grew about an inch on one leg, and almost an inch on the other leg. And they also needed to be made a bit wider. They had to mail them to us since their metal worker already left and it was the weekend. Below is a picture of what a KAFO looks like. Ana's looks pretty similar, and even has a butterfly pattern!

So our appointment was December 7th. It's the 27th now. And still no KAFO's. Thanks to lovely UPS. They said we refused the package. Right... So they are on their way back to Philly, then back to us. As long as we get them eventually...

We are going to go back in March for a week. A week of intensive therapy. That means daily therapy geared to help her focus on ... wait for it ... WALKING! So our goal until then is to get her to sit unassisted. Over the past few weeks she is getting a lot better at holding her head by herself. I think it is do-able! 

The flight back Anabelle must have caught another bug. She has been sick on and off since then. We started her on Albuterol for the congestion, coughing, and ickyness. We also did another sleep study. We will get the results on the 7th. Really hoping for good results. We also saw her pulmonologist. He recommended doing a bronchoscopy when she is fully over all this ickyness. 


She is getting use to her AFO's. They are keeping her ankles straight. 

Another awesome note. Her GI said that she is getting too big! Well, to quickly at least. So we get to cut down from continuous 24 hours feedings to 18 hours a day. Last weigh in she weighed 15 pounds 10 oz!! CHUNKY! That's almost 11 pounds since she was born. Amazing. 


And she is talking up a storm. She says 'Da da da da da', and 'Ya ya ya ya'. She's become a lot more social too. As long as she has sleep in her. And she is sleeping better most nights, as long as she is feeling good. 

It seems like the appointments are slowly dwindling. I remember when we had 20+ appointments a month, and AMC families told me that it gets easier after a year, and appointments will slow down. I didn't believe it when they said it, but it's slowly starting to! 


Oh, and we had a wonderful Christmas! Ana didn't cry when she meet Santa! 

I can't believe we are creeping up on a year already. Just a few more months. I know time flies with kids, but it seems like this last year has gone by much quicker than normal. Luckily even though it is going fast, it is getting better and better. 

Just so thankful for my beautiful family. And everyone for the support. We couldn't have made it this far without it. 

Thank you!!

With love, 
The Polks

The new normal

nor·mal

 [ náwrm'l ]   

1. usual: conforming to the usual standard, type, or custom
2. healthy: physically, mentally, and emotionally healthy

Firstly, I don't want anyone to be offended. My intend is solely to express my feelings. If you disagree, that is perfectly ok and I accept that. As I hope that you accept that mine differ from yours and we can still respect each other. 

I have three daughters, Anabelle is our youngest. I have done the baby things that majority of people deal with, what you typically think comes along with having a new addition to the family. 

With our older girls there were the middle of the night feedings, burping, spit up, introducing foods, tummy time (with ease), learning to crawl, holding their heads up (basically from birth..), doctor appointments for check ups and only very rarely between, playing with toys, etc etc. 

With Anabelle there are continuous feeds, no need for burping because she has a bag that does it for her, and nothing is in her stomach anyways, spit up that is bile only and due to severe reflux, nothing orally because she can aspirate, a variety of medications and hospital visits, and very physically delayed. Oh, and about 20 doctor appointments a month. 

I do not say any of this in a negative light. I mention these things because they are not normal. People continue to tell me that Anabelle is normal. Yes. There are things about her that are normal. She is a beautiful little girl, a wonderful addition to our family, I wouldn't trade her for any other baby, and her basic needs are normal as any other baby out there. 

However, her feeding bags and list of medications are not normal. 

Her formula being prescription formula is not normal. 

Her going to therapy twice weekly is not normal. 

Yada yada yada....

I hope everyone understand what my point is. I am a little tired so it makes sense in my head, and I just hope it makes sense as I type it. 

So medical update! yay.

We have the first set of results back from the muscle biopsy. From the conversation with the Geneticist all positive. The basic: It's non progressive. Which is the answer we were looking for. In the consult, he said that sometimes conditions start out looking like just Arthrogryposis, then become degenerative. So finding out that she can only get better was a huge relief. He also said she has Fiber Type 1 & 2 disproportion. Also, he said something about active necrosis. I am confused by all of this. It seems a little oxymoron to me...  And the nurse was trying to explain the blood results over the phone, and I was totally confused. I asked her to send me the report because it was all just too much to understand over the phone. Oh, and they are still doing tests on the muscle to see what else they can find since the first tests were somewhat inconclusive. 

These are just a few paragraphs from the records, just to explain how easily I can get confused:

'The muscle biopsy shows necrosis in two adjacent fascicles with near complete necrosis of their fibers that are being replaced by an infiltrate of histiocytes at the periphery of the necrotic fascicles. That change, which essentially represents infarctions of the two muscle fascicles, is not present in the remaining fascicles of this biopsy. The necrotic fascicles are not associated with significant inflammatory infiltrates other than the histiocytes at the periphery of the fascicles, and the remaining fascicles of the biopsy remain free of inflammation  There is no evidence of vascular thrombosis.....

Trichrome stain does not show the presence of "ragged red" fibers that could indicate a mitochondrial myopathy. Likewise, stains with SDH and COX (both mitochondrial specific enzymes) show no evidence of an abnormal pattern of staining. The fibers retain a normal amount of glycogen with PSA stains with and without diastase and normal amounts of lipids are detected with Oil-red-O stains. NADH stain does not show the presence of target or core fibers.'

So... with that said... if you understand all of this please let me know what the heck is means. I understand bits and pieces. But.. 

So with that and her appointment with the neurologist, we are moving forward with another MRI. I don't really know what the right path is, or if we are choosing the right steps, and all I can do is hope that we are. It will be about 3 hours and it will be on her brain and spine. So that means anesthesia for the 6th time since she was born. Not my favorite, but it's what we have to do. 

I wouldn't trade any of this crazy chaos for the world. Of course there are times I want to just throw the white flag up. Then one of the girls or Kyle will do something to remind me it's all worth it. I am remind to appreciate every day given to us. 

When we first found out there was something different with Anabelle, we were told she probably wasn't going to make it to birth. So here, 7 months and 14 days post birth, I can only be thankful for our journey, no matter where it leads. It might not be the normal path, or the path we expected, but it is ours and I wouldn't change it for anything. 

With love, 

The Polks