Genetic Counseling

I make a request before you read this, that if you are going to read it, I need it to be with a loving open heart. We have had a really long day and I am drained. As much happiness as there is with raising Jillian, there are also days like today that are very real and full of emotions. I am writing this post tonight because it is how I really feel about the situation, my raw feelings which are strongest in the moment,  and as a part of feeding tube awareness week, it is a peak into our life.

Today we had our big genetics appointment that we have been waiting for since December. It is one of those appointments that you feel like takes forever to get here. At this point it does not feel like we are always waiting on the next appointment like we once were. While she still has strange things that pop up and urgent situations, we are better prepared for them then we were when this all started. While it still feels like we live in doctors offices, many of our visits are a lot more spaced out then they use to be. I remember a time when we saw GI every month. We are at every 3 months now.

The point of this visit was to discuss genetic testing. Up until now we have not had insurance that would pay for the big genetic test and it is expensive (over $15,000) and state insurance will only pay about $1,000 and our past two insurance companies have had it outright listed in our plan booklet that they would not cover it. We still don't have approval for it yet from our new insurance however our plan book says they cover it and the genetics department says they are the best insurance when it comes to covering genetic testing. We are really hoping they approve to pay for this test otherwise we are going to need to pay for it out of pocket.

We are doing genetic testing for several different reasons. We have yet to find something that explains her odd grouping of symptoms and there also seams to be a genetic correlation.

Today's meeting was almost 2 hours long. Thankfully my mom came with and kept Jillian entertained while Brent and I talked to the genetics counselor. Most of the appointment was spent with them explaining how they do the test and what they look at and for. It put all of those science classes we took over the years to good use.

Then we had to choose what information we wanted included in the report. Anything that is related to her symptoms they automatically will tell us, along with anything that points to a treatable childhood onset of an illness. We needed to decided if we wanted to know if there were any not treatable childhood illnesses non related to her symptoms or adult illnesses that she is at a greater risk for based on her genes, or if she is a carrier for any illnesses. We chose to opt into telling us whatever they find. They are not going to go looking for things that are not related to her list of symptoms, but they said that sometimes when looking they find other things and they wanted us to choose before they did the test if we wanted to know or not.

To do this test most effectively they also need to do the parent's DNA sequencing as well. From us all they need is a blood sample. I will tell you, that was the least painful easiest blood draw I have ever had. I want all my blood draws done at Children's now, lol!

The other part was we needed to give full family medical histories for both sides of our families.We also needed to go over all of Jillian's symptoms so they could focus on the correct places in her genes. They were trying to be really gentle with us as some of the terms used to describe some of Jillian's symptoms are big and hard to take in at first (I know how it felt the first time I overheard a doctor tell someone else that Jillian was diagnosed as "failure to thrive" and how it felt like someone had punched my heart) but for us at this point these terms have become "normal" to us and we are use to the medical jargon a lot more then when we started.

"How are you doing with it all" is the question that hit me like a ton of bricks tonight. It is not that today was particularly hard health wise for  Jillian. (She made it the longest she has in a week without a neb today and was much more like herself.)  Honestly it hit me harder emotionally today then bringing her to the ER two weeks ago, because to us the ER is somewhat normal. We have been there almost monthly lately.

So what about it made it hard emotionally? Because it made it all feel so real. When your baby is little and stuff start coming up, doctors will say "we will watch it, hopefully she will grow out of it." I can't even tell you have many time I heard that line the first year of Jillian's life. Instead of growing out of things, this have slowly gotten worse. A new symptom here, another illness there. But in the moment you live. You do. When your kid can't breath you get them help, you don't wait around pondering it. We have known for some time that this was not just going to go away, but you have to accept that differently when you are sitting in a genetics office talking about gene sequencing. It is not something they do just because. It is expansive and time consuming. It will take 3 months for them to interpenetrate the data of the test. We are not expecting to hear anything until at least summer. 
I am a doer... I just jump in and take care of what needs to be taken care of but every once and a while it all just hits.

After the appointment we went over to Target to buy Jillian a new passy. Her's broke on our way to the appointment as she is going through them about one a day from biting (it is one of the very few things she can safely put in her mouth and she refuses most chew/teething toys, and sucking on a passy helps keep what little oral skills she has) If anyone finds Timmy Tippee passys cheep let me know!
We then headed over to Mayfair. I had a coupon for Build-a-Bear that was about to expire. Jillian is very good about leaving the Tubie Friends animals alone which is impressive for a 2 year old. She also did an amazing job during the appointment. With the blood draw and all we were at Children's for around 3 hours. She has been eyeing up the Build-A-Bear Olaf for a while. We let her go make Olaf and put the sound chip in that sings "Let it go." She was SO excited! We then walked around the Mall and went to one of her other favorite stores, Barns and Noble. She LOVES books and was so excited to get a Hook book. She is in love with Captain Hook from Jake and the Neverland Pirates right now. She has a stuffed Hook that "pushes" her inhaler down and that is the only way she will  take it right now. The only book we had with Hook in it was a Disney cookbook I have so she kept looking at the cookbook however that was a problem because when she sees food she creates saliva just like anyone else. Well when she makes saliva and since she does not have food she will sometimes start to choke on the saliva. This made finding a new book with Hook in it a very important task today...
We then met Dan at Cheesecake Factory for dinner. She had hit her limit during dinner so we quickly finished and took cheesecake to-go. She had sat a lot today, and sometimes for her restaurants are just hard. We can't entertain her with food and sometimes nothing in the diaper bag is interesting to her 2 year old self. She is still on nebs so her body is still really jittery and sitting still was just hard for her at that point, and thankfully we were with people that understood that and were ok with eating and leaving. It means a lot to me when people don't try to push Jillian in times when she just can't sit anymore and are ok with cutting a meal short.

Please join us in praying for the testing to come back with results that show us what is going on and how to best help Jillian. We are very aware that this test could tell us what is wrong and for there to be nothing that can be done about it, and at this point we have hit a point where we are ok with that, what we really want is to know what is going on so we can best help her. Please pray that insurance covers the testing and that they make their decision quickly to cover it because currently we can not actually run the test until we know if they will cover it.

We want to thank the people who have joined us in this journey. We can not even begin to explain how much that means to us. Thank you to the person who brought us food last night because they knew this week would be stressful for us. Thank you for listening ears and praying hearts.

Genetics December 2014

Tonight I am exhaust, and drained... but hopeful!

Today was a busy day! We got to see both IR for a tube change and genetics. I was so nervous about the appointments today that my diet up until dinner consisted of two cups of coffee, a little chocolate, two potato chips, and 2 waffle sticks. Yup, I don't really eat on days like this!

We made it up to Children's in good time. The parking structure was packed but they are doing construction on it again so the packed part was not surprising. My mom met me up there today.
Our first stop was IR to get her GJ tube changed out. They have to be changed every 3 months. She was excited at first for her hospital bands because we let her choose where she wanted them and she decided that today they were her bracelets. She loved holding the "stickers" too (labels). I love how she loves the little things about life! 
They called us back to IR and different people came over to see us. When you are seen every 3 months they start to know you. We have been visiting the IR department since Jillian was 4 months old and when she had an NJ tube and PEG we never made it the 3 months without a problem so we were seen more frequently then.
I gowned up in the paper suit, hair net and led dress. She thought I looked funny. We went into the procedure room and she sat on the bed. She was not thrilled but did just fine. Then the radiologist came in and we got started. 3 month old GJ tubes look pretty yucky coming out. She cried but laid still for them. She is still at the point where I can district her from things. I think what she hates the most is being strapped to the table. It is pretty quick to change them out and we were headed back out of IR pretty quickly. I put the hair net on her as I was undressing and she thought that was pretty funny! Life is about taking advantage of the moment!
We then headed over to the lobby area so Jillian could look at the fish. Some people were handing out balloons and Jillian was really excited to get a star balloon (a mommy safe kind)
Then we walked over to the genetics office. Her weight and height are up a little however she always measures bigger on their stuff then anywhere else so I take their vitals with a grain of salt.
Our genetics counselor came in. She started talking about how with just state insurance there was not a lot more testing they could do that would be covered (state insurance does not cover a lot of genetics stuff) and then I told her that come the first of the year Jillian's primary insurance would be United Healthcare. You could see her expression change! She said that United is one of the BEST insurances for genetics stuff because they cover the most things. This is AMAZING news. One of the tests that genetics has talked about running for 9 months is a test that costs around $15,000! State insurance will pay about $1,000! Brent's old insurance made it clear that they would pay nothing for it, making the other $14,000 our responsibility. Now with the new insurance they are pretty sure that they will be able to get it covered. Until we submit for pre-approval we will not know for sure but they are very hopeful. They said that United understands how much money it can save them in the long run to run this test instead of hundreds of other "smaller" ones.
I am feeling relieved that we have a plan! It is going to take a while to do everything. Brent and I have to meet with a genetics counselor first (a 2 hour appointment) to talk about what we want to find out from this testing and then they submit for approval from the insurance company. That appointment is set for February. Then it will take around a month for insurance approval if all goes well. Next they will take blood from Brent and I. They already have Jillian's blood stored in the lab. Then they will run the testing on all three of our blood. This will take about 3 months to complete. After that we will meet with them again to talk about results. I am hopeful that we will have results by this by summer. There is no guarantee with this test, but there is hope.
We talked again about a muscle biopsy. That is still not off the table, however they would like to run this other test first because it is less invasive. (a muscle biopsy requires surgery, where this is a blood test) We might still end up that route at some point but not right now.
We talked a little about Jillian's odd symptoms.  She has a strange rash that started on her face today. No one can explain these rashes and they go away strangely just like they come. Genetics got to see it today. We talked about Jillian's endurance and speech, and coordination issues. We talked about how her GI system seams to just stop working for periods of time and there seams to be no rhyme or reason (they thought the story of her randomly puking while checking out a Target a few weeks ago was funny) We talked about how we can't seam to make it 48 hours this fall without a neb. We talked about her reaction to the shot (they agreed too that her reaction is not normal nor ok) They said they are not sure if it is one thing or multiple things happening at the same time but they hope this test will shed some light on that. 

I can't begin to explain how good it feels to have a plan. Good enough that I am less stressed and had a yummy meal at Cheesecake Factory and dessert!

I am seeing the pieces fall into place. This is one of those times were you can look back at the trials and see where God's hand was in all of it. It does not necessarily make you love the trails that you went through but they make a little more sense. I see why Brent needed to change jobs twice this fall and why  God made him uncomfortable enough to make 2 job changes in 6 months. Without it we would not be where we are now with a chance at running a test that could help Jillian. This fall has been really rough, but like always, God had a plan all along.

Thank you SO much for all of the prayers today! They were felt. I TRULY appreciate them. I am so grateful for the people who stand around us on this journey and love us. The people who hug us when we cry and dance with us for happy news (it was awesome today watching the texts come in after I told some people about genetics, and how you could just tell that they were celebrating with us and loving us in every season) Thank you to everyone who had to deal with a crabby Amanda this morning and loved me anyhow. I don't have the energy or time to really stress about appointments like this until the 24 hours before the appointment, and even though stressing about it does not help, it still hits hard right before a big appointment and I am grateful for the people who love me though the stress. Thank you!

Jillian walking around Children's Hospital of Wisconsin in her Super Tubie shirt and Tutu!

August genetics appointment

I tired emotionally today. There has been a blessing in being crazy busy with work stuff the past few days... It has made it so I have not stressed out about seeing genetics. Funny after genetics today I am more stressed about the genetics appointment then before..

Here is the genetics plan right now:

1. Head CT. We have to sedate her for this so we are trying to get that figured out. Based on that will determine if we go to see Nero again. We are trying to be able to do her tube change and CT at the same time. I am really hoping for something amazing with scheduling. Finding me a Friday afternoon where we can do both of those things... I know I am asking for a lot but it would be best for her.

2. State insurance will not pay for genetic testing. They said she is a candidate for genetic sequencing. Paying out if pocket will be in the $12,000 range. For now her blood is sitting frozen in case we decide to do that test later. 

3. Jillian got bloodwork drawn today to check her carnatine levels. They submitted a script for a supplement in case it is low. They will let us know next week if we need to start it or not. That med will need to be taken 3 times a day...

4. The muscle biopsy is still on hold. This frustrates me. Do I want to send my kid back in the OR... No. Do I feel like we are going to end up doing the muscle biopsy eventually...yes. So I would really like to stop putting off the inevitable. I know they want to exhaust all of the least invasive options first but isn't there a point where the least invasive option is doing the "more invasive" option because the help that it will give the child will be the best thing?
5. The doctor told us that if Jilli gets any bad colds/viruses or high fevers this winter to call their office and they will most likely preemptively admit her for IV fluids and such. I am hoping to not need it at all but it feels good to have a plan in place for the inevitable.  It is frustrating to take Jilli to the walk-in clinic sometimes because Jillian does not present a typical case and sometimes I bring her in before all of the wheels fall off the wagon so they do not do much for her and we just have to sit at home and wait until she gets sick enough to be rushed in. He agreed that we should not take her to local hospitals but instead get an ambulance transport up to Children's. As I sit here and write this it kinda hits me. I have a kid that is in a health situation that justifies us making plans like this with doctors and making prearrangement was not our idea, but theirs. It is rather a humbling thought. We kinda just live the day to day and do. We don't stop often to look at all of it or the intensity. Honestly, we can't. But when we do it kinda hits you.
6. We see genetics again in December. This is where I started to get crabby. I want this process to move faster. By the time we see them again she will be 2. That will mark two years of this crazy without a lot of answers to the why. What is the underlying cause. We have a lot of "band-aids" holding it all together... kinda. She is not in immediate danger like she was younger, but the balancing act of her body functioning is held together with a lot of patches that kinda get us by day to day. It would be great to have a treatment plan for a condition instead of treating the symptoms. I want to get this moving so we can do the best things for Jilli. I feel like I am on a slow boat that I could row faster. Jilli is making progress developmentally but it is at a very slow rate. She was officially diagnosed with apraxia this week. That kinda spells out that it is going to be a long slow road for speech. The geneticist was impressed that she has made some gains so he is not as rushed about that but I don't think he understood the amount of work that it is taking to make each little tiny gain.

So that puts me at the point where I am glad we have some plan, because no plan would have really made me mad, however I don't love the speed of the plan.

On a side note, we got to meet a med student today. He was shadowing in the genetics clinic. The poor guy was so scared. The doctor asked him if he would be the one to look at her ears and the poor guy looked so frightened. I told him that Jilli was a good test person for looking in ears because she thinks it is funny. Hopefully doing an ear exam on Jilli makes him more willing to try more... however we kinda spoiled him with an easy one today.

Today my mom and I went shopping for dressed for my cousins wedding. I finally found one after looking at many stores. We found Jillian one too at an amazing clearance at Jaine and Jack.

Now I think I am ready for bed. This next week for me is the equivalent of a retail workers week before Christmas... the most busiest time of the year for teachers. School starts in a little over a week!

Ch ch ch changes...

I feel like we are in a time of a lot of transitions right now. Corney songs about changes and different seasons have been running though my head.

So what is all the change?

As I type my baby brother is working on moving into his apartment in Ohio. This will be a big transition for our family. See I went away to collage... an hour away. Seth stayed home and went to a school in town. He now has an amazing opportunity to work on his PhD at Kent State. He will be there for the next 5 to 7 years... 7 hours away! While in many families the big sister would either shrug off her brother leaving or be happy for his departure, my brother and I have never really fought. We get annoyed with each other from time to time but growing up at our house meant that fighting with your sibling was not an option. While we were not as close while I was in high school and collage, over the past couple of years we have been getting closer. He was the one I called when our heat went out and Jillian was only around 6 weeks old and Brent was out of state. He sat here all day with me while repair men marched in and out of our cold house in February. He was someone I could always call to bail me out. While my brother will always be here for me, it will just be different now. He wont be here to do crazy things like spend his birthday in a hospital room with Jillian (his 21st, none the less) or go to moves I dont want to see at late hours with Brent. It will be an adjustment. I am so happy and excited for him. This will be such a good opportunity and he is SO smart and I am SO proud of him.

In the spirit of moving, last weekend a moving truck showed up at our house. No, we are not crazy enough to move in the middle of our crazy (although Brent has suggested it and I give him a crazy look), Dan moved out last weekend. Dan moved in last June, for a month of two. He was in the process of finding a new job and his lease was up on his apartment and he did not want to sign a new lease if he was not sure where his new job would be. His job hunt took longer then he planned and in April of this year he got a new job in Milwaukee. He has since been commuting an hour each way to work. He found a place in Milwaukee much closer to his work (and close to Children's) that he will be sharing with his sister. It was hard to watch that moving truck leave our house though. Over the last 14 months we became an odd little family. He moved in when Jillian was 6 months old and had a feeding tube down her nose (yes, we do measure time at our house by what type of feeding tube Jillian had). A lot had changed over that time. He lived with us for the majority of Jillian's life so far. He could have just kept himself hidden downstairs (the first time Dan lived with us, in collage, Dan and I did not really talk or get to know each other until right before he moved out, in fact I did not even have his phone number most of the time he lived with us the first time), however he dove head first into our crazy and if Brent was not home he would help me with Jillian stuff. He made formula a few times and knew how to get her meds ready. It did not creep him out that we leave drainage bags to dry from our cabinets (although his rule was that he would not wash Jillian dishes... I don't blame him, they all smell like Elecare Jr or are syringes or bile drainage bags). He fell in love with our little girl in a way that I am sure he did not think he would. Those two have a special bond. Some nights she would just want him instead of her boring old parents. It is strange now just texting Brent on the way home from work to see what time I should plan dinner. It is an adjustment. I am sure most people would see having an extra person moving out of your house as getting things back to normal, but having him here became our normal, and now this is odd.

Brent is in the full swing of his new job. He is loving it and is much less stressed at night, for that I am grateful! He also gets home at the same time each night and does not have to work nearly as much at home. He is also adjusting to a new med he is on for debilitating head aches. His doctor was trying to do nerve blocks in his neck to help with these awful head aches and hand tremors that started about 6 months ago however the shots were making him very sick. The new med is helping a lot more with the head aches however it has side affects itself (but not nearly as bad as the shots). Brent has never been a person to sleep much and normally would go to bed sometime after midnight, however on this new med his body needs more sleep. For him that is a lifestyle change that he is still adapting to.

I am in full swing of getting ready to start my new position teaching 4K in the fall. I am really excited for this new opportunity. With starting anything new, there is a lot to do. As per normal me, I have a to-do list running that I keep remembering little things that still need to get done. Being a teacher, the time leading up to a new school year is always the busiest. My type A personality kicks in and I drive to do my best. I am excited to get my classroom set up and meet my kids. I am excited for the opportunities that this new position will give our family (I will be working 5 half days). Hopefully I get most of my to-do list done in the next two weeks. School starts Sept. 2nd, ready or not! :)

Jillian is about to have a month with A LOT of appointments. I was working on organizing calendars today and she (along with me) is going to be one busy girl! We are moving her PT and speech time in September to right after I am done teaching. We are still trying to find time to do her OT eval and will probably be adding OT to the therapy mix in the fall (at least that is what her PT has hinted at). Next week we go for her genetics follow up. I am trying to remain neutral about the appointment. I am hopeful that all of her test results are back and that we can continue to move forward with our plan. That has kinda been stagnant for months again and I just can't think about that or I get annoyed. In September we also meet with the aerodigestive clinic for the first time. I am excited to see how that all works and hopeful for some better coordination between clinics. Jillian also sees audiology to have her hearing tested again. It was tested last year and her speech path would like it tested again so we know how her hearing is functioning now. I am assuming it is close to last year. She still does not react to low tones (bass guitar, fireworks, ect). September also brings a tube change. Her last one went so smoothly and I am hoping for that again. It also brings the Children's Hospital walk/run and my cousin's wedding. Hopefully Jillian will have as much fun dancing at this cousin's wedding as she did my other cousin's wedding last weekend (I still need to get to blogging about going to the wedding and all the fun Jilli had... soon hopefully!). September will be busy for our little girl but hopefully it will be a good month for her. She has still been struggling a lot with poop and that makes challenges for the rest of her system. We are seeing gains in her speech and that makes me so happy. It brought tears to my eyes the first time she signed "book" a week ago. She normally just signs more and we have to guess out of everything around her what she wants more of so for her to sign for an actual object was huge. We are working hard on the sign for "help" so she has a way of communicating that she needs help other then screaming. She is really struggling with it because her hands do not cooperate with her and most of the time she will just start waving her hands around knowing she needs to do something with them however she struggles with making a fist. It is rather cute actually... until she starts screaming... lol. We are blessed with this little girl and her amazing smile and great attitude. I love her so much and am so proud of her.
Jillian's feeding pump also got changed out last week. I had heard that some med supply companies change out feeding pumps once a year for service however we had never heard anything from our med supply company about this. That was until I got a call Friday morning that they were coming Friday afternoon to switch out her pump. This caused a little bit of panic in me because we were going out of town on Saturday and what if the new pump did not work right? They also told me they would not be delivering it to me until after 4pm on a Friday... A Friday that I also had a ton of things to get done and had the internet guy coming over in the morning for several hours to fix our satellite and I NEEDED to go to the store before we could go out of town, thus making it an already crazy Friday. On top of that med supply was suppose to have delivered this month's supplies on Wednesday however they did not have bags for the pump in and had to wait until they got their delivery before they could bring us ours however this cut it very close to when we were about to run out of formula... that they don't sell in stores. So when they called saying they were switching out her pump it almost put me over the top, however I pulled myself together, took a 19mo old to the store during her nap time, and made it all work! So, we have a new pump (same brand). It has a few quirks but thankfully none of them caused for any more headache then getting the pump exchanged was.    

So, those are our changes right now. Rather overwhelming some days, but I am doing my best to keep it all together. For every season...

This was the last night that we all spent under the same roof while Dan lived here. We ate yummy food and played video games. See Jilli joined in on the fun too!

Uncle Seth putting his sock on Jilli. I don't think that is the fashionable shoe she is looking for

Dan's moving truck

Jilli had to check out the bathrooms at Dan's new place. She loved the big bathtubs so much she did not want to leave.

The family at Kopps. Mikaley taught Jillian how to put spoons on her nose. After she apologized for teaching her how to use a spoon the wrong way... I said it was just fine, she does not need a spoon to put things in her mouth so why not put them on her nose!

This picture means a lot to me. I know it means nothing to most of the rest of the world, but is truly special to me.

It was my dad's birthday on Monday. We went to dinner at Fred's. His kids got him "Its a Small World" dolls. He LOVES that ride!

Jilli loves the dolls too!

She put on Brent's slippers. She has a thing for shoes! She looks so tall in this picture. It is funny that the night before she was told that she could not go on ANY of the rides (with me) at the carnival in Lake Geneva. Apparently you have to be at least 36inches to ride the merry go round or small train with a parent and she is not even close to that! 

This is a waffle. This is a waffle my husband made for me. This is a waffle that my husband made for me using the recipe they use for waffles at Disney World (what I eat for breakfast daily there) because he knew how happy Disney World makes me and he knows we probably can't afford to go for several more years and he wanted me to have some Disney magic at home! 

  

Genetics

Yesterday was a crazy day!

The morning started with Jillian waking up with a 101.7 temp, a respiratory rate over 60 and nosily breathing. We started a neb right way and gave her Tylonal. Jilli and I had spent the night at my parents because my mom came with us to genetics. Our plan was to go to the really cool park in Franksville however fevers equal no park. Jilli slept off and on all morning. Around noon we headed out towards Milwaukee. We hit bad weather along the way. There was a lot of rain and our phones kept going off with alerts.

We got to genetics and ran through to down pouring rain into the building. We went up and and got checked in. They took her back and weighed her. Then the genetic counselor came in and we went over a lot of info and she did a developmental assessment.

Then the doctor came in. He said that Jillian has too much going on for the to all be coincidence. He said that no super common disorder jumps out to him so we are going to go looking for less common things. He is taking a 3 tier approach:

1. 5 very large viles of blood, urine collection (still trying to get her to pee in a bag...) and a sweat test (which will be done Monday morning)

2. MRI and Kidney ultrasound

3. Muscle biopsy and genetic sequencing

Based on results from each tier we will decide what the best next step is. They want to move quickly. We see them again in August but they will be contacting us over the phone before then to discuss test results.

I was excited that someone is really listing to us and looking for a reason not just a band-aid. He really listened to us and heard what we had to say. Thank you to everyone who was praying for our appointment!

The part that hit me hardest was the developmental assessment. The are two words that are blaring... no screaming at me off of her after visit summery "Developmental Delay." That statement kills my heart. I know it is true but as someone with a special ed degree having your child diagnosed is a hard hit. They said that she functions at a 10-12 month old. I know they are right. She turns 17 months tomorrow. That puts her 6 months behind. For a child who is less then a year and a half old a six month delay is large. They said that she needs therapies in multiple areas. Luckily I had spoken to Birth to 3 again on the drive there and they are coming out Monday to do a comprehensive eval.

He also looked at her ears while she was there. She had been pulling at the one all day and since she had a fever I thought it might be her ears. He said the bottom of one looked a little red and the other one was too full of wax to see. He said that if she still had symptoms in the morning to take her to the doctor.
 
After we left the genetics clinic we headed over to the lab. I have decided that the lady who drew Jillian's blood yesterday is amazing! One prick, no digging, easy! This woman should make a lot of money.

We then left Children's and headed to our house. As we were getting off of the interstate onto hwy 12 the tornado sirens started to go off. I then debated to head over to the day care or keep going. The sky looked better south so we kept going. We got to Lake Geneva and the sirens were going off again and there was talk of rotation in the clouds in Lyons and Lake Geneva so we decided it was best to get off the highway just as it started to hail. We ran into the Piggly Wiggly. Once the storm passed we headed over to Pizza Hut to pick up our order. Then we headed to the house and ate dinner. Jillian's temp had slowly gone down during the day but was still needing nebs. In the evening she crawled over to her rock-n-play and tried to get in. For Jillian that is a sign that she needs a neb. She always sits in her rock-n-play when she takes a neb and it is weird but she is getting to the point when she knows when she really needs one.

During the night she was up a lot with either coughing or the thunder. It was a long night.

She got up this morning a still needed nebs and was coughing so I decided to call the nurse practitioner. We got there and she said that her ears looked good. She thinks she is pulling at her ears because of her teeth. She had one molar come in Friday and is working on a second. She has 4 more teeth on their way too. Her lungs have a little rattle and sound irritated but not pneumonia. It is either a virus or from the pool water she swallowed. She does not think that she needs antibiotics right now. She looked at her mouth too. Jilli still has thrush. We are going to try a different med, however after we left the nurse called and said that the NP figured out after we left that it can have a side affect with one of Jillian's GI meds so she wants to call GI before she starts her on the med. She also said that she is really interested in the genetic test results because it might point to why we can't seam to get rid of Jillian's thrush.


So 2 doctors in two days. Thankfully each of them has a plan for how to help Jilli.

Sick Jilli

All of the tests they ordered yesterday

Jillian met part of the Hobsons

My parents always said it takes a village to raise a child. While I had my own little village of people when I was growing up the really that really shaped who I am today.
One of those families was the Hobsons. They lived down the block from us and went to our church. I started baby sitting for them when I was 11 and continued to do so until they moved to Indiana when I was in high school. They are a part of my family. I remember when the youngest, Howard, was born. I remember them taking me in and caring for my brother and I after my mom had lung surgery. I remember them talking to me about God and boys and life. They were at my wedding (Howard and Bethany were in it). I have called Bethany my little sister for a long time.
I had not seen them since I was only a few months pregnant with  Jillian. Every time they looked at coming up either one of them got sick or Jillian went into the hospital. I missed them a lot!
I was so lucky that they came to visit on Sunday night. This trip up was missing a few members of the family but it was good to see Karla, Bethany and Howard.
We asked them were they wanted to eat and to no surprise they said Wing Stop. So we headed to Wingstop for dinner. It felt like home. They are some of those people that you can go so long without seeing and it still be like no time has passed.
The kids were supper excited to see Jillian and she loved seeing them. At one point Jillian wanted Bethany and not me. I love when you can tell she just feels loved!
So without further delay... here are some pics:

We eat... Jilli tips her head back to swallow reflux :)

Jillian got spoiled!

She was kinda a wiggle worm for Karla

Sitting on the beautiful blanket they made her!

She got a new piggy bank... and bribed coins from grandpa 

This picture makes my heart smile!

Me and my sister!

A few other notes about the past few days:

• I tried to schedule Jillian a follow up with GI after her second PH probe. They told me I had to talk to the nurse. The nurse said that they were looking at adding additional tests to our hospital stay and that there were a lot of emails going around about Jillian. They said the test dates might have to change to get done the news things they were looking to add. I got an email today about a test that was added on that Friday, so I am hoepful that they were able to figure out how to get everything scheduled in the time that we are already planning to be at the hospital. Please be in prayer for these test results. As strange as this sounds we are hoping for them to turn out the same as a month ago. That will show the doctors that she really does need help and that we need to work on figuring out what the root cause is. I feel like the one doctor (not her main GI doctor) is still dismissing this as a little bit of reflux... this is not just a little bit of reflux and we need to be able to clearly see the picture to be able to make choices to do the best thing for her.
• Genetics called Monday while I was at work to schedule her appointment. They called at 12:50pm and said that the secretary would only be in until 1 and would not be returning until Thursday. Hopefully Thursday we can get something scheduled. 
• We got some interesting mail Saturday. It was the records from her last inpatient tests with a handwritten stick note on them. The whole thing was kinda interesting because we have never gotten the actually doctor copy of test results before, it has always been the dumbed down parent handout. It was interesting to read the actual results for myself and what the doctor had written. Sadly it made me question the dr even more. I really want to talk to her ped about these results or someone with medical training that was not involved in the test. I want to bounce some ideas. Sadly though her ped is out of the office this week.
• Jillian is not currently getting her night time dose of acid reflux meds because we are weening her off for the test. We are already seeing classic Jillian. A lot more reflux behavior. Her absent seizure like events are back and today she vomited in the middle of the day out of no where not having eaten anything. To me, none of that should be normal...
• A big thanks to my parents and Dan for helping me out for the past few days. Brent has been gone on business and they all helped out a lot. Brent left last Thursday morning, came home for a few hours on Sunday (so he could do lights for church and see Hobsons) and then headed back out until tonight. I am so grateful for the extra help! 
• Over the past few days we have been able to space out her nebs more and more. She is down to 3 a day! From a little less then every 4 hours, that is a big step! I think whatever caused that breathing craziness is finally leaving! 
• Side note not about Jillian... remember when my windshield shattered a few months back... well today the black stuff around the windshield started to come off as I was driving down the highway. Now I need to figure out a time to get that fixed... oh well, what is life without a few balls out of left field? 

She loves to pull up on things... still working on that walking thing though...

She threw all her babies on the floor and took their crib!

That measuring cup made her really happy for a long time!

The oxygen ween off

I will admit, the past two days have felt like forever but are a blur.

Monday morning I got up around 5 to a Jillian who had taken off her o2 and her stats were dropping. I got the oxygen back on her and her numbers went back up. After that little event I was up for the day. Brent got up for the day and got ready for work. Around 6:30 the first resident was in. He listened to her while she slept and said that her lungs sounded the same as the day before. He said that we would have to see how the day went.
Over the next two hours we were able to slowly bump down her need for oxygen. Off of oxygen her pulse ox hung out around 95. Every once and a while it would drop down into the 80's but it bounced back quickly. She did not wake up until after 9am. Mid morning my mom got there to help me out.
Around 10:15 we were greeted with a room full of gowned up people for rounds. They said we would see how the day went and that there was a chance that later in the day we could go home.
During the night Jillian had not peed. This is not normal for Jillian. She is know to soak through overnight diapers if she is in them for more then 8 hours. By morning she was bloated. She had little sausage fingers and her cheeks were full. She looked like a chipmunk. By late morning she finally started to pee. She gave us one good diaper yesterday and then the rest were so so. She pooped once yesterday too. She had not done that in a couple of days. It smelt awful! My nose was plugged and I could still smell it.   
As the day went on her numbers continued to hang out it the mid 90's. The doctors said that they wanted her to take a good nap before we could leave so that they could make sure she could keep her stats up while asleep. Jillian however was not interested in napping most of the day. We finally got her to sleep around 3pm. She was able to hold her stats in the low 90's while asleep but was retracting a lot.
Around 4pm the resident came in again and said that since she did not need oxygen anymore, and we know how to do all the other respiratory things, that she could go home. I have to admit I was a little scared to take her home. After how fast she got bad, and the fact that she was still retracting and sounding like Darth Vader, I was nervous. I knew that once we got her home we would not be able to suction her as well as we could at the hospital and that suctioning was really helping her. I took a leap of faith and signed the discharge papers.
Mom and I packed up all of our things, they suctioned her really good one last time, and then we headed home. Once we got to the end of the skywalk mom went out to get the car and Jillian and I waited inside by all the wheelchairs. A doctor that we had when we were in a couple of weeks ago on the 11th floor (and over a year ago), was leaving. She noticed Jilli and stopped to say hi. I told her we were glad to be going home. She looked at me surprised and asked if we had just been in again. I told her what had happened over the previous 24 hours. She said she was glad that Jilli was getting to go home again. Once Jillian got home she wanted to touch all of her toys. It was like she needed to make sure none of them had run away while she was gone. It was cute.
Today she is still retracting some, especially when she sleeps. She still sounds a little like Darth Vader. You can tell where Jilli is right now... just follow the breathing. I am still suctioning her nose. She wants the end to go in her mouth and not her nose so she keeps getting mad. She is so goofy sometimes. Right now she is asleep on my chest. It is hard to explain to a 15mo old that they need to pace themselves. She will want to play and do things and then just crash. She will slowly build up to being her bouncy self again.

While we were in the hospital we talked about how her ped wanted us to see genetics again so that we could try to figure out why Jillian gets so sick. I called central scheduling Friday and they said that genetics is reworking their schedule and they would leave a message that I would like an appointment. The doctors inpatient said they would try to help us get an appointment quicker. They called and got the same answer and left a message that someone really needs to call us. Hopefully between me calling, GI making a referral and the floor doctor calling, we will get an appointment set up.
Yesterday I also got a call from the GI clinic about her repeat of the PH probe test. They wanted to do it on April 8th, however I got them to agree to do it April 10th because then we have the weekend for her to bounce back after the test so I will only need to take 2 days off of work that week instead of more. I try hard to take as few days off as possible,  but it is hard with Jilli.
Jillian's ped also called me in the morning yesterday after she got into work and got a note saying she had been in the ER on Sunday. She called to see what was going on. I love that her ped is so concerned about her and calls me as soon as she finds out something is wrong so that she can be a part of the team. She brought up the fact that Jillian got a shot last Wednesday. She said that scientifically Jillian should not be getting sick a few days after getting a shot but it just keeps happening and that we cant ignore that. She said that the goal for right then was to getting Jillian better but that we would talk more once Jillian was out. She said that she wanted Jillian to see her after she got out and to give Jillian a big hug from her. 
Birth to 3 also called while we were there and set up the appointment to do her eval. They are going to come at the end of this week while she is home to observe her. While Jillian is not functioning currently at 100% go mode, I think she will still show them enough so they can make a plan. Most of those eval visits have just been a lot of me talking to them anyhow so she can just sit and cuddle while we take care of all that stuff.

Thank you for all of the prayers the past few days. They were greatly appreciate! We go to see her ped tomorrow at 10:30. I'll update again after that.

This is how Jillian lays while in an elevated crib

Looking at her friends with grandma

Reading a book. This is one of her favorite things to do

Look! i figured out how to get my gown off!

And your welcome home gift is.... a neb!

Look at her new dino mask her daddy got for her.

The ER, the clinic, the home

Sunday:
Sunday mornings bring some lounging time at my parents house before we have to leave for church. Time to read the paper and the sale ads. Jillian and I were moving a little faster then normal because Brent had spent the night at home after moving Dan in and was coming in early to get breakfast with Jillian and I. Around 9am I stopped Jillian's pump to give her meds. Connect the water syringe, push, nothing moves, push harder, nothing moves, give it everything, water sprays at me... Clogged line! We try all the tricks and then Brent gets there. He tries a few times and then we decide its clogged and we are not going to be able to unclog it. We throw some stuff in the car (forgetting my pump parts however, but we remembered my pump), left my car and most of my stuff at my parents and hit the road. You make good time at 9:40 on a Sunday morning.
Made it to the ER and they were not busy at all. Infact we got a close parking spot. If you have ever been to the children's ER you know it is impressive to get a parking spot at all in the ER lot. Got checked in and they took us right to a room. Dr and nurses came in and looked at her. They decided they would try club soda because the carbonation can sometimes get it unclogged. We waited for the soda to come up from the kitchen and then tried it. Waited a hour to give it sit time and then tried again. Still no luck moving anything in, but people were getting showers of any liquid we tried. Jillian was being such a trooper! She was smiling for everyone and being a ham. She did not like it when they would try to plunger the tube and it seamed like that hurt her, but as long as people kept their hands off the tube she was happy! I love that about her. Around 3pm they gave up trying and paged the interventional radiologist to come in. We were lucky because we have always been told if it clogged on the weekend we were stuck in the hospital til Monday because the radiologist does not work on the weekends, however he came in on Sunday! Normally when they place an NJ tube there are a lot of people in the room, but since it was a Sunday they only called in the radiologist and a lab tech, thus meaning they needed more hands to be able to place the tube then they had on staff. So Brent suited up in a zebra print led vest and white paper jumpsuit and joined in the "fun." Normally on a weekday they have parents wait in the waiting room, but today there was no one in the tech room so I got to hang out there and watch the screen of her insides as they placed the tube. It took about a half hour of her screaming for the tube to be placed but at last it was over. When they handed her to me so Brent could get undressed she grabbed on like never before. We went back to the room and they had us do the first 15ml of her feed to make sure it worked and then let us go home a little after 5. We were exhausted.
 My parents packed up all of our stuff from their house and drove my car out to our house and brought us dinner. It was so nice to get to bed!

Monday:
Jillian and I hung out during the day. We ran to Target and Walmart, one of her favorite things to do! At night Jaime and Jason came over for dinner and we all celebrated Jaime's birthday. It was a lot of fun!We are looking at getting Jillian a special kind of belt that will go under her clothes to hold the extra tubing coming out of her tummy after surgery. We found a company that looks to have really nice ones at a good price and hundreds of fabric options. Jaime and I spent a little bit of time picking out what fabric we thought would look best. We also were picking out fabric for these little disks that you put around the tube that help soak up any drainage. She is going to have a styling GJ site :)

Tuesday:
The day started with a trip back to Children's but this one was planned. At this point we should just own a house there since we have been there three separate days in one week. This time it was to see the genetics department. We caught them up on what is going on with Jillian. She has been doing this weird thing lately where we can not get her attention and she looks blank. You can get up close to her and make faces and be a goof and she will not look at you. You can make loud noises (brent dropped a pan) or call her name and she does not move. It lasts for a few minutes at a time. They are concerned about possible absent seizures and are referring us to neurology. They also want us to check in with audiology to make sure her ears are still good. They said that I need to call central scheduling for both appointments and that neurology is backed up. They said she does not need to go see them again for a year unless things change. They said that normally someone with just a feeding issue they would dismiss but with her other things (she still does not roll over) they do not feel comfortable doing that.
After the appointment we stopped at the mall for lunch and then went over to Buy Buy Baby. We were looking around and noticed 2 of the next carseat I want for Jillian sitting in the clearance section. I am a big person on research when it comes to carseats and all baby products. It started when my like brother Howard was born. I wanted to buy just the right gift (I was in middle school) so I started researching. Well between the time of Howard and Jillian I still loved researching baby products. I am very picky in this area. Car seats for me are no different and I have spent a lot of time researching what one to buy when Jillian outgrows her's soon, so when I noticed 2 of the one I wanted in the clearance section I was really happy. I looked all over the boxes which where kinda beaten up and could not find a price. I then found an employee and asked them about the car seat price and they looked at me like I was crazy talking about car seats in the clearance section. They looked at them and then asked around to find out that they had just been set there hours before when someone was stocking shelves and no one put them away. Bummer! With the condition of the boxes I doubt they will sell them for full price, but they were not willing to give them to me at any discount for the messed up boxes that day. I then looked at the car seat mirrors, the reason for the trip and they were way overpriced so we left.
Next stop was Babies R Us where I knew they had a car seat mirror for a better price. Jillian has only been in Brent's car a few times but one of those was this weekend on the trip to the hospital and we noticed we did not have a mirror in there to see her in the back seat and that was a pain. I wanted a new mirror for my car that was lighted and we would put my plain mirror in Brent's car. When Jillian starts screaming it is so nice to be able to look back and see if she is screaming because she is a baby or if she is pulling on the tube and about to take it out. I walked all around the  store and was only finding a plain mirror or one that lit up if Jillian touched it, and that would not work because how am I going to convince a 6 month old who is screaming to turn on a light so I can make sure she is not pulling her tube out. I figured I would just get the plain one again. I stopped at a clearance rack on my way out and noticed that tucked behind everything was the lighted mirror that I wanted on clearance $10 cheaper then Buy Buy Baby had it! I grabbed it and checked out. When I went to pay for it another $4 came off plus Jillian had a gift card! I love a good bargain!
We then hit the road before Milwaukee traffic got too icky and came home. We had Tacos for dinner and we all hung out. Jillian took a 15ml bottle and puked a large portion back. She showed us how good she is getting at sitting and we had fun playing on the floor and reading books before bed.

Wednesday:
Jillian was up a few times during the night moaning and it continued into the morning. Eventually I just got both of us up. I got her dressed and gave her meds and then she fell back to sleep. I figured I would get some of the clothes cleaned out of my closet while she slept. I had to wake her eventually so we could go to work.
At night she was kind of fussy. She did not poop all day so I am not sure if that was the problem. She is all messed up again after missing Sunday's laxative. She also has buds for 2 more teeth. Im not sure what the deal was but she would be playing for a few minutes and then scream.  Brent was out with a friend but Dan was a huge help! He got her meds for me when she was screaming and got me a rag when she puked 1/2 of her 15ml bottle up. She did find it a fun game for a few minutes to be sitting and playing and lift her legs and fall  over. I was working on ordering something online and would grab her and lesson the fall. She thought this was so funny until one time I was not as quick. She was on a thick blanket on a rug so I knew she was fine, I think it just stunned her. Brent got home around 10 and she was wide awake. He took her for a little bit so I could get a couple of things done quick. We put her to bed sometime after 10:30 and she still fought us. We were up multiple times during the night again with her fussing. Not sure what this is all about... the mysteries of Jillian.

Thursday:
She slept and fussed off and on all morning. I gave her extra laxatives since she had not pooped in a few days and I figured it was making her belly hurt. She spent the morning playing on the floor naked because I figured when the poop came it would come with force. It finally came around noon and did not have as much force as I was expecting but it did smell like a skunk was loose in the house. Alumentum does some bad stuff to the air when it comes out. I spent part of the morning trying to make dr appointments. I got the audiologist appointment scheduled for July 9th. I tried to schedule the neurology appointment but she has to be referred to them first and genetics did not do a referral yet so I sent them a message letting them know we needed the referral. Jillian thought the hold music was funny while I bounced between all the people. She is so goofy sometimes like how she just fell asleep on a book while doing tummy time today.

Surgery has been set for my birthday, July 18th. We wish it was sooner but glad we dont have to wait too long. Day surgery is suppose to be calling me with the instructions for surgery prep. I guess birthdays are just the time for her to be in this year since she was in for Uncle Seth's, Aunt Jaime's and now me. PS Jillian, we can make other plans for ur birthday :)

HOME!

Jillian was up a few times last night whining and coughing. We got a lovely wake up call though at 5:50 this morning (she was up from 4-4:30). I woke up to Jillian out of her bouncer and in her crib, her pulse ox monitor on the bouncer and someone I had never met standing over my child. This is not the way any mom wants to wake up! The unknown person introduced themselves and told her she was there to draw blood... at 5:50 in the morning! I know they don't sleep at the hour however I had finally gotten my kid back to sleep and myself. After being poked Jillian decided it was time to be up for the day...
The first doctor came in and asked me what my goal was for going home. I said that I was not taking her home while her our plan for feeding her included something she was choking on without a plan to get the choking to stop. So it was decided that she would not get any milk mouth so she would not choke.
Rounds started and they decided we would try two 15ml water bottles again today. She also got another dose of laxative because she still is not pooping right. They briefly talked about switching her to Enifamil AR, but the dietitian said that was not a good idea. I have a milk allergy so I am dairy limited and Jillian is on Alumentim which is for kiddos with allergies so it has milk broken down differently. AR is milk based and they don't want to rock the boat and move to something that has more dairy in it just in case it is a problem. After round's Brent's mom came to visit Jillian and I for a little but. 
Case management came and visited us. They called our DME (direct medical supply) and had it arranged so we will get NJ supplies now. She also called our home pharmacy with our insurance company to let them know that Jillian grew (YEAH!) and her and her dose of antacid needed to change.
The dietitian came back and asked when and why we switched to 24cal milk. I told her it was switched when we were admitted and I have no idea why. She said our current amount of food per day is significantly more then when we came in and that is why we have been seeing the amazing weight gain (plus she is not letting any of it go!)
I then had the joy of getting all of our things into the car. It took me two trips without Jillian first. Then I came back up and signed the discharge papers. On our way out we had to stop back at the GI clinic to have Jillian  weighted on the same scale she was weighed on last Friday. Her weight was 13lb!!!!!!
Jillian's swabs came back negative for any nasty viral infections so she just has a run of the mill upper respiratory junk.
We now have follow ups to do! We see one of her pediatrician's partners this Friday to check on her upper respatory junk. We see her pediatrician next Wednesday for a weight check and follow up. We follow up with GI next Friday for a follow up and our genetics appointment was set up for June. This momma is going to be running :)
Tonight we have been trying to adjust to life with an attachment. I think this next 24 hours will be the hardest.