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!

There and back and there and back

As I got into my van this morning I looked at my gas gauge puzzled... why was it that low? I don't remember it being that low. It should not be that low after the last time I filled it... until I remembered that we made an unplanned trip to Children's and believe it or not folks, it takes gas to get your car there. And today I was getting into my car to drive there again, and imagine this, by the time I pulled my car into the parking garage the little lite saying I needed gas was glowing. (no worries, my van can go a LONG way with that little lite on, but I have a common gas station that I stop at on my way home from Children's)

Wednesday Jillian's teacher told me she had been kinda fussy and was acting a little refluxy. I was a little concerned, however we had just finished a 5 day trail of cereal Sunday night and she was still dealing with the cough from that so I just figured she was not feeling great. I felt yucky on Wednesday, so when we got home from work I set her on the floor to play and I laid down on the couch while Brent worked on dinner.
While dinner was cooking Brent came in to see Jillian. He picked her up and he and I were talking about how I felt yucky. He said maybe I should take Thursday off of work and I told him I was not that bad, plus it was picture day, and the fullest day of my class all week, and I just could not do that to all of them. Just as I finished saying that Brent started feeling around Jillian's tummy because something did not feel right. She was wearing a thick fleece one piece outfit and it was wet. He figured she had popped her g port open so he opened up her clothes and then got a very worried look on  his face. I looked at her (at an odd angle) and could tell something was not right, but I was not sure what. We took her clothes off to discover that the J portion of her tube was sticking about 2 inches out farther then it is suppose to and was not longer connected to her G tube. That wetness... it was caused from her tummy leaking all over the place out of the g port that we now could not close because the j port is what is at the end of the tube. We took her to her room, changed her clothes, wrapped the end of the g tube in gauze (to soak up drainage and keep the j tube where it was), and packed our bags. We hit the road and made good time since we left Genoa City around 6:30pm.

We got into the ER and checked in. They took a look at her chart at the check in counter and sent us in right away with the triage nurse (we skipped the waiting room portion). While we were doing her vitals people kept popping in because the computer did not have an option for J portion of of GJ tube, so it was put in a g tube out. It is typically a quick fix if a normal g tube is out and would have been something a nurse could have done quickly for us (if you have a button g tube you can  change them at home). However everyone had that disappointed, "I was not able to fix it" look as they walked out of the triage room. We got taken to a room right from triage. The nurse came in and looked and it and not too long after a med student came in and then the doctor. They sent her for an x-ray to see where the end of the tube currently was sitting. After a while they came back and said it was in the 1st part of her intestine (suppose to be in the 2nd) but the good news was that it was not in her tummy. They said there was a possibility that we could have it fixed tonight because there was a radiology fellow who might be willing to give in a try to just push it the rest of the way back in under the fluoroscope, he just needed to talk to his attending and look at the x-ray more. After a while the dr came in and said he the fellow was willing to try it. We could tell that the tube had continued to move out little by little but we were all hopeful this would work.  A little bit later someone from radiology came and got us (around 10pm). We took Jillian in and laid her down on the table. They were prepping all of the dies and such. They put the vests on us and then went to look at Jillian's tube. I looked down and noticed the end of the tube was now on the table. There was a moment of defeat that we all just looked at the end of the tube. It had to wait to fall out until we got all the go ahead for the try. We knew a fellow could not place a J tube so we knew this meant trying to put the tube back in that night was over. They attached a diaper to the end of the leaking g tube to catch all of the tummy juice that was flowing out (and smelling really BAD) We were taken back to the ER.

We then waited and waited... after almost 2 hours the doctor walked in. She asked if we had see radiology. We told her yes and what happened. Apparently she had been waiting for a call back from them. Since we could not get the j tube back in tonight and she needed fluids they were going to have to put an IV in and admit her until she could get into IR in the morning.
A little after midnight two nurses came in with the supplies to start the IV. We asked if they could do her foot if possible because she uses her hands so much. They found a vain in her foot and gave it a try... no luck! They then tried her arm. After digging and digging they gave up on that spot too. The two nurses walked out in-search of someone else to try. Our nurse and a new nurse walked in. The new nurse looked her over and found a vein and tried... no luck again. The new nurse left to find another nurse. This nurse brought in a little light (it helps them to see the veins) and looked all over her. They tried in her other foot... no luck! They then tried her hand... LUCK! After 4 nurses and 5 needles and 40 minutes we had an IV started. Now we just had to wait for a room for her. A little after 1am someone from transport came and took us to a room on 10 West.

We got settled into a room and the nurse came in and we started with all of the admitting questions. Brent went down and moved out car from the ER lot to the parking garage. While we were answering the standard questions a med student came in their round of questions. By the time we answered the nurse's questions, visited with two doctors and got everything that we needed it was close to 3am. I ran down to Cafe West to get a snack and then we all went to bed around 3:30.
We woke up at 6:30 to the first of the "scouts" (med students) doing their checks before rounds. Jillian and I curled up in the chair and cuddled til Brent got up around 7:30. Then we all curled up on the couch and watched TV. Around 7:30 a nursing student came in and did Jillian's vitals. Close to 9 her nurse and the nursing student came in and said that IR was ready for us now. We waited for transport and went down. The nursing student went with us as Jilli was her only kiddo. We got down to IR and they asked us about what happened. We explained and then handed Jillian over to them and Brent and I went into the waiting room. While we were waiting one of the IR nurses came over and had us go with her to a different room. Apparently we were suppose to have been given a teaching sheet and emergency kit when Jillian got her GJ tube however we never did. They gave us an after hours number to call if this ever happened again so that we will not have to go through the ER (opposite of what we have always been told). That way, if it has to wait until the next day to be put back in, IR can just admit us over the phone. They also gave us an emergency kit for if the clear g portion of the tube ever comes out (BAD). We can stick a catheter (yes one normally used in the bladder) into the hole a little bit and inflate it with water so it will keep the hole open until we get to the hospital. G tubes need to be replaced quickly after coming out because the hole will start to close (not to mention the stuff that can flow in and out of the hole without a tube in it). We then went back to the waiting room.

They brought Jillian out to us. You could tell she had given them a good fight by the look on her face. They then told the nursing student to bring us back up. It was a good thing we were with the nursing student though because she did not know how to get back up to the floor from where we were. We showed her the way and got back up. We then had to wait for the orders to be able to use the tube again. While we waited for that my parents came up. They had a struggle getting up to the room though. Apparently security was being hard that day (there had just been a missing person in the hospital) and despite security calling up the the room and talking to Brent, they would not let them come up until our nurse oked it. She looked in the computer and my parent's names were on the list... all of the lists we had ever made during our many visits. No one could figure out why they would not let them up. Eventually they let them come after several people on the floor working on it.
Shortly after mom and dad got to the room the nurse and nursing student came in with Jillian's meds and milk. The nursing student had never used a feeding tube so we gave the go ahead for teaching time. At this point the tube is our normal so why not let someone new get to learn on it. We got all the meds in and started on the feeds.

Mom and dad sent us down to grab some food and while we were walking back the GI team that was on stopped in. We met them as they were leaving and they told us we could go home soon! We started to pack our things up. The nurse brought in our discharge papers and the med student took out the IV. We were free to go. We leaded up the car and left around 12:40.
We got home just in time for Brent to do a conference call. 

As the afternoon went on we were starting to get worried. Jillian was still not releasing fluids out of her body. We changed her diaper Wednesday night before we left for the hospital (6:45pm) and she had a barely damp diaper at 6:30am Thursday. We changed her diaper right before she went down to get the tube changed and it had a very little amount in it.... and then nothing. It was now almost 5pm and she had a dry diaper. The discharge papers said to bring her back if she had a dry diaper for 8 or more hours and we were hitting that point. Brent and I decided we would give it a little longer. Just before 5 I heard a rumble sound. Jillian and I had been cuddling on the couch so I lifted her off my chest and as I lifted her my arm that had been under her butt still felt warm... poop! When she is in the hospital they have to give her 3ml of laxatives or no laxatives because nurses are not given the discretion to decided if her poop the day before was good or not, so it is full dose or no dose. She needed laxatives to help start her body back up so she got it all and the poop came out like it! Brent came and grabbed her while I took my hoody off and wrapped up the poopy blanket. We decided there was so much poop it was just best for a bath. She got all cleaned off and then we cuddled some more. Since then she is peeing better. Still not completely normal yet but getting better.

This morning we woke up early and got back in the car and drove to Children's again. This time it was a planned visit with GI. We got her weight 9.5kg (we need 10 for the button) and headed to the room. A new nutritionist came in (the new one we met last time is now on maternity leave) and gave her the monthly update. She said she would send a script over the home delivery company for the formula (we only have a couple weeks left of breast milk) and a new script for the pump explicitly stating why we need it (our insurance company has decided they think she is not medically necessary to have a feeding pump thus they are not going to pay for it... since June!). Our nurse was back this month (YEAH!) so we filled her in on everything. Then our old dietitian came in the room. She had seen Jillian was in the clinic and just had to see her so she came and played with her until the doctor came in.

We talked about how the trial with food had not gone well and how we stopped it at the request of the feeding therapist. I told her how the cereal was still sitting there 12 hours later. She said that the feeding therapist said she was really impressed with Jillian's skills even through all of this. The doctor wants us to try adding a 10ml bottle of water in the mornings again to help keep her oral motor skills... we will see how that goes.
The dr said that she was going to consult the head of their motility department about her case. She said that this might all improve once she starts walking because gravity can help, however Jillian is kept upright all of the time currently and has been all of her life. She said that if she starts walking and things don't improve, that is the sign that we are defiantly in the this for the long hall. She said if things are not better by 18mo then we are going to have to look at more testing again. She said that we would need to think about our options at that point, including doing the nession. She said that she did not see a real problem with that because Jillian does not have a mitochondrial disorder, and I stopped her and reminded her that we still had not completely ruled that out because of the family history with mitochondrial disorders. We talked about the family history again (something we had not done in a long time) and I could see the wheels turning. She then took a look at Jillian and said she would see us back in December. While I was getting Jillian dressed the nurse came in and said that they want us to stop in for a weight check in November since she will be switching to formula and they dont want there to be a big weight issue that arises and no one catches it because she is not weighted for so long. The dietitian then stopped in and told us she was working on the scrips and they would be sent right over.

Jillian and I then headed home. We stopped and got gas and ran a few errands. This afternoon I have gotten to talk with the insurance company and two hospital system's billing departments, but best of all, while I typed this I got to cuddle with my baby girl!
We also have gotten a few more sets of eyes though all of this to look at her random rash (no one knows what it is) and several sets of ears to listen to her cough that developed from the food. 
Well, now she has woken up, thus thinking she can help type, so I better go before she takes over and this becomes unreadable!

Its a GI problem

Today Jillian and I went up to Children's clinic on Moorland road to visit a feeding therapist for an evaluation. She had not had a feeding evaluation since she was inpatient in April so it was time to look at it again.

When we first went in we went over the Jilli health history. She looked exhausted just hearing it :) Then we talked about what Jillian does for taking food by mouth (1 bottle once a day of 15ml breast milk). She said she wanted to see how Jillian did with a spoon and with breast milk on a spoon.
Before we started with the spoon the therapist first tried with putting her fingers in Jillian's mouth. She was receptive to it. She felt around her mouth a few times and tried a few different things. She said that her oral motor skills looked good for never having finger food in her mouth. The only thing she did not do was move her tongue to the side of her moth that the finger was on, instead she always left it in the middle of her mouth. She said that was not a big deal though because currently Jillian had never needed to use that skill so her not doing it was not surprising.She said this showed Jillian was not ready for any finger foods like puffs.
 I had brought with one of the spoons that we have at home that she plays with while we eat dinner. The therapist put 5ml of milk in a cup that she spooned out to give to Jilli. At first she did an amazing job of eating the milk off of the spoon. She would put her top lip down and take it like she had always been eating that way. The therapist was really impressed.
Then She mixed a little bit of rice cereal with 10ml of milk. Jillian took this off of the spoon nicely too. She became less coordinated with it as she went on but for her first time spoon eating she did great. The therapist said she was really impressed and was not expecting that at all. Also as eating went on she went farther and farther between bites and would put her passy in between bites, which is Jillian's signal that it hurt, but she kept on trying her best. After she finished eating we let her sit in the high chair and we worked on updating things about her eating into the computer. This is when Jillian started to have a hard time. She started to reflux about 3 minutes after she finished eating. She was sucking that passy 100 sucks a minute, her arms and legs became stiff, she was bright red and she would intermittently yell out. It would be bad for a few minutes at a time and then she would calm again. She was trying to rip off her bib so we took it off for her and let her hold it. She wrestled with the bib like it had just tried to steal something from her. You could her hear refluxing, gulping, and her vocal cords sounded horse. Her breathing became more labored and varied from fast to slow. 
After about 20 minutes we decided it was time to show off her bottle skills. She spit out her passy like she is suppose to when I brought the bottle to her. She would not hold it but did a great job drinking it, in about 45seconds, which is a normal time for 15ml of milk. After the bottle was over I sat her up. After about a minute she started to reflux. It was like trying to hold an unhappy monkey. She was all over the place and very hard to hold because she was trying to get comfortable. She was sucking on her passy a lot, making swallowing sounds, and throwing her head back. From they was she looked at times you would have thought the ceiling was very interesting.
The therapist and I then talked. She said it pains her to see how much pain Jillian is in when she eats. That she has great oral motor skills and defiantly does not have an oral aversion. She then said she was unsure of the next steps. That a part of her almost said to not have Jillian eat by mouth anymore because she was worried that one of these days an oral aversion would form. That was the eating by mouth worth it? That because she has such great foundational skills that if she was able to eat later on without pain that it would be a lot easier to regain these skills since she already has them, then to fix an aversion problem. We decided that since for right now she is still willingly taking the food that we would keep going with it. We decided that we would try spoon feeding her 5ml of plain milk and then 10ml of the milk mixed with rice cereal for the next week to see if it made any difference. It did not in clinic today (it was almost a worse reaction) but that we would try it. She suggested staying with the 15ml because that is what has worked and we don't want to up the volume and change the form at the same time because then how will we know what went wrong if something goes wrong.
We also decided that staying with the stage 1 bottle nipples were best because she is sucking them perfectly and we don't want to mess with something that is working. She said that for now it is best to stay with just the milk and not add other things (except the rice), especially if we might be taking food away if she starts to struggle with the pain more and because we dont know of any possible allergies and we don't want to add problems. She said that Jillian is not a kid that we would be working on taking the passy away from anytime soon because it is a coping method and is helping her in dealing with the pain and in keeping oral motor skills.
She said that we did not need to come and see her again anytime soon but she is a resource for us and is here to help us in any way. She said to let her know how the next week with the rice goes. She said she would put a call into the GI about the visit.

Overall today would be a middle of the road reflux day. By no means was it her worse, but it showed them what a little taste of Jillian's tummy troubles where like. 

After we finished Jillian and I went across the street to Target to buy rice cereal. While we were there she was not her normal talkative smiley self. She just sat there, dazed.
Once we got home I changed her diaper. She had pooped out of it. She is not pooping out a lot right now but it is coming out with some force behind it causing most of it to be out of the diaper instead of in. While I was cleaning her up I noticed the inside of her g tube looked nasty (its clear) and I had just flushed it with clean water this morning. I hooked up a syringe and vented out 8ml of tummy contents. There looked to be some grains of rice cereal still in there from 11:30 and it was now 2pm. Yummy! I then flushed her with 3ml of clean water. She has been kind off all afternoon. She has been throwing herself around and not wanting to play. She has been having episodes of reflux too.
Also while I was changing her I noticed that her rash is coming back. It is looking better again this afternoon. I'm not sure what these little bumps are. Maybe just another mystery of Jillian. Hmmm....

A little tummy juice with that

Jillian's tummy has been moving SLOWLY the past few days. This is causing more reflux to a kid who has a rash and you can tell overall does not feel 100%. She is handling all of this better then many other kids her age would. 

Tonight she took about 1/2 of her 15ml before she refused to drink more. She took the first 1/2 fine but then she was done. 

Tonight I picked her up and noticed her leg was wet. I then noticed her g port was open. I closed it quick realizing that it was gastric pressure that most likely popped it open. Then I sat down on the couch and something felt wet. I looked at the pillows under me and realized they were soaked. Her stomach contents were on the pillow (ie that bottle she just had mixed with stomach acid... Yummy!) I took the pillows and tossed them in the washer. I guess her tummy just could not handle that bottle tonight. 

Her rash is looking better. It is not gone but better. It still fluctuates throughout the day but it does not start out nearly as bad at this point. Hopefully sometime soon it will leave. 

Her diaper rash is looking better too. Still not all gone but looking soooo much better. I think it is close to leaving. 

We will see what tomorrow brings. Today she and daddy stayed home because neither of them felt good. Hopefully tomorrow is better for them both. 

Ps: I want to make a big shout out to some people who have held our hands and our hearts. Jillian has an amazing fan club and we truly thank the people who stand beside her and us. We were watching how I met your mother tonight and they were talking about the fear of when you have kids you loose your friends but for us it has just brought our true friends (and family) closer. Thank you! 

Itch, itch, itch

I called her dr at 8 this morning and she is out of the office this week so they transferred me to the Waterford clinic. They said the alternet ped had an opening at 10:30. 

We got there and jilli is deffinatly not herself because she would not smile at anyone and normal she finds it her job to brighten everyone's day. 

We got back to the room at she was 21lb  (watch out IR dude, the scale Saturday said 9.5g... Almost to the magical 10g). She had a normal temp. 

The dr came in the room and we talked about the walk in visit. He fixed some of her meds in the computer and he said he did not know why they did not fill the Zyrtec because the book he has says it's ok for over 6mo. 

He then took a look at her belly. Here is what part of it looks like today: (she was moving around a lot so the photo is kinda dark and in the shadow of her tube. It is red in person not brown)  

He was like "wow, that's a rash!" He looked at it a little bit. He then evaxmined her lymph nods and they were a little swollen. He look in her ears and they better. He said that he is not sure what this is. That it does not look like anything (allergies, eczema, chicken pox, ect). He said we can continue to give her the Benadryl and antibiotic incase one of them will help. 

She has also developed the runs :( she just keeps poopping out liquid that is ending up everywhere. It is not a lot at a time but it is just so loose. Her super seat is currently needing a wash from it... 

The dr said he thinks she can go to day care tomorrow because she does have a fever but he can't guarantee it is not contagious because he is not sure what it is. 

She is super fidgety and having a hard time sleeping. She is still coughing today and the dr said she is quite congested. She is also getting 3 teeth in. 

This afternoon I also scheduled her feeding eval. We are doing that next Wednesday the 9th. We will see.   

Bumpity bump bump

Hello rash. We are not sure why you came to visit Jillian. We are not positive what you are, but we know we don't want you staying around. 

Saturday: 

Sunday: 

It is not as bright red but it looks more painful because the large patches just look raw and like they are opening. 

We took her to the walk in yesterday. They said that it is a nonspecific rash... She does have an ear infection that they put her on antibiotics for. They said her throat looked red but tested negative for strep. They also prescribed Zyrtec incase it was an allergic reaction. 

Brent went to pick yup her prescriptions they said they could not fill the Zyrtec because she was too young. The pharmacist called the dr and they agreed on Benadryl in a small dose with the agreement we would be very careful giving it to her. Allergy meds are not to be given to kids before 2 because of some bad side effects that could happen. We are to only give her a little to see if it works. 

You can tell it itches her badly.Dispite  the rash on her abdomin her diaper rash is looking better. We are still putting yeast infection cream on it. 

You can tell she is not feeling great today. She fought a nap until after 3. She has been coughing a lot. While drinking her bottle tonight she kept gasping for air and refused to finish it. However if you were to meet Jillian for the first time today you would think she was fine. She is still pretty happy (not as smily) and kind of clingy. But she takes everything in stride. She is one strong girl! Our little fighter!