Rare disease Day 2018

While we still don't have a name for what is going on with the girls I can promise you whatever is going on is RARE!


I was thinking as I was driving today about our journey. Rare is definitely a way to describe it. We have explored so many different ideas over the years (Jilli's first hospital stay they thought she had a brain tumor and were unsure she was going to leave the hospital...thankfully that was not the case) and so many of them have dead ended. Today I sent a message to genetics asking if they have sent Lydia's blood to the lab yet. Hopefully our next step is NIH. It has been quite the journey!

The other thought that came to mind was community. From online groups, to working with Tubie Friends, to rmh... community is something I am thankful for on this journey and something that I would encourage anyone on a rare journey to seek out.

This wasn't what I thought of when I pictured a family while pregnant with Jillian, however we have learned to embrace the rare. We see how it has shaped them as people. Jilli was asking to Target while in the hospital and I asked her why she wanted to go to Target and said said "so I can buy toys for the magic room at RMH to make other kids happy." I see how this journey has shaped their hearts.

So what does rare mean to us:
It means the most frequent measuring tools in our house are the 4 cup measuring cup (water to make formula) and the 1/2t (Jilli's salt)
It means our counter and sink are both full of syringes
It means there is a section of our cupboards and fridge just for medications
It means oxygen lines across the living room
It means medical supplies lining our hallway and our bedroom
It means oxygen tanks in our front entry
It means special chairs inside and outside of the house
It means getting good at reading medical reports
It means SO MUCH paperwork
It means seeing doctors more then most people
It means a diaper bag full of medical supplies

But what it doesn't change is LOVE

When I was driving today that song Thrive by Switchfoot came on. The lyrics say "A steering wheel don't mean you can drive, A warm body don't mean I'm alive, I wanna thrive not just survive" And another thing I can promise you is that my girls thrive. They don't just survive. They thrive! They are amazing wonderful girls who serve a purpose in this world. I know often in this American view of what life is (where our self worth is tied to sports, jobs, money, fame) that people with health needs don't fit into the picture of thriving but my girls are thriving! Jon Foreman's song Terminal says "Some folks die in offices one day at a time, They could live a hundred years but their soul's already dying, Don't let your spirit die before your body does, We're terminal, we're terminal, We are, we are the living souls, With terminal hearts, terminal parts, Flickering like candles, shimmering like candles
We're fatally flawed" And I see how these girls and our family have a different view on life because of the rare... and that causes for us to search to not just get tied up in yelling at traffic and angry at fading things, but to use this life to really thrive, even if that looks different.   



Last night and today I have been messaging with our amazing GI doctor about another idea she had some something off the wall to test... all tests at this point are for "off the wall" things. We are going to try a month without erythromycin because it call elevate her one urine test sometimes, and it is also good to every once and a while to make sure a med is still needed. Jilli has been on this med for 4 years. When she went on it there was still possible thought of oral eating but we are no longer at that place and now we use it to lesson g draining however she gets less then 30ml out a night (many nights closer to 5-10ml) and we don't see a difference between the nights that she is on it and the week a month she is off it, so we are going to see what a month off does. If her drainage goes up then we can talk about going back on. This doctor was also in our Nelson's meeting so we talked a bit about that too.

Home

Its always good to get home and always overwhelming.

We got home mid afternoon Saturday after stopping for coffee and french fries :) My mom came up and helped us get everything back since we had gotten a med supply delivery up there, had Jilli's walker, wheelchair and special chair, stroller and a weeks worth of stuff.

We got home and started working on getting things put away. We cleaned out the fridge. For some reason that is always when everything hits me, when I see the milk that has gone bad or something else along those lines.

One of my mom's coworkers gave her a pan of KFC chicken so we had that for dinner.

Sunday Brent went to church and then grocery shopping. I stayed home with the kids and worked on helping Jilli stand and she walked to her play area and played playmobil for a while. Once he got home I took a nap. It has been months since I took a nap but I didn't have much of a choice, my body was exhausted! Sunday Jilli spent a good amount of time playing iPad and such but by today iPads are back up and we are working on things to get her stronger.

Last night when I went up to bed I could really hear Jilli's stridor. There has been some question for a while if she still had one and last night was the answer. I was laying there thinking how it had been a while since we had heard it at night, probably about a year and then I remembered that we haven't really heard it since she went on night time oxygen so I went over and checked her oxygen line and there was a crack in it. She was still getting some oxygen but not enough to keep the stridor at bay. I fixed the tubing and the extra noise went away.

Today we have been working on cleaning the house and putting things away.

Jilli had school this morning. I did things without cutting since writing is work right now but with help she finished all the work I had planned for her. She also played in her play area for a while and now is playing playdough. We are working on standing and walking but she is rocking pushing herself and then resting for a little while. This is one of those areas where I think myself having muscle and connective tissue issues help, I see how important it is to work on moving. Growing up I would whine and complain about having to get back to school and such after a bad asthma attack but I see now that I am so grateful that my parents carefully pushed me, they let me have breaks but they set expectations and for that I am grateful because I don't use my health stuff as an excuse, my body hurts most days but I work with my body to do what I can. Jilli is back to putting her shirt on by herself and just needs help standing to put her pants on. We are still doing lay down diapers but by goal is by the end of the week is to have her back to changing her pee diapers and have her in stand up diapers. She grumbles about some of it, but I am proud of how hard she is working. Our plan is to keep PT at once a week right now and to save going up until a bigger crash. We are still keeping her pulse ox on for another day or too (def for therapy wed) but hope to be off that during the day soon.

I also spoke with our special needs team this morning. We talked about some of the things we will do differently next time (taper the steroids!) and made sure her med list is good after the hospital say (it frequently gets messy after a stay).

Lydia is happy to be back home although she misses Laura (one of the managers at RMH). She is the hurricane through the living room (she didn't get the cleaning memo apparently lol) and is loving playing with all her toys (and trying hard to get back into the crayons... what is it with this kid and trying to eat crayons all the time!?).

March is apparently going to be the month of paperwork! While we were gone Lydia's Katie Beckett paperwork came in the mail. I just got a call that Jilli reached the top of the Long Term Support Waver wait list (we have been waiting since she was 18mo) so they are sending me the paperwork for that and someone is coming to our house in a few weeks for that meeting. All the fist round of paperwork is done for Lydia for NIH, I just need to finish Lydia's and then get the letter from the doctor, once that is accepted they will likely send more paperwork. If by the end of March my hand is cramping and my brain looks fried its paperwork overload lol! 

Saturday at RMH

Another Hospital Stay

What is February without hospital time?! Jilli doesn't know.

Last Thursday Jilli woke up with that croupy cough but no other upper respiratory symptoms so we started doing nebs and prednisone (30mg). Her body was tired but she was still playing and sitting and walking some. I was keeping a close eye on her but not worried. Lydia was also doing nebs but that is because she tried to eat a crayon and her lungs did not like having crayon in them.

Saturday morning my mom came over so I could shower (that hadn't happened in days with both kids needing nebs). She walked in with Valentines day gifts, she got Jilli an Our Generation set she has been asking for and Jilli looked at it and said thank you and set it aside because she was resting. By mid afternoon her pulse ox resting was at 95 (while on oxygen) and we tried to get her to sit and her pulse ox tanked and she couldn't do it. I called our Special Needs team and let them know we were headed to the ER. I am so thankful for them because they are able to call ahead to the ER and let them know we are coming and put us on the list so we are able to be taken back quickly and avoid germs.
We got to the ER and they got us back to a room. They got her IV started and did a chest x-ray. The med student came in and said that he talked to special needs and that unless I felt otherwise they were going to admit her. About 9:30 at night we got up to the floor. We were hoping since we met with pharmacy in the ER that the med process would be faster... wrong! It took until 2am ish for all her 10pm meds to make it to the room. It was a long night! The med student came in and took her history, I felt bad for him because he was so confused. The fellow came in and I pushed for them to run the one urine test, at first they wanted to wait until morning however this test is time sensitive so I ended up getting them to agree to run it. After 2:30am I was finally able to go to bed. I am glad I stayed up thought because our nurse almost fed her into the g instead of the j, this is why I am on top of everything in the hospital.
Saturday morning we were told we were on a new team at the hospital, the silver team. At first I was a little unsure, we were on a different floor (9) because ours was full and they put us on a different team, but it ended up working out really well. The attending on the silver team Sunday and Monday is the sister to my doctor, my very smart think of things other people miss doctor. She had been on our Nelson Team meeting. The Nelson Team is a group of all the top doctors at CHW that sit down in a room to discuss cases that the hospital is struggling to figure out. Her having been on our Nelson Team means that she had a full history of my girls which is such a nice place to start. Sunday we spent most of the day just watching her rest. They did nebs every 4hr and continued the prednisone and IV fluids at 50. Brent's parents also came up to see her.
Sunday we also had another visitor, our special needs doctor. He came in to meet with me about the Nelson's meeting. The Nelson group is going to look to see if there are any pieces of Jilli's leg muscle still in the lab, if so they are going to run one test on it but it is more of an intrigue test then a diagnostic test. The Nelson Team came to the conclusion that we have reached the end of our diagnostic road at chw. When those words came out of his mouth I felt like the wind had been knocked out of me. He said they are still going to work hard at chw to do all they can to treat the symptoms and support the girls, it is just that they physically dont have any more tests that they can run. He said that at this point he is suggesting we apply to the National Institute of Health (NIH). This is a complex process. NIH is the government health research center in Maryland. In the past 8 years they have received 10,000 applications for the program we are trying to get into, they have accepted 750 and have actually seen 700.  The odds of getting in are low! Our special needs doctor has already called someone he knows at NIH and talked to him about our girls. This person is not in charge of if people get accepted but said that if we are accepted that he will make himself the head of our case there. We are currently working on the first round of paperwork. It could be months before we know if we are going to be accepted or not. If we are accepted we need to head out by Washington DC for a while to meet with doctors and run tests. To help prepare things for if we get in chw is going to run Lydia's full exome sequencing. There was some red tape that needed to be delt with to get that to happen but our special needs doctor got through it this week and hopefully Lydia's test is run soon.
Mondays in the hospital after a weekend admission are crazy. From 9:30-1ish I felt like our room was a revolving door between doctors, therapists and nurses. PT was able to get her to sit for a few minutes and OT was able to help her with her hands some. Anytime anyone would come into our room she would pull all her energy together and then after they left she would be exhausted.
Tuesday we had a calmer day. Hospitalists change on Tuesday and we were blessed to get a second one who had been in our Nelson Team meeting. This doctor was really good too. I noticed Monday night that she had not gotten her salt since we had gotten to chw because the nurses thought nutrition was adding it and nutrition thought the nurses were adding it. I brought it up to the team so they knew and they said they would fill out an incident report, its not that I want anyone in trouble but if there is a communication issue of who is suppose to be adding salt then as a hospital that is something they should have a policy for. I appreciated that this doctor wanted to make sure the underlying problem got fixed in the big picture of the hospital. Dance therapy came in and Jilli laid in her bed and they blew bubbles to music to help her with her lungs. Our minister came up and visited with us. School also came to see her for the first time since she is 5 now. She LOVED that. Tuesday night she was able to move her head off the pillow by herself which was a change in the right direction. She was also super emotional, they didn't step down he prednisone so she went from 30mg to 0 and that was really hard on her body. Tuesday night she cried about all sorts of things, the BabiesRus closing in Brookfield, my mom needing to go home, and at one point she didn't even know why she was crying.
Wednesday at rounds I pushed that I wanted PT to come in and get her to stand before we left. I also said that she needed to poop. In all the mess of getting meds in the first night they put her laxatives in wrong so she was not getting enough and on top of that when she has these crashes her intestines slow so she had not pooped since Friday. It took a couple people paging PT but they came in and stood her up for a few seconds. I wish we had our normal hospital PT, this one was timid to work with Jilli (she admitted that). Insurance pays for daily PT in the hospital but only weekly outpatient and she needs frequent PT when this happens so the more we can do in the hospital the better. They also gave her a suppository to help her with poop. She has never has a suppository be so painful! Art Stephan came to see her after it and she tried so hard to do art with him (they were making a mini watermelon out of pencil and an electric eraser) but she got to the point where she was in so much pain that she asked him to leave. School stopped by and dropped a book off for her and Art Holly stopped by to say hello. She ended up pooping some. She had a while where she was writhing in pain. The nurse came in and took out her IV (oh my did that smell, she has dysautonomia and sweats like crazy during these events, the nurse said it was the stinkiest IV she had smelt, the nurse and I threatened to leave Jilli's room, between the poop and the IV it stunk SO bad. We went to sign the discharge papers and noticed that the part about her being discharged to RMH had not shown up on her discharge print out, it was in the computer so the nurse wrote it out for us. Jilli and I then headed to RMH. I had realized I didn't have an RMH key and Brent and Lydia were at Walgreens but thankfully a friend was walking out as we were coming up so she let us in. We said hi to a few staff members and then went to the room for Jilli to rest.
Thursday was spent mainly in the room resting and playing iPad. Jilli went to art therapy but just the work of trying to sit in a chair like a dinning room chair was too much work for her body and her pulse ox dipped.
Friday Jilli had PT. Normally she does 60min of pt but was only able to handle 20min and then got slap happy. That is what happens when Jilli is not getting the oxygen she needs, she gets really silly. We came back to rmh and she rested. Her pulse ox kept dipping. On of the staff members at RMH came to the room to meet with me about a project I am helping RMH with and during that times Jilli's pulse ox dipped three times and she was just sitting on the bed playing ipad. We know this staff member pretty well but its the first time she has been in our room at rmh so it was the first time she saw all of the medical stuff... all the meds and oxygen and it hit her seeing it all together. We had to wait until bed time last night to have her stand again because we needed to get the dips to slow first. She can stand for a minute or so but then she dips into the 80s. Right now the goal is to get her to stand for 10min 3x daily.
This morning we got her to stand for a couple of minutes but her body got too tired and she needed to sit down. We still hopeful to get to go home later today but it will depend on her pulse ox crashes.

Some big thank yous this week:
-My mom drove Jilli and I up to the hospital on Saturday and then spent Saturday night in the hospital with us and helped with the logistics of Lydia on Sunday, Monday and Tuesday. Because of the hospital's flu policy right now Lydia could not go into the hospital so we had to work out having someone with her at rmh at all times. Mom also got a mylar balloon sent up from the gift shop for Jilli and meal tickets for me.
-Annette for getting out mail and feeding our gecko
-Holly and Kirk for letting oxygen get delivered to their house this week and bringing it over to rmh for us and for bringing us dinner.
-Aunt Pam for help with a ride for Brent with work because we only had one car up here.
-My brother and dad for running to our house to get Jilli's special chair and walker.
-Aunt Sandi for the bag she gave Jilli for Christmas full of decorations for her hospital room, Jilli loved having her Christmas tree and pineapple pictures up. Also to Karen and Stacy for the fun hospital gowns. Its the "little" things that make Jilli smile in the hospital which is a big thing to me!
-Our nursing team was awesome. Sunday we had a different nurse every 4 hours, but The rest of the week we had the same nurses and they were great!
-Our one doctor asked me  what I was doing to take care of me in the hospital... in my head I laughed. I live in the hospital where one of the girls is there. I was washing my hair in the bathroom sink until we got back to rmh on Wednesday, so it was finding filling things in the little stuff like watching HGTV (we don't have cable at home so that is a treat) and eating cream of wheat for breakfast.
-Jilli always has some weird thing in the hospital, last time it was sheep, this time she wanted everyone to listen to her knee with the stethoscope... weird I know, but everyone played along and it made vitals easier. 
-To everyone who sent encouraging words, payed for us or called to check in. We really appreciate you!  

Jilli before we left for the hospital

Jilli in the ER

The dazed medicated look

Her Christmas Tree. Before Christmas Jilli was vary worried that if she ended up in the hospital for Christmas she wouldn't have a Christmas tree, so Aunt Sandi gave her a hospital decorations backpack for Christmas and inside was a Christmas tree

I love this picture and it breaks my heart!

That wet spot is sweat. She sweats so much doing these events, we kept having to change her sheets

We hung her Tiny Superhero cape on her IV pole

School in with her

The last night she really wanted to call the nurses station so her nurse told her that she could at 9pm when it was time for meds, she loved it!

My self care in the hospital... cream of wheat.

Playing with her travel Playmobil Hospital

Getting to see my Lydia again... it was a hard week for her with me being gone

Jilli and Nate made a joke book

The House that Love Built

When I first heard that Ronald McDonald House is known as "the house that love build" I thought cute... nice tag line... but I didn't get it then like I do now.

Last night sitting on a bench as we were checking out with Jillian crying and asking me not to make her leave her favorite place. In the elevator she told me she wants to be at rmh, it helps to keep her healthy and is important to her.

When you first hear of Ronald McDonald House you think of a place to sleep in a building connected to the hospital. You think about the convenience of being close to the hospital when your house is located far away... but something you don't think of when you are headed to rmh for the first time is the love.

Having stayed at rmh many times now, my first thought is about the love and the bed is a second thought.

I wish I had the words to explain to you the love inside those walls. The staff who have taken the time to get to know us and spend time with the girls, either playing the trash sorting game with Jilli or making Lydia's infectious laugh come out.  The volunteers who help make the house a home from doing the dishes to taking us to the magic room. Ann and Ken gardening and their hugs after a long day and their love to jump in an share the love of gardening with my kids, Jilli loves gardening because of them, I treasure any moment we are able to spend with Ann and Ken.  The dinners made by outside groups that care about others so they come in and make meals to take that stress off of families. To the expressive therapies and the calm that brings to the girls and the distraction that they bring in the midst of the hard time. The other guest families make the house an amazing place, while sometimes I joke that it is an interesting social experiment having 70 families live in close quarters sharing kitchens and common spaces, the families are a true gift and have become some of our favorite people in the world.

Do you have someplace in the world where you know you just belong? Someplace you feel filled up in even in the midst of hard times?

For us that place in Ronald McDonald House. They support us in the mist of hard times and we are so thankful for them. RMH is so much more then a bed... it is love in action.

To learn more about the House that Love Built click HERE for ways to get involved.

Today for valentines day Jilli and I wore our RMH heart shirts to celibrate the love we feel from rmh

back home

We just spent a few days at rmh.

Sunday we went to church (after digging out of the snow) and then headed to check into rmh. We then met Brent's parents down town for Disney on Ice. We had never been to Disney on Ice before and the girls LOVED it. Lydia was grasping onto the bar in front of her in excitement and Jilli was so excited. After the show we went to dinner and then back to rmh for dance therapy. Lydia got time hanging out with Laura (one of the managers at rmh) which made her very happy.

Monday we dropped off all of the band-aids from the band-aid drive. We collected over 5,000 band aids. Thank you so much to everyone who contributed! After dropping off band-aids we stopped to get coffee at the hospital and then Jilli noticed her med port had opened and there was formula and bile everywhere. We joke that we don;t have to deal with food messes often because its not like our kids eat and make a mess everywhere but this was def a food mess! We had to run back to rmh quick to get her all cleaned up and moved Jilli from the stroller to her wheelchair and Lydia to the ergo since the stroller was now dripping wet. Then we had to run back to get to the appointment on time. I felt like I was a sweaty mess by the time we checked in.

Jilli has urology for the first time and the referral of rehab because she is 5 and not potty trained. I felt like I was walking in blind to this appointment. I am a list person, to the point many of our doctors walk in the room and ask what my list is... but with this appointment I didn't have a list nor did I have any idea what to expect. I was very nervous. We saw the nurse practitioner... she was amazing! She had read Jilli's chart before walking in the room which is HUGE to me. Yes I know all the info in her chart but it means a lot to me when someone looks at the chart before coming into the room. We talked about the fact that we tried potty training with Jilli but it ripped at her self estimate because she doesn't feel when she pees or poops. She is also getting fluid into her body 24hr a day which makes her have to pee more. We talked about how we use hybrid diapers (the huggies easy ups) and as long as its pee Jilli changes her own diapers, we just have to remind her to do it, because she doesn't feel the pee coming out she will be in a puddle before she notices a problem. The NP said we are doing everything right. She complimented Jilli and I repeatedly on how we are doing a great job at everything and how we have taken the right steps to things. She said to not push potty training because expecting her to succeed at that is just mean. If she feels like sitting on the potty sometimes then fine, but that her using the potty is not an expectation (I just want to tell the person from the diaper supply company to shove it after they gave me crap about not putting Jilli on the potty every hour). She said that if Jilli gets a few years older and decides that she no longer wants to wear diapers that we can talk about doing a surgery to make it so she would be able to cath herself through her stomach. This would give Jilli the independence of being able to take care of her urine needs by herself. I had never thought of that as an option. It is not something we are looking into now, but I appreciate that this NP had options for us down the line if wearing diapers becomes an issue for Jilli. Right now if anyone says anything to Jilli about wearing diapers still I kinda go mamma bear on them but I know some day she might want other options. They also said that if Jilli stats having more UTIs (she had several when she was younger but not in the past year or two) that would be another reason to look at the surgery.

I also liked that the NP didn't make me fill out all the paperwork. She said she was sorry they even had given it to me. I have gotten to the point though on that paperwork that I just start writing "see epic" on parts of it lol 

They also wanted to get an ultrasound of her bladder and kidneys so they got that scheduled and we were able to do that while we were up there. Jilli ROCKED the ultra sound. She laid still and held her shirt up. She asked questions about what was on the screen. She did amazing! She had been asking for a balloon from the gift shop (non latex) so after her ultrasound she got to go to the gift shop and pick out a balloon.

I also had a meeting for the CHW run/walk. It was a focus group for team captains. There was 8 people there are we worked on different ways to improve the run/walk. I am really excited for the different things discussed and am excited for the event this year. Being a team captain is a lot of work organizing people and doing all of the fundraising, but it is totally worth it! The run/walk pays for a lot of the things insurance doesn't pay for, but those are some of the biggest things to my kids... art, music and dance therapy in the hospital are paid for with funds raised during the run/walk. Stuff for the run/walk doesn't kick off for a little bit still but I am excited and hopeful this will be our biggest year yet!

While at rmh we also got to do a lot of fun activities. The girls got to see a play put on by the zoo, have music therapy and participate in "kids can cook" where a local chef came to the house. Plus they got to spend time with some of their favorite people in the world, the staff at rmh. We also got to spend time with other guest families which we really enjoy, rmh families have become our extended family. Jilli sobbed when we left. She kept asking me not to take her away from her favorite place in the world!

I'm exhausted (but wide awake, thank you for the venti coffee Alex!) but thankful for the past few days of great memories and productive appointments.


On Saturday we were on CBS news about the hospital flu policy. We were contacted Saturday morning by a reporter who had seen us on TMJ4 but at first said that she was looking for someone closer to the station but then a little while laster she called us and said she was on her way to the house. After a quick cleaning of the house and getting everyone dressed she came and interviewed us. She was really kind and seemed truly interested in the girls and asked some great questions. We were not planning on being interviewed by two different news stations last week but I am hopeful that the community was able to hear that while complex families support the policy because it is to keep kids like mine safe but that families like ours who are currently in the hospital are going to need extra support right now and thus need help from the community. If you know someone who has a kid at Children's right now that also has other children, ask them how you can help, pick up extra shifts at work for them or help with watching the kids. To see the news story click HERE