Brown and Pink Polka Dots : The roller coaster

The last few days were a ride, I knew they would be but it feels good to just sit this morning.

Monday morning we had PT. Jilli's pulse ox started in the mid 80's.... not where it should be. We have been having conversations with special needs and they are helping to coordinate trying to get us a portable oxygen concentrator (this would be so awesome for us not having to do oxygen delivery every Wednesday and would give us more flexibility) and they are talking with pulmonology to up Jillian to 1lpm of oxygen. We did a 6min walk test on the treadmill and she mad it 3min before she started to fall apart. We are going to try it again next week with our home pulse ox that can be used continuously. Jilli worked hard in PT. Lydia also had PT. She is working on pivoting while on her tummy. She is still not rolling over yet. She tries to use her head to do everything. She worked hard and was asleep before we pulled out of the parking lot.

We headed up to Ronald McDonald House. My parents got me a fold up wagon for Christmas which really helped with getting everything in. We went to the magic room and the girls played in the play room for a little bit before we headed over to the hospital. Brent met us on the way to the hospital. First we headed up to GI where Lydia had a weight check. She is now over 17lb! Her dietitian messaged me and her weight has slowed from 20grams per day to 5 which is a much healthier growth rate so we are leaving her feeds alone for now.

We then headed to IR. Both girls get their feeding tubes changed every 3 months. I would rather replace it before it breaks. First they called Lydia back. We asked Jilli which parent she wanted to go back with her and she chose mommy so Brent went back with Lydia. A couple minutes later they had Jilli and I go back. Brent and I got all gowned up in the paper outfit, hair nets, shoe covers and lead vests... so fashionable. They took Lydia back first. Brent said she giggled at them and kept her feet in the air the entire time. While Lydia was back Jilli and I were hanging out with IR nurses. They gave Jilli a sticker pack and she used it to decorate nurses' name badges. Then it was our turn to go back. Jilli walked right in and we put her up on the table. She said she was feeling a little nervous so one of the nurses looked up a youtube video of Daniel Tiger and she laid there and watched it. They put water into the J and the G to help make sure the placement is right and as they put the water into the G Jillian almost puked on them. Everyone's eyes got bit and it was a reminder of how sensitive Jillian's stomach is. They had to use a syringe to get the water back out of her stomach to help her feel better. I can not say enough about how AMAZING most of our IR department it. They have taken the time to get to know my girls and do what they can to make them feel comfortable. They told Jilli each step what they were going to do before they did it which helped her to relax. The PA told us that our girls are some of the calmest and easiest tube change outs they have because they are so calm. We said we try to make this a positive experience for the girls because it is something they have to do every 3 months so might as well make the best of it. I am so thankful for our IR team.

We then headed back to rmh and the girls played with Nate in the art room until dinner. We then headed up for dinner together. They were serving breakfast for dinner which was great for my broken tooth and the perfect comfort food. Monday nights there is music therapy at RMH. My mom bought Jilli and Nate matching Star Wars Lego pajamas and they wore them together to music therapy. Both girls enjoyed playing the drum and Lydia loved the tambourine. After music we headed up and a group of kiddos all played together in the great room until bed time. Brent took our kids and put them to bed and Holly and I made hot chocolate and watched the snow fall and talked. It was exactly what both of us needed that night.

Tuesday morning Jilli got up early so the two of us headed to the kitchen so I could eat breakfast. There is a local bakery that donates baked goods and there were muffins with bacon inside! It was a yummy breakfast. We headed back to the room and got ready for the day. We headed to the playroom for a little while. My mom met us at rmh and then we headed over to the hospital. Genetics is in the Curative building and it was a rainy walk over... it seams to always be rainy when we go to genetics.

We checked in and they brought us to a room with a round table, chairs and a box of Kleenex. A then they left us sitting there by ourselves for 20 minutes... that was a long 20 minutes as we tried to have small talk. The genetics dr and genetic councilor came in. He said that while the testing did come back showing some things that it was not the right things to provide a diagnosis. The exome sequencing came back that Jillian has one copy of the gene for Ciliary dyskinesia and one copy of the gene for Spinal Muscular Atrophy, however both of those are recessive genes and she only has one copy meaning she doesn't have either of those disorders but is a carrier for them. Her muscle biopsy also came back with a variance however it is a variance that has been seen in people without any symptoms so it is not clinically relevant. The doctor was great about explaining everything and we had a good conversation. I could tell he had read my kids charts before walking into the room which is always a big thing to me.

He said that we know Jillian (and Lydia) definitely has a muscle disorder of some sort. We can tell the effects of it by the fact that her type two muscle fibers are atrophied, but atrophied muscle fibers are the result not the cause. We also talked about her lungs. He agreed that he believes she needs oxygen because her lung muscles can not take deep enough breaths at all times to get enough oxygen to all of her body. This is why sometimes her pulse ox is 100, because at that moment her lungs can get breaths to get oxygen to where it needs to be but it dips when her muscles wear out.

We talked about whole genome sequencing and he said that at this point for the things we are looking at the genome sequencing isn't any farther ahead then the exome sequencing so it doesn't make sense to do that at this time, someday it might be but right now it is not. We discussed other testing and there isn't any. There isn't other genetic testing that someone else can do that CHW has not already done. Genetics is a new enough field that they are all using the same labs and techniques so going someplace else likely isn't going to get us any farther. So for now the plan is to contact genetics in a year and see if there have been any scientific improvements that they think will help us. The fact is that science is just not where we need it to be yet to diagnose the girls. The guess is that it is either a pathway that has an error or multiple small gene variations that together are the "perfect storm" but there are no way to prove these theories yet. It was a good constructive conversation and I could tell that he really wants to get to the bottom of the cause for the girls but there just isn't anything more they can do at this time to get that answer.

We kept ourselves together during the appointment but the tears started to roll on the way back to rmh. It will likely be at least another year before we know what is the cause of the symptoms. While I am happy it is not SMA it doesn't mean they don't have an equally scary condition. For now we are going to continue to treat symptoms as they come up but sometimes that feels like trying to hold whack a moles down with band-aids. But we will keep doing what we need to be able to help the girls the best be can and trying to make the most out of each day.

So for now I think we are taking a break from our genetic quest. At first I was having a really hard time with that and felt like I was letting my girls down but I think for right now it is the best thing. We could travel all over demanding more answers but the reality is science is just not there yet and thats not anyone's fault. I would rather spend my kids time enjoying them then running around the country hearing the same thing. Trust me if I thought going elsewhere would get us any farther I would be on a plane right now, but sometimes you just have to accept the facts. We have a great team here in Milwaukee that care about my girls. They are invested in my girls well being and there is a level of care that comes with that.

After genetics we headed back to rmh and hung out for a little bit and then got on the road. We needed a few minutes to process before driving cause driving and crying isn't safe. Thankfully we got on the road before dark because the roads were already getting icky and it was a very windy drive home. Apparently it was windy enough to blow a chunk of our siding off of our house yesterday so now we need to figure out how we are fixing that.

Last night Jilli was busy playing with the new teddy bear she got from RMH. She loves him! I had to put oxygen on him last night because she said everyone needs to be like her and have oxygen and a tubie. She said that dad and I need to figure out how to get tubies so we can be like her. We told her that is not happening right now but that we love her tube. To her she sees her tube as a positive thing. She knows how much it helps her and she is thankful for it. She also knows that her oxygen makes it easier to breathe and for that we are all thankful.

Today we are taking a slow day. I am still in my r2d2 pajamas. We are waiting for oxygen to get here. Working at unpacking and cleaning up. I have also been working with an editor on two articles of mine that are being published in February! I am also working on a speech that I am giving this weekend to a church a friend from college works at about how Ronald McDonald House has helped us before they go there to volunteer. The girls are enjoying down time. Jillian is playing with toys and watching Mothergoose Club and Lydia is sitting on the floor playing with toys.

A huge shout out to everyone who has loved on us the past few days. From awesome friends who sent us texts asking how we were doing and praying for us, to the people at rmh that helped take stress off of us, to my mom who came up and helped with the girls while we were in the appointment and took notes so we could pay attention to talking to the dr. Thank you to the people who encouraged us and loved us. This journey is not easy but totally worth it for the girls!

Jilli has been carrying her "purse" its a little bag that grandpa gave me, it was Grandma Jill's and Jillian loves it! She even had to bring it up with her for a bath

Jilli and Lydia "driving" together. Jilli got a Target gift card for her birthday and she picked out the steering wheel so she could "drive" to her imaginary place