Genetics phone call

Ever get a phone call that you know could change many things?

Jilli had PT this morning (her o2 was better this week which is really nice) and then we stopped at my work because my boss found a Little People wheelchair and I have been looking for one for Jilli to play with her Little People and have been having a hard time finding one so when my boss stumbled on one she set it aside for Jilli. We were leaving and it was raining. We got just about to the park in ride in Elkhorn and my phone rang. I was not going to answer it but it showed Children's number so I pulled into the rest stop and answered.
It was the muscle and connective tissues genetic counselor. She said they had results back and was wondering if I had time to talk.
She said the the muscle biopsy results were back and they found a variance. She said it is super rare and they don't know much about it. She said it has been seen a couple of times in test samples of people with no symptoms however Jillian's variance might mean something. She stressed multiple times how rare of a variance it is. She said that sometimes different muscle cells in one person can have different variances but all of Jillian's mitochondria have this same variance. (Mitochondrial DNA is not the same as the typical DNA you think of) She said we might have found or needle in the haystack, but at the same time this could be nothing. The problem is not enough research has been done on this variance yet to know if it causes issues and if it does what those issues are.
I asked if I could get a copy of the test and she said that I could get that during our next genetics appointment, which is not scheduled because they cancelled the one we had scheduled for November. She said that they are still waiting on the genetic counselor for the exome sequencing to get her testing back and then they will call us and schedule an appointment and that will be sometime in the new year. She said at that time she will also meet with us and give us any additional information she finds about this variance.

Right now I am numb. After I hung up we got onto 12 and drove to Target. I had promised Jillian that we could go to Target if she worked hard in therapy today because last night we had Thanksgiving here for Brent's family and his mom kindly brought Jillian some Barbies but two of them didn't have clothes and Jillian only had princess Barbies that come with their princess outfit so we didn't have any extra clothes here. Jillian worked really hard in therapy even when she was really tired at the end so we went to Target on our way home. It was raining as we got out and I was so thankful to a kind stranger who helped us get a dry cart. We went and got some Starbucks since our coffee maker decided on a rainy Monday that I didn't need to start my day with coffee and by 1:00 I was really needing some coffee. We found some Barbie clothes and headed back to the car. That is were the phone call hit me. I sent a text to a couple of people letting them know about the phone call and then headed home.

I don't know what to think. My head is swirling. This could be our answer but she also told us this could mean nothing. I don't know anything about the variance (if it has a name, where it is at in the mito DNA) so I can't research it. I don't know what other complications this variation might bring. There are many frustrating parts of having your kids be undiagnosed but no one also has any guesses about the future and now we might hear that, and that is both exciting and very scary. My heart has also been let down so many times over the years of doctors thinking they know what is going on only for it to not be it that my heart has been scared and is a little more hesitant when they come to us with a maybe.

So, as it looks right now we just have this random information to sit on until at least January. I guess it is probably good that our December is busy so that my mind will be distracted and I think for right now I am going to rock a baby to sleep and then work on wrapping Christmas gifts because Brent and I are almost finished Christmas shopping and I have time today to wrap.

I will try to blog sometime this week about other things going on right now. We spent some time at Children's and rmh last week and tomorrow Lydia has her PT eval...

But if you see me in the next few days and I just seam off... I'm processing and my head is swirling (and might be running on minimal coffee) and I don't mean to be short and distant and please accept my apology now if while I process I am a little out of it.

Empathy

This is a convo between a special needs momma and I this morning. I am sure when you read my response that the test came back negative you probably were not expecting me to say sorry... but in that moment my heart broke for her. See she has a kiddo who is complex like mine and has no diagnosis. No one knows what is causing the complications they are seeing and the muscle biopsy just came back negative. See muscle biopsies are not the first step... instead they are closer to the end of the line of diagnostic tests. No one wants to cut a kids leg open and take a chunk of muscle out and agreeing to that test as a parent is hard, but you do it when you need to find answer for your kid and as you wait for the results you pray they find something so they can help your child.
Most people take their kids to the doctor and the doctor tells them what is wrong. In the undiagnosed world that is not the case. Our kids stump the doctors. Just treating symptoms as the pop up is like playing wack-a-mole with a band-aid.
But the hard thing is when you tell people the results came back negative, most people celebrate and you look like the mope because on the inside your heart is aching because it feels like 10 steps back and where do we go now.
This is something I had no idea about before having the girls. So I just wanted to share this with you all because there are times when test results come back negative and it is awesome but there are times where it is like a knife to a parents heart. Was this mom "wishing" for her kid to have mito, no, but they need answers to best help a sweet little girl and mito was the logical thought but now that they don't think that is it... where do you turn next? 
So if you find yourself in a situation were parents are trying to find out what is going on with their kid and something comes back negative, I would highly recommenced starting with "how are you feeling about that." I didn't this morning because I know this mom well and I knew how she was feeling when she wrote those words. I get that it is hard to explain, but I just wanted to share in case it could help you better support someone at some point and show them love. There are times to rejoice for negative results and sometimes there is frustration and anger and my goal is to love people for how they feel in the moment. 

Being the hands and feet

After my post election post last week a few people have been awesome and ask about ways they can get involved to love the least of these and that is awesome! I am so blessed to call some of you my friends! (If you missed the boat on last weeks post and continued to spread awful things or don't understand why people are upset right now, we are here for you too and still love you even if you are breaking our hearts and I would love for you to read this post by a Christian online magazine)

First, if you feel strongly about something in our government, CONTACT YOUR REPRESENTATIVES. They work for US (in a collective sense). If you think something they are doing is wrong, speak up. It doesn't matter if you voted for them or not. Call them. Send then a letter and encourage others to do the same. If they keep doing things you don't like, don't vote for them, I don't care which party they are in. But also remember they work for everyone and sometimes the best for all might not align with what you want. Evaluate and read different things going on in the government, too many American's give up their voice by not voting and not contacting their representatives. They can't read your mind. I have already started working on letters to politicians about the ACA and how it effects a family like ours. I know this weekend there has been a lot of back and forth from multiple people in power about the ACA so now before they are voting on things is the time to speak up.

But there are also many people in our own back yards that need to be loved on. I will fully admit that when Jillian was born I got swept up in all of her needs and working full time that loving others got pushed to the side, however I have made a choice now to make it a priority to show love to others in tangible ways (James 2:14-26 speaks of why we must DO). Here is a list of different things that we are involved in that love others. This list is not to brag but to give ideas of some places that we work with to show love to other people. We would love to have you join us in any of them.   (If you click on the link it will bring you to a website with more information)

Bouncer/mobile project: We are taking donations through THIS SUNDAY of mobiles and bouncers for Children's Hospital of Wisconsin for the 11th floor. So far we have collected 3 bouncers and 2 mobiles. Thank you to everyone who has helped so far! I am so excited to be able to bless little children with a smile while they are in the hospital.

Tubie Friends: I am a volunteer with Tubie Friends. We make stuffed animals for children with medical needs with matching medical equipment (feeding tubes, oxygen, traches, IV lines). These animals make the medical equipment less scary and bring a smile to the kids faces. They also help families explain to other people about the child's medical equipment. We run on donations. The feeding tubes are donated from a manufacture but everything else we buy at full retail prices. We use Build a Bears for a mix of reasons, but they cost money. Shipping is also expensive. We ask families for donations however if a family is unable to pay we raise the funds to cover the stuffed animal, however it takes longer then for the child to get the animal while we raise the funds. Donations can be made on the website.

Never Say Never Playland: I have joined a group in our community working to build an inclusive playground. Playgrounds help to build community and we are working to build a playground in Lake Geneva for ALL CHILDREN. Typical playgrounds are really hard for Jillian however in an inclusive playground we are able to put all of her medical equipment in her wagon and she can play with other children independently. This is huge for her. I am excited to be a part off this project but building an inclusive playground takes a lot of hands and money. Right now we are working to raise 1 million dollars. Once the money is raised we will be doing a community build where we need a lot of hands to work together to make this happen. This is a literal way to get your hands dirty to help others. (plus if you go to the gallery on the website you will get to see some cute kids... wink wink)

Ronald McDonald House: I can not even put into words all of the things rmh in Milwaukee has done for our family. They provide a place for us to stay when are hearts are stressed. They have brought some amazing people into our lives that we have been able to form friendships with and support one another (I have a group of moms who I contact multiple times a week just to check on their kid and they check on mine because we are a community). I have heard it said that people don't want to be around sick kids because it would be depressing and I can tell you that rmh is far from that, in fact Jilli cried tonight because she knows one of her friends is there and she would rather be at rmh tonight then at home. Meals are served at rmh only on nights that there are groups that come in and volunteer to make the meal. I can't even express how much these meals mean to family. For us, times we are in the hospital gets very expensive when we are having to eat hospital food however having a meal provided is a wonderful gift. This is also a time where the families gather together and support one another. People ask about how testing went and what the plans are. Ideas are shared between parents which can be lifesaving for kids. Another thing the rmh has is the magic room. When we are going through something scary the magic room brings a smile to Jillian's face. When you check into rmh each child gets a token and that gives you one trip into the magic room. The magic room is filled with toys and books and each child gets to pick out one toy and one book. Christmas toy deals are already going on and rmh is always taking toys to stock the magic room through the year. RMH also takes donations of (new) household items. There is a full list on their website of things they need.

Recovery Home for Victims: This is a ministry our church is partnering with to help get girls out of the sex trade in Kenosha. Yes, the sex trade happens here too. Fighting for people in sex slavery has been something that has been on my heart since I was in high school and I first read about it (I had text books thrown at me for speaking up that it goes on in our area and is wrong). When I was 16 my Christmas wish that year was to help as many people as possible get out of sex slavery and I am thankful for my family for rallying around that wish. While I have not invested as much into this situation, I still have a passion for it and am so thankful that our church is working to not sit silent but do something. Right now this organization is needing $15,000 and it is our church's goal to raise that asap. Check out the website to see what they are doing right in our community. This is something the global church has been quite about way too long.

So what are you doing to love the least of these? Don't have lots of money? then use your hands to love others. Have a few extra dollars (lets face it we live in one of the richest countries in the world, if you live here you are most likely considered wealthy in terms of the world), then find places to use your money to love others. Have more ideas of ways to love others? leave ideas in the comments bellow! We need to talk about what we are doing to help others because it shines a light on the cause and helps others to see a need so they can help too.

Jillian playing at Ronald McDonald House in Milwaukee

Taping an AMT G-Jet and PEG GJ tube

Over the past 3 1/2 years we have had a lot of practice at the art of taping. Taping feeding tubes is something tubie parents so be able to put on a resume :)

I am in a few different feeding tube groups and have friends in the feeding tube world and I have gotten a lot of questions lately about how we tape the girls' feeding tubes. Jillian has an AMT G-Jet and Lydia has a PEG GJ tube. GJ tubes should not spin or move so to help prevent that we tape them. By taping Jillian's tube we have not had a tube pull out or had it coil in her stomach from turning. I can't promise this is fool proof but it is something that has helped us.

Here is how we tape Jillian's G-Jet:

We use tube pads from Kangaroo-tique and a piece of Tegaderm cut in half

First we put on the pad

Put one half over the top part of the G-Jet

The bottom part is next

Peal the paper off slowly. I push the tape down after I peal the Tegaderm off to make sure it sticks well

What it looks like taped

The we put a belt on to help hold the extensions in place and help take some of the weight of the extensions off of the tube itself (plus feeding tube belts are cute!)

Here is how we tape Lydia's PEG GJ tube:

We have used Tegaderm and multiple other tapes and find the tapes on a roll work best with the PEG. Lydia's GJ tube has a right angle piece on it (that we LOVE) but it is angled the opposite direction of the first loop on most tube belts so we worked with our belt maker to make a belt with a loop on the other side.

If you look back on this blog you will find posts about how to tape a PEG tube that does not have a right angle adapter.

I hope this post helps someone and saves them some trial and error :)

Not a normal me post

I don't normally write anything political... like ever! I have joked on my facebook about silly things Jilli said during this political election. She likes pink better then red or blue in case anyone was wondering, but please take the time to read these words, they are not bashing, just a mother's heart.

Lets start off with some background... I am a white middle class girl who grew up in the suburbs between Chicago and Milwaukee. In my grade in elementary school there where 2 kids that were not white and one of them was adopted by a white family. My mom has always worked with people with disabilities and frequently would bring us to events and work because she saw value in us getting to know people outside our little white perfect lawn bubble. I am far from what you consider to be a minority.

As I got older my bubble widened. I have had the privileged to go on mission trips to 3rd world countries and while I was only there for a week at a time impacting others it impacted my world view. America we got it good! In college we had to do a lot of placements. One of mine was working with Early Head Start in Beloit. That was an eye opener. I had a placement in Milwaukee in the exact neighborhood all of the violence has been going on in. I had 4 year old explain to me why they don't like police. Once again this shaped my world veiw, but at the end of the day I still drove back to my house where there is food in the pantry and I am safe. I only glimpsed into this other "world' but I didn't live in it. I was able to drive away and while it left an impact on my heart I have no idea what it is truly like to live in either of those situations.

We are also a very independent family. We get our news from everywhere. In fact sometimes we joke about what channel is it going to be tonight because we don't want info from just one source. Brent listens to political pod casts to and from work every day (its and hour drive each way) and we both read news from multiple places. We do our job to be educated. I voted republican in the primary and not republican in the final election. Neither Brent or I vote based entirely on a single issue.

What I do know, is yesterday for the first time in my life I felt scared to live in this country. And I wouldn't be writing about it (I HATE arguing politics) but I have seen so many people post on facebook in the past 24hours that I have no right to be scared and that is not fair...

Is the president elect someone who has openly mocked people like your children? My kids have a muscle disorder. It is not CP but very similar in many ways. How would you feel if someone in power made fun of your kids? I don't know him personally but public actions speak loudly. If you are willing to do that in front of people, what do you do when no one is watching?

But while being made fun of is hurtful, I can walk away from it. We have been told some pretty hurtful things in the past almost 4 years and I have learned to just walk away. However what scares the crap out of me is on the lines of healthcare. I will full admit that not all parts of the Affordable Care Act are amazing (honestly show me one thing that has passed through congress recently that is amazing) however there are parts of it that are really important to a family like ours. But what is really scary is his plans for medicaid. If you don't know Jilli is on medicaid. It pays for what is left over from insurance. Let me give you some numbers:

• Every MONTH our med supply company bills our insurance $3,928.70. This is for oxygen, feeding pump supplies and formula. Those things are all needed to LIVE. This is just the cost for Jillian.
• Every 3 months we go in for a tube change out. Those cost $4,732 each
• Physical Therapy each month costs $720
• Jillian's meds from one pharmacy (she uses 3 different ones for different meds) so far this year has billed insurance $11,646.45 
• None of this includes the cost of doctor visits, surgeries, ER, or hospital time. 

We are lucky. My husband works for a fortune 500 company. We have health insurance. We pay high premiums, I get it. But we still need state as a secondary to help pick up the THOUSANDS of dollars that are not covered each year. And still then WE pay hundreds of dollars a month on things neither of them pay for. Jillian's CoQ10 is $60 a month. She just got braces for her legs, and needed all new special shoes cause the ones at Walmart and Target didn't work. None of her vitamins or probiotics are covered by insurance.
When we first got married the ACA was not in place. We were young college students and figured we would just buy insurance on our own since neither of us had a job that offered it. We bought insurance only to be told they would pay for NOTHING for me because of my pre existing conditions of asthma and ovarian cysts. Thats all I had diagnosed at that time. They point blank told me that I could pay them hundreds of dollars per month but that they would never pay anything out. Then ACA came into effect and I was able to go back onto my parent's healthcare which was amazing because before that I was having to get my prescription meds from over seas because it was either that or put food on the table. The ACA massively effected my life for the better.
But what scares me about the ACA being repealed is my kids have a lot bigger pre existing conditions then asthma. What happens when they age out of Brent's insurance?
You are probably going to tell me, well then they will just have medicaid, but here is the problem... I have read Mr. Trumps plan and if you really dive into it, it cuts the funding for it and basically de funds it... you can't pay bills without money. People keep posting online that there is so much corruption in medicaid... however the people that are posting that have never applied for it. Let me tell you the process. First I get sent a really long packet where I have to list everything my child can't do. It sucks. Honestly I would rather be sucker punched. Then a person from the state comes over for a home visit to see the child for themselves. Then the packet you fill out and all of your child's medical record goes to the state where they make the ruling one way or another. This process takes about 3 months and in the end you get a letter and if you child qualifies the letter states that your child has been deemed permanently disabled by the state and while you celebrate the help in paying bills you cry on the inside. Then we get to do this again every year. Every June we go through this process. There are a lot of checks and balances. I see a lot of families with kids with special needs and have yet to meet one that I felt was playing the system. Most are like us and drag their feet to apply until they are drowning in bills (We are still paying medical bills that are well over a year old)
Without medicaid we don't make house payments. I have also heard on facebook in the last 24 hours that no one would touch medicaid for kids like mine. Here is why I don't have as much hope in that as others... when things like this go through law makers don't have the faces of my kids in their mind. They don't know how funny Jilli is or how when Lydia sees me in the morning she licks my face because she is so happy. They see money. They see heads of insurance companies that are not in the insurance business to help others, they are in it to make money and kids like mine don't make them money. They are not going to take kids like mine unless they have to. Thats why most people don't like the ACA right... because you have to pay more, while you might not be outright saying it, really you are saying you don't want everyone included to get insurance because you don't want to pay more, thus saying you don't want kids like mine to have insurance. While I know most of you don't think about it down to that level that is the reality of the situation.
So what do I say to my girls when I am teaching them history in a few year? How do I explain to them that there is a group of people in this country that don't think they deserve healthcare that keeps them alive? Because med supply stops delivering if you have an outstanding balance, if there is no one to help pay that bill my kid does not get oxygen. And before you say no one would do that to my kid, go read comments on some news stories about healthcare... I have read plenty of comments where people say kids like mine should die so they don't have to pay. Heck, I post an article not too long ago about a politician who said the same thing. Have you ever read a comment that said someone would rather see your kid dead?
So please stop telling me that I have no right to be scared. As an American I have every right to be scared. And before you through some unBiblical doctrine at me, remember how the Israelites wanted a king and God gave it to them, but look at what that cost them. Remember God's people have wondered in the desert for 40 years before. God works everything together for the good of those who love Him, but that is not the same as the American definition of good. Good might not be tomorrow. We might have to go through some darkness to come to good. Most Americans are not Christians and you can not expect no Christians to act like Christians and heck may Christians don't act anything like the Bible calls them to (I get we are all sinners and I am far from perfect but look at our nations history, many KKK members claim to be Christians right...)
Am I rooting against Mr. Trump... no, not at all. I am rooting that he is a diamond in a yucky rock. Maybe he will help things and then I will cheer for him. Man I really hope he proves me wrong and for that I will celebrate because I root for America.
But please stop saying those of us so are scared right now are playing victim. Cause I bet you didn't have a day like mine yesterday where you woke up and felt so scared and then spent the day being contacted by other special needs families, ones I have NEVER talked politics with before and don't know my views on things, to many mothers crying scared, some scared more then I since they don't have insurance through an employer. These are moms who literally make life and death choices for their kids daily. So Church, what are you doing to love these people who are so scared right now? Cause it takes a lot for me to write a post like this, but how in the world are you loving scared people right now cause your facebook memes telling them not to be scared is just pissing them off and pushing them away from God.


ps: I will have civil conversations about this however I will not get into political battle with people. I at no time did I attacked Mr. Trump in this, infact and I said I am hoping he does amazing things to help others, but if you attack me your comment will be deleted.

change

This morning is a reminder of all the news we have been through. When we brought Jilli home with an NG tube, when she got the NJ tube and was on 24 hr a day feeds, when she got her GJ tube, when we switched to a button, when she started on oxygen, and now when she got leg braces. Each of these changes has felt overwhelming that first morning home afterwards but slowly they become our normal.

Yesterday we picked up Jillian's leg braces at Shriner's Hospital in Chicago. They have an in house braces company named POPs so we went to POPs first. They had the braces and they tired them on Jilli and then marked where her foot sat in them and then took them to the back room and shaved them down to the perfect size. Once they are the right size they add the straps. Once we were done in POPs they sent us back to the main waiting room to wait to see the dr. The dr said everything looked great with the fit of the braces and we have a follow up appointment in 6mo. We were at the hospital for over 3 hours.

Then the challange came... to find shoes to fit over the braces. Jilli has had othrodics for a long time now so I am use to not being able to buy shoes for her at most places but this was a new level of interesting. I had read all I could online about shoes for braces before we went down. Jilli was determined that she wanted shoes from Target (they sell Peppa Pig shoes there) so we went to the closes Target... Jilli had TINY feet. She still wears an infant size 5 for length however now her feet with braces are closer to the width of an 8. We couldn't find any shoes at Target we could make work. We then went to Woodfield mall. First stop, Stride Rite. We found a pair that fit ok and she kind of liked them and since I was a little worried about finding anything else we picked them up. We looked around a couple of stores and then wondered into Crocs. I knew from reading online that many kiddos with braces wear Crocs because they are really wide. Jilli has always wanted Crocs but because of her orthodics they were not an option plus she has really narrow feet. At Crocs she fits into a 4/5 so the length is right and they are wide enough the braces go in! Score! Plus the only pair of Crocs they had in a 4/5 just happened to be princesses! She was so happy!

Thursday night was also the first night Santa came to the mall! To celebrate they had a marching band parade around the mall... my sweet sensory girl just covered her ears and cried. I felt so bad for her I wanted to cry too! We went into JC Penny to escape the noise and found they had Tsum Tsums on sale and she has been searching for Dale (as in Chip and Dale) and they had one. She was so excited. Those little plush things make her light up! She now has Chip and Dale and she is so excited that the brothers are united!

We then headed over to Ikea and got dinner (I'll blog about that later) and picked up light bulbs for our kitchen (It was probably the smallest Ikea trip we have ever had) and then we headed back home. It was late by the time we got home and the girls headed to bed.

Yesterday Brent had to go to the DMV to get a new drivers license and he took the paperwork with him for Jillian's disabled parking permit. Brent and I really struggled with this. Jilli qualifies multiple ways and more then one of the people on her medical team have talked to us about it before but we try to use as little services as possible because we want to make sure others are being helped too, but after some long talks with some friends we decided it was time to listen to the dr and get it. Jilli's lungs do not handle Wisconsin winter well and the closer we can park to the doors the better. We also have a lot of stuff that has to go with us everywhere and extra room to get it all out would be really helpful in tight parking lots. We are not going to use it all the time (we didn't use it yesterday) but we have it now for days when we need it.

Yesterday we also voted. Jilli loves going with us to vote. Its one of the things I remember doing with my parents when we were little and probably why I find it important to go vote so we are hoping to instill that in Jillian.

Jilli looking at her SMO, they have Barbies on them!

Jilli showing her braces off. The AFO at the tall ones, they have hearts!

Jilli holding the receipt for her Tsum Tsum 

Jilli wearing her new braces and shoes

The band with Santa at the back!

Happy Lydia!