Today we had our big genetics appointment that we have been waiting for since December. It is one of those appointments that you feel like takes forever to get here. At this point it does not feel like we are always waiting on the next appointment like we once were. While she still has strange things that pop up and urgent situations, we are better prepared for them then we were when this all started. While it still feels like we live in doctors offices, many of our visits are a lot more spaced out then they use to be. I remember a time when we saw GI every month. We are at every 3 months now.
The point of this visit was to discuss genetic testing. Up until now we have not had insurance that would pay for the big genetic test and it is expensive (over $15,000) and state insurance will only pay about $1,000 and our past two insurance companies have had it outright listed in our plan booklet that they would not cover it. We still don't have approval for it yet from our new insurance however our plan book says they cover it and the genetics department says they are the best insurance when it comes to covering genetic testing. We are really hoping they approve to pay for this test otherwise we are going to need to pay for it out of pocket.
We are doing genetic testing for several different reasons. We have yet to find something that explains her odd grouping of symptoms and there also seams to be a genetic correlation.
Today's meeting was almost 2 hours long. Thankfully my mom came with and kept Jillian entertained while Brent and I talked to the genetics counselor. Most of the appointment was spent with them explaining how they do the test and what they look at and for. It put all of those science classes we took over the years to good use.
Then we had to choose what information we wanted included in the report. Anything that is related to her symptoms they automatically will tell us, along with anything that points to a treatable childhood onset of an illness. We needed to decided if we wanted to know if there were any not treatable childhood illnesses non related to her symptoms or adult illnesses that she is at a greater risk for based on her genes, or if she is a carrier for any illnesses. We chose to opt into telling us whatever they find. They are not going to go looking for things that are not related to her list of symptoms, but they said that sometimes when looking they find other things and they wanted us to choose before they did the test if we wanted to know or not.
To do this test most effectively they also need to do the parent's DNA sequencing as well. From us all they need is a blood sample. I will tell you, that was the least painful easiest blood draw I have ever had. I want all my blood draws done at Children's now, lol!
The other part was we needed to give full family medical histories for both sides of our families.We also needed to go over all of Jillian's symptoms so they could focus on the correct places in her genes. They were trying to be really gentle with us as some of the terms used to describe some of Jillian's symptoms are big and hard to take in at first (I know how it felt the first time I overheard a doctor tell someone else that Jillian was diagnosed as "failure to thrive" and how it felt like someone had punched my heart) but for us at this point these terms have become "normal" to us and we are use to the medical jargon a lot more then when we started.
"How are you doing with it all" is the question that hit me like a ton of bricks tonight. It is not that today was particularly hard health wise for Jillian. (She made it the longest she has in a week without a neb today and was much more like herself.) Honestly it hit me harder emotionally today then bringing her to the ER two weeks ago, because to us the ER is somewhat normal. We have been there almost monthly lately.
So what about it made it hard emotionally? Because it made it all feel so real. When your baby is little and stuff start coming up, doctors will say "we will watch it, hopefully she will grow out of it." I can't even tell you have many time I heard that line the first year of Jillian's life. Instead of growing out of things, this have slowly gotten worse. A new symptom here, another illness there. But in the moment you live. You do. When your kid can't breath you get them help, you don't wait around pondering it. We have known for some time that this was not just going to go away, but you have to accept that differently when you are sitting in a genetics office talking about gene sequencing. It is not something they do just because. It is expansive and time consuming. It will take 3 months for them to interpenetrate the data of the test. We are not expecting to hear anything until at least summer.
I am a doer... I just jump in and take care of what needs to be taken care of but every once and a while it all just hits.
After the appointment we went over to Target to buy Jillian a new passy. Her's broke on our way to the appointment as she is going through them about one a day from biting (it is one of the very few things she can safely put in her mouth and she refuses most chew/teething toys, and sucking on a passy helps keep what little oral skills she has) If anyone finds Timmy Tippee passys cheep let me know!
We then headed over to Mayfair. I had a coupon for Build-a-Bear that was about to expire. Jillian is very good about leaving the Tubie Friends animals alone which is impressive for a 2 year old. She also did an amazing job during the appointment. With the blood draw and all we were at Children's for around 3 hours. She has been eyeing up the Build-A-Bear Olaf for a while. We let her go make Olaf and put the sound chip in that sings "Let it go." She was SO excited! We then walked around the Mall and went to one of her other favorite stores, Barns and Noble. She LOVES books and was so excited to get a Hook book. She is in love with Captain Hook from Jake and the Neverland Pirates right now. She has a stuffed Hook that "pushes" her inhaler down and that is the only way she will take it right now. The only book we had with Hook in it was a Disney cookbook I have so she kept looking at the cookbook however that was a problem because when she sees food she creates saliva just like anyone else. Well when she makes saliva and since she does not have food she will sometimes start to choke on the saliva. This made finding a new book with Hook in it a very important task today...
We then met Dan at Cheesecake Factory for dinner. She had hit her limit during dinner so we quickly finished and took cheesecake to-go. She had sat a lot today, and sometimes for her restaurants are just hard. We can't entertain her with food and sometimes nothing in the diaper bag is interesting to her 2 year old self. She is still on nebs so her body is still really jittery and sitting still was just hard for her at that point, and thankfully we were with people that understood that and were ok with eating and leaving. It means a lot to me when people don't try to push Jillian in times when she just can't sit anymore and are ok with cutting a meal short.
Please join us in praying for the testing to come back with results that show us what is going on and how to best help Jillian. We are very aware that this test could tell us what is wrong and for there to be nothing that can be done about it, and at this point we have hit a point where we are ok with that, what we really want is to know what is going on so we can best help her. Please pray that insurance covers the testing and that they make their decision quickly to cover it because currently we can not actually run the test until we know if they will cover it.
We want to thank the people who have joined us in this journey. We can not even begin to explain how much that means to us. Thank you to the person who brought us food last night because they knew this week would be stressful for us. Thank you for listening ears and praying hearts.
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