GI, genetics and therapy

Today we visited the GI clinic. Its like our little home away from home there. I just looked on Jillian’s MyChart and she has been seen in the GI clinic 30 times since she was 2 months old. This does not include the times GI has come to see us when Jillian was in the hospital. She is only 38 months old… They don’t even ask her name when we walk in because they know us so well. Thankfully to us that clinic has been very warm and inviting and they really care about Jillian.

Her weight is up a little bit which makes me happy. I was very excited when the dietitian walked in the door. We have had a few different dietitians lately but we were lucky and got our original dietitian today. Carly and Jillian go back to when Jilli was tiny. The person we were supposed to have today was out sick and Carly noticed Jillian on the schedule and told the other dietitians that they could not see Jillian.  Carly is very happy with Jillian’s weight increase so we are leaving everything the way it is right now, which I am good with. We are at a good balance for Jilli.

The doctor then walked in. We talked a little bit about Jillian’s poop and that has gotten better with the added B complex and L-Carnitine. I then told her that we have a possible diagnosis. She was intrigued. We talked about it for a little bit and at first she was not sure if she agreed but then as we talked more she said the more it makes sense to her (we are now at 3 doctors that agree that “this” is logical) She said they see several people who have “this” in the GI clinic ("this" is a rare syndrome which means it effects less then 20,000 in the US) however it is not normally diagnosed until a little later because kids are not normally as bad as Jillian is as young as Jillian is, that it is not until they get a little older that someone puts the pieces together. She said that if “this” is it then Jillian defiantly has the most severe case of “this” that she has ever seen. We had a good conversation about “this” and what it means which was nice since a lot of my knowledge at this point has come from online. Not that reading stuff online is bad, I have read a lot of blogs from people who have “this” but it was nice to talk about it with someone who knows Jillian’s case. “This” is a disorder that people who have it fall along a spectrum, some people are very mildly impacted, others it impacts them a lot.

We then talked about Jillian’s tube site. It normally looks great and we very rarely have any issues with granulation tissue, however when Jillian had her last tube change out they were not able to get all of the water out of the balloon so they had to pull it out with the balloon still partially inflated. Since this happened her tube site has been weepy and bleeding off and on. I am not talking about gushing blood (I would have brought her to the ER) but it is more then there should be. We have had in the past were the area is a little weepy after a tube change but it has always cleared up in a couple of days on its own, however this time it did not. I brought it up to the doctor and she took a look. She wanted to make sure that the stomach wall had not prolapsed out when the pulled the tube out and thankfully it had not. She agreed that we needed to do something about it. The nurse came in with silver nitrate to cauterize the spot that was bleeding. Jillian was not thrilled about any of this but she laid on the table like a big girl, without any tears. I was expecting it to be a lot worse than it was. She made some faces at us and wanted mommy close by but she was a trooper! I am hopeful that this works and we don’t have to try other things to get it to stop.

Otherwise from a GI standpoint we are leaving everything the same. The doctor said that she would like to do an EGD once a year but that we will talk about that in the fall (EDG is where she goes into surgery and they scope her stomach, there is a few things going on in there that makes doing those regularly a good idea) For now she is stable from a GI standpoint which is really nice. We normally see GI every 3 months right now but they agreed that since she is looking good it is ok that we wait four months this time so we are not attempting to go to GI in June and for this I am grateful.

I also sent a message to genetics yesterday asking how long the triage process takes because when someone says they are triaging our case I am thinking I will get a call back in less than two weeks. Well I am glad I sent the message because my assumptions were way off, apparently their triaging takes two to three MONTHS before they call you and tell you when your appointment will be. I have a feeling that when they do call me it is not going to be for an appointment the next week but probably months from then. I’m trying not to be frustrated but really want answers. Our life feels like a lot of hurry up and wait sometimes. You don’t realize how important a diagnosis until you have a medically complex child… without a diagnosis it is like wondering in a dessert. Right now I feel like I see a glimpse of what this might be but I need the doctors to figure it out. The GI doctor told me about one other doctor that specializes in “this” however he has over a year and a half long wait. Her suggestion was to see how we like the Children’s clinic for “this” first and then go from there. She said that she really likes the doctor at the clinic at Children’s and she works with him a lot which was really good to hear that it should be worth the wait. Please pray that the they are able to get us in soon.

Jillian is getting more and more excited about being a big sister. Yesterday she asked to sit on my lap with her guitar. She asked me if the baby was sleeping or awake, and I told her the baby was sleeping. She told me she was going to wake the baby up and starting singing Jingle Bells while playing her guitar. She was very excited today to tell the doctor about Monkey Play Dough. Speaking of play dough, Jillian played with the Jake play dough set she got for her birthday for around an hour and a half yesterday. We had a lot of fun! She is also working on the concept of zero, which is rather ahead for a 3 year old. She is one smart little girl (I know I’m her mom so I am a little bias). Today we went to Babies R Us because she has been insistent that her baby sister needs passies so we went to get her and her sister pacifiers today. She was so excited! Its sweet how she thinks of her sister already.

We also decided that we are upping her Pt from 45min to an hour. Jilli needs breaks many weeks during Pt and we are working on endurance so an extra 15min makes sense… the state however once again said they will only pay for 6 visits over the next 6 months… We are hoping that an official diagnosis will help with that. We also discharged Jillian from speech. She has come such a long way and I am so proud of all of her hard work. She still has times where she is hard to understand but she falls within normal ranges at this point.

So that’s the Jilli stuff going on right now :)

Looking like such a big girl the other day (excuse our messy stairs!)

My little Doc McStuffins

Jilli and I wearing blue jeans on Monday for gene research. Thank you to everyone who helped us raise awareness for rare disease on Rare Disease Day!

Jilli in the waiting room for therapy on Monday!

Playing with her babies

She wanted to know why it was snowing yesterday but Olaf was not magically in her back yard

Playing play dough yesterday

She took a 3 hour nap this afternoon (she rarely naps). She needed it after her morning. She has also been struggling with sleep lately. It has not had anything to do with her bed, she has actually been staying in that nicely, she just goes through these times where she has a rough time with sleep. I am glad she got caught up a little bit today!