Good News!

I just spoke with Josie's neurologist and the MRI showed no hydrocephalus and nothing else concerning. The only thing found was a small spot of something called a "nonspecific T2 white matter hyperintensity" on her left hemisphere of her brain, but the doctor said it is nothing to be concerned about and that she sees them often...usually without any explanation of why they are there. So, very good news! We still don't know what is causing her head to grow at a rapid rate, but at least we have now ruled out most of the bad things that could be causing it.

Only 3 of the 11 blood tests have come in and they are all normal so far, also. I will be sure to keep updating as we get the rest in.

Hurray for our healthy, amazing Josie!!!

MRI

We are already home (at 12:30 PM)! Everything went great. Josie came out of the anesthesia just fine and started asking for juice right away. She is, right at this moment, happy at home, sitting in her chair with a juice and a new Elmo coloring book...while her favorite Super Why episode is playing on TV. She couldn't be happier! And neither could we...I am so thankful that it all went well and that it is over! Thanks to everyone who was thinking and praying for her.

Oh, and the best part...they were able to get ALL her labs! It took them four tries, even though she was out, but they got them. Hurray!

Josie Update

Josie will be having a MRI and MRA, with and without contrast, of her head and neck on Monday morning. She was referred back to her neurologist after a routine doctors appointment because her head size had increased, again, not just in size but in percentile on the chart. She also has some very prominent veins showing on one side of her face and neck that could indicate some kind of pressure building up in her head. One of the things they will be looking for on Monday is hydrocephalus (fluid on the brain). I'm a little nervous about the procedure because this is the first time she will have to go under general anesthesia and, also, the first time she will have contrast die put in her. The good thing about the anesthesia, though, is that they agreed to take her labs while she is out. After eight months of not being able to get any, we hopefully will finally get all the blood work we need to rule out a whole lot of things!

Please keep Josie in your thoughts and prayers on Monday!

(On a side note, Josie is still as much of a genius as ever... I have some videos I will work on compiling in another post of her telling her letters, numbers, shapes, colors, and some really cute singing ones. She is definitely not being delayed by whatever is causing her increasing head size!)

Josie Update

Josie's appointment with the neurologist, today, went great! The results of the urinalysis were completely normal- so the concern of the metabolic disorder is no longer there. The doctor did not know why the first test came back abnormal but she did say it was possible that her "Next Step" soy formula could have caused it. We did stop the formula before her last test (and have not given it to her since) so maybe that was all that it was.

Josie's head did grow another 1/2 inch in the last four months but she stayed on the same percentile curve so the doctor said that was good. It is the very rapid growths and spikes on the curve that concern her.

As far as Josie's development, the doctor said she looks great. Ellie was reading some books the doctor had in her office and Josie surprised us by going up to one and pointing to a page and naming the letters O, P, and M and the number 6. The doctor joked that not only did she seem fine developmentally, but that she was a genius. :)

The best thing that the doctor told me was that she doesn't want to see us again. Unless Josie were to start showing anything concerning again, then we are done with the neurologist, done with the tests, and DONE with the worry.

Thank God for our healthy amazing little Josie!

(The girls being so good while waiting on the doctor.)

Josie Update

We have not yet gotten the results of Josie's second urinalysis. She had an appointment scheduled for Friday (the 20th) but since the results were not in, the doctor wanted to re-schedule. Her new appointment date is April 7th. I will post the results as soon as we get them.
Otherwise, Josie is just fine. She has shown no symptoms of anything being wrong and seems happier and more energetic than ever! She keeps us all super busy and we love it!

A Plan

I finally got to speak with Josie's neurologist this afternoon and I feel a lot better about everything. She told me that an arterial stick is very painful (she's had them personally on her) and that she would not want to put Josie through that unless absolutely necessary. At this point, she thinks that it would be fine to wait until the next urinalysis comes back to make that decision. If the glycine level should come back the same (slightly elevated) or even more elevated, then Josie will see a Metabolic Disorder Specialist (not an endocrinologist like one nurse told me). From there, we will decide whether to try labs again. The neurologist also wants me to move Josie's next appointment from April to March so that she can re-evaluate her sooner. She also told me to call her two weeks after we drop the urine sample off and that she would call and try to get it pushed through faster (something the nurse made it sound like was not possible) so that we would have the results before her next appointment. In the mean time, we are just supposed to watch for any negative changes in Josie (lack of energy, sleeping more than usual, any regression from things she used to be able to do, seizure activity etc.) and report anything right away to the doctor.
So that's the plan! It is a relief to have one in place and I'm looking forward to normal results from the urinalysis!

Still Waiting...

I was hoping to have more information to share before I updated, but the neurologist did not return my call today. So far, this is how the week has went. On Monday, the neurologist did call and said that we would go ahead and do the sedation for Josie's next blood draw. She said she would have her nurse set it up and then call me. The next morning, Tuesday, the nurse called and told me that she called both St Vincent (Peyton Manning's) Children's Hospital and Riley Hospital and that both of them told her that they do not do sedation to draw labs. She wanted me to call and find out who the nurse was that suggested it in the first place. It turned out that it was a transport nurse and not a regular ER nurse and that she just simply gave me wrong information. I ended up calling both hospital's outpatient labs, both ERs, and Josie's regular doctor trying to figure out what my options were. Each call ended up with me in tears because no one had an answer for me. The best solution I got was from the Riley ER charge nurse, who said that she was "confident" that she could get the blood with an arterial stick (from an artery) and if she didn't get it, then she would have an anesthesiologist try (without any kind of sedation though). The arterial stick is a lot more painful, I've read, and it kills me to think about putting Josie through that again without knowing for sure that it will even work. She has been stuck 9 times now (12 if you count the times at the initial ER visit) and every time, the person doing was "confident they were going to get it".

So today, Wednesday, I called back Josie's neurologist to see what she thought but I did not get a call back yet. I know she is planning on putting me in touch with a Endocrinologist who is a specialist in metabolic disorders and can hopefully give me more insight as to what other symptoms I should even be looking for. So far, the only symptoms Josie has are her macrocephaly (large head), those two little seizures she had at Christmas, and a slightly elevated glycine level in her urine. She still has the funny little blinking episodes (I'm not sure if I've even posted about them) but I have not yet caught one on camera to be able to show the neurologist. They are just really quick, little hard blinks that she does on occasion that I normally would think was nothing, but I would like the doctor to see it just in case it does indicate something. Otherwise, Josie is perfectly normal. She is super smart, has an amazing vocabulary, is strong, happy, and everything you would see in a perfectly healthy child. I do not personally believe that the labs will show anything otherwise, but I would sure love to have those labs just to prove it!

Oh and also, we are redoing the urinalysis. However, we have to take Josie off of her "Next Step" formula for a week first and then, once the sample is turned in, it takes 6-8 weeks for the test to work. So it is an option that we just wait another 2 months and decide what to do when that comes back.

I will be sure to update if anything changes!

No Call Today

The doctor did not call today. I'm sure I will hear from her on Monday- or I will just call her.

Three More Tries

Three more attempts to draw Josie's blood, today, were not successful. This time we went to Peyton Manning's Children's Hospital because I learned that if they are not able to get it within two tries, then they will allow the ER to do it. This was promising because the ER is able to draw from somewhere other than the arm or hand (which is the only places the lab will draw from). Josie had two tries, one on each arm, and then the ER nurse tried from her foot. The ER nurse explained that they are able find a vein but as soon as they stick it, Josie tenses up so much that the blood will just not flow. Josie does scream and fight (it takes three of us holding her with all our might) so I can see why it's happening. The vein actually blew in her foot which sent blood everywhere...not something a Mommy wants to see on her baby! The ER nurse said she didn't think we should try again without sedating Josie first, so that she would be relaxed enough to let the blood flow. However, they were not allowed to do it there without an order from Josie's doctor first.
I called her neurologist from the hospital and she said that although sedation was a possibility, she wanted us to wait and give her a chance to confer with a Metabolic Disorder Specialist first. She was going to review everything with him and see if he believed that it is truly imperative we get Josie tested for this right away. It is possible that we could wait and just see if any more symptoms of this disorder show up. She also suggested that we may do another urinalysis and see if we get any different results. She said she will call be back tomorrow with our next step.
So, it didn't work out today but we are not giving up! Thank you so much, everyone, for all the kind words and support!

More Prayers for Josie

I was surprised to receive a call from Josie's pediatric neurologist earlier today. She wanted to discuss the results of Josie's urinalysis that was sent to the lab 6 weeks ago. Josie's glycine level came back slightly raised- which could be an indication of a metabolic disorder. She wanted to know how Josie was doing, if I had any new concerns since our last appointment, and specific things like if Josie was talking, if she seemed to have low muscle tone or if she had been hospitalized for any illnesses or dehydration recently.

The specific metabolic disorder she is concerned about is called "non-ketotic hyperglycinaemia". It's pretty rare and usually has other symptoms besides seizures (like low muscle tone, developmental delays etc.) so, as of now, I am not too concerned that Josie has it. The doctor said the abnormal results could possibly be from something she ate that day (including her formula). Still, she said we absolutely must follow up on this and do further testing just to be sure. (If it is this disorder, it's pretty serious and without a very good prognosis.)

Unfortunately, the next test we need is a blood test (to check plasma amino acids) which has been a very difficult thing to do with Josie. She has been stuck 6 times, already, with no success. Our plan was to wait until she went back to the neurologist in April before we decided whether to try labs again. However, with this new finding, we will now have to try again sooner. I will likely take her tomorrow.

This is where I could really use your prayers! Please pray for Josie and whomever will be making the attempt to draw her labs. Please pray that we are able to get enough blood, without too much trauma for Josie, to test for this disorder.

Then, hopefully, this will be just one more thing that we can cross off the "Josie Does Not Have" list!

Thank you everyone for your support.

Non-ketotic hyperglycinaemia seems rare enough that I had trouble even finding anything about it on the internet. Here are the two sites I was able to find if you want to read more about it.

Non-ketotic hyperglycinaemia

What is glycine encephalopathy?


Also, I added a new label on the sidebar of this blog titled "Josie's Medical Updates". If you click there, all the posts with information and appointments we've had thus far will show up- along with anything new I post.

Josie's EEG

Josie had her EEG on Wednesday and it went well. They wanted her to sleep during it so we scheduled it at her nap time and I woke her up early that day just to make sure she would be tired. She did not like the "hooking up" part one bit but all her fighting completely wore her out and made her fall asleep almost instantly as soon as the lights were out. Then I just sat and held her for about 40 minutes. It was actually really nice...it's not that often that I have nothing else to do but to just hold Josie for that long.

I called on Thursday to see if we had any results yet and the nurse said that the doctor was looking at it and so far everything looked normal. She called back on Friday to answer some other questions I had but said that the results had not been recorded in the file yet but that she "was pretty sure they were normal." I was waiting to post until we knew for sure but now that won't be until Monday. But we are pretty sure they are normal. Thank goodness!

As of now, we are not going to be doing anymore testing unless Josie shows us otherwise that we need to. There is blood work that the neurologist would still like to be done but we are having a really hard time getting it. Josie has now been stuck 6 times (9 if you count the ER visit) and they have only gotten enough blood to fill 1 vial. There is eleven that need to be (partially) filled in order to test for everything the neurologist would like her to be tested for. Eleven! One of the phlebotomist at Riley said she has 27 years of experience and that Josie's veins are just very, very difficult. We are going to Riley where they only draw blood from children so I trust what she is saying. Of course it is traumatic for Josie during all these attempts. She screams and fights and it takes three of us to hold her still enough to even try. I made it through the first three tries (the day of MRI) but during the next three (after her EEG) I broke and was crying right along with Josie. It is so hard to put her through that when there is likely nothing even wrong with her in the first place. That's why we have decided to wait and see if we really do need to keep trying for those labs. She goes back to visit the neurologist in 4 months so I don't plan on doing anything else with her until at least then. (The neurologist agrees that we can wait as long as we are not seeing any other symptoms with Josie.)

For now, I am believing that she is just the same happy, healthy girl that she's always been, with the same large (but healthy) head that we've always loved, and the seizures were just "one of those things" that may never be explained but we will never see again.

Thanks again for all your thoughts and prayers and I will be sure to update if anything changes with Josie.

Our healthy, HAPPY Josie!

MRI Results

We just found out Josie's MRI results and everything is completely normal! Thank you God!

MRI

Josie did pretty well with the MRI today. The worst part was the waiting, once we got there, because she was so hungry. She couldn't eat or drink anything because she was being sedated so that was really hard for her. Especially since they were behind schedule and we didn't get in until 10:00 am (we arrived at 7:30).

They were able to do an oral sedation instead of an IV so I was really happy about that. She fell asleep within minutes but started fighting again as soon as they laid her on the MRI table. The nurses and technicians were so patient and just stood there beside her, in the dark, shushing and patting her until she was still again. Finally, they ended up giving her another dose of the sedative and then she was out. The actual MRI took only 30 minutes and Josie did not stir once. It was amazing because it was very, very loud. (Josie and I both had to wear ear plugs.)

Once back in the room, the nurses and I spent the next 3 1/2 hours trying to periodically wake her up. Finally, she opened her eyes long enough for them to let me leave with her but even now she is still very groggy and unsteady moving around.

But it's over with. Thank goodness! Riley Hospital is yet another great children's hospital that I feel so blessed to have so close. It is amazing that we were able to get her in so quickly, just six days after her first seizure!

Josie is still acting like a completely healthy little girl so that's what I'm expecting the results to show too. They will be in next week!

Thank you everyone for your prayers. :)

Josie's Pediatric Neurologist Appointment

Well, Josie's appointment today did not leave me feeling any better about what's going on with Josie. Instead of assuring me that it's probably nothing, the doctor instead rattled off about 20 things that could be wrong.

She watched the video I have of Josie's second episode and agreed that it definitely looked like a seizure. What she was even more concerned about than the seizures, though, was Josie's head size. Josie was born with her head size in the 75 percentile and it went off the charts (past 100) at two months. From there it has not only increased in size but in percentile as well. (She is now somewhere around 145 percent.) Her pediatrician never seemed too concerned about it, though. She did have Josie undergo an ultrasound of her head when she was around four months but since it came back normal, she just said we'd continue to watch it. Now I wonder if I should have insisted we see a neurologist a whole lot sooner.

The next step is a whole bunch of tests.

• Her MRI is scheduled this Wednesday at 8 am. They did mention that she will have to be sedated but I don't believe it's general anesthesia. A nurse is supposed to be calling me with all the details soon.

• The EEG is scheduled for January 7th.

• The doctor also ordered a whole series of blood tests which we can do at her regular doctors office. I am praying that they can get everything they need with only one stick since she is already healing from the three that it took at the ER. I'm not sure what everything is that is being tested with the blood work but I know some of them are for metabolic disorders.

• The last test is a urine genetics screen.

I am still, of course, hoping it is just nothing. Josie is right where she should be developmentally and the doctor even commented on how well she talked. Since she has shown no delays and has always been healthy then hopefully those two seizures were just some rare occurrence that we will never see again. All her tests will come back normal and we can just put this scare behind us.

Please continue praying for Josie!

Josie

I have a lot to share about Christmas and Ellie's birthday (can you believe she's four?!) so those posts will be here soon.


For now I just wanted to let everyone know what is going on with Josie. She had a couple of little seizures (called absence seizures) and so, per her doctors instructions, I took her to the emergency room on Friday. We were there about 7 hours and she had a CT scan and blood work done. Everything came back normal so we really don't know what caused the seizures yet. (She has not been sick and did not have a fever.) We follow up with a pediatric neurologist tomorrow who will schedule and EEG and MRI. She has not had any other episodes that we have seen and so I pray that all the tests come back normal and that those were all she will ever have. Please keep her in your thoughts in prayers!

A few things about the emergency room visit:

Each time we had to hold a hysterical Josie down to draw blood (three times), as soon as we let go, she said through her tears a really loud "thank youuuu!" A nurse told her she was breaking her heart she was so sweet...

I actually have the second seizure on video on my camera because I was recording Josie rocking on her horse when it happened. The doctor thought it was very helpful so something good came out of me constantly having my camera in hand!

When a lady came into the exam room to ask me my birth date, I told her it was "today" and the doctor said "Mine too!" I told her I was sorry she had to work on her birthday and she told me she was sorry I was spending my birthday in the ER.

Peyton Manning Children's Hospital is wonderful. As much as any trip to the ER stinks, the staff, nurses and doctor were all so great with Josie and made it as painless as possible. I am so thankful to have such an incredible hospital nearby.

I will share any updates here as we get them.