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!

Bike Fun!

It was in the high 50's today so we were finally able to enjoy some time outside! We met some friends at the park and all of the kids brought their bikes and rode around the tennis court. This was Josie's first time on a tricycle and she loved it! She cannot reach the pedals, yet, but she still was able to move around the whole court.


A funny picture of Josie after falling in the mud. She was asking me "five? five?", trying to get me to give her five!

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- Future Stunt Girl

A couple of weeks ago, I found Josie standing on our table. Well, last night, I found her about to skateboard on a table! Thank goodness I caught her just in time! (It's Ellie's skateboard, who is very responsible with it...I just hadn't thought yet about what kind of trouble Josie might cause with it!)