Wednesday, November 23, 2011

Genetic Answers

When the NICU nurse told me that it wasn't normal for Juliana not to be eating, I cried. I didn't know the ramifications of her statement but I knew that this wasn't good news.

When the pediatrician told me that we should seek genetic counseling if we wanted to have another child, I cried some more. She wisely suggested an anti-depressant.

When the neurologist said that it was time to order genetic testing, I cried again, but by this point I was becoming accustomed to the tears. We drew the blood and I promptly tried to forgot about it.

When the initial genetic testing came back with normal results, we were happy but we weren't dancing in the streets - we still knew that something wasn't right. The microarray testing was good in that it eliminated many different syndromes and it helped narrow the focus.

We waited six long months for an appointment with a geneticist. That appointment was today. I am thankful for the long wait because I have needed every bit of that time to come to peace with Juliana's health.

I thought I might cry at today's appointment, but I didn't. It was actually a very good appointment. I was glad to have David with me today - I knew that there would be a lot of information and I wanted him to hear it first-hand.

First we met with a genetic counselor. She reviewed Juliana's health history and she asked us about our family's backgrounds. She asked about research that we had done and if we had any inclinations as to what kind of syndrome that Juliana has. David and I gave up trying to diagnose Juliana a long time ago, there are SO many genetic disorders and we didn't see the point in trying to filter through all of them. There were a few genetic disorders that I was especially afraid of and I held my breath a bit when the genetic counselor told us that they had a theory as to which syndrome we were dealing with.

After awhile the doctor came in. She did a physical examination of Juliana which confirmed suspicions of the suspected syndrome.

And, drum roll please.... it's called Kabuki Syndrome. I'll be surprised if anyone has heard of it as it affects something like 1 in 32,000 people. Juliana will have a blood test to see if she has a mutation on the MLL2 gene, however the test comes back with a positive result only about 50% of the time. Even if the test is not positive, she will still be considered to have Kabuki. The test on the MLL2 is very, very new and there could be another gene that also causes the syndrome. Genetics is a rapidly changing field and I am sure that as the years go by we will know more and more specifics about Juliana's syndrome.

David and I were rather relieved by the diagnosis. No, it isn't "normal;" it isn't typical. She will continue to have many challenges. But it's not a regressive condition. There is not a shortened life expectancy. She will undoubtedly have learning disabilities but there's the chance that they could be mild. There were only two concerns that we took away from the appointment. The first is that there is always the possibility that she could have seizures. Although she has never had a seizure, it is something that could show up later. The second is that there is a possibility for hearing loss.

I did cry again today... but tears of relief. It's good to have a diagnosis. I didn't realize how much it would mean to me to have a syndrome with a name.

Tuesday, November 22, 2011

The Osteopath

Yesterday we saw an osteopath. What's an osteopath, you ask? I had no idea either. I guess you could say that an osteopath is like a holistic MD. They receive the same training as medical doctors but with more emphasis on "hands-on techniques to restore normal functioning". They believe that the body has abilities to heal itself:
In Osteopathy, the structure (anatomy) of the body and the function (physiology) of the body are interdependent. The Osteopathic physician works to remove any "roadblocks" to function and allow the body to show how it can heal itself. Examples of "roadblocks" are blockages in the flow of blood, fluids, nerve messages, tissue, energetic pathways, etc.
This is something that I wanted to try because Juliana undeniably has some sort of "roadblock" particularly when it comes to her low muscle tone and developmental delays. I respect modern medicine (allopathy) very much as it has literally saved Juliana's life on several occasions. However it's not getting us much further than that. As of this date, Juliana does not even have any sort of diagnosis for her health issues. I want to do all that I can to help her and even if we manage to shove a roadblock only a little bit out of the way - that would be a very good thing indeed.

I expected our visit to be some sort of hybrid of a chiropractic adjustment and a consult with an MD. Ultimately it was more like the chiropractor than the MD. I'll be the first to admit that it seemed a little goofy. However I can tell you that in the middle of the session Juliana went from crying to sleeping. She never falls asleep that easily or quickly so I am sure that something was going on. (I was curious if this would happen since Ellie just experienced something similar with a physiologist.) 

We'll go back again in a few weeks. Unlike chiropractors, osteopaths don't want to see you over and over again. You go a few times and then you're supposed to be fixed up and that's that. So the worst case scenario, I've wasted my time and money. But if he was able to move one roadblock just a tiny little bit... then it was worth it. 

One last note... if you want to see an osteopath, ask around for recommendations. Many are more like MDs and less "alternative" (for lack of a better word). Our osteopath came with a recommendation from a Weston A. Price chapter leader.


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Saturday, November 19, 2011

Physical Therapy

About a month or so I began to suspect that OT wasn't cutting it for Juliana. Either she wasn't getting enough therapy or she wasn't getting the right kind of therapy. The neurologist had told me that I could expect her to begin to sit up around 8 months old. Honestly I think she pulled this age out of a hat while I was in the waiting room, but it's a statement that has stuck to me and I began to get nervous as time went on. Juliana was no where near sitting up. I decided to get a second opinion from a PT.

Our evaluation was two weeks ago and as expected, it was pretty depressing. Juliana scored at a 4 month level in two areas and only a 1 month level in a third area. The 1 month score was harshly low but had to be scored that way due to lingering torticollis. But I liked the PT, I liked the facility, and I liked that I was already learning some new ways to help Juliana.

We had out first real PT appointment yesterday and it went really well. Juliana was in a great mood and she warmed up to the therapist immediately. Baby J cooperated for the whole session - I am crossing my fingers that she will always do so well in a fun new environment vs. our boring living room where we usually meet with our OT.

I learned some great new things that will hopefully be easy to implement into our daily life: joint compressions to wake up her sleepy joints, arm strengthening exercise so that someday she will be able to prop sit, and how to get her to do a baby sit-up. These are all things that are new to me and I'm a disappointed that the OT (who surely must know this stuff) did not show them to me earlier. I am not sure if we have a dud OT.

So I feel like we have lost a bit of time but we're now on the right track. We're getting PT at least one time a week or two times a week if it works for everyone's schedule. I am trying to squeeze in a lot of appointments before the end of the year while I still have awesome insurance.

Saturday, November 5, 2011

The week in review

We had a very busy week - six appointments! Because we automatically have three appointments each week (1 OT, 2 craniosacral) it usually happens that at least once a month we will have a crazy week like this. But it was a great week with positive feedback from everyone we saw.

On Monday we saw the feeding therapist. She was really impressed with how well Juliana was eating her baby food (pumpkin). In a nutshell she said that I am doing everything right and agrees that J has come a long way. Hydration/liquid calories are the challenge at this point because J drinks very little. Juliana went over a month where she didn't have anything in her mouth and as a result she forgot/lost her suckling reflex.

Also on Monday we saw the OT. Juliana cried through most of this appointment so we didn't get to work on very much.

On Tuesday we saw the opthamologist. He was pleased with the way her vision has progressed. Her skills are on the rudimentary side but she is improving. I like this doctor very, very much - if you need a ped opthamologist in Atlanta I will be happy to pass along his info.

On Wednesday we saw our craniosacral therapist. He thought that her tone had improved. I don't really know what to think about that, her tone is a weird thing. She has low tone but at the same time she is strong. At any rate, I'll take the positive feedback.

On Thursday we saw the GI. Our GI is another doctor that I like very much. He seems to really care about Juliana and he will spend half an hour with me just to answer my questions. Both those things are a huge, huge deal. He thought that the site of her button looked incredible - although she has very sensitive skin, she has not had any trouble with the area around the button. A lot of people have trouble with granulation tissue but it looks like we won't.

He noticed that she was slipping in the weight charts (which is true and something I've been a bit concerned about) and he wanted to increase the calorie concentration of her formula. However that might not be necessary after all, as we may be having success with a homemade formula... more on that later.

I was really pleased with the visit. He was happy that she was doing well without reflux medications (I think that is pretty huge in the world of tubie kids). He was happy that she liked solid foods and he made a comment that this will be our "saving grace." I told him that I thought that she still reacted to Elecare and he agreed that it sounded like she did. I love it when doctors agree with me!

All in all, Juliana is doing well right now. I know that we're making progress because the things that I worry about are beginning to shift. Initially my number one concern was her gut and her digestive health - after all, how much progress could I expect if she was always in pain? Now I think/hope/pray we're beginning to see improvement there and my concerns are shifting to her spine and her developmental delays. Shifting concerns are a good thing, I think.

I'll close with pictures of my two little munchkins.