It's Official.....

We had another appointment at Children's today. This time it was with Dr. M again. It was like every other appointment we have had. I pulled into the over-crowded parking garage, this time I was lucky and found a snow banked spot near the front. I gather up Areli and our belongings and head for the main entrance. Everyone at Children's is always very friendly, a glance and a smile or a "have a good day". We check-in, get her hospital bracelet (which made Areli very happy she smiled as I put her jewelry for the day on her wrist) and head to the couches under the big letter "D" hanging from the ceiling. It wasn't long before we were called back. Then it is the process of getting Areli naked, weighing her, measuring her head, her height, temp, and blood pressure. Today she came in weighing almost a pound less than her last weigh in 3 weeks ago. Then Dr. M came to see us. Areli likes her (so do I). We start like every other appointment, how has she been? how is she eating? anything different? anything you are concerned about? I really wasn't expecting this appointment to be about much, I thought it would be just a regular appointment...
Dr. M starts to tell me that Areli does indeed have Mitochondrial Disease. Mitochondrial Hepatopahies(-of the liver).
I always thought the moment they told me what she has I would become an emotional mess, it's been a long time coming getting a diagnosis, but I guess because it has been a long time coming that I was ready for the diagnosis, I mean it's not like they just threw Mito at me, we have been exploring Mito for awhile now. I knew what to expect. We still have more specific tests being done to try to put an exact name to which Mito disease it is, then that will give us more of an idea of a prognosis, quality of life, etc that she will have.
we go on to speak about her "episodes" I wrote about last post. Since seizures are common in Mito we are now seeing a neurologist and will have to have a 24 hour EEG, which means another night in the hospital. Sadly, neurologists are a hot commodity because the next available appointment is for April 8th. If she has more episodes one after another again like last week they will admit her and we will be able to expedite the wait.
Then we spoke about how she lost almost a pound in less than a month.Since she isn't crawling yet and she is eating more because we have introduced more solid foods, there really is no reason she should be losing weight so we met with a nutritionist to see what we can do to up her calories even more!
 I wrote earlier this month about her needing physical therapy.(We haven't started yet). Since Areli doesn't babble (she just growls, a lot) they also want to do speech therapy. In an effort to do early intervention we will be starting speech therapy, physical therapy, developmental therapy, and occupational therapy. The works.
 Lastly, since Mitochondrial Hepatopathies is so rare, they asked us to participate in a research study. There are less than 200 patients in the entire country involved with this study. Basically they will follow Areli for at least 5 years through her journey with Mito Hep in hopes that they can learn more about this disease to help little babies in the future that are dealt the same cards as our Areli was. Although this study most likely won't help our girl, I strongly believe in letting doctors learn from our life and Areli and her experiences.

Love, Mama Linnea

Misconception

Areli is such a misconception. When we have a span of two-four weeks where we don't see a doctor, you tend to forget she is sick because she looks so 'normal'. That is if you don't notice her scratching her skin because her abnormal functioning liver makes her itchy. Or if you don't know that her struggle to roll over and crawl may be due to muscle weakness, not laziness. You may think she is spoiled or held too much, but her extreme attachment to me is because of countless pokes and procedures where I have handed her off to someone who 'hurt' her-she just knows if Mommy is holding her, she won't be hurt. Some people say 'she can't be THAT sick, she looks so healthy!'. Yes, my girl looks normal and appears to the untrained eye very healthy, but she's not. The disease that they think she has is progressive and even though she may appear normal it may not stay that way and I learned that this week. 

Areli has always been a difficult (for lack of a better word) baby. The past couple weeks she has been very happy, which we welcomed with open arms! It is truly amazing to hear her laugh everyday, because it is usually the opposite. While we were raveling in the joy of the new happy Areli, something was brewing inside her little unseen sick body. 

To make you understand more I want you to flex your neck muscles really hard until the point your head shakes very fast.

Areli started to shake like this. Her hands would clench, every muscle in her upper body tightens, she holds her breath, her head shakes for about 30 seconds to 2 minutes, then she exhales deeply or sometimes let's out a scream, then continues to play like nothing happened-happy and all. The first couple times I didn't think much of it, but then she started doing it upwards to 20-30 times a day. I called the doctor concerned she is having seizures (seizures are common with this disease). She has since stopped doing it so it is hard to officially call them seizures since the doctor hasn't been able to witness them (I tried to catch them on camera, but it doesn't do justice). We see the doctor next week and will discuss what to do from here. 

I realized that for the rest of my life I will be watching my girl for new symptoms, watching her for any sign things may be getting worse. Because that is the reality of a progressive disease-you will never be as healthy as you were yesterday. Okay, maybe that is a pessimistic way to think, but as soon as we relax into life, her disease seems to remind us it is still there.

Love,

Mama Linnea

Baby Steps

We were supposed to see the famous Dr.VH today, I was very anxious to see him, families fly across the country to see him. He is like THE MAN! Buuuut he had an emergency and had to fly to Europe. So we saw Dr.T. Areli likes her. She has seen her before and throughout our journey to a diagnosis, Dr. T has called often, just to check on us. We have been lucky, we have had great doctors throughout this. Dr.VH passed along everything he needed so D.T could fill in for him. To start, I guess I need to back pedal to Monday where Areli had bloodwork done to test for different mito genetic disorders like respiratory chain defects and lysosomal defects and more I just can't remember all the names. Today, Dr.T informed us that Areli's liver biopsy was VERY fatty. Worse than her biopsy from 6 months ago, which means her disease is progressing. Ironically, her liver panel is the lowest it has ever been. (?) confusing. My impression is they think it is mito over CESD.  However we are still testing for it, which is pending, and they believe if she does have it she has a milder form of Wolman's Disease. As for mito, her biopsy revealed Complex III Deficiency. This test usually takes 2-4 months to perform, but Dr.VH expedited it, so we got the results in a week. While I am happy he got it faster for us I have to admit I am very confused as to why. This doctor deals with SICK children everyday. These tests that take months are nothing new to him, so why'd he speed up ours? Like I said it sucks to be the family that needs VIP treatment, but if your child's sick, it's nice to have the VIP. Dr. VH sent off another piece of her biopsy to be retested to make sure this wasn't a fluke and if Complex III Deficiency is apparent again they will test 4 specific genes to find the mutation. We have hope that she would have a milder form of Complex III because so far no renal involvement has presented, however they tested her kidneys today to monitor them for involvement. Hopefully Dr.VH can expedite this round of testing as well!
Areli rolled over from back to tummy for the first time months ago, but didn't do it again, until the past couple of weeks she has done it a handful of times. She has never gone tummy to back, regardless of the amount of tummy time. She can push her chest up off the ground and working on getting her butt up. If I put her in the "crawling" stance she will stay like that for awhile, but not make any attempts to crawl. She loves to stand and will "walk" assisted, but will not roll over or try to crawl, so we are starting therapy to help her so she doesn't fall behind. Some babies skip crawling and go straight to walking, but I think if my girl is already going to have problems with muscle weakness she needs to start young building all her muscles to be as strong as they can be. I refuse to let her miss a milestone, so therapy it is!!

Love, Mama Linnea