Still on the Journey...

So where to begin? A lot has happened this month since my last post, I guess I'll start where I left off!

Areli had a brain MRI earlier this month, which I will spare you the horrible details of.  All in all, after a day full of bumps in the road and a lot of tears from Mama and Areli, we learned that Areli's brain is normal!! Which means that we have a better chance of being eligible for a transplant, if that day should come AND it means that the suspicion of seizures is gone! The "seizure-like" movements she does turn out to be a movement disorder, which should resolve itself.

This month Areli also demonstrated another symptom of mito. When a persons body is energy compromised, a day in the sun, stressful situations, or too much activity can cause an energy crash. An energy crash can result in a minor to major crisis in the body. A few days before her MRI we spent a whole fun filled day outside in the sun with family and friends. Areli seemed tired, throughout the day. Her eyes seemed very droopy and she was just not as active as normal.

Notice she isn't focusing her eyes.

That evening after she was asleep for the night I noticed she had a fever 103F. For the next two days Areli struggled with regulating her temperature and exhaustion.

She slept all day for two days and refused to eat or drink anything but milk. Our day out in the sun took so much energy from her it took two full days to recover. She ended up having another energy crash after her MRI which ended with another scary high fever and lethargy. We are now learning how to monitor Areli's energy and heat intolerance so that she can still enjoy the summer without the repercussions. 

Areli's gene results also came back this month. If you remember we have been waiting on this gene work for 3 months. We were hoping with these results we would know more about her specific disease and prognosis. The 4 genes in Complex III all came back normal. Which sounds good, but actually isn't. The doctors have absolutely no prognosis and we still don't have a specific diagnosis. There is only so much they know about this disease. They know Areli has complex III, yet the genes in complex III are normal, doesn't make seems huh? Unfortunately, there are A LOT of unknowns with mito. So in an effort to find her specific mutation we at doing an entire DNA sequencing. They took my blood, Daddy's blood and Areli's and will try to find a mutation. This will take years to do. In the mean time we are testing a few other genes associated with specific liver involvement, but it is looking like we will not have a specific answer for years, which is pretty common in mito. 

Areli will also be getting a skin biopsy in a couple weeks and will see a cardiologist to rule out heart involvement. We are also starting her on her "mito cocktail" ( the only treatment for mito which is different supplements and vitamins).

Ahhhhhh... It's Been Awhile...

It's been awhile since I have written. This has been the longest Areli has gone with out any major appointment or procedure- about a month! It has been nice to just sit back and be "normal", so I took a break from all the medical posts. This is also the longest she has gone without getting a blood draw- but that will end soon.

Although this quiet month was welcomed and enjoyed, it didn't go completely without incident. Areli battled another cold, which left her with a double ear infection and a dose (or 20) of antibiotics. She is still pulling on her ears, so I am not convinced they did the trick. We also received a call from Dr. M (Liver specialist) and Areli's ammonia levels were elevated in her urine, so we need to do blood work to check if the ammonia is in her blood or not. Elevated ammonia is another sign that the liver is not doing its proper job and too much excess ammonia is very dangerous.

There were also positive developments in Areli this past month! She is starting to trust more people who are important in her life. I, personally, think this is because this is the longest she has gone without someone "hurting" her, so I am sad to have to bring her to the next blood draw. She also has become just a little crawling machine, which has eased some of her fussiness. Most importantly though, we finally went to her therapy evaluation. Areli did very well and it was decided she would only need speech therapy and learn-to-trust-other-people-and-separate-from-mama-at-least-long-enough-so-she-can-pee therapy. Okay, that last one may or may not be a real therapy, but we are doing it anyway!

Finally, today was our first meeting with the Miracles for Mito support group. I don't think I can sum up the meeting in enough words to fit in this post, it was that great! It felt very comforting to "belong" somewhere. All the families were great and welcoming-you could feel the support they have for one another. We had the chance to hang out with some of the coolest, most beautiful kids ever and I was able to meet and speak with doctors who will be important to Areli in her journey with mito. I am very thankful for this support group because without it I wouldn't know one other single person with this disease. It is already a scary road to be on and because of this wonderful group we don't have to be on it alone. I left the meeting today feeling very hopeful and uplifted.

As great as the break from doctors was, I am anxious to "get back at it". We have Areli's long awaited neurologist appointment Monday. The status of her brain will give us many answers as to which direction her disease may take. Stay Tuned...

 At the support group

Sleepy girl fighting her cold

Cuddles

We also celebrated big sister Leilani's 3rd birthday! 

HAPPY BIRTHDAY BIG GIRL! 

Love,

 Mama Linnea

Mild Portal Fibrosis

Everyone's heard of "stages" when it comes to cancer, like if someone catches it early they might be in "stage 1 cancer", it works the same way for organ failure. Specifically pertaining to the liver the stages are:

S0- no fibrosis present
S1- mild portal fibrosis
S2- moderate periportal fibrosis
S3- severe fibrosis
S4- cirrhosis (end stage)

In simple terms fibrosis is scarring. The healthy tissue is damaged by scarring which compromises the functionality of the liver. Cirrhosis is developed from fibrosis. When there is significant scarring the liver cannot function properly causing organ failure.

Areli's biopsy at 2 months old showed S0- no fibrosis present, her biopsy at 8 months old, just 6 months later, showed S1- mild portal fibrosis. We knew her liver disease was progressing, but not at this rate! It is hard to estimate how long it takes to progress into the next stage depending on the specific disease, environmental factors etc, each person is a little different. The "average" time it takes to go from S0 to S1 is 15-40 years and Areli did that in just 6 months. We've always known she wasn't average though. I was made aware early on in her medical journey that a transplant was a possibility, but it always seemed so far away, such an incomprehensible thought that my mind did just that, didn't let me comprehend that it just might happen. Before, while in S0 there was always that possibility of reversing the fat in her liver, there was always that option of no liver failure. Now, in S1, there is irreversible damage being done and since there is no cure for her disease the progression will continue and that incomprehensible idea may be reality sooner than originally thought. When she was first diagnosed with liver disease it was hard for my brain to accept and understand, but I overcame that, then she was diagnosed with an incurable progressive disease and I am (still) learning to accept it, now she is in S1 liver failure. I understand the progression of liver failure and her disease, but my mind won't allow me to comprehend that my baby is in stage one liver failure. Although it is only S1 at this point- to be on the spectrum is something inconceivable to me at this point. 
Don't get me wrong, I am more than grateful that Areli is as healthy as she is right now, many babies with her disease have died by her age or not met the milestones she has. It is not fair for any child to go through. No child should have diseases, no child should die, no child should suffer, no child should go through organ failure...

I just hope I am a match so I can give my baby my liver.

Love,

Mama Linnea

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

This..or..That

Mito has been on my mind every second, of every day since it was muttered to me in that doctors office one afternoon. I have consumed myself in complicated mito research, trying to understand the diseases and its many ugly faces. Learning, investing, and crying over little mito children and their story, their struggle, their victories, their journey. I couldn't relate to any one specific story though, because mito doesn't affect any two children the exact same way. Every one with mito is unique in their disease. So I spent my nights dreaming of how Areli would be affected. How will her disease progress? What ugly face of mito will I become accustom to? But every now and then I would make myself step back and remember, we aren't even diagnosed yet, it may not be mito. Breathe, and wait.

In the back of my mind I had hope the past 7 months would turn out to be a fluke of some sort and they would tell us her liver looked normal. That her enzymes went down and this would become just a weird unknown event and she would grow and live a normal little girls life... There is no way to describe the moment you are told your child has a disease. The moment the little bit of hope you had, dwindles away. A life time of obstacles, doctors, hospitals, unknowns flashes before your eyes.

Areli's biopsy results were in. Her liver is very fatty, which we knew, but most importantly her mitochondria is abnormal. They are doing more testing though, to get a definitive diagnosis. It is narrowed down to two possible diseases. Mitochondrial Disease ..or..Cholesteryl Ester Storage Disease This..or..That.

While Cholesteryl Ester Storage Disease (CESD) isn't mito, it isn't any more comforting. It is even more rare than mito, with even less research and knowledge. There isn't a cure for either. They both have unknown future/prognosis. Death is an all too common result of both diseases. They both scare the hell out of me. This..or..That.

I find friends and family asking me which we are 'rooting for', which is the less of two evils. Not that I can control or pick one (because frankly I wouldn't choose ANY) I have concluded at this point. I. Don't. Care. Either way my family's life has changed. Either way we have a battle to fight. Either way we have a BEAUTIFUL baby girl. Either way we will, SHE will survive. This..or..That.

This..or..That

This..or..That

This..or..That

It doesn't matter, THIS is what matters:

Love, Mama D