Areli Is Full of LOVE.... But Not A Lot Of Fat..

Mito can affect multiple organs, especially ones high energy functioning like the heart. So today we went to see the cardiologists at Children's to look at heart involvement. Areli had an echocardiogram and a EKG done, which she did great at. What did they find you ask? Well they found a WHOLE LOT OF LOVE in that little heart of hers! But on a serious note pertaining to her mito her heart is looking/pumping great. Unrelated, they did find a PDA or Patent Ductus Arteriosus. The ductus arteriosus is a leftover fetal artery connecting the aorta and pulmonary artery. If this artery stays open after birth, it's called a patent ductus arteriosus. So if you're not a medical student, this means that there is a "leak" in her heart. In utero, the ductus arteriosus brings blood away from the lungs (since the baby doesn't need to breath), every baby is born with it, but since the opening is no longer needed it closes a few days after birth. It is common in premature babies for the ductus arteriosus to to remain open, but rare in full term babies. In a child with PDA extra blood gets pumped from the aorta into the pulmonary arteries, which can lead to the heart and lungs working harder and lungs can becoming congested. Areli has a relatively small opening, so we are hoping it will close on its own, otherwise a devise will be put in to close it off.

Even though her heart is full of love, her body is not full of fat. She is up about one ounce since her 9 month check up. One ounce in 3.5 months and this girl can EAT! She went from the 80th percentile to the 10th percentile, completely dropped off the growth curve. With the amount of calories she takes in and lack of weight gain we are concerned something is wrong. So we will take another trip to see Dr. M her GI specialist to try to figure out whats going on. Hopefully we can figure it out before she gets too skinny. I'm worried about this. Until next time.....

Love, 

Mama Linnea

Tighten Up Your Buns, Areli is ONE!

*This post is also being featured on the Miracles for Mito blog. Every week there is a different blogger, writing about what it is like day to day to care for a child with mito, or who live with the disease themselves. Check it out, new posts every Sunday!

Baby girl I can't believe you are ONE! I know everyone says it but this year has flown by! Your first year of life didn't go as planned.. You had to endure more hospital stays, procedures, anesthesia and blood draws than most adults. I wished at every moment I could take your place and feel the pain for you. You are one tough cookie, my love. Even though your first 365 days of life weren't exactly how we envisioned, you have lived and fought every second of those three hundred and sixty-five days. You have 10 perfect little fingers and 10 perfect little toes. You have a beautiful smile and infectious laugh. You are the best little sister and perfect little daughter. You have conquered your hurdles like an Olympic track star. You have accomplished things we weren't sure you would be able to. You are showing us you are stronger than we know. You have taught us patience, acceptance, perseverance, advocacy, and strength. You have taught us it is okay to cry. You have given me a drive and purpose- to be the best mother/advocate for you I can, and to raise awareness for Mitochondrial Disease. You have blessed us for a whole year and will bless us for the rest of our lives. You have thousands of supporters all around the world and you, my child, is spreading awareness of your disease before you can even talk. I couldn't be more proud of you and I couldn't be more blessed that you are ONE! Here are some photos of our celebration:

Areli's watermelon cake!*

 

Big sister Leilani eating a cupcake

Areli's cousins and Aunt.

*Watermelon cake recipe: it is really very simple, cut the watermelon to shape, frost with Vanilla Greek Yogurt (or any other flavor) and decorate with fruit! We crumbled chocolate and sprinkled it on the sides, but a good substitute would be crushed nuts- ENJOY!

And a piece of Skin...

Areli had her skin biopsy on May 28th. We did a skin biopsy to see if the Complex 3 is deficient in the  mitochondria in her skin, the same way it is in her liver. This doesn't mean there is something wrong with her skin, it is just another piece to her complicated puzzle.

Smiling before the procedure

She did great! Our girl took it like a champ! They took a pretty good size chunk of skin, she barely cried and then fell asleep before they even put the bandage on.

Cuddling with Daddy after the biopsy.

Playing at Oma's house after the biopsy.

Exhausted from the day.

Baby girl slept soundly that night and so far her biopsy sight is healing perfect! Just no swimming for 2 weeks :(

Love, Mama Linnea

Thank You

HELLO WORLD!
I have a couple updates to write, but as I sat down to start a post I realized just how loved our little Areli Rose is! I would have never imagined people from all around the world would be so invested in her story and journey. She has readers from 14 different countries!! So to all of you out there near and far (very far) I wanted to say thank you! Thank you for following, thank you for your prayers and well wishes. I just hope that Areli can inspire hope, rising against the odds and appreciation for  every moment because tomorrow isn't promised and today is beautiful! Most importantly though, I challenge each of you out there to educate 5 people about mitochondrial disease, and challenge them to tell 5 more people and so on and so forth. This disease kills more children than all childhood cancers, yet no one knows about it. Every 15 minutes a child is born who will be diagnosed with mitochondrial disease before the age of 10. We NEED to spread awarness. We NEED to find a cure. We NEED Mitochondrial Disease to become a household word. Thank you for your continued support my worldly friends!
Love, Mama Linnea

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