A day in the life of Leah.

This disease Leah has gives her some pretty horrible days. Here is a day in the life of Leah. 

She starts the day off great! She smiles all morning. 

She turns her head to see her brother (which she never did before). Tyler sings to her and she opens her eyes so wide, she moves her arm and gives him smiles. 

Leah has a pretty good day. That afternoon she takes a snooze in her new wheelchair (I think she loves her new chair she always falls asleep in it). 

Then she wakes up in a bad seizure. At that point she is exhausted and falls asleep again only to wake up to yet another seizure. The night ends with an extra dose of phenobarbital which totally knocks her out and she is done for the day. It makes me sad! I miss her when she spends so much time in her crib asleep because of seizures. I don't want to sounds like a downer. We really focus on the good moments. That smile I got and the connection I saw this Ty and Leah is so special and it gets me through the hard times. It's the only way to keep going. We have to have gratitude for all the small things.  I pray doctors can find a treatment. 

Finding the courage to let go!

My life changed when I let go! When I started accepting Leah's life and our life with Leah. I am so thankful I found the courage to fight this fight with a positive outlook.  It's a life I never thought I would get but its a beautiful life to be her mom. 

Lemonade stand for Leah

These awesome kids made a lemonade stand and donated all the money to Leah. They said "Here is money to help Leah's seizures". It made my day. Leah was having a hard day yesterday and this act of kindness just made my day brighter. 

Five days straight with only 3 seizures!

Leah did awesome last weekend. Friday through Tuesday she only had three seizures total. She was so alert and happy. We treasure these amazing days! Here are some pics.

A diagnosis...the day finally came!

Can you believe it? I still can't believe it. It's been a week since we got the diagnosis and I am still in shock. It took me a week to be able to sit down and write about this because again I am still in shock. Anyway, time to tell you all what my daughters condition is...actually I really want to start from the beginning if that's okay because it's such a neat story . We were very fortunate enough to be picked to have Leah's exome genetic testing done back in June of 2014. Our insurance would not pay for this genetic testing. Aware of angels donated this testing to us. Words cannot describe how grateful I am to my friend Season who started Aware of Angels, it really makes me cry to even talk about it. There are angels on this earth like Season, who have the most beautiful heart to help these special children. Aware of angels helped answer my prayers! Back in June all of us had our blood drawn for this genetic testing. We just received the results last Friday. It is not uncommon for results to take up to a year. In fact, the doctor told us that he purchased some new equipment or software (not quite sure which one) that just came out this Febuary for neurological conditions. They found her diagnosis because of this new modern technology. They found that Leah has a variant in her gene SCN8A. This is a sodium channel that controls our brain electricity. This is extremely rare, so rare that only 60 people in the world have this condition in the gene SCN8A. Leah is the only one with this specific variant in the gene. Unbelievable!!!!! We knew she was such a special little girl. The doctor assured me that nothing is our fault with her receiving this variant in her gene. I am not a carrier, Chad is not a carrier and all of my children are not carriers, it was a fluke mutation. He also explained that he will have his team of genetic doctors do everything that they can to help Leah and that they will try and come up with a treatment for her. I am so grateful for amazing doctors that worked on her case. They donated their time to us because they have such incredible hearts. I have had some very emotional times this past week, sometimes it takes me a little while to collect my thoughts. I have been reflecting back on everything that has gone through my mind for the past three years. This is hard for me to say, but I will have to admit that there has been times that I have been in fetal position sobbing to God to give us an answer as to why my daughter is so sick. I have yelled and screamed in pain because of not having answers (only to my husband and not in front of my children). The pain of being in the dark for so many years was unbearable at times. I told Chad a couple times that "how can I believe in God anymore. I am not asking him to cure my daughter I am only asking for answers. Why can't God give me an answer for my daughter". It took three years. I never gave up but I had to sort of go numb for this past year so I could survive. The tears are flowing right now...I have to say...God never left me! It was his timing, not mine. He gave me special moments of peace that carried me through. His timing is the right timing for us. Maybe I wasn't ready yet...it needed to be the right doctors...the right resources...the right technology. When the doctor told me about Leah's diagnosis I had nothing but peace come over me. God is real! He knows us. He loves us. Please don't ever give up when you are experiencing hard trials. Push forward...every single day! It will be okay! I don't know what Leah's future holds. I do know that I can do it. Through all the pain...I became stronger! I love Leah so much! I am so grateful she chose me to be her mom. She knew I could do this. God knew I could do this. It just took time for me to get there! I am so grateful they both patiently waited for me. 

Rare disease day!

On Friday Febuary 27th we went up to the Utah State Capital to celebrate Rare disease day. It turned out great. There were many speakers who spoke on living with a rare disease and parents who have a child with a rare disease. People of the Legislature spoke and some medical professionals. My sweet friend Season spoke about Aware of Angels. She did such a great job! The Governor declared a Utah Rare Disease day, that was also very neat. Chad and I attended a conference that next day at the U of U for Rare Disease day. It was very good, we learned a lot. We are so grateful to know so many incredible families who are fighting such a hard fight with a child with a rare disease.