Rare Disease Day!

Friday was Rare Disease Awareness Day and I would  be remiss if I did not dedicate this post to my sweet girl, Mariah. 

We were fully aware of Mariah's Adrenal Insufficiency before we committed to her file. Quite honestly it really didn't matter. We knew she needed a family and we were called to adopt. 

We thought we knew a lot about this disease before traveling. We were wrong! In fact, we are still learning. I dedicate many evenings researching this rare disease. In short, Mariah's adrenal glands do not produce the life-saving stress hormone, cortisol. As a result any illness or trauma put Mariah's life at risk of an adrenal crisis. 

Here is a different logo made by a friend recognizing Rare Disease Awareness. Thanks Laura, for making these for me.

After much research and priceless friendships with a few other mom's of children with adrenal insufficiencies we decided our first endocrinologist was not a good fit. We tried. We begged. He was adamant that his treatment plan for Mariah correct and we should just listen to his recommendations. After calling other endocrinologists in-state, we gave up. Another mom, Kimberly, got of hold of her endocrinologist who is the head of the Pediatric Endocrine Society.  He came back with one recommendation. We emailed this doctor and she returned our email within 20 minutes. Pittsburgh Children's Hospital was our new place!

Our insurance has denied her coverage. We appealed their decision three times and have been denied each time. We even wrote a very strongly worded letter to the medical director. We explained that we have tried the doctors here. We are not interested in our daughter being a doctor's guinea pig while he/she at some point attempts to treat our daughter with inadequate or outdated information. 

We decided that Circadian Rhythm dosing made the most sense. This dosing schedule mimics how healthy bodies naturally produce cortisol. We dose her 4 times daily. It has become a way of life for us. As a result of tweaking those doses and checking labs every few months we have continued to successfully lower her dose of glucocorticoid medication. When she is sick, we have to double or triple her dose and give her medication every 3 hours. This while praying she does not go into an adrenal crisis. We witnessed a crisis last June. We are not interested in watching our daughter suffer through a crisis again. She became listless and mostly unresponsive in our arms. It was scary. We had to give her an intramuscular injection of Solu-Cortef in her thigh. She barely flinched. It was not fun.

We would love for others to become a little more aware of the seriousness of this disease. It truly is life-threatening. Since it is a deletion in her DNA, there is no cure. She will always be dependent on hydrocortisone. This is why she wears a medical bracelet. 

Please pray for us as we navigate the whole process of insurance and education. As a result of Mariah's poor medical treatment from our first doctor, she had hypertension, a voracious appetite, and weight gain. She is now managed beautifully and has normal blood pressure, is a healthy weight, and is a healthy eater. 



On Monday I also got a very special package from FedEx. My Mother's Ring came! We ordered it online and I have to admit that I do like it. (Just ignore the dry hands.)

We have six kids but have birthdays in four only months.......January (2), February (1), June (1), and December (2). If we decided on a Family ring that would add another January and December stone. We did not plan that very well!

Friday included a trip to the hospital for Ben's echocardiogram. It is more than safe to say he had a tough time lying still for the echo.

Hopefully those results come early this week and we can scratch cardiology off of Ben's list of doctors he needs to visit.

This is definitely worthy of a blog mention.....

They were actually getting along! She was wearing Ben's robe as well.

One evening at dinner Selah decided to jot down a few things in Chinese. I thought it was so sweet that I kept the napkin. She wrote Jeremy's name and mine in Chinese. Then she drew an arrow and wrote the initials of all of our kids.....K.M.B.B.M. Then she wrote her name in cursive.

I also discovered that she prints beautifully but never learned cursive as there really was no need.

Selah has managed to figure out her own name in cursive by looking at the adhesive writing strips on the kids' desks. She is one determined girl!

I will be dedicating the next few weeks to teaching her cursive handwriting.

This weekend we also saw the first tears from our girl. We had a conversation with her about a few of our concerns. She cried. Parenting a hurt child is a completely different experience. I can throw out everything I have learned raising all of our biological kids over 15 years. Grace, compassion, consistency, and patience are a must.

We also decided it was time for her to attend Sunday School class. Selah did not want to go into the classroom. However, after a few minutes she relented and attended Rebecca's class. She returned to the church service all smiles.

Tonight as I hugged her goodnight and told her how much I loved her she hugged back. Then as I turned to walk away she grabbed me by my shoulders and hugged me with the biggest heartfelt hug I have every received from our sweet girl! She said she loved me!!!!!!!!! I've seen it in type before but never heard her say it.

She also has more often referred to us as "mom" and "dad". It really is music to our ears. 

Jeremy and I are amazed that our daughter is not bitter. She has every right to be considering all she has endured. However, she has begun to open her heart and allow us in a little at a time. She is sweet and compassionate. She can love! She is beautiful! She is ours!

A verse that seems to stand out to me right now is this:

Ecclesiastes 3:11 He hath made every thing beautiful in his time: also he hath set the world in their heart, so that no man can find out the work that God maketh from the beginning to the end.