Grateful....

I feel so much gratitude today. As you all know we have struggled with finding a doctor who completely understands Ella's medical condition. Her general blood work and genetic testing all came back normal again. This baffles our endocrinologist. She seems to think that Ella has some other condition, and recommended two geneticists (even though we've done a slew of genetic testing). I called those doctors today, and their next appointments are not until June. RIDICULOUS!

From what I have studied, I personally think that all of her symptoms are related to ONH. So, today I decided to go straight to the leading expert in the country on the disease. Dr. Mark Borchert at Los Angeles children's hospital. I called his office in hopes of at least getting an email address, so I can ask a few questions. I spoke with the office staff, who immediately transferred me to his research staff. A girl named Cassandra answered the phone, and I asked, "if there was a way to contact Dr. Borchert to just ask some questions, as I am out of state."

She said, "Well, I would love to answer some questions for you, as I am on the research team."

I was a little surprised that it would be that easy. I told her about Ella, and asked if they have dealt with weight gain.

"Oh, yes"..she replied, "this is a common question". She continued to speak in depth with me for 25 minutes (I actually ended the phone conversation...she would've stayed on the phone as long as I needed). I felt so validated, and held back tears of joy.....that I am not crazy. She said my doctors are doing the wrong tests. That the very first step, when weight gain is involved is a growth hormone stimulation test, which involves way more than just a needle stick. And, at the same time an ACTH stimulation test should be done. She said, generally speaking, giving growth hormone significantly helps ONH kids with slimming out. She also said, that onh kids with gh deficit usually carry the weight in their stomachs, cheeks, and hands. They look like babies because of this for a long time. At this point, Ella carries the weight everywhere, but it is definitely significant in her tummy, face and hands. She also sent me (through email) two studies to refer my doctor to. I don't know if these are the answers, but it is another step I can take, before heading to another doctor who 'can't find anything'

So, thank you Cassandra for being so sweet and understanding on the phone. Thank you Dr. Borchert for studying this disease. Thank you internet for allowing me to find Dr. Borchert and do my own research. I am so grateful for prayer, fasting, blessings and for our loving Heavenly father who is aware of all of our needs.

And now, how do you tell your doctor, who has studied for years, what to test for?

And Kerrie- here is my haircut....apparently, when I don't smile, I look ticked off (and I only have one eye). I do like the haircut though :)