oneinthirteenthousand: June 2013

This coming week is nothing but busy for us! Looking at our calendar has me a little overwhelmed. The sad part is the calendar is chock-full of nothing but appointments. Most people spend summer vacationing, sleeping in, and chill-axing. I'm positive that someday soon we will be vacationing in Tahiti or surfing the shores of Hawaii or better yet embarking on an Alaskan hunting adventure but for now we will visit our devoted docs at CHLA and UCLA and sneak in some time with GMa in SoCal.

Tomorrow we get the pleasure of meeting Lori. She is an Occupational Therapist that will be coming in to our home once a week to spend time with HMae. I couldn't be more excited about this meeting. I have heard amazing things about Miss Lori. She comes with recommendation from our dear friend Tammy and her colleagues rave about her.

Sadly, our Speech Therapist has decided to move on to working in the school system. We are happy for her new adventure and were truly blessed to have spent some time with her. She has helped Haddie tremendously. When she started working with her, Haddie could mudder Mama and Dada and the rest was a foreign language:) She now is speaking more clearly, recognizing letters and their sounds, and can communicate most of what she wants either through signs or words.

We will return to UCLA to visit with Dr. Martinez in Genetics this week also. Results returned for Haddie's microarray and PTEN. Thank the good Lord PTEN was negative. The microarray for BWS was also negative which kinda sucks! I'll be honest. It would have been nice to have some piece of mind, a closed chapter, but instead we have to keep digging to find where, how and if BWS lies in Haddie's genetic makeup. As of now Haddie is only clinically diagnosed which means she has enough characteristics to show that she has BWS. The truth is they don't know everything about BWS and are learning more everyday. Even if we don't find an answer maybe our genetics results will help contribute later on. Dr. Martinez has asked the Hubs and I to also have our blood drawn as well as Haddie's again so that we can send them off for more testing. Her microarray also showed a homozygousity at chromosome 6 so our resuls may help figure out a little more.

After we meet with Dr. Martinez the following day will land us at CHLA for a VCUG procedure. A VCUG is a procedure where they insert a catheter then fill the bladder with a radiocontrast agent and then take X-rays as her bladder voids. This can help determine if vesicoureteral reflux is occurring in Haddie's kidneys. This procedure was done once before when Haddie was one month old. I have to admit I am not looking forward to wrangling miss HMae to lie still for an X-ray surely she will not comply:/ It should make for an interesting day. Nurses and Doctors are always in shock when the witness her super toddler strength. She will also have an ultrasound following the VCUG. Wish us luck!

We will leave CHLA and head to GMas to spend the afternoon there.

The following day we will end up in Santa Monica to meet with Dr. De Filippo who preformed Haddie's kidney surgery. It is just a follow up appointment where we will go over the results of all the testing. Then we are free to head home.

Hopefully we will be able to sneak in some fun here and there. Otherwise these hospital trips become a little monotonous.

I am so very grateful that The Hubs and Koen are coming along on this trip. I think it will be good for them to see what our hospital trips entail. Surely they think we shop the entire time and while they are not all wrong there is a lot of not fun stuff that happens that makes the shopping almost necessary.

I would love to know how your BWS kiddos are doing. Send me an email at mdkhughes@gmail.com.

Here are a few of my favorite pics recently.

This is Miss Shannon she is HMae's Early Interventionist.