Boston and Dr.Khwaja

Ellie and I decided Boston really isn't our kind of city. Easterners just aren't friendly enough. I'm used to looking at and smiling to each person I meet regardless of when or where I meet them. Boston is not such a place where people understand us midwesterners. I got an education from the tech that put Ellie's EEG leads on. She told me all about the subway. Told me if we ride the "blue line," we should only look down and never make eye contact. Well, glad we got that cleared up. I guess I'm a curious person and I enjoy browsing the people as they walk about or stand cramped in a subway car. Apparently, I need to be intentional about watching my feet!

Aside from Boston being an anti-social place, we had a lovely time during our 3 day stay! We spent all the free-time that we had browsing shops and window shopping. Of course, that's about all we did was browse! What a spendy city Boston is! I just have to tell you about the 2 thrift/consignment stores we visited. One was run by a hip, young gal who I'm certain wore some very "high-end" brands. I browsed the jeans finding brands I'd never heard of and gasped at every single price-tag. I checked and rechecked the lettering on the front window - yeah I'm certain it said "USED" clothing. So, you can imagine my surprise when I found jeans upwards of $200 hanging on the rack! I quickly moved to tops, looking for those $2-$3 bargains that I adore at home. My hopes of a trendy "Boston" outfit were quickly dashed at prices of $29 and up. I CERTAINLY was not paying $30 for shirts that were used and that I could by at home for $2 any day of the week. Sigh. So forget those knee-high brown boots that I adored on the streets and in the subway. I'll have to admire from afar. I refuse to pay $200 for something used that squishes my toes and squeezes my legs.

Well, on to the purpose of our trip you're saying!? Indeed! As I was told by several of you in advance of our trip, Dr.Khwaja was so sweet, compassionate and all around wonderful. He looked at Ellie's EEG (which is a brain check for seizure spikes and activity), her walking, climbing, jumping, hand-use, eye-hand coordination, her ability to follow movement with her eyes, as well as her back (to check for scoliosis.) Dr. Khwaja was positive. He told us that Ellie has what he calls "Preserved Speech Variant Rett Syndrome.) Essentially, this means that Ellie has either been able to retain, or relearn how to make speech sounds and some words. He explained that other girls with preserved speech variant of Rett often retain the ability to use their hands and legs for much longer than girls without the preserved speech variant. He also said that they typically have LARGER heads than "typical" girls rather than the "shrinking" heads that most Rett girls have. How thrilling for a doctor who is "the authority" on this syndrome, to tell us that we have reason to hope and reason to expect great things from Ellie. It's been encouraging to us going forward that there are no "knowns." It helps us to know that while this is who Ellie is and how she functions today, that may or may not change tomorrow. He noted concerns about her low-tone, below average motor planning,

Dr. Khwaja told me that the team has NOT YET chosen for the IGF1 trial. He assured me that they would be calling and writing to let families know in January, as to who got into the trial. He told us that we meet all of the criteria for the trial and that our application would definitely be considered as they select the participants. We will be anxious to hear!

We left Boston hopeful for the future. We will schedule another visit for 1 year from now though I pray we will be part of the trial and seeing him much more regularly!

I pray that you all have a very blessed and merry Christmas season. We are truly blessed to be parents and to have such caring and compassionate people surrounding us.

If you'd like to donate to IRSF and Rett Research please do so here. This link will take you to a FirstGiving page I've created to explain my latest endeavor. I've set some personal goals and tied some fundraising goals to those training goals. I thank God for chosing me to be Ellie's momma and I pray for a cure to Rett for my blessing and my inspiration; Ellie!