Tuesday, July 03, 2012

Follow-up Frenzy

Yabba Dabba Do!
As promised, I’m late as usual. Much to chat about so here goes…

A shake out from the CHC neuro-metabolic clinic finding the CDKL5 diagnosis for Ava was a speedy visit to their Rett Clinic which transpired in early June. We met with many providers; it was over 6-hours in clinic and we have already completed follow up labs and things of the like with at least four other clinics. Needless to say, June was a busy month.

We have results from some additional GI testing. She tested negative for celiac disease but the immunoglobulin (IgA) test they ran with it raised the questions/probability of a false positive. We are headed for an upper GI endoscopy, later this month. They drug me kicking and screaming into another trial of Prilosec to avoid some OTC remedies I don’t feel she would benefit from. The GI report noted I was reluctant to treat…go figure ;)

We followed up with our Epileptologist a few weeks ago and finished the day visiting the cardiac clinic; leaving with a 24-hour cardiac event monitor for the next 30-days (I’m hoping it doesn’t go on this long) to follow up on an abnormal EKG/ECG she had in April. She will also have an echocardiogram when we follow up on holter events. This contraption and I are not friends. Ava wouldn’t mind chewing the leads in half; I’ve caught her trying more than once. The box says it’s a pricey piece of technology. I hope it survives this house. I’m sure BCBS wouldn’t mind denying that charge. It is also doing a number on her extra sensitive skin so I give her at least 6-hours without/daily.

We have a sleep study+EEG scheduled for early fall, on the waiting list and hoping to get a call before school starts. We also have some OT consult for white cane modification with an old friend from her preschool days. She was measured for ‘pattibobs’ and had some success at her dental cleaning in the form of X-rays….not under sedation! Poor kid has much more we have yet to explore.

Clinically speaking, here are some snippets from the lengthy Rett Clinic report:
  • Atypical/epileptic/Hanefeld Rett variant with CDKL5 mutation. Associated visual impairment.  Ambulatory with hand stereotypies but non-verbal. CDKL5 mutation has not been reported.
  • Medically refractory epilepsy.
  • Significant sleep disturbance/poor sleep.
  • Some CDKL5 gene mutations change a single protein building block (amino acid) in a region of the CDKL5 protein that is critical for its kinase function. Other mutations lead to the production of an abnormally short, nonfunctional version of the protein. Researchers are working to determine how these changes result in seizures and the characteristic features of Rett syndrome in affected children.
  • The far majority of cases are single occurrences in a family, resulting either from a de novo genetic change in the child with a CDKL5-related disorder or from inheritance of the disease causing mutation from one parent who has germline mosacism (germline mosaicism-Two or more genetic or cytogenetic cell lines confined to the precursor (germline) cells of the egg or sperm; formerly called gonadal mosaicism. 

On a lighter note; we visited the Black Hills for a short stay with my grandma recently. On the way there we paid Bedrock City a visit; a few things have changed since I was a wee one and both girls enjoyed. Aliza demanded to once again hit up Dinosaur Park and Storybook Island as well. The trip was exhausting, hot, & loud…always good to see the family.

Hold on Ava and Grandma.
Aliza (and I) are adjusting to summer with Ava. I wasn’t successful wrangling in any help so it is a big adjustment, as always. Aliza finally is coming to the realization that her sister will have some significant challenges for the remainder of her life. Aliza is amazingly smart and manipulative for her ripe 3-year old self. Perhaps my biggest summer challenge is with her, she doesn’t cut me much slack in the rope.

Oh, Christopher Robbin.

I will make her pose by Poo every year we go.
Ava really liked Tigger!

After her "Stegosaurus Performance"...it was priceless!
Fires and extreme heat are not helping our outdoor adventures. I’m teetering on the edge of ugly cry and bat shit crazy drinking binge :/ Great thing the CDKL5 community has been a diamond in the rough. Ahhh fall how I adore you! Be safe this 4th of July holiday.

1 comment:

Summer said...

Thank you for the post Taz, we are always interested in how things are going for you all!!!! The girls are both looking as cute as ever!!! Sending hugs and love to you guys!!! :)