Abi's Playground

We're back from visiting my family in Puerto Rico. One of the highlights (besides seeing family and eating amazing food) was seeing both kids play on the same playground I enjoyed as a child.  The playground is at my Abi's (my grandmother's) condo and these are some photos taken by my uncle.

Nothing better than little sister kisses.  

"Stay classy, San Diego."

We had a morning free before we left San Diego.  We took a driving tour of the city and took the kids to the beach.  It was Victoria's first time at the beach (she LOVED it) and Bertrand's first time touching the Pacific (achievement unlocked).

We then enjoyed the San Diego airport for over 4 hours, courtesy of hurricane Isaac.

Skyclubbin'.  (Photo for Suresh and Dave.)

Victoria in Venice

This year marked our 8th wedding anniversary. In celebration, Victoria and I tagged-along on Matthew's business trip to Venice, Italy. We were there for the past week.

Sadly, we were unable to take Bertrand on the trip. Bertrand couldn't miss school. (Besides, as we discovered, Venice is quite possibly the least accessible city ever!)

Fortunately, Bertrand was spoiled rotten by his grandparents for a week. Even knowing this, the three of us missed him terribly. Hopefully, with his continued improvement, he'll be able to visit Italy with us some day!

Here are some pictures from the trip--most are of Victoria. She was fussed over by every one--especially each Italian nonna she encountered. She also handled the plane flights like a pro. She turned 5 months-old in Venezia and celebrated with her first gelato!

Stem Cell Infusion Schedule!

Image from http://stemcellumbilicalcordblood.com/

Everything is officially a "go" for Bertrand's stem cell infusion! CBR, the company we stored Bertrand's cord blood with, has transferred his blood to Duke University and the Pediatric Stem Cell Transplant Program at Duke sent our schedule today (see below). We just bought our plane tickets! This infusion will likely do nothing for Bertrand but we have to try it given the successes there have been with other forms of brain injury.

It has been a pleasure talking you about your decision to come to Duke for Bertrand’s reinfusion of autologous banked cord blood cells. We look forward to see you all again. A schedule is listed below for Bertrand’s appointments here at Duke University Medical Center.

Monday, August 23, 2010

8:15am Please check Bertrand in at the McGovern-Davison Children’s Health Center (CHC), 4th Floor, which is our clinic. Bertrand will have vital signs taken, be weighed, measured, and have blood work drawn. The blood work will be drawn by a phlebotomist. The phlebotomist will attempt to collect the blood samples with minimal needle sticks. If the blood cannot be obtained by the phlebotomist, please have the phlebotomist see Colleen McLaughlin, Pediatric Nurse Practitioner, about obtaining the blood samples. Bertrand will also have a head circumference done (his head measured).

Colleen McLaughlin, Pediatric Nurse Practitioner, will take a detailed medical history and perform a physical exam on Bertrand as well as consent for his reinfusion.


Tuesday, August 24, 2010

12:15pm Please check Bertrand in at the McGovern-Davison Children’s Health Center (CHC), 4th Floor. Bertrand will be weighed, measured and have vital signs taken. After check in you are welcome to go to the gift shop located on the 1st floor of the CHC or the cafeteria in the main hospital for snacks. During this time Bertrand’s unit will be processed in our lab. There will be about an hour wait time for unit processing.

Bertrand will be seen by Dr. Kurtzberg after which time an IV will be placed by Dr. Kurtzberg so that Bertrand will be able to receive his cells. It is easier to start the IV, if you have made sure that Bertrand is well hydrated. Bertrand will be monitored in a room in the Valvano Day Hospital. You will be able to be with Bertrand the entire time. You may eat in Bertrand’ room if you wish. He will receive IV fluids for several hours after the reinfusion of cells. Bertrand will be seen by Dr. Kurtzberg prior to discharge.

Please bring Bertrand’ favorite toys to this appointment.

Wednesday, August 25, 2010

Please call Colleen McLaughlin at (919) 668-2657 to let her know how Bertrand did overnight. If all goes as anticipated you may return home.

We look forward to seeing you at Duke. Please have a safe trip to Durham.

State of the Pookie Report: May 2010

I've been feeling ground to a pulp (this may have to do with being completely black and blue from a few days ago when my knee gave out at the top of a flight of concrete steps causing me to tumble all the way down them--ouch), but I owe you all a long overdue State of the Pookie Report. Without further ado, here it is.

May 17th

Bertrand's EEG was "much improved". As you can see from the photo below, there were still plenty of (smaller) spikes but most of the underlying wave pattern disappeared. This is great news! However, most kids on ACTH have normalized EEGs after two weeks of treatment, so Bertrand's neurologist believes that a normal EEG may not be in Bertrand's future. We'll see.

May 24th

Bertrand's ACTH wean began. He went from two shots a day of 45 units (90 units total), to just one 45 unit shot of the ACTHar gel in the mornings. He literally got back in the saddle, as his 'roid rage was sufficiently lowered to attend hippotherapy for the first time since starting ACTH. It was his best session ever--with him complaining whenever the horse would stop. :)

May 25th

Bertrand's ophthalmology appointment was attended by his representative/therapist from Utah Schools for the Deaf and Blind. Bertrand has cortical visual impairment (CVI) and is legally blind. This was documented for the school district so it can be addressed at his IEP meeting on July 7th. Later that day, Bertrand picked up his totally rad AFOs, and he now needs larger shoes to fit over them. Time for new shoe shopping! Yay! (I LOVE shopping for baby shoes. They're so darn cute!)

A portrait of Bertrand taken by Jessie Lynne.

May 26th

Bertrand had a great occupational therapy session. He has become much more willing to bear weight on his arms and let things touch his hands. We're finally being able to fully enjoy many of his touch-and-feel books. This is a huge, new plus. Unfortunately, we're seeing myoclonus and tonic seizures in his sleep. Hopefully, these will go away with continued ACTH, as we have not seen a seizure during his waking hours since... MAY 5TH! In equally awesome news, Bertrand's 'roid rage is toning down and he is finally starting to eat less. Whew!

June 2nd

Even though his immune system will still be technically suppressed, Bertrand will be re-starting his preschool. He will be attending Mondays AND Wednesdays from 8-11 to make up for the month he missed in May. This will be a good test for his tolerance of increased school time and of the changes/progress he has made since ACTH treatment.

Another portrait of Bertrand taken by Jessie Lynne.

June 5th

Matthew will leave on a marathon of conferences and family activities through the end of June. In an effort to save my sanity, Bertrand's Abuelito (my dad) and his Auntie Aury (my sister) are coming to visit and arriving the day Matthew leaves. Abuelito will be staying for a week but Auntie A will be staying through July 5th! I am so excited! While she's here, Aury will be attending the University of Utah's School of Computing Entertainment Arts and Engineering Summer Program! I wish I could attend the program--it sounds awesome! :)

June 7th

Bertrand's follow-up EEG and neurology appointment should be interesting. At this point he'll be two weeks into the ACTH wean. Bertrand's Abuelito, who is a neurologist, will be attending the appointments with us. (Hey, Daddy? FYI, you're attending the EEG and neurology appointment with us. Love you! Thanks!) At the neurology follow-up we'll be discussing the ACTH wean, the prednisone/prednisilone titer and the possible addition of Zonegran.

A Crazy Week Ahead

Tomorrow afternoon, Bertrand, Matthew and I are flying out to Atlanta, Georgia. We'll be spending Labor day weekend with friends and family there--especially Bertrand's Second Lieutenant Uncle Boojie. Then Matthew will be flying back to Salt Lake City on Monday while Bertrand, Nana and I will be road tripping up the east coast!

From Atlanta, Georgia our next stop will be Chapel Hill, North Carolina to see Bertrand's medical team for 3 days of follow-up appointments at Duke and UNC. Then, Friday we'll be driving up to Annapolis, Maryland for Bertrand's first sailing trip! Aboard the "Sheets" (Nana and Papa's boat) we'll be meeting up with Papa Tom and Uncle Dan and Aunt Jess. What a fantastic way to end the summer!

From there on Sunday September 13th, I'll be flying back to Salt Lake City sans Bertrand (to finish painting the house) while Bertrand enjoys a week with his Nana and Papa and Great Grandma H in Arizona. Bertrand will be driving up with them on September 18th to be greeted by his freshly painted, brand new, big boy, bedroom! Yay!

September will fly!

Speech Therapy: Session 5/6/09

Speech therapy went well today, and play group would've gone better if B had been awake for it! :) (Bertrand is working on the sign for "friend" now.) Tomorrow morning we are flying out to visit family in Atlanta. Blog posts may be more infrequent as a result.

Genetics, assistive technology & May travel

This morning, Dr. Vandana Shashi, the geneticist from Duke University, called me. She, being the amazing doctor that she is, presented Bertrand's case to the entire genetics section at Duke! She was able to use the video that Dr. Eddie Smith (neurology) took to showcase Bertrand's movements and features. They are still befuddled but, as a team, they came up with some other tests they'd like to have run for Bertrand's spinal tap next Monday. Here is the email she wrote to Dr. Longo aftee speaking with me.

Dear Dr. Longo,
I am the medical geneticist who saw Bertrand Might last week. Your note on him was very helpful. As you know, it has been a challenge to find a unifying diagnosis for his features despite so many people thinking about him. I hope you don't mind me doing this, but I have a list of tests below that may be helpful. We have met here as a group after evaluating Bertrand and had some suggestions for further testing. Some of these can be done in a stepwise fashion, if the ones pending now are negative, but as you may agree, for CSF studies it would make sense to do all at the same time. I have listed the suggestions below, with the understanding that you may have thought of these already.

1. CSF studies- in addition to the neurotransmitters, get amino acids (simultaneous plasma AA), glucose (plasma as well), lactate.
2. Skin biopsy- send out for mitochondrial panel (Baylor)
3. DNA for Batten's disease (NCL)
4. Blood for mass spectrometry for the carbohydrate deficient glycoprotein disorders (Greenwood)
5. Urine creatine
6. MECP2 sequencing if microarray is normal
7. Urine polyol
8. Chromosome breakage studies

His mother told me that Allgrove syndrome and Menkes are being considered as well.
Please let me know if I can do anything else.

This afternoon, Bertrand and I went to The Utah Center for Assistive Technology (UCAT). At UCAT, Bertrand was evaluated by Scott. We tried a bunch of switches, switch adapted toys, and other goodies. Bertrand was not in the most receptive mood (he was pooping), so we'll try to go back sometime next week with Matthew. This is really Matthew's area. A lot of the programs and toys are so simple, it may be cheaper (and more fun) to rig things ourselves.

In our very first apartment, over 6 years ago, Matthew used X-10 to wire everything from the lights to the tv, stereo, coffee pot... you name it. We could turn it all on or off remotely--via web. At the time, I rolled my eyes. Now, we have to do it again, but for Bertrand, so the project will include placing mounted wireless switches in his crib, play areas, and eventually his gait trainer. I think Bertrand's daddy, grandfathers and uncles will have a blast with this!

At UCAT, I was fortunate enough to find out from Scott that there is a new cyber Pre-K in Utah! I gave him my email so I could get more information. I just love the cyber school concept. I'd been introduced to K12 before, and think it'd be a perfect fit for a special needs child like B. Since they have open enrollment here, I am going to see about putting him on the waiting list now, so, if he makes it to age 3, he could attend the cyber Pre-K.

Lastly, I finalized some of the dates we'd be visiting our family in Georgia. We'll be in the peach state from May 7 through the 17th to attend Bertrand's Uncle Booj's commissioning ceremony. Mother's Day will be spent at St. George Village with B's great grandparents, Bud and Rosina. We'll also be spending some time in the Blairsville area riding trains and playing with friends and cousins on Lake Nottley. Maybe we'll even swing by Augusta--who knows? :)