June 25, 2009

A Typical Day

  1. Speech therapy with Laura. We covered new toys, games and uses for the sign "all done".
  2. Occupational therapy with Chris. We covered holding a bottle, mobility and sitting in chairs.
  3. Estimate with Superior Painting. We waited all afternoon and, SLC miracle, he showed up!
  4. Preparation for Tour de Coops. We mapped all the addresses and planned our route. Yay!
Unfortunately, yesterday the lab at Primary Children's Medical Center didn't draw enough blood. We were supposed to go back today, but in the morning it would've ruined Bertrand's persuant therapy sessions and in the afternoon we couldn't leave because we were waiting for the paint estimate. (You know how similar 11am and 3pm are--I was really impressed that anyone showed up at all.) So, first thing tomorrow morning, Bertrand will be getting his blood drawn again and, as a reward, we'll go for a walk and a picnic at Red Butte garden afterward. A perfect close to the week. :)

June 24, 2009

My Birthday Gift!

Today, Matthew gave me my early birthday gift: I can finally decorate Bertrand's bedroom! I think most moms really look forward to making the little nest for their baby, and I am no different. I consider it an investment in B. An expression of love. A visible sign and reminder that we don't plan on losing him anytime soon. We aren't giving up on him and, given our celestial theme, he is also "reaching for the stars". Bertrand's room will be the very first room we decorate in our house which accurately denotes where he is in our priorities: first.

Here are some of the items I am looking forward to addressing in Bertrand's (a.k.a., the Dark Lord of Bertronia, according to his Daddy) new chambers. Gosh, isn't that quilt cute? :) I'll be sure to take before and after pictures!
  1. Quilt
  2. Canopy
  3. Paint Materials
  4. Bedskirt Materials
  5. Light Fixture
  6. Electric Fixtures
  7. Curtain

Genetics Follow-up and NIH Travel Confirmed

Bertrand had a follow-up appointment with his genetic and metabolic specialist, Dr. Nicola Longo, this morning. Dr. Longo joined Dr. Sakonju (neurologist) and Dr. Samson-Fang (pediatrician) in remarking upon Bertrand's improvements: decreased movement, increased control, improved social interactions, etc. Improvement was not what he was expecting, even accounting for Bertrand's medications. This improvement coupled with a slew of negative test results goes quite a way to discount several life-threatening disorders but not all.

Dr. Longo wants to retest for Krabbe's, copper, ceruloplasmin, purine, oligosaccharides and a few other items. Because of the low copper, it is possible that Bertrand has a mild case of Menke's or another rare disease I couldn't pronounce much less spell. (I was unable to take notes due to Bertrand's protests.) However, since Bertrand has abnormal liver function and copper is processed in the liver, this could be throwing the copper values off.

It is also possible that Bertrand has abnormal oligosaccharides because of his age. Apparently oligosaccharides are elevated in some babies for no known reason and normalize over time. Dr. Longo wants to see if their levels are decreasing similar to the AFP and liver functions. The AFP is markedly lower and B's liver functions, while they went up this past test, have been going down over time as well.

Bottom line, while Dr. Longo said Bertrand's MRI was unremarkable, Bertrand will need another in a few months and still needs to be followed closely because he still "looks" genetic. Dr. Longo really wants to figure him out and not just because of our family planning concerns. I think this visit did a lot to peak Dr. L's interest because Bertrand's case is getting even more atypical. As if that was even possible. :-P

In other news, even though Bertrand has tested out of vitamin B deficiency multiple times, we'll be trying some folic acid supplementation just for the heck of it. It won't hurt him, so we'll test it out for a month. If it helps him, it'll be a good clue and we'll keep refilling the prescription.

Lastly, our travel arrangements to the NIH were finally confirmed today! We'll be heading out July 13th at around 10 am and this is the first time Bertrand gets his very own seat on an airplane! My lap is happy about the news. :) Bertrand and I are excited about finally meeting Carrie and Hannah while we are at the NIH. Carrie is a fantastic person, as is little Hannah. I just wish we were meeting under a different set of circumstances.

June 23, 2009

Visual Evaluation: Take Two

This afternoon we met with Linda and Edgar, B's new case manager from DDI Vantage. Bertrand completed his visual evaluation. Starting July, he'll be receiving services from Linda with Utah Schools for the Deaf and Blind Parent Infant Program (PIP) twice a month. We can increase or reduce the frequency of service depending on the therapy's effectiveness and Bertrand's progress.

After his strenuous speech therapy session this morning, the visual evaluation was a bit much--even though Bertrand did better than expected. B collapsed into a coma-like nap after Edgar and Linda left. Rather than take the opportunity to catch up on my embarrassingly overdue emails, thank you notes, housework, etc. I went outside with my water bottle to just sit and watch the hummingbirds play in the honeysuckle.

What can I say? Prioritization is not my forte.

Speech Therapy: Evaluation 6/23/09

Today, Bertrand had a speech and language pathology evaluation during his regular speech therapy session with DDI Vantage, the early intervention program for our county. Bertrand will be re-evaluated for regular speech pathology sessions in 6 months but, until then, Becky (the pathologist) gave us some good things to work on.
  1. We need to continue our work with sign language--possibly including some baby sign videos in B's repetoire during his stander time. (Amazon.com here I come.)
  2. We need to really work on mimicking with hands and feet, but ideally we want facial mimicking--lips, tongue, sounds--as this will help with speech.
  3. Lastly, since Bertrand prefers to touch rough over smooth textures, using a kind of sock or custom fabric koozie over his smooth glass bottles may encourage him to handle the bottles himself. Lynn, I may need your help with this!
P.S. - The Valium really helped in today's session! Meghan, B's regular speech therapist, said that she'd never seen B so focused!

June 22, 2009

Five Seconds of Fame

Today, Matthew was interviewed by local TV station KSL 5 regarding the use of social networking technology in the Iranian uprising. While all of Matt's insightful commentary was omitted (the reporter paraphrased it during his report), one very important person was included in the interview. See if you can find him! (Thanks, Jess!)

Play Group at Hogle Zoo

Bertrand enjoyed walking around the zoo with his good friends Kevin and Caroline! The merry-go-round was better enjoyed from the stationary peacock than from the leaping leopard. We plan on going back to the zoo some day soon!

June 18, 2009

Valium & Fibroblasts

We started the day off right with an email from Rena, our genetic counselor. Rena said that the remaining lysosomal storage disease (LSD) fibroblast (skin cell) tests came back negative! This is fantastic news, as these remaining LSDs are untreatable, incurable and fatal. We'll be seeing Rena and Dr. Longo next Wednesday to discuss next steps and, certainly, the liver biopsy.

Also, Bertrand's alpha fetoprotein (AFP) level came back at 67.3! This is the lowest it has ever been! The normal range is 0-15, so it is still significantly elevated, but we'll take 67 over 971 any day. :) Now we need to figure out why his liver functions went up but AFP went down. Our visit with Dr. Book should be, theoretically, enlightening... but, since it's Bertrand, probably not.

Lastly, Bertrand has taken valium two days in a row. The pharmacist warned us that it would knock out a much larger child and to use *extreme* caution. Which goes to prove that pharmacists are not doctors, because the valium has almost no visible effect on Bertrand. About the only difference was that he was his usual ornery self at Shriner's therapy today instead of the compliant, over-stimulated lump of meat he usually turns into there. So, ha! I took perverse pleasure in watching the therapist deal with the real Bertrand for once. ;)

All in all, a good day.

June 17, 2009

Wheeler Farm & Lab Results

Bertrand and I started the day off with lab work and picking up medical records. About an hour and a half later, Dr. Samson-Fang called me with the results of B's liver function tests. The news was not exactly what I wanted to hear; B's liver functions have worsened. His ALT rose to 387 (from 318 last time) and his AST rose to 283 (from 184 last time).We're still waiting to hear the AFP results, but the bottom line is that a liver biopsy is practically inevitable.

At least we were able to follow such somber news up with a great outing to Wheeler Farm! Bertrand had a great time watching the animals and getting pecked at by ducks with his best friend Kevin. The sky was a bit overcast which worked to our advantage since Bertrand was better able to see his surroundings, the animals and other people.

Bertrand has yet to do his stander time today. Since the rain is so beautiful, I may pop him out on the front porch in his stander. Before that I'll be administering a trial dose of Valium. Before occupational therapy tomorrow, I'll be giving him a half dose of Valium as well, so I want to know if it'll work or just knock him out ahead of time.

June 16, 2009

Visual Evaluation

Today, Linda came to evaluate Bertrand's vision. In typical Bertrand fashion, he got so overworked that she'll be coming to finish the evaluation next Tuesday. However, just based on the testing that was completed, Bertrand will begin receiving services for the visually impaired.

Linda armed me with Utah Schools for the Deaf and Blind Parent Infant Program binder, a sensory quilt (made by volunteers) which Bertrand LOVES, and a book entitled In touch with your baby's development. I am about halfway through the book. Here is a passage.

The shock of hearing that your baby is blind or visually impaired is a feeling that lives long in the hearts and minds of parents who experience this news. Maybe you already had the suspicions that something is not quite right. Your baby is not making eye contact. He doesn't follow a dangling toy. His eyes move around in unusual ways. These observations may have led you or another family member to question your baby's vision.

Parents who have gone through such an experience describe a "numbing feeling". Mothers say that they just cried and cried and didn't want to get out of bed. Others hate to see pregnant women. Their dream of a normal baby is shattered. All those baby showers and gifts are meant for a baby with sight. This is not part of the plan. Looking to the future seems impossible. Comments from outsiders seem inconsiderate even though unintentional. How many times are you going to hear, "Oh, he's sleeping," before you scream back, "No, he is blind!" You don't want people to feel sorry for you. You just want to be normal, whatever that means. A mother recently shared that her doctor described their experience as the "new normal". That is, what will now be normal life for their family.

Perhaps your baby has delays in other areas of development as well, and then you find out your baby can't see. The feelings are overwhelming--like you are on a roller coaster ride. Your life is now occupied by new faces; you have so many appointments with doctors and professionals. You just want to talk to someone else who has been where you are now. Friends and family come by with their sighted babies and you cringe at the contrast between their baby and yours. They don't understand what you are feeling.

If this is your first baby, you are even more unprepared for such an event. You have endless questions. What is typical development? How will my baby learn without sight? Why did this happen? Can it be corrected? How much can my baby see? Am I seeing the best doctor there is? You begin looking for answers. Perhaps doctor shopping begins. Maybe another doctor can make this all go away. Better yet, you go to sleep hoping that when you wake up it will just be a bad dream. But, this isn't a dream, and that precious baby lying there is your baby and the love of your life. You want to have hope. Hope for a happy life for your child. Hope that you can make new dreams. Hope that your baby will be the best that he can be. Hope that you will see the world from a new perspective, through the eyes of your child.

June 15, 2009

Busy Week

Bertrand with his "cousin" Maya.

Bertrand watching a movie in his stander.

Bertrand studying that Elmo person.

Bertrand playing with a toy in his stander.

Bertrand checking out his new friend, Shurik.

June 13, 2009

Hands and knees

Bertrand stayed on hands and knees for a sustained period of time today! It looks like months of hard work and therapy may be starting to pay off. While Bertrand was up, he was even scratching the couch with his fingernails.

June 11, 2009

18 Month Birthday Party!

These photos from Bertrand's party were taken by Ethan Killian. Ethan and Jennel are both talented photographers and amazing friends. I was lucky they were among the first people I met in SLC! Bertrand can now say he got his picture taken in infrared! How cool is that? :)

The infamous bear cake.

Bertrand doing what Bertrand does best.

Bertrand trying to walk away while Mommy socializes.

Wonderful Mommy and Baby hug.

Positive Thinking

I'm back and I apologize to everyone who reads this blog regularly for having been remiss in my reporting duties! I got burnt-out a few weeks ago. The "not knowing" finally took its toll on me. So, I took a break from being Bertrand's executive assistant and focused on being his mommy. I enjoyed time with Bertrand, friends and family. I threw myself into planning an 18 month birthday party for Bertrand and did what, in my mind, constituted "normal" mommy things.

Coming out of this funk has left me with a mantra (a modified serenity prayer). "Have the serenity to accept the things you can't change. Have the courage to change the things you can. Have the wisdom to know the difference. And, take a deep breath." :) It works for me.

Bertrand had his neurology check-up yesterday and his 18 month well baby check-up today. Both of his doctors were AMAZED at how well he is doing. His neurologist even went so far to say he could be walking by age three to five, *and* she thinks we'll get to see him grow-up. :') I was emotional on the car ride back. So many parents take it for granted that they'll see their child grow up, but for me--hearing that it is now a possibility--I still tear up. I always will.

Bertrand is beautiful and healthy looking. His weight is down to 50th percentile (yay!) and his height is still 50th percentile--so he is finally proportional. :) He was prescribed a once a day dose of valium to be taken before therapy and a new, stronger acid reflux medication. His liver functions will be drawn again tomorrow to see if his weight loss has improved them.

Bertrand still can't get to sitting on his own. He can't stand on his own. He can't hold his bottle or feed himself or crawl. But, cognitively Bertrand is fine! He loves to read... and boss me around. His personality is very strong. He is serious, stubborn, manipulative, arrogant (I never knew one could consider a baby arrogant until him) and often times charming. His displays shock his doctors--and amuse me. :) His therapists frequently don't know what to make of him.

None of his doctors know what is causing Bertrand's movement disorder and neuropathy. They are still very confused. The next MRI in October will tell us a lot. A liver biopsy in July is looking very likely. What's not looking likely is a diagnosis. Matthew and I are prepared to never get one. As long as Bertrand stays happy, healthy and mentally okay, we can make do with that. :)

Bone Marrow Registry: Free Sign-up

You can sign up to join the bone-marrow registry free until June 22!

Bertrand is not eligible for the experimental bone-marrow stem cell transplant treatment, but there are still children with conditions like his and many cancer patients that are waiting for a compatible donor to join the registry.

Sign up and save a life!

June 10, 2009

Bertrand walks (with some help)

Bertrand started trying out Gait trainers at Shriner's today.

He's not a pro yet, but we had brief moments where we could see lightbulbs going off. I think with time and patience, we can teach Bertrand to associate his feet with moving.

Once or twice, Bertrand pushed with his feet.

Matthew has a coaching session with Bertrand.

Matthew tries a time-tested technique for stubborn Casanovas: reverse psychology.

June 2, 2009

High-level summary

I think it's worth summarizing all that we've learned about Bertrand from time to time, particularly for our newer readers. Before March, we thought we were dealing with global developmental delays and a movement disorder. His bloodwork contained anomalies (elevated AST, ALT and AFP in the liver), but no answers. Elevated AFP does indicate a very small number of known disorders, including one fatal movement disorder known as ataxia telangiectasia (AT), but Bertrand's gene test for AT was negative.

Then, early in March, we found out that Bertrand had elevated levels of oligosaccharides. Oligosaccharides are a byproduct of the metabolism of every cell in the body. When the cells fail to recycle these byproducts, they tend to store up in internal organs. The broader term for such disorders is "lysosomal storage disease." Where they store depends on which oligosaccharides aren't being recycled, but the storage of oligosaccharides causes steady, irreversible damage. There is no cure for lysosomal storage disease, and most patients die in early childhood from the progressive deterioration. This discovery sparked our quest to find out which lysosomal storage disorder Bertrand had, because there are experimental therapies available for a few of them.

Within a month, Bertrand was at Duke University and UNC for a weeklong intensive evaluation. On that trip, we learned that Bertrand's condition was much worse than we'd imagined. That trip also revealed that Bertrand was not going to be eligible for any experimental treatments. Bertrand was showing early signs of global damage to the nervous system and the brain. Chiefly, we found that his nerves and has brain were not myelinating properly. Myelin is the fiber that acts as electrical insulation around the nerves. When it is deficient, signals between nerves get crossed, leading to a mixture of numbness, pain and seizures. Demyelination is a symptom of many lysosomal (and related) disorders.

Specifically, we found that:
  • Bertrand was suffering from global neuropathic pain.
  • The nerves in Bertrand's extremities showed signs of processing delay.
  • The part of Bertrand's brain responsible for auditory processing was not working properly.
  • Bertrand's optic nerve showed early sign of atrophy.
  • Bertrand's brain was no longer developing new tissue properly.
  • Bertrand's brain has highly anomalous "seizure-like" electrical activity almost constantly.
  • Bertrand suffered from severe acid reflux.
Labs were drawn up to test Bertrand for essentially the full battery of known lysosomal storage disorders. To date, nearly all of those labs have come back, and they have all come back negative. A few labs remain out. If all of those come back negative, we will proceed with a liver biopsy and a muscle biopsy to check for the remaining known lysosomal storage disorders.

We recently discovered that the muscles in his throat are not functioning properly, and this at least partially explains why his speech is so delayed: he is physically incapable of making many sounds. (Unfortunately, he is also physically incapable of making many sign-language signs.)

So, Bertrand remains a medical mystery: at the intersection of all of his symptoms is the empty set. Some of his many physicians are beginning to believe that he may have a previously unknown disease. The Duke team has hypothesized that he may have a rare or new form of ataxia telangiectasia or a new lysosomal storage disorder, or perhaps some combination of both. An endocrinologist here in Utah said it's possible he has a variant of Allgrove's syndrome, in light of the fact that he doesn't cry any tears.

Long term, we're still searching for a definitive diagnosis and new experimental treatments for the oligosaccharides, but on a daily basis, our focus is on treating his symptoms, managing his pain with medications and making him as happy as he can be.