NIH Evaluation & Speech Pathology Session

The week of July 13th Bertrand will be evaluated (travel and lodging expenses paid) at the National Institutes for Health (NIH) in Bethesda, Maryland by Dr. Constantine A. Stratakis, M.D. D.Sc. and his team with the Section on Genetics and Endocrinology (SEGEN). Dr. Stratakis specializes in genetics AND endocrinology. He is an expert on Allgrove Syndrome. Even if Bertrand doesn't present with that particular genetic disorder, Dr. S. may be able to point us in the correct genetic direction or to the appropriate expert at the NIH.

Today we also had a fantastic session with Bertrand's speech pathologist at Shriners Hospital, Laura. We covered Bertrand's velopharyngeal inadequacy (VPI). The velopharyngeal mechanism is responsible for directing the transmission of sound energy and air pressure in both the oral cavity and the nasal cavity. When this mechanism is impaired in some way, the valve does not fully close, and a condition known as 'velopharyngeal insufficiency' can develop. VPI can either be congenital or acquired later in life.

As a result of VPI, speech and feeding issues present themselves. Speech-wise all we can do now is not encourage compensatory vocalizations. In the future we'll attempt to strengthen his palate, thereby possibly overcoming VPI without surgery. But, this requires Bertrand's cooperation. Feeding-wise B appears to be fine, but we should speak with his doctors about increasing his acid reflux medication. Once feeding is no longer painful, Bertrand will be more likely to engage in the activity willingly. :)

Speech Therapy, Intro to P.I.P., Day with Friends

Recommendations include stretching, swimming and swaddling with different blankets.

Yesterday I found out that Bertrand is essentially mute, and today he was referred to Utah's Parent Infant Program (P.I.P.) through Utah Schools for the Deaf and the Blind. That's deaf, blind and mute on top of being physically and mentally retarded.

[I feel like I should add that's "retarded" in the clinical and descriptive ("delayed") sense, not the derogatory sense, of the word.]

I am ashamed to say that the thought that briefly crossed my mind was: Helen Keller had it good. This, of course, isn't true. Sure, she wasn't physically and mentally retarded, but Bertrand has the benefit of early intervention programs (such as P.I.P.) and modern medicine (including the possibility of stem cell and enzyme therapies).

The past two days have shed a hard light on facts we already knew but somehow I'd managed to push aside in my head. And, knowing about all of our modern conveniences (and how lucky we should feel) hasn't made the realization any easier to swallow.

That all said, life goes on, and today was a good day! Our highlight was playtime and snacks (delicious Indian ones!) with Aditaya and Rohan, Bertrand's new friends. We're looking forward to play dates at the park, Discovery Gateway and a big family concert at Red Butte Garden! We can't wait!

Ruled Out: Glycogen Storage Disease Type IV

We just got word back from Bertrand's genetic counselor, Rena, that the result for Glycogen Storage Disease Type IV came back negative which is good news. This is another very rare hereditary metabolic disorder that results in liver failure and death usually within the first year of life. Based on my research, I wasn't concerned but it's nice to have it officially ruled out.

Visit with an Otolaryngologist

Today Bertrand saw otolaryngologist, Dr. Fredrik Grimmer, an Ear, Nose and Throat (ENT) specialist. Using an endoscope, Dr. Grimmer learned some important things about B.

1. Bertrand's larynx is still inflamed from acid reflux, which went a long time without treatment.
2. Bertrand's palate doesn't touch the back of his esophagus.

A short palate is a symptom of another genetic disorder called Velocardiofacial syndrome (VCFS). However, Bertrand doesn't have any of the other symptoms like heart problems or facial deformities. Also, it wouldn't explain his movement disorder, liver values, or lack of tears.

Aside from causing his spit-up to go out of his nose, a palate issue is a speech impediment since it prevents hard consonant sounds. We'll be working closely with Bertrand's speech therapist, speech pathologist and feeding therapist to work through this.

Dr. Grimmer will be following Bertrand's case with at least one annual visit. In a few years, if his speech doesn't improve through therapy, B will undergo surgery to narrow his esophagus to enable the palate to reach all the way.

Friday, Bertrand will be undergoing an esophagram to check for achalasia. Dr. G said that he has only ever seen achalasia in adults and a negative result now doesn't rule out that it may develop in Bertrand later.

P.S. - I'll be posting a summary for last week sometime tonight! Hopefully. :)

A busy week

Cristina has been too busy setting up the garden and taking Bertrand to all his appointments this past week to make a blog post. I've picked out some pictures of Bertrand to share:

Bertrand supervised Cristina's gardening.

Bertrand loved his hippotherapy!

He loved it so much, he fell asleep on the horse...again!

Bertrand got to ride on Thomas the Train!

Bertrand was very excited!

Bertrand loved looking out the windows.

Bertrand wore his engineer's hat, because he wants to be an engineer.

Bertrand spotted a cute girl across the way.

Bertrand contemplates his next move.

Feeding Time with Daddy

Ruled Out: Lots of Bad Gene Mutations

The last set of results from Duke University are in. Bertrand has now tested normal for the following genes:

• SETX - mutations cause ataxia with oculomotor apraxia among others
• DGUOK -mutations cause Mitochondrial DNA-depletion syndrome, hepatocerebral form
• APTX - mutations cause ataxia with oculomotor apraxia among others
  
• POLG1 -mutations cause alpers syndrome among others
  
• MPV17 - mutations cause Mitochondrial DNA-depletion syndrome, hepatocerebral form

This is fantastic, if confounding, news! We just have a few more lysosomal storage and mitochondrial disease tests pending before Bertrand is officially über rare.

Physical Therapy: Appointment & Session 5/19/09

Today, Bertrand saw Dr. Judy Gooch, who specializes in rehabilitation at the University of Utah. As we've been coming to expect, she was intrigued/confused by Bertrand's case and astounded by the thoroughness of his evaluation up to this point. She was satisfied by the amount of therapy he is currently receiving through Shriners and DDI Vantage (early intervention). She also supported acquiring a gait trainer (not a stander) for B. Dr. G will also be collaborating with Dr. Sakonju, B's neurologist, on the use of a small dose of valium before therapy sessions.

And, finally, I have to brag: Bertrand is getting on hands and knees! He's done it three times today alone! With help, of course, but that is one step closer to possibly crawling! Yay! This is the kind of break through we've been working on in PT for the past 10 months!

Our Robin Babies

Our four little blue eggs became four sweet, little robin chicks!

The robins are a little over one week old and not nearly as cute as the eggs were. :) I am concerned that the chicks will be hoping out of the nest soon (~ 13 days old) to start learning how to fly. It'll be at least another 2 weeks after this before they officially leave the nest. We need to place something soft on the concrete beneath their nest in case they fall.

Cute Kid Contest

A cute kid contest--silly, but fun. All kids are cute! But, you have to agree, B is an unusually adorable little man. ;) Please leave a comment saying that you are voting for Bertrand here.

Horses, Bees and Chickens?

Today at hippotherapy Bertrand made history! Sort of. He became the very first child in his therapist's experience of 20+ years in hippotherapy to fall asleep on the horse!

He'd had a two hour nap just before his ride, and he'd had his lunch. He was perfectly content. There was no reason for B to pass out astride Addy (his new horse today), nontheless he got so relaxed... it was hysterical. Bertrand apparently decided that the horse was just another swing/carseat type device meant for sleeping on.

And, we can't complain. For almost an hour he was moved through the most fantastic positions and paces! Front-facing, rear-facing, side-facing, sitting, prone, on elbows, on his back, fast, slow, figure 8s and circles... I could never imagine getting a concious adult to do that, much less a special needs baby!

The exercise obviously worked his hips, neck, back, lats, arms, and more. While he was adorable, happy and smiley on the ride home, by the time we got home, B was exhausted the rest of the day. What a work out!

There is so much video footage to sort through, and it is all so funny, that it may take me a while to edit and post. It looks like a baby doll on a horse because it should be impossible to do with a real kid! My son, the trick rider. ;)

In other news, as a prelude to my hens next year--my "boss" approved the RFC (request for chicks)--we'll be getting our bee hive Friday this week! Annette and Aaron from Hansen Bees stopped by to do the site visit this evening,! I am so pathetically excited about having little honey bees. With Bertrand I am now working on the sign for bee! :)

Last day in Georgia (for now)

We attended Bertrand's (second) cousin Brayden's baseball game today. Bertrand watched Brayden pitch a no-hit second inning before we headed off to Great Grandma and Great Grandpa's for a Bugner special dinner. While there, Bertrand played with his (second) cousin Reagan and his new friends Brooke and Ava.

Brooke helpfully strolled Bertrand around.

Bertrand T. Might: Babe magnet.

You can't tell from the picture, but it was an intense philosophical debate.

Cousin Brayden, mid-pitch. (It was a strike.)

Brayden warmed up before the game by showing Bertrand how to use a toy.

A sobering moment of acceptance

Part of what made Cristina so attractive to me years ago was her intellectual drive. She's always held academics in the highest regard because of her father, a distinguished professor in medicine, and I think that kind of respect is why she ultimately fell for me. ;)

Long before Bertrand was born, we imagined how smart our children would be, or at least how smart we could help them to be. I used to joke that I would be a very liberal parent, in that I didn't care in which field Bertrand earned his Ph.D.

So eager to see him one day reach his intellectual potential, we opened two college savings accounts (a 529 and an ESA) for him less than a month after he was born, and we've been making the maximum monthly contributions ever since.

Naturally, we'll never give up on Bertrand, and we'll always push him to his limits (and beyond), but it's become clear that the physical limitations to his intelligence are severe. To say the least, we've come to accept that he's never going to attend college, even if he survives long enough.

Today, we made the difficult decision to close his 529 account, and to redirect that money to his therapy and medical expenses instead. We're leaving his ESA open, since that isn't necessarily tied to him; it could still be used for siblings or others.

All that said, if Bertrand is half the stubborn Casanova his mother is, he will take delight in one day proving our decision to close the 529 account spectacularly wrong. (And, I hope he does!)

Endocrine Exam

Bertrand being comforted by his Aunt Shirley after his blood draw today.

Today we saw two fantastic endocrinologists in Atlanta, thanks to a very good friend of my family. (I don't want to name names in case any one would get in trouble for sneaking Bertrand in. But, you know who you are, and THANK YOU!!!)

We learned a lot about the human endocrine system. Some insights on ACTH in particular included: how ACTH is produced, how quickly it degrades (fast!), how its relationship with cortisol works, and how this all relates to Bertrand.

According to the doctors, explanations for his prior elevated ACTH levels include, at the top of the list, that the ACTH draws aren't accurate for a variety of reasons (Bertrand's stress level, time of day, amount of time until processing, etc.). A distant second is a possible tumor.

They redrew his cortisol and ACTH and took careful note of the time and Bertrand's emotional state. If these results are also elevated, we'll proceed with ACTH stimulation testing at Utah. We will know the results of the draw within the next two weeks, in time for B's June 1st appt.

The experts we met with today reiterated that Bertrand is in the realm of the rare.

I can't help but think that we are also in the realm of the rare--to have such supportive friends and family. Our fantastic friend got Bertrand this appointment with a world expert endocrinologist. Matthew's dynamic Aunt Shirley chauffeured and cheer-led us through the appointment. And, my sweet Titi Lili took us out to a scrumptious dinner (Dante's Down the Hatch!) afterward. Not to forget, Matthew's brother, Booj, serving as DJ and comedic relief. :) We are a very lucky family, indeed.

Uncle's Commissioning

Today, Bertrand's Uncle Booj (real name: John) accepted his commission as a Second Lieutenant in the United States' Army. We enjoyed celebrating the occasion, along with his graduation from Georgia Tech, with our wonderful friends (the Chapman clan) and our extended family. Here we are, pictured below, enjoying the southern comfort at Shirley's (Bertrand's great aunt) house.

Genealogical data for Bertrand

Being among family here in Georgia has led to an unexpected treasure trove of genealogical data for Bertrand. We now have centuries of names and dates to track down for causes of death and symptoms of genetic disorders like Bertrand's. (It also seems that I am roughly 50% German--not the 25% I'd once thought.)

Mights are rare in the United States, and now I know why. A sole Might came to the American colonies, and we are all descended from him.

A nurse here in Georgia named Robert John Might bumped into my local relatives while they were at his hospital. He spoke with my grandfather, who's been doing extensive genealogical work on the family over the past two decades. My grandfather had traced American Mights back to the early 1800s, but the nurse had the whole family tree (containing even my grandfather) going back to the first Might in the United States---John Might, born in Prussia (now Germany) in 1757. He had what appears to be maternal history on John Might going back deep into the early 1600s. (I suspect that "John Might" is actually an anglisation of a German name.)

That original John Might came to the colonies to fight with the British as a mercenary. At some point, however, he switched sides and fought with a North Carolinian regiment during the Revolutionary War, beginning a long and unbroken sequence of Mights in the U.S. military. In peacetime, Mights had been farmers in Ohio until the end of WWII, when my grandfather, my father, his siblings and some of his cousins began a small diaspora. Because so many of Bertrand's ancestors and their relatives were in the U.S. military, we may be able to find medical records for them, and perhaps, clues for the origins of Bertrand's disorder.

Mothers' Day

Bertrand with Great Grandma Hollandsworth.

Bertrand with Great Grandma & Great Grandpa Might.

Bertrand with all his paternal great grandparents.

From left to right, top to bottom: John, Cristina, Bertrand, Matthew, Tom, Grandma Rosina, Grandpa Bud, and Diane.

From left to right, top to bottom: John (Brother to Matthew, Uncle to B), Bertrand, Matthew (Daddy to B), Rosina (Great Grandma), Morgan (Cousin), Bud (Great Grandpa), Brayden (Cousin), Michelle (Cousin & Mom to MB&R), and Reagan (Cousin).

Bertrand volunteers his services as a walker to Great Grandma Rosina.

Bertrand meets his cousins, Morgan, Reagan and Brayden, for the first time!

Bertrand asks Reagan if she's ever heard of the term "kissing cousins". It's the south, afterall.

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.

A Better Day Tomorrow

"Sometimes we just have to get through the crappy day to hope for a better day tomorrow..."
--Carrie Ostrea, Mom to Hannah, 9 months old with Neuronopathic Gaucher's Disease

I started the day off with high blood pressure due to trying to schedule Bertrand's endocrinology appointment. Bertrand's Adrenocorticotropic hormone (ACTH) is VERY high. His doctors want him seen by an endocrinologist who'll be able to see whether this is ACTH resistance or excess, and do an ACTH stimulation test. Sound simple? Ha!

The first endocrinology office I called, the one Dr. Longo recommended, specializes in diabetes. They wouldn't take Bertrand until JULY 7th. An appointment over two months from now for a child with dangerously high ACTH?! And better still, that was a consult ONLY--the actual ACTH test would be scheduled some time after that. A possible 4 months? I don't think so.

So, I called another local endocrinologist. This one specializes in disorders of pituitary, thyroid, growth & bone (no diabetes, PCOS, female hormone management, or Fibromyalgia). Sound right up our alley? I haven't heard back! But after this phone call, I was running late for B's appointment but I called my father to rant.

My father calmed me down. He told me he'd do what he could. He shot off some emails to see if some of his old colleagues at the Medical College of Georgia or some of our family friends in Augusta could see Bertrand while we are in Georgia next week. My mother also called her friends in Augusta to see what she could do. We'll see.

Bertrand and I managed to make his occupational and physical therapy evaluation at Shriners on time. We enjoyed meeting Chris (OT) and Cindy (PT) a great deal. Chris showed a great deal of interest in Bertrand's feeding abilities, while Cindy focused on what we could do equiptment wise. I was disappointed to hear Cindy emphasizing a stander for B. I feel like a gait trainer would give him mobility which would make him happier, but oh well. :( Kirsten sides with me.

B did not behave true to character during the evaluation--in part because it interfered with his nap and he is finally getting his full neurontin dose. He was more interested in... cuddling. "Snuggly" and "sweet" have never been used to describe Bertrand before. I mean, that's fantastic, but any one who has ever met him knows that's not Bertrand. He likes to move. He wants to be everywhere, but today he was a lump. I'd like him to find a middle ground.

When we got back home, I got an email from Dr. Samson-Fang (a doctor who honestly cares for Bertrand) recommending that we see Dr. Rob Lindsay. Dr. Lindsay is in private practice so his schedule could be more accomdating. And, what do you know? It was. I set an appointment for B with Dr. Lindsay on June 1st. If nothing else pans out, June 1st it is.

Some days are better than others. Let's just say that there're a heck of a lot days better than today.

Ruled Out: Niemann Pick Type C and More

Good news! Bertrand's karyotype came back normal, 46,XY. His Niemann-Pick, type C1 and C2 testing also came back negative. We're ruling out quite a bit, and we're still missing some more Duke DNA testing as well as the skin biopsy analysis which was sent to the University of Alabama.

With so many conditions ruled out, I am increasingly hopeful that perhaps we'll discover that Bertrand's case is treatable somehow, and that we'll be able to use his banked cord blood to repair any brain damage after all. (We already have the "in" with Dr. Kurtzberg.) I can dream, right?

UPDATE: Dr. Longo just emailed me. "Fibroblasts will [be] sent for multiple lysosomal enzymes today. I will send additional fibroblasts for GSD Type IV. Would like to have an endocrinologist see him to give an opinion on whether this is ACTH resistance or excess and do an ACTH stimulation test. Would wait on Muscle Biopsy for now."

Swine Flu

Bertrand's hippotherapy in Park City was canceled today, due to the swine flu scare. As a result, his physical therapy, which was going to be held jointly with it, was canceled. Kirsten, B's P.T., said that there have been 1-3 confirmed cases and now up to 20 non-confirmed in the Park City school district. Classes there have been canceled since last Thursday.

In the swine flu domino effect, now Bertrand's trip to the Utah Center for Assistive Technology (UCAT) has been affected. We're waiting to hear back from B's S.T., Meghan, as to whether or not we'll just have therapy at our house or move it altogether. Crazy.

Weekend Garden Fun

Every day Bertrand says "hello" and "bye bye" to Mama Robin and her four baby eggs. Her nest is situated in our carport, so watching her build, lay and now brood has been fun!

And, this week while Daddy was away, Mama and Bertrand played... in the yard. Or, rather, Bertrand played while Mama did major yard work. (I will never dig out a tree stump ever again.) Bertrand and I braved the weather to go to the Red Butte Garden Sale. We got some cool heirloom tomatoes (tiger striped), squash (mystery) and bell peppers (purple!),

Above you can see Bertrand watching and talking to our neighbor's big dogs who come to visit with Penny, our small mutt. You can also see Penny kissing (a.k.a. annoying) Bertrand.

Speech Therapy: Evaluation 4/29/09

In the flurry of Bertrand this week, I forgot to mention his speech evaluation at Shriners Hospital. The evaluation was conducted by speech/language pathologist, Laura Barnett. B's doctors and all of his therapists have spoken very highly about Laura. And, after meeting her, I can see why. Not only is she delightful, she is very insightful! :)

Within minutes of working with B, she had him fully engaged. B's biggest hurdles to communication are his physical challenges. Meghan and I had him working buttons with his hands, but Laura got him using his feet (which have less involuntary movement) with greater success! Laura even gave us a switch (a $130+ device) to take home.

Between the switch, the visual flashcards and the upcoming shopping expedition at the Utah Center for Assistive Technology, we'll have plenty of fun toys to work with speech-wise. And that's enough for now. According to all the experts, B really needs to work on motor control and balance to enable his communitcation and reduce his frustration.

Laura thinks that Bertrand needs, and will start receiving, more occupational and physical therapy at Shriners. To start with, we'll only see Laura 1-2 times a month. That means, between Laura and Meghan, Bertrand will get speech therapy once a week. PT and OT are where he will get blitzed. In some scenarios, he could have therapy every weekday.


P.S. - Dr. Longo said, "An ACTH stimulation test might be a good idea. I am not sure whether he has adrenal insufficiency, resistance to ACTH or hypercortisolism. Most cases of Allgrove are in older individuals: this would be very early. I will be back next week."

P.P.S. - From my research, in medical literature many cases of Allgrove have older sibling(s) who died in childhood, undiagnosed with similar symptoms. Given how long B's doctors were sold on ataxia telangiectasia (which doesn't manifest until around age 6) we shouldn't rule this out on age. ...'Sides, with ACTH that high, B needs treatment.