Ruled Out: Lesch-Nyhan Disorder

We got the Metabolic Clinic Medical Report in the mail today. Included with the report were some lab results I hadn't seen yet--in particular the uric acid test results. Bertrand's uric acid came back normal, which discounts another dreadful disease called Lesch-Nyhan Syndrome. So, it's back to the drawing board--or rather--back to medical imaging.

The MRI next week (4/8/09) will really be able to tell us what direction to move in. MRI gives information about the structure of the body (the distribution of water and fat). With the MRI he'll also be getting a MR spectroscopy and a MR angiography. The Magnetic Resonance Spectroscopy is used to obtain biochemical information. The Magnetic Resonance Angiography is used to generate images of the arteries.

A procedure that, while not for a diagnosis, may help guide Bertrand's treatment is a Lumbar Puncture (LP)--also known as a spinal tap. As mentioned in a prior post, Bertrand's prolactin levels were elevated. The movement disorder portion of his presentation could be caused by too much neurotransmitter--which is treatable. I am certain that reducing his involuntary movements would decrease Bertrand's frustration and improve his quality of life.

Occupational Therapy: Session 3/31/09

Today Bertrand met with Annie Miller, Occupational Therapist, and Maggie Chaney, Nutrition Consultant. Meeting with Annie, on top of being fun, always generates lots of great concepts to try with Bertrand.

1. Bertrand was issued a cut-out-cup for cup drinking. (Didn't go so well tonight, but we'll try again tomorrow with yogurt smoothie.)
2. We will continue Bertrand's body brushing program with added muscle compressions.
3. Bertrand will be encouraged to touch himself with a particular emphasis on his mouth/face area.
4. We'll provide mouthing opportunities with soaked cloths and wrist rattles.
5. Because the thin consistency of juice may be turning him off, we'll try thicker fruit nectar.
6. If we can accomplish it, V8 Splash would also be a good source of for vegetables.
7. Generic cheerios soften more quickly so, if soaked, they may succeed where brand name Cheerios have failed. :)
8. Because of Bertrand's largely milk/formula diet, he does not get as much sodium or potassium as he should. We should speak to Dr. Samson-Fang about adding "Lite Salt" to his baby food.

Of all the recommendations, Matthew's favorite is hydrotherapy. Since I am a firm shower person, I can't fathom putting Bertrand through his paces in a bath tub much less a hot tub. But, if Matt is willing to both shell-out for the hot tub (tax deductible prescribed medical expense) and work with Bertrand in it, I will support them. And, I'll videotape it! ;)

Ruled Out: Tay-Sachs & Sandhoff Disease

This morning I've been hunting down Bertrand's lab results. First, the U of U lab, then Primary Children's, then Baylor, then U of U, then Primary Children's... until success! Sometime today they should be entering Bertrand's results into the system.

I'll be able to get and scan copies from the medical records department later this week. Doctor Longo needs to interpret some of the results for us, but one result I could interpret fine myself: normal for Tay-Sachs/Sandhoff. Just 30-some more to go.

Speech Therapy: Session 3/30/09

Bertrand is working on farm animal signs and decreasing upper-body sensitivity.

Genome Scanning: 23andMe

Long before Bertrand was born, Matthew and I would engage in lively discussions about human genetics--our own in particular. Bertrand has rekindled a lot of those discussions with an added dimension: given the genetic nature of his disease, how do we prevent another child (sibling or cousin) from suffering like he has? Well, it's amazing what a few years can accomplish. Genome typing cost in the neighborhood of $3 billion in 1998. It's fallen by about a factor of 10 each year since then. Now, you can get the most relevant chunks of your genome scanned by 23andMe for just $399.

This opens the door to scanning yourself for predisposition to all kinds of diseases: cancers, diabetes, neurological disorders, heart problems, rare genetic conditions, etc. In some cases, you could get decades to take preventative action to either eliminate or delay the onset of symptoms. Or, if you're the co-founder of Google, and you find you're likely to get Parkinson's, you can throw a few billion dollars at curing it. ;)

Pilgrimage to Duke

In one week we'll be traveling to North Carolina's Duke University to have world experts on cord blood stem cell treatment evaluate Bertrand. The working schedule for our trip is below. It will be continuously updated.

DATE	DAY	TIME	EVENT	PEOPLE	LOCATION
04/05/09	Sunday	8:30AM-5:05PM	Travel	Bertrand, Cristina	SLC to RDU
04/06/09	Monday	8:15AM-10:45AM	Nerve Conduction Study	N/A	Duke South Clinic 1L
		10:45AM-12:15PM	Genetic Evaluation	V. Shashi	Children's Health Center
		12:15PM-1:30PM	Blood Draws/Lab Work	N/A	Children's Health Center
		1:30PM-3:00PM	History and Physical Exam	L. Stafford	Children's Health Center
04/07/09	Tuesday	8:00AM-12:00PM	Neurodevelopmental Evaluation	M. Escolar	Center for the Study of Development & Learning
		1:00PM-2:30PM	Neurology Consultation	E. C. Smith	Lenox Baker Children's Hospital
		2:30PM-4:00PM	Hematology Clinic	J. Kurtzberg	Children's Health Center
		1:55PM-9:40PM	Travel	Matthew	SLC to RDU
04/08/09	Wednesday	8:30AM-9:30AM	Hearing Test	N/A	Children's Health Center
		9:30AM-12:30PM	Brain MRI	N/A	Children's Health Center
		12:30PM-2:00PM	Echocardiogram	N/A	Children's Health Center
		2:00PM-3:30PM	X-Ray Skeletal Survey	N/A	Children's Health Center
04/09/09	Thursday	8:00AM-2:00PM	BAER, VER, EEG	N/A	Children's Health Center
04/10/09	Friday	8:30AM-10:30AM	Eye Exam	T. Yanovitch	Duke University Eye Center
		2:00PM-4:00PM	Test Results Review	J. Kurtzberg	1400 Morreene Rd.
04/11/09	Saturday	10:00AM-2:16PM	Travel	Bertrand, Matthew, Cristina	RDU to SLC

Organization

With all the phone calls, appointments and paperwork I do, being the mom of a special needs child is sometimes more like being their executive assistant.

Yesterday, we received Bertrand's registration packet for Shriners in the mail. I was able to schedule Bertrand's evaluation visit for April 27th at 7:30AM. A month away, it was their first available appointment. (Now I have to move his speech therapy.) Not bad for a supposed 2 month waiting list. I've already gathered and filled out all the paperwork for Shriners.

It's become incredibly important to stay on top of things and stay organized with Bertrand. As registration packets come in, I fill out what I can and pool the necessary documents. Most of Bertrand's documents (insurance card, birth certificate, medical records, etc.) have been scanned in and saved to PDF. I can then print out for or email copies to whoever needs them.

I'll be scanning Bertrand's therapy documents soon. I just go to one of those big automatic scanners and run everything on auto feed through. The resulting document is emailed to me and I break it into smaller documents to save in Bertrand's file. My typical naming scheme is year-month-day-DocumentType.pdf (e.g. 2009-03-28-IntakeRecord(Neurological).pdf).

We also ask for and get CD copies of Bertrand's medical imaging the day of each procedure. All this has been incredibly helpful in coordinating interinstitutional efforts. When a doctor wants to know whats been done, we can just email it, point to a secure webpage or burn copies to CDs and overnight. Whatever works for the individual doctor.

I fill out most of Bertrand's paperwork on the computer, so the doctors have an extremely legible copy, and I have a copy saved on my laptop. (I am trying to figure out ways to put it all on my iPhone too--just in case.) I carry hard copies of everything to appointments in Bertrand's Baby Brief Case. In it I have the following files: notepad, question list, receipts, medical imaging CDs, research publications, medical records, identification.

(Funny enough, I'd bought the baby brief case before Bertrand was born and it was overkill. Way too much for a normal baby. Once his medical issues became evident, the brief case was resurrected. It'd be easy to make your own brief case with a standard accordion file folder. My case fits everything well and makes me feel like I have at least something under control. )

Also before Bertrand was born, I had toyed with Google Health going through one of their approved providers. We may still use the upload it yourself version of Google Health, but the providers were EXPENSIVE! Bertrand would've been close to $500 to set up. Those providers are geared not to individuals but to companies that want to provide the service to employees.

With our impending trip to Duke University, and despite TSA regulation changes, I've been trying to simplify travel with Bertrand. We'll see how this works, but I am preordering everything (diapers, wipes, formula, toiletries, food) through Diapers.com, an Amazon affiliate. The shipping on orders over $49 is free, sales tax isn't charged, and Diapers.com has a low price guarantee. Our package *should* be waiting for us in North Carolina when we get there...

Museum of Natural History

Bertrand (left) with his new best friend Kevin (right) and the Frog Prince (center).

Today, Bertrand and I had a great day out with Lynn and her son, Kevin! We met up with Gary, Lynn's husband, at the University of Utah Student Union for lunch. Thanks to help with Bertrand from Gary and Lynn I had my first real lunch since my family left town! (I really have been trying to eat well, but as Bertrand's underpaid executive assistant I am lucky to get just coffee in.)

After lunch, we went to the Utah Museum of Natural History as guests of Lynn and Kevin. The museum was hosting a special frogs exhibit with live frogs, demonstrations, interactive displays, books... Bertrand was most interested in the track lighting. Go figure. :) Kevin, on the other hand, was fascinated with turning the lights on in the terrarium displays. You know, those guys and their gadgets!

On the Bone-Marrow Registry

Kristi, a doctoral student that underwent a bone marrow transplant last year, tipped me off that there was a bone marrow donor drive at the student union this afternoon, so Cristina and I strolled Bertrand over to sign up.

The process is remarkably easy, fast and painless. We just filled out some contact info forms, swabbed our cheeks four times and that was it. We'll be on the registry until we're 61 now. (We certainly don't ever plan on opting out.)

They were really excited to get Cristina on the registry, because Hispanics are highly underrepresented, giving them a lower probability for finding a match.

I wish I'd found out sooner so I could have spread the word, since the cost of the testing (normally $50) was covered by a grant. We're in touch with the Utah bone marrow folks now, so we'll know when the next one is ahead of time. We'll be sure to broadcast the next donor-registration drive in advance, so anyone that who would like to join can sign up.

Naturally, Bertrand charmed everyone.

Physical Therapy: Session 3/26/09

In spite of being tired, Bertrand's physical therapy went well today. He continued to show progress answering to his name, reacting to voices and facial expressions. Bertrand's defensive reactions are improving, including catching himself after startles and protecting his head during falls. We're adding a firmer massage called "hand hugs" to his massage circuit in hopes of improving sensory input.

Eating at Chez Bertrand

Bertrand has become an increasingly picky eater the past few months. He is a far cry from the little 3 month old who would eat anything you put in front of him. In an effort to whet his appetite, I've been trying a variety of foods on Bertrand. While yogurt is still king, we had moderate success with the two items below.

This frittata was remarkably successful with Bertrand. I've been on a frittata kick thanks to the amazing frittata pan I got for x-mas. I made it from left over veggies in my fridge: squash, new potatoes, cucumber, green onions, parsley, swiss cheese, and, of course, egg. I thought that this would be my first flop, due to the hodgepodge nature of the ingredients--it wasn't. Bertrand loved in particular the egg, cucumber chunks and squash. Go figure.

Bertrand hated this "chili" the first day, but loved it the next. While I was making adult chili, I set aside a handful of kidney beans, and once our chili was done, I added a tablespoon full of our chili to the beans and threw it all in the food processor. It's worth mentioning that the adult chili base wasn't your traditional chili. There was lean ground beef (seasoned with adobo), roma tomatoes, green bell pepper, red & yellow onion, red pepper flakes, garlic, fresh cilantro, ground black pepper and sea salt. The result was a nuanced and flavorful, but mild, chili. Matt agreed with Bertrand that it was even better the next day. :)

Physical Therapy: Accepted to Shriners

Woo hoo! My phone call yesterday must've helped. :) Angela with Shriners Hospital called today to ask me more questions about Bertrand's case and she entered an acceptance for him!

They have quite the leadtime to get into their program (the downside to being free). Bertrand will be evaluated by an orthopedic surgeon in 2 months and start physical therapy shortly thereafter.

Normally a 2 month wait (even for first available) would bother me, but now I view it as time to determine a diagnosis.

Play Group, Shriners (PT) & Blog

Bertrand's play group today was canceled at the last minute, so Lynn and Kevin met Bertrand and me at a cafe. We had such a good time that we hope to get together again very soon!

I called the applications department at Shriners today to check on the status of Bertrand's application. It was under committee review, and I am glad I called because I think it was on the way to get rejected.

You see, Shriners deals primarily with orthopedic issues. The application asked for x-rays--which Bertrand doesn't have. However, as I told the lady at Shriners, he has plenty of MRIs, CT Scans and ultrasounds. His issue is a metabolic one with very marked neurophysical manifestations.

Hopefully, the additional information I provided will prevent us from having to go through the appeal process with them.

As some of you have noticed, I redesigned the blog a bit yesterday--hence the terse post. :) I hope to be adding more pictures, slide shows, and movies soon too! Please let me know if things don't show up well--I tried to test for different screen resolutions, but I am not perfect.

Speech Therapy, More Lab Results

1. Speech therapy went well. Focusing on cognitive development.
2. Biotinidase results: 4.1 (normal range 3.5-13.8).
3. Baylor blood work (specific lysosomal) due back in another week.
4. Plans for Duke University/UNC forging ahead.
5. Remaining March and early April appointments rescheduled.

Study for Neurodevelopmental Function in Rare Disorders

Bertrand will be seeing Dr. Maria Escolar at UNC on April 7th for a 4-6 hour evaluation.

Dr. Escolar is the director of the Program for the Study of Neurodevelopmental Function in Rare Disorders (NFRD). The NFRD was established in 2000 because of the need to help children and their families understand the overall impact of pediatric neurological diseases. While the program initially focused on Lysosomal Storage disorders, it has now expanded to include many other rare disorders. The program has longitudinally evaluated over 400 children. Because these disorders are rare (incidence of 1 in 40,000 – 200,000), the many patients it follows represents a substantial proportion of the population of children with these disorders.

The NFRD is a program within the Clinical Center for Development and Learning (CDL), and the CDL is a program within the Carolina Institute for Developmental Disabilities. The Carolina Institute was recently established by the University of North Carolina at Chapel Hill School of Medicine to advance research, training and treatment efforts aimed at aiding children and adults with developmental disabilities.

Download the NFRD Pamphlet

Interesting: Prolactin Result

According to Dr. Longo:

The prolactin is increased to 18.3 (normal for a child his age is up to 10.1): this is likely to reflect partial deficiency of dopamine, likely secondary to his primary problem. I would proceed with the spinal tap to measure neurotransmitter metabolites. If low, they can guide therapy to improve Bertrand's symptoms.

Lysosomal enzymes were sent to Baylor Houston (not to Dallas where Dr. Schiffman is). They will take another two weeks. If they are normal, we might consider a skin biopsy: some enzymes are not expressed in blood cells and require skin fibroblast.

[...] Your child will need sedation for the tap. Would do it when we do the skin biopsy and I would wait first on the results of the pending tests. Would plan to do it first week of April.

Interesting: Copper Result

While Bertrand's biotinidase and lysosomal tests are still out, his copper (Cu) test result came in. Interestingly enough, his copper is low at 61. Normal range for copper is 90-190.

Could this mean some form of Niemann-Pick disease? We've googled around and found that NP is associated with copper, but nowhere says whether that means it is high or low.

UPDATE: According to Dr. Longo, "With ceruloplasmin being normal, I am not sure it [copper supplementation] would help. A low ceruloplasmin would have told me what he has. Would just repeat it for now. If still low (meaning the result is real and not due to a fluke), then would consider giving him copper histidinate."

Carolina Bound

We're working on the arrangements for our evaluation visit at Duke University. We'll be there the week of April 6th. Bertrand will be getting a few more tests, including another MRI, here at the University of Utah next week in preparation.

Matthew's family in North Carolina (Julie, Kelly, Rob, Ben and Luke) has been kind enough to invite us to stay with them. :) We're really looking forward to spending time with them!

I'll be reporting more intel tomorrow. ;)

Picnic at the Park

In keeping with our mission of making sure Bertrand has a full life, we had a wonderful picnic at Liberty Park today! We brought kites to fly, with moderate success:



What happened here was that Cristina accidentally threw the kite into the tree, which made the cord snag. (Stay tuned for the surprise ending.)

Laboratory Results 03/17/2009

The first test results from Dr. Longo's lab orders are in. So far, it looks like all the low hanging fruit (what would be easy fixes) are normal. Given his average prolactin results, Bertrand may no longer need a spinal tap.

• Biotinidase enzyme: TBD
  
• Uric acid: 2.0 (Normal range 1.8-5.0)
  
• Prolactin: 18.3 (Normal range 2-25)
  
• Ceruloplasmin: 18 (Normal range 14-44)
  
• Copper: TBD

I'll be checking back with the University of Utah lab tomorrow on the biotinidase and copper. I will also be calling Baylor tomorrow regarding turn around times for their lysosomal testing. (I tried calling tonight, but they were not open.)

Some Days Are Better Than Others

I am proud that Matthew posted yesterday, because I could barely breathe much less think clearly enough to write. Now, on a beautiful spring day and with a bit of sleep, I can say, "Hey! At least it is not mitochondrial!" The general impression we are receiving from our specialists at the University of Utah is that Bertrand is too old for the cord blood transplant. As parents, we still HAVE to see if that's an viable option--it would be his best chance for long term survival.

Perhaps it is naive, but we believe that as long as we can stop the damage (partcularly brain damage) in its tracks and get his body to start producing its own enzymes, maybe stem cell therapies can repair some of his brain damage in the near future. Bertrand needs to live long enough for that to even be possible.

There is a company called Aldagen now making stem cell treatments to help repopulate the cells for children with inherited metabolic diseases. There is currently a clinical trial accepting patients up to age 16, but we need a diagnosis first. (A clinical trial would be nice since they may cover some of our travel and related expenses.) This Aldagen therapy could potentially help kids with the following:

• Hurler Syndrome (MPS I)
• Hurler-Scheie Syndrome
• Hunter Syndrome (MPS II)
• Sanfilippo Syndrome (MPS III)
• Maroteau-Lamy Syndrome (MPS VI)
• Krabbe Disease (Globoid Leukodystrophy)
• Metachromatic Leukodystrophy (MLD)
• Adrenoleukodystrophy ALD and AMN)
• Sandhoff Disease
• Tay Sachs Disease
• Pelizaeus Merzbacher (PMD)
• Neiman-Pick Disease
• Alpha-mannosidosis

To help with diagnosis Bertrand got more labs done today. At the University of Utah laboratory he is getting the following tests:

• Biotinidase enzyme (retest)
  
• Uric acid
• Prolactin
• Ceruloplasmin
• Copper

At the Baylor College of Medicine laboratory he is getting the following tests:

• Fucosidosis
• Krabbe Disease
• Mannosidase Deficiency
• Tay-Sachs Disease & Sandhoff Disease

His doctors seemed to think it would be better to have the tests sent to Baylor over Mayo this time due to better controls and increased specificity. (Mayo botched the thin layer chromatography on the last oligosaccharide test.)

So at the UofU lab today, they drew a LOT of blood (stuck him in both arms since he clots so quickly), and then called us at home to come back. They hadn't drawn enough blood! So we went back and they had to draw from his hand. It was a *rough* morning.

Even though time in a lab is not the most cinematic, it has been such a large part of Bertrand's life, we had to capture it somehow. We were able to capture part of the blood draw on our new, fabulous VIDEO CAMERA! An early Mother's Day gift from my father, and I couldn't be happier! We've gone a little camera crazy today--taping everything. :)

Our day has also been filled with making preparations. One of our dog's, Mr. Wang, will be leaving this Friday to stay with my mother in Kentucky. This is in preparation for our travel to North Carolina and Bertrand's potential transplant recovery. (We're being hopeful.) Our other dog, Penny, will likely stay with a neighbor or my in-laws.

We're waiting to hear back from: (a) Samson-Fang on a quicker MRI, (b) our case manager at Blue Cross Blue Shield on out-of-state approval, and (c) Kurtzberg on getting a work-up at Duke.

A Camcorder!

Bertrand's wonderful Abuelito Manuel (Grandpa) sent us a very nice camcorder so that we could start recording Bertrand!

Bertrand made a quick clip to say thank you as soon as we got it:

Puzzles and Nightmares

We saw Dr. Longo today. Dr. Longo was intelligent, engaging and professional. He was puzzled by Bertrand's presentation. He couldn't offer any immediate answers, and he was able to rule some lysosomal storage disorders less likely based on his appearance. He ordered a battery of tests and re-tests.

When pressed, his prognosis was quite grim. Most devastating was that he didn't seem to believe that cord blood or bone marrow would be a good option, given the outward indications that brain damage had already occurred. On the other hand, he did mention the possibility of enzyme therapy augmented by "chaperone therapy," in which a chaperon molecule would be used to improve the half-life of externally injected enzymes and to possibly allow the enzyme to cross into the brain.

Immediately after the meeting, Dr. Kurtzberg at Duke told us that his MRI from 8 months was not normal, as had been previously assumed and that her team could

"see changes in the periventricular and subcortical areas that could be
consistant with a mucopolysaccharide disorder or a leukodystrophy"

Needless to say, we'd like to fly Bertrand to Duke ASAP. Too much time has already been lost. We might get the same answer there--that we're too late--but we have to try.

Contest Entry: JVC HD Camcorder Giveaway

Bertrand wants a camcorder so he can be a star!

Kirstin at An Ordinary Life Blog posted a JVC HD Camcorder Review and Giveaway! The JVC Everio GZ-HD320 120GB High-Def Camcorder is a pretty sweet camcorder. We have been desperately wanting a camcorder to record chunks of Bertrand's life and baby bucket list, so hopefully we can win one!

First of all, (as anyone who reads this blog knows) why we think we should win: Even though he just turned 15 months old, Bertrand's metabolic disorder makes it so he'll probably only live to age 3. We want to capture the few remaining, precious moments we can.

Next, I am supposed to share parts of B's story. After an uneventful pregnancy, Bertrand spent the first few days of his life in the NICU. Since then he has experienced frustration and global developmental delays. The recent discovery of oligosaccharide bands in his urine has indicated one of two possibilities: a lysosomal storage disease or a mitochodrial mutation. Both are fatal.

I guess this isn't the cutest baby story, but he IS the cutest baby! ;) Wish us luck with the contest and with the visit to Dr. Longo's office later today!

Beautiful Spring Day

The weather today was beautiful! Bertrand, Mama and Daddy took the dogs on a long walk and came home to work on the yard. Bertrand enjoyed "helping" Mama with the flowers. (He loved the little purple ones.) He also swept the porch with her. And, while Mama cut the roses and weeded the irises, Bertrand played in his exersaucer on the porch and "directed" Daddy on taking down the holiday lights!

For dinner we all ate Pollo Guisado (a chicken stew) and now the sleepy, little gardener needs a bath. :) Today was a fun day! And, in a few minutes we're going to pick up Aunt Belinda at the airport! The good times keep on rolling. ;) Gotta love spring break!

Pediatric Check-Up: Bertrand Style

Oops! I forgot to post this yesterday! We saw Dr. Samson-Fang. The appointment was for his 12 month shots (measles & chickenpox), but they got postponed until Bertrand gets Dr. Longo's go-ahead on Monday. I made it clear to Dr. Samson-Fang that preserving Bertrand's mind is our #1 priority. So, time is of the essence in pursuing experimental treatment options.

We learned that on Monday, Dr. Longo will likely meet us with both a nutritionist and geneticist. Many metabolic conditions can be mitigated with some diet regulation. And, the geneticist can assist not only Bertrand, but also Matthew & me. I imagine that this initial consult will be longer than your ANSI standard doctor's visit.

We're waiting to hear back from Dr. Kurtzberg on the MRI. Depending on what she sees and what we hear on Monday, we'll be making our decision on whether to include her in Bertrand's treatment in Utah or just take him straight to Duke University.

Here is a clinical trial that Bertrand qualifies for called Studies of Children With Metabolic and Other Genetic Disorders. The focus of this trial is on training doctors, not treating the patients. We've decided it's not the best fit for our familial goals, since we want to try everything possible--not just standard medical practice--in treating Bertrand. We'll keep this blog going and encourage the journalization of Bertrand's case in order help other families and doctors.

Death and Taxes

Today I got more bad news, but I had to do our income taxes when I should've been spending time with Bertrand! :'( I have never resented the IRS more in my life. This has probably been the lowest point in my life--to date.

Even though I spoke with Dr. Samson-Fang today, you'll excuse me if I don't go into detail. The short of it is that she'll forward his records to Dr. Kurtzberg and that Dr. Longo is taking the lead with isolating a diagnosis.

I also received an email from Dr. Sakonju which has me a quite a bit down despite its thoroughness. Basically, Bertrand could have an even *less* treatable disease than LSD called Alper's. Here's what she wrote:

I did get this message but it is not a simple question and will need a little more time to look at his labs.
The ATM gene was indeed negative. We have not gotten any spinal fluid to do the CSF lactate (I don't think he's ever had a spinal tap). The leukocyte lysosomal test (oligosaccharide testing) needs to be followed up with specific testing. I don't think he has ALD, Krabbe, or MLD -- these usually present differently and brain MRI usually shows a demyelinating pattern: we would need to repeat imaging, but I don't think this is indicated quite yet, but we could go forward with this. As for GM1, Tay Sachs and mitochondrial testing, the former two are still possibilities--metabolic clinic can help with further testing for these. A serum lactate can be elevated and if so, is helpful, but oftentimes is normal even in the mitochondrial diseases. A serum lactate can be checked easily with his next labs, but we were already thinking he may have a specific mitochondrial syndrome known as Alper's disease and there is specific gene testing for this. Either way, the diseases to test for all have no cures and are generally speaking neurodegenerative disorders that tend to progress. Some families will still want to pursue a diagnosis which will help with knowing more about what lies in the future and so forth. I will respect your wishes and will try to do the best we can. I would recommend seeing metabolic clinic first, and I will email Dr. Longo with our concerns.

Biopsy Scheduled & More

Bertrand's liver biopsy is scheduled for April 1st. Due to his movement issues, he'll get his blood drawn the day before. The day of at 11am, he'll have a liver ultrasound which will help determine where the biopsy should be taken. Then at 2pm, he'll have the needle biopsy and stay overnight for observation (to make sure there is no internal bleeding).

Dr. Book's office (gastroenterology) still will not schedule a follow-up appointment. I am frustrated, puzzled and a little bit angry at how they run things there.

We have an appointment this Thursday with Dr. Samson-Fang, Bertrand's pediatrician. She is eager to isolate which particular LSD Bertrand has. She'll be in touch with us again tomorrow.

With the last email I sent, I finished clearing my schedule of non-Bertrand obligations. Even other people's schedules are changing for Bertrand. My aunt Mimi was going to vacation in Vail, CO for a few days, but now she is now coming to us! This way she can see her favorite little man and Bertrand can finish his testing here in Salt Lake City.

Physical Therapy: Six Month Review RESULTS

The results from Bertrand's therapy evaluation are in! While we didn't meet many of our goals, we did make progress on several. And, we've received new age equivalencies:

• Gross Motor: 7 months
• Fine Motor: 4 months (woo hoo!)
• Cognitive: 6 months
• Language: 5 months
• Self-Help: 0 months (clearly has not read "The Secret" :-P)
• Social/Emotional: 6 months
  

Game plan

Several of you have been asking, "How do I get tested for bone marrow compatibility?" The short answer is: If you're willing to test and donate upon a match, send me or Cristina your email address, postal address, phone number, blood type (if known) and HLA type (if known). We'll contact you if we need you to test. (We're going to construct a priority-ordering on the probability of a match to avoid over-testing.)

Our rapidly evolving strategy has ranked the experimental treatments according to the likelihood of success:

1. Cord-blood transplant. This works like a bone-marrow transplant, but with the stem cells from umbilical cord blood. One of Bertrand's cousin's cord blood was banked, and has been offered. We don't yet know if he's a match, but with cord blood, it doesn't have to be exact; the risk of rejection is lower; and the chances of Bertrand having a shot at a longer life are higher. Bertrand's own cord blood was saved, but it can't be used because it too contains the genetic defect. If you know anyone that's expecting, please ask them to consider cord-blood banking. It may save Bertrand's life, but it could also save their own life or their child's life or some other person's life. (You can also donate your cord blood to a public cord-blood bank.) New cord-blood-based treatments for all kinds of diseases are being discovered every year, and they're far more potent and risk-free than standard treatments. We banked Bertrand's blood with CBR, and we've been happy with their service.
   
2. Bone-marrow transplant. If Bertrand isn't eligible for a cord-blood transfer, or we can't find a match, we'll try a bone marrow transplant. Bone marrow isn't actually bone. It's a goopy substance inside bones that contains many kinds of adult stem cells. Adult stem cells are not as flexible as umbilical cord stem cells, which are, in turn, not as flexible as embryonic stem cells. As a result, the bone marrow match needs to be exact for there to be any hope of it succeeding.
   
3. Enzyme replacement therapy. About five of the fifty lysosomal storage disorders have an enzyme replacement therapy available requiring weekly injections of the missing enzyme. If Bertrand isn't eligible for a marrow transplant, this may be our only option. These therapies are only temporary, however, since they cannot protect the brain from decay.
   

If it comes down to bone marrow, we've sorted the options by likelihood of finding a match:

1. First, we'll try the national registry.
2. If there's no match on the national registry, we'll ask close and distant family members that have volunteered to test.
   
3. If there's no match among close family members, we'll ask everyone else that has volunteered to test.

If you're fired up and you'd like to test anyway, you can join the national registry. If you join, you may be asked if you'd be willing to donate if you're ever found to be a strong match for someone else. To join the national registry, you can order a cheek-swab kit from them and mail in your sample. After you join, you can request a copy of your HLA tissue-typing report to send to us.

If you wait, we'll be able to provide you with detailed instructions on where to test and what to send us. Of course, we can cover the cost of the lab test too. And, you can choose whether or not to join the national registry.

If you're curious about the marrow-donation process, it's advanced a lot over just the past several years. Thankfully, the majority of donations no longer require surgery. If Bertrand's Doctor were to request surgical donation, it usually involves an incision in your hip or leg under general anesthesia. Regardless of the donation method, most donors are back to work within one to seven days, feel no effects of having donated within three weeks and have fully regenerated the donated marrow within six weeks. So, mostly, you just get a week off work, and you end up saving a life in the process!

Dr. Joanne Kurtzberg

A friend of my father's, Suzanne, introduced us to Dr. Joanne Kurtzberg at Duke University. She is already reviewing his medical records and prior MRI. A trip to North Carolina maybe in the near future. If anyone can help Bertrand, she can. The following is her biography from the Children's Miracle Network.

Dr. Joanne Kurtzberg’s career is a history of medical firsts. As program director for Pediatric Blood and Marrow Transplantation at Duke University Medical Center, she has been at the forefront of research and treatment for decades.

Dr. Kurtzberg pioneered the use of unrelated umbilical cord blood transplants for children with resistant cancers and rare metabolic diseases, and she personally performed the first unrelated cord blood transplant. Hundreds of children used to die each year awaiting a genetically matched adult bone marrow donor. Since cord blood does not have to be perfectly matched to be a successful source of stem cells for a child’s transplant, Dr. Kurtzberg’s work is changing that statistic dramatically. Dr. Kurtzberg and her team at Duke have performed more cord blood transplants than any other group, saving the lives of many children who otherwise had no hope for survival.

“Just within the last year we treated 12 newborns who had a disease that would have made them severely disabled by one to two years and then killed them,” says Dr. Kurtzberg, “and all those children are alive and walking, at normal schools and are able to have normal lives.”

Dr. Kurtzberg is also giving children with genetic disorders that were once a death sentence a reasonable chance for a healthy life. Her team specializes in treating rare inherited disorders that cause severe neurological damage and death. When children with these deadly diseases recieve transplants in time, the disease can be --and has been --stopped before it starts.

Dr. Kurtzberg is known worldwide as a pioneer in children’s healthcare. To her patients and their families, she is simply the doctor they can’t live without.

“All of the children I take care of come to us as a last hope, but they have incredible wills to live. I am inspired everyday by the families and the children themselves who I treat.”

Dr. Longo to see Bertrand

Dr. Longo, a physician/scientist here at the University of Utah, and a leading expert on metabolic disorders such as Bertrand's, will see us on Monday, March 16th.

I emailed him, as a desperate parent and as a fellow professor, and he immediately pushed us to the front of the waiting list.

We are very grateful.

UPDATE: It is worth mentioning, there is typically a 6 month plus wait time to see Dr. Longo.

Letter from Olin

Oh, Matt, Cristina. I am so sorry. Cristina's post was very difficult to read;
I had to stop for a minute and take it in two pieces. The whole idea of a baby
bucket list is so wrong -- not the idea, but that one would live in a universe
in which a BBL was the right, excellent idea, that's what's wrong.

I am travelling (to obvious places), but will ring when I get home on Monday.

I have thought a little bit about my own childhood. Here are my BBL ideas.
Probably my #1 lifetime best memory -- I mean *peaking out* here, never
bettered by anything that has ever happened since -- is a block party that my
mom threw for my 4th or 5th birthday. You've seen my home and the quiet little
street in Buckhead where I grew up. We had freaking *ponys*. With carts.
They'd pick you up in the turnaround in front of my house, then give you a
ride down the hill to W. Andrews Dr. and take you up and down the street, then
back up the drive to my house. I think there was a magician. It was a *blowout*
-- World War II, with the original cast.

I vividly remember when I "got" the idea that all of this was *for* *me*. It
wasn't just a big, fabulous time and I got to go with all the other kids. *I*
was the *reason*. I was that important, to *somebody* -- even though I was
just me. The top of my head just about blew off. I literally wandered around
slightly dazed for quite a large chunk of that party just processing that
fact. I remember stating the proposition out loud, to the air, several times,
the way you sometimes do when confronting some incontrovertible fact that is
nevertheless blatantly too good to be even remotely possible. My feet were not
touching the ground. Thanks, Mom; that day is *burned* into my memory. I wish
everyone could be that happy once in his life.

Canadian islands. The World Fair, in 1967, was in Montreal. So my mother
packed up me & my sisters and hauled us off to Expo'67. Which was cool, but
after that, we went to some other region in Canada, uh, "thousand lakes"?,
jumped in a tiny outboard boat with this grizzled old guy and a nanny, and
motored to this isolated little island. By "little" I mean that I could walk
the perimeter, as a 6-year-old, in under 5 minutes. It was *beautiful*. We
played games -- hide and seek in the day and board games at night -- and
walked around, and I hung out with this grizzled old guy that talked funny,
eh?, and had hair in his ears, while he puttered with the boat engine. The
bark on the trees peeled off (no birch in Georgia) So, moral: A small child
understands and enjoys great natural beauty.

I have no constructive advice to offer (and certainly nothing on the topic of
future parenting, whoa), except to say that you don't seem to need any advice.
It's unbelievable how right your every action and reaction has been through
this process. The brains and insight -- by which I mean wisdom, more than
intelligence -- that illuminate your commentary are spectacular, even down to
the sunlight and life that is shot through the darkness and death.

I wonder if your experience with Hall -- especially your last good-time trip
out to visit -- helped get your heads into the idea of doing as much fabulous
living as you can manage while in the shadow of inevitable death. (Which is a
good lesson for everyone, every day, in actual fact.) Boy, overcode got that
one right; you just know he didn't even have to think it through, he just knew
it in his bones.

You are all are in my thoughts.
With love,

--Olin Shivers, Matthew's Ph.D. Advisor & Friend

Bone Marrow Transplant: LOOKING FOR DONOR!

We need to start looking for possible bone marrow donors for Bertrand. This is on the chance that his lysosomal condition is one of those which can be treated with such a transplant. If by some miracle we have a matching donor lined-up (next to impossible) we can get the transplant in a matter of weeks.

PLEASE consider getting checked! The closest match is usually a sibling, but Bertrand doesn't have any. And, neither Matthew nor I may be an acceptable match. :'(

"Doctors look for a donor who matches their patient's tissue type, specifically their human leukocyte antigen (HLA) tissue type. HLA are proteins — or markers — found on most cells in your body. Your immune system uses these markers to recognize which cells belong in your body and which do not. The closer the match between the patient's HLA markers and yours, the better for the patient."
--National Marrow Donor Program

The National Marrow Donor Program has a great page on the ins and outs of HLA Matching and a list of Donor FAQs.

We'll be in touch with Bertrand's doctors this week for many things, including determining his HLA.

Next Steps & ROADTRIP! :)

Even though the National Ability Center wasn't open today, I still left a message with Kim Desautels (an occupational therapist) there regarding starting hippotherapy with Bertrand. Since he loves moving, he'd enjoy being on a horse!

I also downloaded and completed the Shriners Hospital for Children application, so we can start Bertrand on additional physical therapy. Hopefully, his pediatrician will endorse it some time this week so we can get him started as soon as possible.

Tonight, I'll be sending some emails to Drs. Samson-Fang and Longo. I think Dr. Book is a lost cause--the disregard her office showed me and Bertrand last Friday (and every step of the way through this process of diagnosis) is appalling. We're getting a new GI doctor. Grr...

And, Monday, I want to hit the ground running with the additional lab work, including the mass spectrometry and blood/fibroblast analysis. Our goal is a diagnosis by the end of the week. A liver biopsy shouldn't even be necessary.

In much more fun news, we are planning a trip to Chuck E Cheese's and a roadtrip to Colorado over spring break! Bertrand will stroll through Arches National Park, splash in the Glenwood hot springs, hobnob in Vail, and eat yummy food with 3 of his aunties (Mimi, Saby & Beli)!

View Larger Map
View Larger Map

P.S.--I desperately want a camcorder. One might fall into our cart the next time we visit CostCo. I want to record every moment of Bertrand's that I possibly can.

Letter from Sabrina

I am a fan of Chuck E Cheese. We can throw Beli in the ball bit and let the little kids beat her up, and I'll take embarrassing Facebook pictures! hehe.

Bertrand definitely couldn't have ask for better parents. My only suggestion for the list is to continue doing what you and Matt are doing- to love him. Let him know every minute that you love him. Because you don't know you won't be able to say it anymore. Not everyone is fortunate enough to experience that type of love. In that aspect, if you ask me- he is a pretty lucky kid.

Love you! Call me anytime!

--Sabrina Casanova, Bertrand's Aunt

Treatment options

The Hide and Seek Foundation is the central organization for Lysosomal Storage Disease, the category to which Bertrand's disease belongs. On their site, they discuss the experimental treatments.

Enzyme replacement therapy is expensive, can't prevent or delay mental retardation, and it only works for about four of the fifty disorders. Injected enzymes can't cross the blood-brain barrier.

A bone marrow transplant, if successful, would allow the enzymes to be produced, and to cross the blood-brain barrier, possibly halting further mental retardation. This would also require finding a compatible bone marrow donor as fast as possible. Using another baby's healthy cord blood for transplantation is another possible treatment.

Stem cell transplants are a promising treatment option, but not enough research has been done yet. Conceivably, healthy stem cells could be injected into his marrow. Then, he could grow his own marrow to produce the enzymes he needs, without the risk of rejection. Unfortunately, stem-cell research has been effectively banned until last week, when President Obama lifted the ban. The lifting is years too late for Bertrand.

The only hope for a cure is gene therapy, in which a specially constructed virus would effectively "infect" Bertrand and repair every cell in his body. In the long run, gene therapy will be the way to go, but at present, there just hasn't been enough research to make it safe. [All attempts to date involving gene therapy have killed the patient with the specially constructed virus.]

Sadly, none of these options can reverse the damage that's already been done, even if totally successful.

We'll be consulting with Bertrand's physicians, but it looks like bone marrow and/or cord-blood transplants are in his future. Of course, there are major risks associated with these options, and there's no guarantee they'll work. But, we have to try, and we have to try quickly.

A Grandfather's Take

I went to my office this morning and then to the library. In my own reading it is still peculiar that Bertrand does not seem to exhibit the characteristic changes of patients with oligosaccharidoses. He does not have a coarsening of the facial features, his bone strcture is normal, he does not have enlargement of the liver or spleen, no hearing loss, big tongue, etc., etc., etc.

In regards to diagnoses I read the following from the first volume of Pediatric Neurology: Principles and Practice (4th ed) ed by Kenneth Swaiman:

Patients with glycoproteinoses have excessive urinary excretion of oligosaccharides, the pattern of which can be discerned by thin-layer chromatography. More recently, electrospray ionization-tandem mass spectrometry has been used to dientify characteristic oligosaccharides profiles from small samples of urine, plasma, or whole blood spotted onto filter paper (Ramsey et al. 2003). However the diagnoses of the particular underlying enzyme deficiency still requires the performance of relevant biochemical assyas on leukocytes or cultured skin fibroblasts.

Ramsey SL, Meikle PJ, Hopwood JJ: Determination of monosaccharides and disaccharides in mucopolyshaccharidoses patients by electrospray ionization mass spectrometry. Mol Gen Metab 2003;78:193.

There was no mention of a liver biopsy.

I think the first step is to see whether the thin layer chromatography was performed on the urine.

--Manuel F. Casanova, Bertrand's Grandfather

A Mother's Take

The past few hours have tested my optimism. I can't even put into words what it feels like to hear that it's likely your child's life is more than half over--at only 14 months old.

I am in a dream that has morphed into a nightmare. I was given a beautiful, adorable baby boy--even when he was still inside of me I loved him more than I thought it was possible to love anything. And now, I have to watch him suffer and die? I can't believe it is true, yet. I won't.

"Ultra-orphan disease" is a four-letter word in my book. But... I am not going to dwell on it.

I am working toward clearing (or obliterating) my schedule. I had been trying to get out, work, make new friends, but screw new friends. I don't need them. Bertrand's my BFF. We'll be hanging out doing cool stuff together every day. :) Anyone who wants to tag along is welcome.

We're putting a baby bucket list together which B and I will attack. (I am taking suggestions for the list so please email me some!) Bertrand is going to have the best next ~21 months that any baby has ever had! He'll have more books, trips to the farm & zoo, horseback riding, maybe even some sailing! ;)

By the way, I don't care how well meaning, please don't mention us having another child. Not amnio, not adoption, not genetic counseling, not anything. Please don't mention it around me because I am not responsible for what I may do. I don't want another child. I want Bertrand. End of story. So, let's just not go there now. Thanks.

But, speaking of counseling, Matthew and I are going to start seeing a counselor two weeks from now. Counseling comes highly recommended from other parents of special needs children. Now, it seems like we may be facing both the needs of a special child AND his loss. We'll need all the help we can get.

Even expecting all this, we feel so lucky--so happy--to have Bertrand in our lives. We love him.

Bad news

Bertrand's oligosaccharide screen and then test came back positive, indicating a glycoprotein storage disease. Glycoprotein storage disease, or more generally, lysosomal storage disease, is actually a family of inherited (double recessive), genetic diseases. Any child Cristina and I have would have a 25% chance of acquiring this disease. We don't know which one he has yet, but the differences between them matter more to biochemists than to patients: all are progressive, largely untreatable, incurable and fatal.

In short, every cell in Bertrand's body (all 25 trillion or so) has a defective metabolism. As his cells metabolize, they are failing to fully recycle molecular waste, due to a missing enzyme. In this case, it's some kind of yet-to-be-determined sugar that he's not recycling. Over time, this waste accumulates in the cells and destroys them.

We don't know how long he has, but some searching indicates he may live to three years or just beyond. We'll know more once we complete the next round of tests, and once we finish consulting with the rest of his physicians. We are holding on to what little hope is left, but it seems that the window for miracles is about to close.

Of course, we will do everything possible for him. And, if that fails, we'll try the impossible.

Next Step: Liver Biopsy

Speaking with Dr. Book's office, they'll be scheduling a liver biopsy sometime within the next two weeks. They want to do this ASAP. They will let me know on Monday. Bertrand is also being shoe-horned into Dr. Book's schedule immediately after the biopsy. To the best of my knowledge, Dr. Longo is still being consulted, if not yet directly involved.

The Results Are In

"In this sample abnormal oligosaccharide bands were present if clinically stated (manifestations consistent with underlying lysosomal storage disease) consider ruling out oligosaccharidosis."

Sadly, this indicates yet another degenerative, non-treatable diagnosis. Hopefully, as we work toward figuring this out, that will not be the case. I have been in contact with Dr. Linda Book and Dr. Lisa Samson-Fang's offices. Hopefully, one of them will get back to me today.

Getting Spoiled!

Wow! It looks like Christmas Day over at Nana & Papa's. :) Mama and Dada are going to get one spoiled, little Bertrand back! It looks like B is mastering the rocking... horse? caterpillar? Whatever that thing is, at least it is padded. :) Bertrand, you are too young to be saying, "Look, Ma! No hands!" Hold on to your rockapillar, boy!









The amazing Elmo doll is courtesy of (Great) Grandma Hollandsworth. B looks entranced by it! Bertrand is one loved little baby. :)

The Oligosaccharide Test - Still No Result

The result from the urine oligosaccharide test still has not come in. I will be checking back in with the lab in the morning. However, today I learned that for the oligosaccharide screen there tend to be false negatives, not false positives. Since Bertrand's screen came back positive, we are hopeful that our search for a diagnosis is coming to a close.

Physical Therapy: Six Month Review POSTPONED

This morning, Bertrand's physical therapist called. Kirsten said that her daughter was sick and Meghan, Bertrand's speech therapist, had the flu. Therefore, they couldn't make his six month review. Since it is primarily just paperwork (the testing was completed last week), we're tentatively holding the review next Monday.

In other news, yesterday, I met Lynn, Gary and Kevin at our neighborhood book club. They just moved from Boston, and Gary works up at the U with Matthew. Lynn is facing the similar issues I am, as she's also a new stay-at-home mom to Kevin, their beautiful 15 month-old baby boy.

Lynn and Kevin invited Bertrand and me to become a part of their Tuesday playgroup! Bertrand and I couldn't be more excited! There are 3 other kids in the group, in addition to Kevin, so B would make the total 5. Our first play date in on March 24th!

Funny enough, Lynn and Kevin ALSO keep a blog! Together, they review children's books. Their blog is called Infant Bibliophile. Bertrand and I look forward to reading several of the fantastic books they've reviewed since B is quite the reader as well. :)

Meeting good people like Lynn and Gary (and Kevin) make putting roots down in Salt Lake City a lot easier.

Saccharides and Such

Being the impatient person I am, I called the Intermountain Lab today to see if Bertrand's urine test result was in. It is not, but it'll be back in 5-7 days. The sample was sent to the Mayo Clinic Laboratory. Since a lot of you have asked, I don't know the full name of the test, but it was called something "saccharides".

Now for some good news! Bertrand's alpha-fetoprotein level is down to 85.4!!! (The normal range is from 0-15, but his level is down from being the 1,000s.) Other news is that his ALT is 318 (normal range is from 5-45) and his AST is 184 (normal range is from 20-60). I believe those two values have stayed fairly constant.

Hopefully, we are converging on a diagnosis. I'll be bugging the Lab again on Tuesday to see if they've received the urine test result.