June 9, 2014

NIH, Day 1

Bertrand was admitted today under three different research "protocols" at the NIH.

Almost every system of his body will be under intense study by leading specialists for the five days.

There are many research goals, but most are centered around two chief objectives:

 (1) What is Bertrand's phenotype? (What are the symptoms?)

 (2) What is the natural progression and spectrum of his disorder, NGLY1 deficiency?

Because of the second objective, Bertrand is just the first of several NGLY1 patients to be admitted under these protocols.  The NIH needs to study and intends to study as many NGLY1 children as possible as part of this research.

Shedding light on the variations between the patients is critical to understanding, treating and curing the disorder.


Bertrand sleeps

Every day at the NIH will be intense.

Day one was no exception.

We arrived at 7:30am for admission.

Bertrand slept through it:



After that, Bertrand slept through his weigh-in:


Then he slept through his height measurement and vitals:



After that, we met with Lynne Wolfe and Christina Lam for an introduction and overview.  Lynne and Christina have put tremendous effort into developing the protocols under which Bertrand is being studied and into the military-invasion-level logistics of coordinating so many doctors in so little time.

We also briefly met with Bill Gahl, director of the Undiagnosed Disease Program (UDP) at the NIH.  (Bertrand is also being studied under a protocol from the UDP program.)

Bertrand took the opportunity to sleep some more:



The draw

We headed to phlebotomy next, where Bertrand slept while waiting:



until he realized he had to fill every vial on this tray with blood:


In a moment of karmic vengeance years in the making, Bertrand literally (yet quite accidentally) kicked the unsuspecting phlebotomist in the nuts while he drew blood.


Consulting with the experts

We had an excellent consult with physiatrist Scott Paul and occupational therapy specialist Becky Parks.  They were able to provide insight into better therapies and techniques for Bertrand, ranging from better stances for his stander to new equipment to enhance his aquatherapy.  They also recommended a near-total overhaul of his wheelchair, since he is growing much faster than expected.

Next up, we had a surprise visit from Donna Krasnewich, a leading scientist and physician on disorders of glycosylation.  Donna has seen almost every patient out there with a CDG, and she was excited to meet Bertrand, the first known case of a disorder of deglycosylation.

After a thorough inspection, she found many similarities between Bertrand and the traditional CDG patients.

She also found a handful of notable differences.

Discovering these similarities and differences will help scientists understand both NGLY1 deficiency and traditional CDG.

That understanding brings both closer to treatments and cures.

This week is all about building that understanding.


Lunch

At this point, we'd run out of time for lunch.

Out of nowhere, an angel (Bertrand's "Aunt" Niki Hyer) appeared out of nowhere with a delicious spread from Founding Farmer's:



After that, we headed over to get an EKG (primarily to confirm the absence of long QT syndrome).


The IV team

To avoid ringing the doorbell on any further phlebotomists, they decided to get Bertrand an IV from which they could draw blood freely.

Since Bertrand is a difficult stick, they used an ultrasound to find a vein.



After about 10 minutes of scanning both arms with the ultrasound, the IV tech looked up and said:

"He's got only one vein left."

"And, it's small."

"I need backup because we're only going to get one shot at this."

Some kind of phlebotomist-ninja hybrid was summoned while Bertrand was pinned down to prevent any and all movement.

The hybrid guided the needle in under ultrasound while Bertrand howled and writhed.

Blood squirted onto the table.

They got the vein.

30 seconds later, his IV was wrapped, and we were on our way.


Skeletal

Next up was a full skeletal survey in radiology.

Bertrand slept first:


Then they spent about an hour taking skeletal scans:




The science

After that, we met Bertrand's genetic counselor, and had a long chat with Lynne Wolfe about the importance of these protocols and the valuable information they yield -- for the patients and for science.

In the final meeting of the day, we met with an immunologist researching the peculiar and intriguing immune system properties of CDGs, Sergio Rosenzsweig.

He gave us insights into the way NGLY1 deficiency and other CDGs can influence the immune system.

8 comments :

  1. am from usa.am here to give my testimony about how i got my hiv disease and how i flew it quickly after having trust on my spell doctor who cured me immediately .since the year i married to the man i didnt love because my parents false me to marry him.i have been enjoying relationship and sex life with him .he do spend time on work and dont have time for me . sometime he do sleep at his work and also do carry women because he has the money to spend but doesnt spend it on me . so i was so jealous to the extent that i cant control my anger and i decided to start cheating on him with exboyfriend . because my husband donot always be at home except on weeend .i have sex with him without protection .after somemonths been in love with my exboyfriend i was so sick and decided to go have a test and i found i was hiv positive . i feel so sad and i was ashamed because i didnt now how to open up to my husband i hate before my exboyfriend denied me and when my husband found out about what wads going on he devoirced me and i was ill for good 3years i went to many places for solution but there was no solution . so one day i was asing GOOGLE some question on how i can get a cure and how i can get some medication which i will be taking to my own suprise they brought one email out named drogodomigodospiritualhome@gmail.com that this powerful man can cure hiv i didnt believe about the cure before but i toke the email and search it on GOOGLE and found many good testimonies about him people have been giving more testimonies about him so i contacted him about my situation . he told me all the procedures which i will take and i did before i knew what was happening he called me and told me to go for an hiv test which i did and when the result was out i was hiv negative .thanks to drogodomigodo now as i am giving this testimony am fully settled down with my husband now and we love ourselves .i give this testimony for people around that was in my shoes so that they can also be cured like me .so if you also need a solution also you can email him at DROGODOMIGODOSPIRITUALHOME@GMAIL.COM

    ReplyDelete
  2. DR Oluku is the only Dr who could ever get my HIV-AIDS cured with his healing spell, i have tried almost everything but i could'nt find any solution on my disease, despite all these happening to me, i always spend alot to buy a HIV drugs from hospital and taking some several medications but no relieve, until one day i was just browsing on the internet when i come accross a great post of !Michelle! who truly said that she was been diagnose with HIV and was healed that very week through the help of these great powerful healing spell doctor, sometime i really wonder why people called him Dr Oluku the great, i never knew it was all because of the great and perfect work that he has been doing that is causing all this. so i quickly contacted him, and he ask me some few questions and he said a thing i will never forget that anyone who contacted him is ! always getting his or her healing in just 6 hours after doing all he ask you, so i was amazed all the time i heard that from him, so i did all things only to see that at the very day which he said i will be healed, all the strenght that has left me before rush back and i becomes very strong and healthy, this disease almost kills my life all because of me, so i will to hospital to give the final test to the disease and the doctor said i am HIV negative, i am very amazed and happy about the healing Dr Oluku gave to me from the ancient part of africa, you can email him now for your own healing too at: drolukuspellhome@gmail.com

    ReplyDelete
  3. DR Oluku is the only Dr who could ever get my HIV-AIDS cured with his healing spell, i have tried almost everything but i could'nt find any solution on my disease, despite all these happening to me, i always spend alot to buy a HIV drugs from hospital and taking some several medications but no relieve, until one day i was just browsing on the internet when i come accross a great post of !Michelle! who truly said that she was been diagnose with HIV and was healed that very week through the help of these great powerful healing spell doctor, sometime i really wonder why people called him Dr Oluku the great, i never knew it was all because of the great and perfect work that he has been doing that is causing all this. so i quickly contacted him, and he ask me some few questions and he said a thing i will never forget that anyone who contacted him is ! always getting his or her healing in just 6 hours after doing all he ask you, so i was amazed all the time i heard that from him, so i did all things only to see that at the very day which he said i will be healed, all the strenght that has left me before rush back and i becomes very strong and healthy, this disease almost kills my life all because of me, so i will to hospital to give the final test to the disease and the doctor said i am HIV negative, i am very amazed and happy about the healing Dr Oluku gave to me from the ancient part of africa, you can email him now for your own healing too at: drolukuspellhome@gmail.com

    ReplyDelete
  4. DR WILLIAMS HERBAL CURE TO TINNITUS

    Appreciation is the key to doing more that is why I have took some time out to thank some one who cured me of my 4 years tinnitus problem. It became a major problem to me as it was affecting my marital life and I was no longer comfortable so I decided to look for a solution and I came across a post of Dr williams and how he has been helping people of the same problem with his herbal remedies I contacted him and told him all I have been facing in my life. He told me how to get his product and how to take it after every thing I find out that all was now okay with me and that my tinnitus problem was gone that is why I have come out today to say thank you to him and for any tinnitus problem either from man or woman. Contact him on drwilliams098765@gmail.com his a man that take good care of his children

    ReplyDelete
  5. I have had two myomectomy, abdominal in 05/2012 and laparoscopy in 02/2014. I have never been pregnant; not to my knowing. I’m feeling hopeless and the fibroids are growing again. Doctor said that it look like I may need another myomectomy. I know that I have a fibroid the size of a goose egg(6cm).so i was online looking for help when i saw a post about this dr buba who has helped many with root ans herbs so i wrote to him he gave me some advice and told me what to do which i did then he sent a bottle of a herbal drug to me through DHL which i used for seven days and today i am cured already all thanks to him if you
    are in my shoes or have any related sickness
    HIV AND AIDS
    HERPES
    CANCER
    STDS
    Etc
    CONTACT DR.BUBASPELLHOME@GMAIL.COM OR CALL +2348087937686 FOR URGENT HELP

    ...

    ReplyDelete
  6. Hello everyone,My name is Tessy Campbell am from United State,i want to give a life testimony of how Dr.Egodi cured me from HERPES SIMPLEX VIRUS,i was having this virus for 5years,i have went for treatment several times to different hospitals and clinics to find solution to this particular disease,but there is no way out,so one day i just going through pages on Google,i saw so many people giving testimonies of a particular spell caster on how he has helped them to cure their problems and diseases,i saw a particular testimony on how he cured a woman Cancer so i was doubting him because i don't believe that this man is real,so i said let me just give him a trial to see if he can also help me to cure this disease,then i contact him to explain my problem to him,and he only said that i have come to the home of solution where all problems and heart desire are solved if only i believe and have faith in his Herbal Medicines,then he told me how much to pay for him to deliver this herbal medicine to me here in my country,which i did by paying the money and he gave me an instruction on how to use it,after using it for 7days he ask me to go for checkup that is how i was cured and free totally from this virus,so if you are having any types of diseases i will advice you to contact him so that he can also cure you,and he cures so many kinds of problems like,
    1- LOVE SPELL TO RETURN YOUR EX LOVER.
    2- LOTTERY SPELL.
    3- PREGNANCY SPELL. .
    4- STROKE.
    5- CANCER.
    6- HYPERTENSION.
    7- LOW SPERM COUNT.
    8- ASTHMA.
    9- VIRGINAl PROBLEM.
    10- DIARRHEA.
    11- PILE.
    12- COLD SORE.
    13- HYPERTENSION.
    14- DIABETES.
    15- RESISTANT STAPHYLOCOCCUS AUREUS.
    And so many kinds of diseases.
    Just believe and contact him personally.

    CONTACT HIM VIA THIS DETAILS:
    WHATS-APP NUMBER :+1 518 554 6773
    Email:dr.egodisolutiontemple01@gmail.com

    ReplyDelete
  7. Hello everyone,My name is Tessy Campbell am from United State,i want to give a life testimony of how Dr.Egodi cured me from HERPES SIMPLEX VIRUS,i was having this virus for 5years,i have went for treatment several times to different hospitals and clinics to find solution to this particular disease,but there is no way out,so one day i just going through pages on Google,i saw so many people giving testimonies of a particular spell caster on how he has helped them to cure their problems and diseases,i saw a particular testimony on how he cured a woman Cancer so i was doubting him because i don't believe that this man is real,so i said let me just give him a trial to see if he can also help me to cure this disease,then i contact him to explain my problem to him,and he only said that i have come to the home of solution where all problems and heart desire are solved if only i believe and have faith in his Herbal Medicines,then he told me how much to pay for him to deliver this herbal medicine to me here in my country,which i did by paying the money and he gave me an instruction on how to use it,after using it for 7days he ask me to go for checkup that is how i was cured and free totally from this virus,so if you are having any types of diseases i will advice you to contact him so that he can also cure you,and he cures so many kinds of problems like,
    1- LOVE SPELL TO RETURN YOUR EX LOVER.
    2- LOTTERY SPELL.
    3- PREGNANCY SPELL. .
    4- STROKE.
    5- CANCER.
    6- HYPERTENSION.
    7- LOW SPERM COUNT.
    8- ASTHMA.
    9- VIRGINAl PROBLEM.
    10- DIARRHEA.
    11- PILE.
    12- COLD SORE.
    13- HYPERTENSION.
    14- DIABETES.
    15- RESISTANT STAPHYLOCOCCUS AUREUS.
    And so many kinds of diseases.
    Just believe and contact him personally.

    CONTACT HIM VIA THIS DETAILS:
    WHATS-APP NUMBER :+1 518 554 6773
    Email:dr.egodisolutiontemple01@gmail.com

    ReplyDelete