The gift of Life

From: Tamara Buniger [mailto:tamaramya@gmail.com]
Sent: donderdag 14 augustus 2014 23:02
To: Knaap, MS van der
Cc: Jason Buniger
Subject: 23 month old w/Leukodystrophy Diagnosis

Hello Dr. Marjo van der Knaap, 

I am writing because while doing some online "research" I came across your name several times as one of the leading doctors for the field which would encompass Leukodystrophy patients. 

My son, Noah, was diagnosed a few weeks ago with general Leukodystrophy. Blood work and Spinal tap came back considerably normal, but MRI scans showed signs of the disease. I would be very appreciative if you could take a look. We are really praying he does not have this devastating disease or if so, we can do the best we can for our baby. 

I have attached the MRI's as .DCM files. There is a zip file from May2013 and one from July2014. Please let me know if you have received them and if this file type is acceptable. 

Noah has a mild hearing loss, amblyopia in one eye (slight), developmental delay (learning new skills all the time, but behind). He is otherwise healthy and his birth was uncomplicated . 

Thank you! 

Tamara Buniger

On Aug 15, 2014, at 4:30 AM, "Knaap, MS van der" <ms.vanderknaap@vumc.nl> wrote:

Dear Mrs. Buniger,

Thank you. Your son has multifocal white matter abnormalities with an asymmetrical distribution. They are not indicative of a leukodystrophy. Most likely your son has a stable problem, not something progressive. I would rather think of causes like a congenital infection or chromosomal abnormalities.

Feel free to share my e-mail with your son’s doctor. OK?
Kind regards,

Marjo van der Knaap

___________________________________________________________

After reading this email I ran to wake up Jason so that I could read it to him. He and I were cautiously "over the moon!" I went back to Noah's room to play with him and just kept thinking; 

• Was there something I forgot to tell this doctor? 
• Is this a sick joke? Is it someone else with her email pasting mumbo jumbo into an email to make parents more hopeful?
• Did she see both sets of MRI's? What if she accidentally only looked at the first set? 
• What if our doctor doesn't agree or isn't willing to look into it?? 

We shared the news with only a couple people. To be honest, Jason found Dr. van der Knaaps name a couple weeks ago, but we didn't have copies of his MRI's yet and weren't pushing for them. Coulda shoulda woulda... 

Later that day, we had our first appointment with a nutritionist. Jason and I have been playing google and common sense nutritionist for the past few weeks and had changed Noah's diet already, but I wanted to make sure we weren't doing anything harmful. Noah will get added DHA/EPA's now, spirulina, wheat germ, herbs and chia seeds to name a few added into his daily foods. There are so many things to weigh out! If I give the vegetarian DHA in his fruit, can he also eat fish later or is it too much? Are we balancing his Omega's correctly? I know we need a good ratio of 3,6 & 9, but are we achieving it? What is omega 9? I came with lists and pictures and example meal plans and needless to say, I think I overwhelmed the Nutritionist and we didn't get much from the appointment after that. I did find out that it would be really hard to overdose on brain healthy fats, so that's good. Our nutrition questions will be directed at Ming going forward, who is a doctor of acupuncture and Chinese medicine who works with my aunts and cousins and I think is another miracle worker. 

After the appointment since we were in the hospital and Noah was in good spirits, I decided to try to hunt down our Metabolic Neurologist to read him the email so that perhaps he could ponder it over the weekend and tell us something good when we see him on Tuesday. They would not let me see him, but they gave me the number to the office and said I could try to call. I went to the car and called the doctor. Once again they put me right through!! Dr. Larson, our metabolic Neurologist is amazing. I read him the email and then followed up by telling him how I thought it might not be real because our response came so fast and was such good news. He laughed and said it's very real. His office works with Dr. van der Knaap often, as she is the expert in all things white matter. He said that over the past couple days, he and his team of radiology experts were going over his MRI's because something just didn't seem to add up and that they had come up with the same conclusion. Static, not progressive. 

Here is what we have been waiting to see if Noah had since July 23, most of which have a prognosis of 2-8 years for a child:

• 18q Syndrome with deficiency of myelin basic protein
• Acute Disseminated Encephalomyeolitis (ADEM)
• Acute Disseminated Leukoencephalitis
• Acute Hemorrhagic Leukoencephalopathy
• Adrenoleukodystrophy X-Linked (ALD)
• Adrenomyeloneuropathy (AMN)
• Aicardi-Goutieres Syndrome
• Alexander Disease
• Autosomal Dominant Diffuse Leukoencephalopathy with neuroaxonal spheroids (HDLS)
• Autosomal Dominant Late-Onset Leukoencephalopathy
• Childhood Ataxia with diffuse CNS Hypomyelination (CACH or Vanishing White Matter Disease)
• Canavan Disease
• Cerebral Autosomal Dominant Arteropathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
• Cerebrotendinous Xanthomatosis (CTX)
• Craniometaphysical Dysplasia with Leukoencephalopathy
• Cystic Leukoencephalopathy with RNASET2
• Extensive Cerebral White Matter abnormality without clinical symptoms
• Familial Leukodystrophy with adult onset dementia and abnormal glycolipid storage
• Globoid Cell Leukodystrophy (Krabbe Disease) 
• Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (HABC)
• Hypomyelination, Hypogonadotropic, Hypogonadism and Hypodontia (4H Syndrome)
• Lipomembranous Osteodysplasia with Leukodystrophy (Nasu Disease)
• Metachromatic Leukodystrophy (MLD)
• Megalencephalic Leukodystrophy with subcortical Cysts (MLC)
• Neuroaxonal Leukoencephalopathy with axonal spheroids (Hereditary diffuse leukoencephalopathy with spheroids – HDLS)
• Neonatal Adrenoleukodystrophy (NALD)
• Oculodetatoldigital Dysplasia with cerebral white matter abnormalities
• Orthochromatic Lleukodystrophy with pigmented glia
• Ovarioleukodystrophy Syndrome
• Pelizaeus Merzbacher Disease (X-linked spastic paraplegia)
• Refsum Disease
• Sjogren-Larssen Syndrome
• Sudanophilic Leukodystrophy
• Van der Knaap Syndrome (Vacuolating Leukodystrophy with Subcortical Cysts or MLC)
• Vanishing White Matter Disease (VWM) or Childhood ataxia with diffuse central nervous system hypomyelination, (CACH)
• X-linked Adrenoleukodystrophy (X-ALD)
• Zellweger Spectrum: Zellweger Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease

We don't know anything more than the above, but what we do believe is that we will not have to watch our sweet Noah regress. He is learning new skills every day and we are so happy that he will be at the Rise school starting on Monday, where he will have therapy every day, learn to sign, learn about his friends and why they're special and continue to improve! As a bonus, Noah will do aftercare at BMH-BJ with Chaya, Bracha and his friends! 

I am not mad at our first neurologist who called me on a Wednesday afternoon and began with "I hate to give this kind of news on the phone". I am not mad at her for telling us that Noah may not be a good candidate for Bone marrow transplant because he has had his symptoms too long. I am not mad that she told us to halt our family planning, as Noah had a rare genetic disease.

I am not mad because Jason and I, our family and friends have been given a rare perspective that our precious son, great-grandson, grandson, nephew, cousin and friend, will likely not make it into his teenage years and that we would have to watch him suffer through his regression over the next several years. I wouldn't have ever asked to be given this perspective, but I am grateful. Life looks so different now. Being a mom is different now. 

We may still have a long road ahead, but it's looking so much brighter and more beautiful! 

Baruch HaShem! !ברוך השם