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

Thank you for helping me grow... Here I go!!

Today was Noah's last day at BMH-BJ Preschool, as Noah is going to start at his new school this month for the beginning of the school year. Jason and I see this transition as bittersweet. We are sad to leave BMH-BJ, but looking forward to the new chapter and hopefully something great for Noah.

Bittersweet (leaving BMH-BJ) 

Noah has been at BMH-BJ Preschool since he was 3 months old. Leaving your new baby with people you don't know is hard, which is why we decided to take Noah to BMH-BJ. On top of all of the lovely staff and the school being housed within our Shul, Aunt Sami works in the giftshop down the hall from the classrooms and was able to sneak pictures of Noah for me throughout the day. I think she was bribing the teachers with treats, but who cares. :) Liliya, Yelena and Nataliya took amazing care of Noah and even helped us to realize he may need glasses during his time there.

 

The transition to the next class when Noah was 11 months old was difficult for all of us, except Noah. There was a lot of change happening all at once. Noah was being called a "toddler" and that means new environment and new expectations. At 10 months, Noah got his hearing aids, so we were also dealing with that. In his new class, there were a lot of small differences from the baby room, which seemed huge; New teachers who we didn't know, the kids ate at a table with little kid chairs, no high chairs, the bottles changed to sippy cups and most of the kids were toddling around, crawling or walking. Noah at 11 months was not quite sitting up on his own without assistance. These teachers had their hands full and had  not yet had the privilege of working with a toddler with special needs. Around his 1 year birthday, Noah started to become toddlerish. He did not want to wear his hearing aids anymore and would pull them out as soon as they went in. Noah was also the only kiddo who wasn't mobile yet and this was a challenge while other kids would take his toys and he was left without. At this point, Jason and I spoke with one if his therapists and got some recommendations for some new schools which are more specialized. We visited one in particular which we loved and got onto their YEAR long waiting list! In December of 2013, a few months into Noah's school year, I went to India. One morning I open my email to find an email with the subject line "From the Butterfly classroom" .... 

Enter, Chaya. 

From that day on, we received an email every single night detailing what the kiddos were doing throughout the day, what songs they were singing, challenges and upcoming events. On Saturday after Shabbos, Chaya would send pictures of them from the week. Each and every day from then on was amazing. I do believe that Chaya was one of our many miracles. 

Chaya is absolutely amazing! She helped us with some lunch ideas for Noah which would have more protein so he would get through the days better and sleep better, she kept us updated on Noah's progress and asked tons of questions about him so that she could do her best to help him move forward. Chaya is amazing with our therapists and takes what she learns from them and applies it to the rest of Noah's daily activities. She is always coming up with new projects for these toddlers from sensory activities and nature walks to art projects. Chaya is genuinely excited each time Noah reaches a new milestone and pushes him to his limit which only she and a couple others know. Chaya does her best to include Noah in every activity and weighed down a "shopping cart" with water bottles so that Noah could use it to walk with the kids to the playground or fisher hall to play!  

When Noah got his diagnosis, Chaya wrote to me that night to see how we were doing and offer to help. I told her about the diet we wanted for Noah and the very next day she had Organic milk with DHA, Organic unsweeted applesauce, chopped fresh spinach and flaxseed for Noah!!! She has been praying for him and she is one of our answered prayers. 

Bittersweet (new journeys) 

Noah's new school integrates therapy throughout his regular school day. Their mission is to make sure everyone regardless of their ability level is being challenged and is ready for their next school. I love that Noah will be in an integrated environment where about half of the kids are typically developing and half with special needs and all of Noah's teachers will be involved in meeting his IEP goals. Noah will meet kids of all abilities and hopefully learn from each of them. We see in the testimonials, the compassion that each child has for one another and we are excited for this new journey. 

Jason and I have really struggled with the decision of where to put Noah this fall. Do we keep him at BMH-BJ where he is loved and cared for by Chaya and the rest of the staff or do we change it all up and hope that this new school provides the same feelings of comfort to us and love to Noah? Ultimately we decided to send him to this new school. . . I think. ;) Right now Noah needs all the help he can get to stay strong and progress. 

Without a doubt, we will visit Chaya and keep her updated on all of Noah's milestones. 

If you read this, Chaya... Haha, I put you on social media again. 😁 We love you!! 

Shehechiyanu...! 

Modeh Ani

I am Jewish. I have always had a strong sense of what that means and how it ties in with family, but always considered myself a "traditional" Jew and not "orthodox". Traditional to me means that I participate, I love being with family, I love the traditions, but the meaning behind some of them are lost. For an Orthodox Jew, I would imagine they not only understand and believe all of the meanings and laws, but follow all of the laws; No driving on shabbos, kosher diets, modest dress, etc. I belong to both a reform synagogue (Temple Emanuel) and a modern Orthodox synagogue (BMH-BJ) and feel welcome and comfortable in both. 

My family is Jewish and I was raised Jewish. We have Friday night Shabbos dinners every week at Savta's [grandmother in hebrew] house, Savta and I go to Shul [Synagogue] every Shabbos, we celebrate all of the major holidays and festivals together as a family, I went to a Jewish preschool and elementary school, had a Jewish wedding, send Noah to a Jewish school, etc etc, but never felt super "religious" or very observant. Maybe I'm just hung up on terminology, but recently I have suddenly been reinvigorated with faith. 

Miracles are real. 

During Shabbat services I usually read all of the prayers, sometimes in English to remind myself what we're saying, sing along with the tunes I am familiar with, and listen to the clergy, but usually the most meaningful part is when there is silence and everyone is praying the Amida and I am asking G-d for favors or thanking G-d for great things. Recently I had the task of calling the doctors to schedule Noah's surgery. Actually, the audiology team and Neurologist had been asking me to schedule this since about March, but the task of coordinating  an ABR (hearing test), Pressure Equalizer Tubes re-insertion, spinal tap and MRI was too stressful to even think about let alone do! Mom of the year, I know, but the thought of calling all of those doctors and trying to find a day which works for all of them so that we only have to do anesthesiology once sounded harder than ... well, anything! So one shabbos I prayed "Dear G-d, please help me schedule this surgery which Noah needs..."  The following Monday morning I get a call from Dr. Chans scheduler. She is only the scheduler for the PE tubes. She tells me we should get those scheduled, I told her for insurance purposes I would like to wait until July 1 and she says, "great, I will coordinate with the other doctors and call you back with a date!" I almost fell out of my chair. Was this a coincidence or a prayer answered? I'm going with the latter. Thanks G-d, that was easy. 

After we got Noah's diagnosis of Leukodystrophy, the next step was to await a call from the metabolic specialists to help us narrow down the diagnosis. I couldn't wait. I was grieving and needed answers. I called the metabolic neurology office at Children's hospital and the scheduler said she couldn't help me until she got the referral from the neurologist. Frustrated, I concede. 

A few hours later she calls me back and offers the date of August 5th. I was super excited. I called our pediatrician who was shocked we got in so fast and she recommended we get the bloodwork started ASAP so that the labs would be back in time for the appointment. The appointment was more than TWO weeks away, but we ran into the lab first chance they could take us. 

I didn't realize when I made the appointment with the metabolic team that it was scheduled on Tisha B'av. For those of you who do not know what this is: From Wikipedia: Tisha B'Av  (lit. "the ninth of Av") is an annual fast day in Judaism which commemorates the destruction of the First and Second Temples in Jerusalem and the subsequent exile of the Jews from the Land of Israel. The day also commemorates other tragedies which occurred on the same day, including the Roman massacre of over 100,000 Jews at Betar in 132 CE. Instituted by the rabbis of 2nd-century present-day Israel, Tisha B'Av is regarded as the saddest day in the Jewish calendar and a day which is destined for tragedy.

Let me just repeat that last sentence: Tisha B'Av is regarded as the saddest day in the Jewish calendar and a day which is destined for tragedy.

Now, I have always been aware of this commemoration, but never was aware of its date (which changes each year on the secular calendar to correspond with he 9th day of Av on the Hebrew calendar), and had never participated in the ritual fast. So naturally I did not notice or try to change his appointment. I got a call last week from the metabolic scheduler and she said she had to push our appointment back to be sure they had the results from Noah's last blood draw. I was so upset when she called, I even tried to plead for them to keep the appointment so we could talk. The more time we wait, the more I feel like there is something we could be doing which we're not. She insisted we move it back, but allowed me to talk with the doctor to ask some questions. 

I went into my calendar on my phone to change the date from the 5th to the 19th of August and realize that the original appointment would have fallen on Tisha B'av. Once again: Tisha B'Av is regarded as the saddest day in the Jewish calendar and a day which is destined for tragedy.

This year, I fasted. I fasted from sundown on the 4th to sundown on the 5th to not only commemorate the tragedies of the past, but to thank G-d for the miracles of now and ask for one more. I prayed on that day that I didn't receive a call from the doctor on Tisha B'av. 

On August 6th (AKA Ariel's birthday), I received a call from the doctor with good news. The proxisomal disorder they were testing for was negative!!! 

Was this a coincidence or a prayer answered? I'm going with the latter. 

Noah and I pray every morning and every night for his healing and a long and happy life. 

I can't promise I will never eat bacon again or that I will ever be shomer shabbos, but I can say, I am a believer and I am full of hope and have a newly energized sense of faith. 

מוֹדֶה אֲנִי לְפָנֶיךָ מֶלֶךְ חַי וְקַיָּם, שֶׁהֶחֱזַרְתָּ בִּי נִשְׁמָתִי בְּחֶמְלָה. רַבָּה אֱמוּנָתֶך

I offer thanks to You, living and eternal King, for You have mercifully restored my soul within me; Your faithfulness is great.

Noah's new diet and some good news!

My grieving period following hearing the "bad news" about Noah and his diagnosis of Leukodystrophy, in its worst form lasted about 4 days. One morning I was in my car pulled over in the park by our house crying and trying to call psychiatrists hoping for a miracle pill to erase the way I was feeling, and was doing what I did best (or worst) in those days, googling ... I came across a site which talked about diet and it's effect on the brain. All the sudden it clicked in my brain, I can't change anything if all I do is continue to cry and sleep. I need to fight this disease and we have to win!! 

I learned a lot from my aunt Randy when she was diagnosed with breast cancer in 2001 and her subsequent treatment and the diet she still follows strictly to this day. I started there ... 

Step 1; Increase Noah's fatty acid intake. Leukodystrophy is abnormal white matter, which in Noah's case means his Myelin was disappearing. The Myelin is the fatty tissue which protects the nerves. So without it would be similar to stripping the rubber off of your iphone charger and then trying to charge your phone. I googled "omega 3's for toddlers" and some fish oil drops for babies came up and could be purchased at a vitamin shoppe only blocks away. I wiped my tears and headed there. I purchased a couple bottles of the fish oil. Next stop, whole foods (whole paycheck!) Jason and I stocked up on all things for brain health including but not limited to the following: 

Flax seeds

Walnuts

Mung, black, and lentil beans

Chia seeds

Almond and peanut butter

Flax milk

Almond milk

Cow milk w/dha

Yogurt

Honey 

Avocados, sweet potatoes, celery, kale

Strawberries, blueberries and bananas

Acai berry

Edamame

Wheat germ

Kefir

Curry

The good news is many of these things have been a part of Noah's diet forever, but we had many new items. 

Noah's teacher, Chaya, had also purchased some things for Noah since he likely wouldn't be able to eat the daily snacks anymore. She got him a dha milk, flax seeds, organic apple sauce and chopped spinach. We love her! 

Step 2; No more refined sugars for Noah

Sugar starves your brain and fuels inflammation. Refined sugar is a fast-absorbing carbohydrate and is one of the strongest irritants of the nervous system; it deteriorates and eventually produces a host of conditions. On top of that there are a million and one reasons why refined sugar is poison to the body, but I will try not to be preachy here. ;) 

 

Bottom Line: The only organ that can metabolize fructose is the liver. When we eat a lot of fructose, many things in the body start to go wrong... 

Step 3; return ALL of the dairy which we just purchased

I read this the night after we made our whole foods run: 

Food that damages the myelin and nervous system functions:

Harmful or saturated fats: avoid at all costs as fried sausages, maximally reduce red meat, cow's milk and derivatives.

So, I texted Noah's teacher immediately. I think it was after 11pm ... Sorry, Chaya! "Stop giving Noah Milk!" Everything right now seems like an emergency. I don't want to cause any more damage to his fragile little still-growing brain. The next day I returned all of the milk products that we had in our house (within reason.) I used that "credit" to replace his milk, yogurt, butter, etc. with:

Vegan butter 

Goat and sheep yogurt (the soy, almond and coconut yogurts have sugar! Oy) 

Vegan Mac and cheese

More almond and flax milk (unsweetened)

Coconut milk (unsweetened)

More fruits 

Step 4; Return all of the days previous goat, sheep and fish oil products. Oyyy

I got a call from the scheduler for our metabolic specialist and she said she needed to change our much anticipated appointment from the 5th of August to the 19th because they weren't going to get the bloodwork back in time. I was so upset. I told her I needed help with his diet and basically just wanted answers. She put me right through to the metabolic neurologist. This is pretty hard to do, just chat with your specialist on a whim. I was pretty excited. He told me that what they think Noah has is a proxisomal disorder and that was the blood test they were waiting on and that it was taking longer than expected. I told him about our recent diet changes, no dairy, no refined sugar, side of omega 3's and other short chain fatty acids. He told me it's all fine and in fact, proxisomal disorder reacts badly to phytanic acids. He said some patients respond to the removal of dairy from the diet for that reason. I was thrilled! We did some actual useful googling! He was cautious though, saying that it doesn't always work and we don't know if he has that disorder. 

I went home to research the phytanic acids only to find they're in goat, sheep, cow, and FATTY FISH!!! So the unopened  fish oils, goat and sheep yogurts, kefir, milk all went back to the store. I feel bad because they have to destroy them, but better that than "destroy" my little love! 

So today I receive a call from the metabolic specialist and he says they got the blood work back and Noah does NOT have peroxisomal disorder! Finally, a glimmer of hope in all of this and some actual information! I was so happy I almost cried! I told him that it was nice to get some happy news and he said he called as soon as the results came to his desk! I have never met this guy, but I think I love him! 

 Prayer to recite upon -Hearing Good News:

Barukh atah Adonai Eloheinu melekh ha'olam hatov v'ha'meitiv. Blessed are You, Lord our God, Ruler of the Universe, who is good and causes good.

We're celebrating tonight with a piece of wild salmon!!