Lorenzo's Oil

I was going to write about this later, but after hearing the news today about the death of Lorenzo Odone, I felt I needed to write this now. Below is the story from today's news.

WASHINGTON (AP) -- The man whose parents' battle to save him from a nerve disease was told in the movie "Lorenzo's Oil" died Friday at his home in Virginia, having lived more than 20 years longer than doctors predicted.
Lorenzo Odone, who doctors said would die in childhood, died one day after his 30th birthday, said his father, Augusto Odone.
Lorenzo Odone had come down with aspiration pneumonia recently after getting food stuck in his lungs, his father said. He began bleeding heavily, and before an ambulance reached their home, his son was dead, Odone said.
"He could not see or communicate, but he was still with us," Odone said Friday. "He did not suffer. ... That's the important thing."
Odone was found at age 6 to have adrenoleukodystrophy, or ALD. His doctors told his parents that the disease, brought about by a genetic mutation that causes the neurological system to break down, would lead to death in two years.
The disease leads to the accumulation of substances called very long chain fatty acids in cells, damaging the material that coats nerve fibers in the brain.
Susan Sarandon and Nick Nolte starred as Michaela and Augusto Odone in 1992's "Lorenzo's Oil," which recounted their efforts to formulate the oil they said helped their son fight the neurological disease, despite lacking scientific backgrounds.
Sarandon earned an Academy Award nomination for her performance.
A study published in 2005, based on research with 84 boys, showed that a treatment made from olive and rapeseed oils -- patented by Augusto Odone -- can prevent onset of the disease's symptoms for most boys who receive an ALD diagnosis.
Odone plans to take his son's ashes to New York to mix them with those of his wife, who died in 2000. Then, Odone said, he will sell his home in Fairfax, Virginia, and move back to his native Italy.
Odone also plans to write a book memorializing his son, "to tell the story of Lorenzo as a way to make him live on."

A few months after Dylan was born, I rented the movie "Lorenzo's Oil" on DVD. I felt like I needed to see what Melissa and I were going through. The movie was excellent and had me in tears throughout most of it. For those of you who have never seen it and are living with a disabled child, this movie is a must see.

One of the things the movie pushed me to do was to seek out other families who are dealing with a similar situation to ours, just as the Adone's did. Melissa and I became active in the Emanuel Syndrome Yahoo Forum Group. Melissa got involved with many different organizations dealing with children's issues and I joined a local fathers support group.

As horrifying as what happened to Lorenzo was, I was somewhat comforted that the family had managed to survive it and they never gave up on their child and did everything possible to save his life. The ending where they showed how many children's lives had been saved by this family and how they would continue to look for a cure for their sons condition inspired and uplifted me.

Despite the overwhelming odds against them, I believed that this family could perform a miracle and bring their son back to what he used to be.

When I read that he had died today and that he had not been cured, it nearly brought me to tears. As part of that never ending cycle of grief, this news put me into a joint denial and depression stage for a few hours. If this amazing family couldn't save their son, how could we?

The depression and denial goes away with the realization that I was not going to "save" my son. I was going to raise him. There was no cure. There was just the reality, and we would have to face the reality to the best of our abilities.

For more information on what Lorenzo Odone was facing please see: http://www.myelin.org/

R.I.P. Lorenzo Odone. You were an inspiration to millions of people.

Denial

Before I had any children, I used to think that the worst possible thing that could ever happen to me was to have a disabled child. I could simply not imagine what it was like to have to care for a child that could never grow up to be an independent adult. The thought that I would have to change my adult child's diaper and feed my adult child terrified me.

That is one of the reasons that Melissa and I were so careful during her pregnancies. We both wanted to be sure that we had healthy children.

When Dylan was born I was clearly in denial. I refused to accept the diagnosis. I looked into every possibility. I found everything I could on possible cures. I believed that the diagnosis was wrong. There must have been an error in the testing. The lab screwed it up. The geneticist was wrong. The doctors were wrong. Everyone was wrong. This couldn't be happening.

Accepting the truth simply terrified me and I was simply unprepared to face the reality of the future that my family would face. It took me some time at the beginning but with the truth in your face constantly the denial eventually goes away.

But the denial doesn't disappear for good. Every once in a blue moon when he shows a little bit of progress, the denial will hit me again.

Dylan will take a few steps in his walker. "Maybe he will walk."

Dylan babbles a a syllable. "Maybe he will talk."

You hear about how much worse off another child with Emanuel Syndrome is. "Maybe he will be different than all of the other Emanuel Syndrome children."

Then you get those unrelated to anything moments of denial. "Melissa and I have high IQ's. That has got to make a difference right?"

Fortunately for my mental health, these moments of denial usually are momentary ones.

Once denial goes away, it is often followed by...

The Never Ending Cycle of Grief

In my psych 101 class back in college I learned about the 5 stages of grieving.


1. Denial "It can't be happening."

2. Anger "Why me? It's not fair."

3. Bargaining "I'll do anything to make this better."

4. Sadness "I'm so sad, why bother with anything?"

5. Acceptance "It's going to be OK."


You learn that people don't go through all of them when they experience a tragedy but they do go through some of them with the eventual hopeful goal to be able to achieve acceptance.

With the death of a loved one it may take time but most people do eventually achieve acceptance.

With the birth of a disabled child, you do achieve acceptance as well, but the difference is that it doesn't end there. The loss confronts you on a daily basis. So just when you think you have finally accepted the situation, something happens that gets the whole mourning cycle going again.

The cycle began with...

Guilt

It was Melissa's DNA. Not mine.

The Geneticist told us that Melissa had a balanced translocation. Her DNA was out of order but all the pieces were still there. It has not and would not affect her life. It's only effect was to make her much more likely to have a child with an unbalanced translocation. That is exactly what happened to Dylan.

"Thank god its not me". That was the the first thought that ran through my mind. I had been worried that somehow my DNA had done this to Dylan. I had been having speculative feelings of guilt on the off chance that it was from me.

Immediately following this relief were feelings of guilt, for being grateful not to have caused this.
I could only imagine how Melissa must be feeling having heard Dylan's diagnosis and the news that it was her DNA. She later told me about the intense feelings of guilt that she felt.

My mind began to race as to what I should be thinking and feeling. Should I blame her, yell at her, lash out at her? It took me less than a second to banish those thoughts from my mind. Those thoughts were idiotic and pointless. What happened to Dylan was not her fault. She should not feel guilt over this. It was just a random occurrence that just happened to us. No different than if we had won the lottery. The fact that us having a child like Dylan was a 1 in 15 million chance made me compare it to winning the reverse lottery.

I can only imagine how many marriages have fallen apart when a couple faces this situation. You hear the stories about the mother who completely obsesses about the disabled child and ignores the rest of the world, including her husband. You hear the stories about the fathers who cannot deal with the situation at home and therefore throw themselves into their jobs and spend less and less time at home eventually getting to the point where they become very distant from their family. In both cases, the stories usually end in divorce.

I was determined that would never happen to us. I would not abandon my family. Melissa would not turn into an obsessed parent who ignored everything else in life. We were great together. We could survive this. We would survive this. We have survived this...

The Answer

A few weeks after Dylan came home we visited the Institute of Basic Research (IBR) and met with a very nice Geneticist and Genetics Counselor. They were incredibly professional and compassionate and listened to all of our concerns and tried to answer our many questions as best as they could. They asked for an entire biological family history from my wife and I. They asked for any history of genetic disability in our families. I had a distant cousin with Aspergers' Syndrome and Melissa had an aunt who had mysteriously died at 3 years of age in the late 1940's (more on this relative in a future post).

They took Dylan's blood as well as our own. They were going to perform a Fluorescence In Situ Hybridization exam (abbreviated as FISH test). They were going to examine his chromosomal structure to see if there were any possible defects.

It would take quite few days before we got an answer as to what could be wrong with Dylan. In the meanwhile, my entire family was busy looking online for a possible answer. Nothing that we found really matched what Dylan had.

There were some close ones like DiGeorge Syndrome which held out a possibility of a semi-normal life and then there were others like Spinal Muscular Atrophy (SMA) which would have led to a horrible death within a few years. When I read up on SMA, there were some similarities to what Dylan had and the thought of that happening to him terrified me. I broke down and cried for a few minutes after I finished reading about SMA. Thankfully I was alone when that happened.

About ten days after they took our blood IBR called us to come back in. I remember sitting there happy to know that we were finally going to get an answer to this mystery. Then the Genetics Counselor and Geneticist walked in and right away I knew it was not going to be good news.

They were trying to be stoic and professional, but they were human beings and they couldn't keep from having such looks of pity for us on their faces.

They told us he had Emanuel Syndrome. Obviously neither Melissa nor I had ever heard of it. In all the dozens of hours of online research, I had never come across any mention of Emanuel Syndrome (otherwise known as a 22q11 partial translocation). They told us that genetically his 11th strand of his 22nd chromosome had been damaged and parts of it had broken off to form a 47th chromosome.

They told us his outlook was bleak, he would in all likely hood never walk or talk. He would be classified as either severely or profoundly mentally retarded. I found out later that this would put his possible maximum IQ at 34. He showed us a rare syndromes textbook that had some information on Emanuel Syndrome including photographs. Unfortunately, the description of the syndrome mirrored much of what Dylan had. This fit what he had much more than anything else that I had found online.

The child pictured had some definite facial similarities to Dylan. The adult pictured there looked horrible. Was the geneticist telling me that my son would look like that when her grew up?

I was sitting there with a blank look on my face. My wife had tears in her eyes. What they were telling us was simply not sinking in for me. This couldn't possibly be happening to me, to us, to my family.

I asked them if there were any other Emanuel Syndrome kids who had surpassed the diagnosis, who could walk and talk?

The Geneticist told us no, from all of his research all of them were severely or profoundly disabled. I then sat there in stunned silence.

He then told us that Emanuel Syndrome was inherited from a parent.

Either mine or Melissa's DNA had done this to Dylan. Which of us was it....

The Good and the Bad

The doctors continued to run tests on Dylan. The more they looked at him, the more they found.

He had an atrial septal defect in his heart. This is also referred to as a hole in his heart. They told us that it was a small hole and they would not recommend surgery as it might close up on its own later in life (it didn't).

After they gave him an MRI they told us that he had hydrocephalus. This is also referred to as water on the brain. They told us that it could be nothing, but he would need follow up tests to make sure that the level of hydrocephalus did not increase. For now there was nothing that should be done for it.

The prognosis for his future was just getting worse and worse.

We really needed to get some good news.

We finally started to get some of it.

Dylan's jaundice was going away after a few days under the Bili lights.

Though his kidneys were definitely going to be of great concern to us down the road, at this moment they had enough functionality at about 30-50% of normal that dialysis or a transplant were not immediately necessary.

Dylan was taking in formula well through the feeding tube in his nose and had regained some strength so the doctor's decided to take out the feeding tube and try to bottle feed him to see if he could take to it. It was very slow going for him, but he managed to take in a few ounces at a time.

Based upon his successful eating, the doctors told us that if he could continue to successfully bottle feed we could take him home in a few days.

With this mix of good news and bad news, Melissa and I wanted to know what exactly was wrong with Dylan. What was his diagnosis?

Dr. Roth, the head of pediatrics began researching it, while Melissa and I put on our junior medical investigator hats and went to work on the Internet to find a disease or syndrome that fit in with Dylan's symptoms.

Neither Dr. Roth nor we were able to find something that matched Dylan's issues. Dr. Roth asked for a genetics test of Dylan. Unfortunately, there were no geneticists on staff at the hospital, so we made an appointment to visit the Institute of Basic Research (IBR) with Dylan when he would be discharged for a genetics test.

Finally after nearly a week in the hospital, the doctors told us that despite Dylan's many issues, he was healthy enough to go home. I was ecstatic.

I was finally taking my son home...

It Finally Hits Me

I like to think of myself as a guy's guy. I was always raised with the belief that men don't cry, women cry. Men have to be stoic and in control of their feelings.

Up until this point, I had only cried once in front of my wife. That occurred right after my mother called to tell me that my grandfather, Ilya (a man who had been like a surrogate father to me), had just died. He had been sick for a long time and we all expected it to happen, but it still hit me like a ton of bricks. This happened a year before Dylan's birth. As per Jewish tradition, Dylan was named for Ilya.

Dylan had been in the NICU for a few days. I was sitting in the hospital cafeteria with my wife, taking a break from being in the NICU with Dylan. We were talking about everything the doctors were telling us and what Dylan's latest prognosis was.

That was when it finally hit me.

Until this point I had believed that in the end everything would be all right. I truly thought that that doctors would fix any issues that Dylan had and we could take him home and he would grow up to be a happy healthy normal child.

I just started telling my wife that we needed to face reality. We could no longer live in this fantasy world that everything was going to be eventually okay. We needed to be prepared for a reality that our son could very well die, he may require a kidney transplant to survive, and that I was going to give him my kidney if that is what it took. We also needed to be prepared for the very real possibility that if Dylan survived all that, he was very likely to be deaf.

As I finished telling her this, I just started uncontrollably sobbing. It embarrassed me. I covered my face with my hands as I didn't want anyone to see me like this. I tried to stop, but I couldn't. All the bad news of the last few days, all the tension, all the anguish and worry, I just couldn't keep it bottled up any longer. I just let it out in this sobbing cry that lasted for what felt like an eternity but in reality was probably more like a minute.

After it was over, I have to admit I felt better letting it out. My wife was amazing. She sat there and cried with me. She understood how difficult it must have been for me to have to let out my emotions like that in front of her.

We held hands silently for a few minutes and then we went back upstairs to the NICU to be with Dylan.

We really needed to hear some positive news because up until this point all we had heard was bad.

What came next was a mix of both...

NICU & More Bad News

We were a few hours away from going home. Melissa believed that Dylan was not thriving as he should be. I was still in complete denial and tried to convince her that he was fine and we should take him home as soon as possible. Thank God Melissa did not listen to me then. She asked one of the attending pediatricians to take a look at him.

The attending doctor took a look at Dylan and did not like what she saw. She saw that he was too floppy for a newborn. She also noticed that he was starting to get jaundiced. She told us that she wanted to take Dylan to the NICU (Neo-Natal Intensive Care Unit). We followed them to the NICU and watched as Dylan was placed in an incubator. They right away began testing him and the bad news started coming at us.

He was jaundiced so they placed him under the blue lights to improve that.

He was hypotonic, which means that his muscles were too loose and weak. They tested him for this by placing him on his stomach. A normal healthy newborn will turn their head left or right so they can breath. Dylan just lay there even though he couldn't breath that way.

Over the next few days, the news kept coming at us.

He was not breast feeding, so we tried bottle feeding. We were ecstatic if he could manage an ounce of formula at a time. A normal healthy baby would be drinking at least 4 ounces. It got to the point that the doctors were so concerned over his inability to eat that they inserted a feeding tube through his nose into his stomach that they could insert formula through.

If the attending doctor had not taken Dylan to the NICU and instead we had taken him home, we very well could have starved him to death as we tried to continue to fruitlessly breastfeed him.

They pointed out to us that he didn't just have tags on his ears, he also had tags in his ear canal as well as pits on his ears.

Finally, the worst news so far hit us. He had extremely small kidneys. They were not capable of working at the level that his body required. They figured this out by doing a test of his creatanine level. If your numbers are too high, it means that your kidneys are not properly filtering out the impurities in your blood stream.

We were looking at the distinct possibility that my son who was not even a week old could be in kidney failure and he may require a kidney transplant or he could die....

Failing His First Test and Breastfeeding

Dylan was taken to the maternity floor and placed in the general ward, since Prince Charming MD had declared that he was fine.

Melissa soon joined him there. We had previously gone through the procedure of birth and the hospital stay with our first son, Ethan, so everything seemed normal. It made me feel better to see Dylan in the maternity ward with all those other newborn kids. After all they would only place him there if he was fine.

The following morning the next shock hit. As is standard, all newborn babies get a hearing test. Dylan had failed his hearing test in one ear. The audio technician told us that it could be nothing, plenty of kids fail the test on their first try and then pass when they get retested. It could be fluid buildup, a false negative, or any number of reasons to not pass the test. She told us that he would be retested the next day.

In my mind, a small little panicky voice started to say that this could be more than just a false negative. Combine the ear tags and the failure of the hearing test and there could be something seriously wrong here. I just had no idea how seriously wrong it was going to be.

Melissa then tried to breastfeed Dylan. Our older son, Ethan had been very successfully breastfed until he was 6 months old and we both hoped that Melissa could do the same for Ethan. (You save a ton of money on formula). For those of you who don't know, there really is no way to tell if breastfeeding is successful other than weighing the baby after each feeding. Dylan had some difficulties latching onto the nipple but he could occasionally manage it. We knew that babies can take few days to successfully latch onto a nipple, so his first 2 days of difficulty didn't worry us too much at that point. Melissa would continue to try for him to latch on for the next few days with very little success. She was beginning to get a little frustrated.

Dylan once again had his hearing tested and once again he failed the test. The tech once again told us that it didn't mean anything and that we should have him retested in a few weeks to get a definitive answer. That panicky little voice inside me got a little more panicky.

As is standard now for a natural birth, 48 hours later, Melissa and Dylan were going to be released and sent home. I hate hospitals, so this was an incredible relief for me to be able to take them home.

Little did I realize that this could have led to my sons death....

Dylan's Birth

When Dylan emerged, he had these very large tags on his ears. I had never before seen that on a child.


He was crying, which was a good sign. After all a healthy baby should cry right?


The pediatric nurse took Dylan and started working on him. I asked her what the ear tags were, and she did not know. She asked me if I wanted a doctor to come down to take a look at him.


Of course I do, I responded. She called someone and five minutes later staggered in some 1st or 2nd year resident looking like he just woke up. He took one look at Dylan and yelled at the nurse, "This is what you called me in here for?".


It seems Prince Charming MD hadn't yet gotten his beauty rest. I wanted to punch him in the face right then and there. This was my son he was talking about. Something wasn't right, so damn right we were going to wake your ass up and make you do your job.


He did a perfunctory exam and pronounced that nothing was wrong with him and the resident shuffled off to go back to sleep.


This was my first lesson in the fact that medical residents know absolutely nothing and you should never listen to them. This is when I finally began to learn something, residents are not real doctors, they are still students in the apprenticeship phase of their education. Relying on a resident is like hiring a law student to defend you on a murder conviction. You have to be nuts to do that.


The thoughts running through my mind at this point were that, OK, Dylan had a weird ear thing but that's all it was. He was perfectly normal otherwise. Just like you hear about kids born with tails or sixth fingers. It was just one of those weird things that would never really affect his life. Some plastic surgery when he got older and he would be fine just like any other kid.


I had no idea what was coming.....

Introduction

My name is Oleg Rabinovich. I'm a 32 year old lawyer. I'm very happily married to Melissa, a television news executive producer. We have been together for over 10 years. We have 3 kids:


Ethan: 5 years old

Dylan: 2 years old

Ava: 1 years old


Ethan and Ava are happy smart kids who I have very high hopes for and they are my pride and joy.

The above photo was taken during Ava's first birthday.

This blog will not really be focusing on Melissa, Ethan, or Ava though I will occasionally talk about them.


The purpose of this blog is for me to discuss what it is like being the father of a severely disabled child.


Dylan was born December 9, 2005. He has been diagnosed with Emanuel Syndrome, otherwise known as an 11/22 Unbalanced Translocation. That second one is a mouthful so I will stick to using Emanuel Syndrome.


When Melissa got pregnant for the second time, we were both so excited. She wanted a girl, I wanted a second boy. She did everything that a pregnant woman is supposed to do. She took her prenatal vitamins, she didn't eat sushi, or drink caffeine or alcohol. All the medical checkups went great. It was a great pregnancy.


Then on December 9, she went into labor and had a very good natural birth. Dylan came out and right away we knew something was very wrong.......