behind the scenes - the rest of the story

2007 was quite a hard year for me - not as hard as 2005... but hard nonetheless.

Everyone knew that Mason was gone, and that I was home alone with a newborn and a preschooler... nobody knew the OTHER thing that was effecting our lives. I didn't want to write about it.... until now..... here is what happened....

Tristan was born with a small Café au Lait birthmark on his tummy. Around 3 months old I noticed another one (much larger) on his arm above his elbow. I thought it was odd, it just appearing like that. So I looked up birthmarks on line. I learned about all their names and how and when they appear. I even wrote about it on my blog. At the time I didn't think much of it, but in wikipedia there was a note that some Café au Lait marks can be associated with a genetic disorder. I ignored it and went on my way.

In the next few months I started noticing more spots. One day there would be clear skin, the next a football shaped birth mark. They were always very light, hard to see if you didn't have direct light on it. But they were there. So I went back to the computer to read about what
was going on:

Café au lait spots or cafe-au-lait spots (CAL) are pigmented birthmarks. The name café au lait is French for "coffee with milk" and refers to their light-brown color. While café au lait spots are usually not associated with any medical problems, having many (three or more) such spots is linked with neurofibromatosis.

Also, having six or more of such spots greater than 5 mm in diameter pre-pubertal or greater than 15 mm in diameter post-pubertal children is a cardinal diagnostic feature of Neurofibromatosis type I.

So then I became obsessed with counting his spots AND measuring them. At first there were only 5 and they were quite small so I figured we were in the clear. I took him to the pediatrician and he said the same thing. Feeling reassured I relaxed. Then from month 5-8 he started to get more and they got bigger. I started reading everything I could about NF1. I found myself staying up late reading web tribute pages of children who had died. I joined all the chat boards and ask all the questions I could think of.

Neurofibromatosis type 1 (NF1) is the more common disorder, affecting about 1 in 4,000 people throughout the world. NF1 is characterized by developmental changes in the nervous system, skin, bones, and other tissues. Its most distinctive features are multiple benign, soft tumors called neurofibromas and patches of skin pigmentation called café-au-lait spots.
NF1 can also affect nerves throughout the body, including in the brain and spinal cord.

At 9 months we went back to the pediatrician and he agreed with my assessment that something was definitely up and that Tristan needed to go see a specialist. By now I was reading about all the horrible things that could happen to Tristan. He could go blind, he could go deaf, get scoliosis, develop tumors all over his skin.... get cancer in said tumors... etc etc etc.

I also was obsessed with HOW this happened. NF1 is generally considered a inherited disorder, but no one in our families suffers from it. I then learned that about 50% of all diagnosed cases of NF1 are spontaneous mutations. How did this happened? I asked over and over again. I became very depressed. I mourned the life that I had imagined for Tristan. Knowing that
even the mildest case of NF still brings with it a host of problems mentally, physically and emotionally that NO kid should have to deal with... plus – I am very sensitive to bullying, both Mason and I as children were bullied/teased a lot. I mourned the fact that it will impact his ability to learn which will make school that much harder. Plus the idea that he will most likely not be able to have his own biological children, which may impact his choice of life partner.

Let me remind you that during all of this Mason was away at training and had no idea what was going on. I had no ‘real proof’ from anywhere and I didn’t want to stress him out even more while he was a way, so I kept it to myself. I tried telling my parents, but with out any official diagnoses they just wrote me off.

And to make matters worse I had to deal with our insurance company who has no network doctors that deal with this sort of thing. It was a very stressful spring and summer to say the least.

When Mason got home I told him about what was going on and by then I had an appointment with a pediatric neurologist in Dallas. He did really didn't think too much about the long term effects on Tristan, he answered " I will still love him"... like, yeah of course you will but what about HIM!!! We talked a lot about family history and genetics and finding an answer to the why and how. I came up with the theory that all the vaccinations that Mason has to get to go over seas including anthrax and small pox must have messed up his sperm somehow. He disagreed saying that other kids would be having problems too... and that there really is no proof.

I went to Dallas in August with Braden and Tristan. They wanted to look at Braden too so they could rule him out . Mason was deployed in Qatar and so my Aunt came up to help me. By the end of the meeting with the doctor she had given Tristan a diagnosis of NF1 based on his (by now) 40 spots. They both had blood drawn and head to toe exams and we were sent home.

From August - December 2007 Tristan has had a myriad of doctor visits to get a base line
on all his parts. EKGs, eye exams, kidney and liver scans, dermatology appointments etc etc

While all this was going on he then developed some small red-ish spots on his head and other parts of his body. So I looked them up and showed them to both my pediatrician (who did not know what they were) and the neurologist who declined to comment until after we saw a PEDIATRIC dermatologist.

Which is what we did early on this year. My assumption turned out to be right, they are JXGs (Juvenile Xanthogranuloma) small little moles that normally are harmless BUT: An association with neurofibromatosis type 1 (NF-1) and juvenile chronic myelogenous leukemia (JCML) has been reported. A recent retrospective review by Cambiaghi of 77 patients younger than 3 years
with NF-1 yielded 17 (22%) with JXG, but none developed JCML or other hematologic abnormalities.

So leukemia was added to the worry list. While waiting to see more doctors I was panicked so I insisted on my pediatrician doing a CBC on Tristan to make sure that he did not have JMML.

Juvenile Myelomonocytic Leukemia (JMML) is a rare form of leukemia which affects young children, generally under the age of 5. JMML affects around 4 in every million children and the average age at diagnosis is around 2 years old. Funding available for medical research and information support is limited and rare diseases are often seen as lower priority because they directly benefit fewer people. There is still much unknown about JMML and there is no internationally accepted protocol for treatment.

Finally this past March (over a whole year after I discovered his spots) we (Mason Braden Tristan and I) headed to Dallas for the third time to see a bunch of doctors again. The pediatric dermatologist, a pedi oncologist and our neurologist who was to perform an MRI (to see if the NF1 had begun to produce tumors in Tristan).

This, by far was the biggest, longest and scariest trip we had made. We face 3 long days of doctors and procedures. They say that watching someone being put under general anesthesia looks like they are falling asleep.... well, not to me it didn't. Watching Tristan's little body go limp was the freakiest thing I have witnessed in a long time. The MRI machine was a miniature version of the ones adults use... but it still seemed really big compared to my guy lying there.

The next doctor (the pediatric dermatologist) didn't have much else to say except "Yep, those are Cafe au Laits.. and JXGs... Let me see him in 6 months." I left the office crying.... I had worked for weeks with our insurance to get Tristan approved for this 'specialist' . Driven 3 hours to get there... worried and waited to see what he was going to say... all for nothing.

The pediatric oncologist visit was long and involved. They took a bajillion viles of blood from T... and the two women sucked at it... I have never heard such screaming from my son... my heart was just shattered as I held him there trying to be calm and peaceful for him...I couldn't understand why these people suck so badly at something they do EVERYDAY! The doctor was perplexed by Tristan's case. So after a lot of talking and examining, he referred us to a Geneticist, and asked us to come back in 6 months.

That was March - our 6 month mark is sometime in September. We will see the derm, the neurologist, the oncologist and the new geneticist then. I have been dragging my feet a bit to get this all taken care of. I know what lies ahead of me in getting this new doctor approved through our insurance. Lots of calls, referral letters, faxes blah blah blah.... After T's MRI came back clear I sort of relaxed a bit. It was nice not to have anything to worry about ... not for long though.

Right now it a quiet time. Both spots are reminders everyday... but they are silent reminders... Twice a month when the speech therapist comes is a reminder too. I only start to get upset and remember how different life is going to be for Tristan when people ask me about his spots.

In dealing with this, we tend to use a lot of the coping techniques and therapies that we learned about when William died. Having to go to the Dallas Children's Medical Center also reminds us how bad it could really be....

We reminded ourselves daily that although we do have some control over our lives... we don’t have total control. As my friend Annie taught me, there is no fair. Some moms do crack and their kids are fine, others do all the right things and their babies, die, get sick, are born with problems. People grieve for all different reasons, but the process is the same. So as a person I can tell myself that it is no ones fault.

There is only so much that I can do. And (as my dad says) in 100 years we will all be dead. BUT, the mother in me has a much harder time dealing with the fact that Tristan will suffer. I HAVE SUFFERED. I know I can handle it, but PLEASE don’t bring this upon my baby.... There are times I want to scream... because it is not fair. And then I look around me. The more I talk to people the more I realize that we are not so alone. I have friends with kids who have all sorts of problems from Autism to Noonans Syndrome. I tell myself that perfect health and a perfect life perfectly timed out does not exist, it is just a myth we have all been taught to believe.

When I was still in the hospital after William was born I remember saying that I wished I had just one hour, one minute one second with him alive and pink in my arms.... nothing else mattered to me. I’ve had 21 months with Tristan alive and pink and in my arms... nothing else should matter. Sometimes that reminder is all I need to get me through the day, and
other times it is much harder.


Christine said...

Hi Julia, my name is Christine and I work at an organization called Neurofibromatosis Inc. Northeast. I came across your blog via a google alert about NF, and I read your story. Thank you talking about Tristan and what you've gone through so far. My heart goes out to your family.

Have you tried contacting any NF organizations? There's an organization in Dallas called the Texas NF Foundation (www.texasnf.org) that's very good. They help families with NF in Texas in particular. There's also an organization called the Children's Tumor Foundation (www.ctf.org) that's nationwide, but they have regional branches all over the U.S. Both organizations have great literature that can help you to feel less alone, and the Texas NF Foundation has information specifically for kids.

Please consider contacting one of the two organizations for help or just a sympathetic ear, or feel free to contact me up here in Massachusetts. Good luck and best wishes.

annie said...

you won't believe this, but your post came up second in a google blog search for child genetic syndrome. yeah!

And kudos on coming out with this. I think the talking is healing, personally.

nora said...

Love you. Love T.

"There is no fair". I have to remember that one...

It wasn't until I had Owen, that I understood the kind of love that wants only good things for someone, that has ZERO expectations about the person, or the person's love returned. I love him exactly as he is. Now and forever. But I hurt watching him struggle to make it in my world.

I know exactly how you feel.

I'll take this journey with you.