Danilo's Page

Yay! The DVD is done and ready to send.

I spent hours trying to make that CD for the Chicago people today. The files are too big. We are trying exporting it in a different format and if that doesn't work, we'll try burning a DVD tomorrow. Man ... remind me to use simple technology next time....

I think I misunderstood Dr. Niparko about one nuance. I thought "ragged red fibers" referred to the appearance of Danilo's mitochondria. However, after web surfing, I see that "ragged red fibers" refers to his muscle tissue, not to the mitochondria. Just thought I'd clarify that point.

My brain, that is. I have a lot to tell, but there's too much going on at the moment and I'm feeling a little stressed, but that will pass. I'll try to write it out over the weekend.

The IEP went fine. I learned about 20 new acronyms!

Upcoming appointments:
CCS PT/OT assessment on 10/28
Dr. Niparko on 10/30
PT on Halloweenie

Liz Tate at the OMS center in Illinois said she's seen 100 cases of OMS this year. I had been somewhat impressed that she specifically asked if Danilo drooled and had speech problems which I guess is typical of OMS patients. I brought up this exchange with Niparko and she said some of the mitochondrial diseases have these symptoms also.

Niparko wants me and Oge to follow up with Dr. Wilcox, the guy that doesn't return our phone calls. He's supposed to be explaining stuff to us. She suggested getting Dr. Figg (spelling?) to help us get an appointment with Wilcox.

Niparko also thinks MDA will be of help once it kicks in. [Oge, should I call the Muscular Dystrophy Association Santa Monica office and see how the application is coming? I understand from Niparko that she gave you the required letter]

We're still waiting for the results of Danilo's in depth mitochondrial tests. The initial results were that he has "clumped" mitochondria with "ragged red fibers" which Dr. Niparko said indicated Mitochondrial Myopathy. However, after hearing the stories of other parents of kids with mito disease, Oge noticed that none of the stories sounded like Danilo. Margaret did a little research and thought that Danilo's story most resembled the case histories of kids with Opsoclonus Myoclonus. (I agree)

Last Wednesday, I spoke with Elizabeth Tate, a nurse practitioner who does research with Dr. Michael Pranzatelli on Opsoclonus Myoclonus. They work at the

National Pediatric Myoclonus Center,
SIU School of Medicine,
Dept. of Neurology, Div. of Pediatric Neurology
Springfield, IL 62794-9643
office 217-545-7635
www.OMSUSA.org

I had described the onset of Danilo's illness and continuing symptoms in an email. Ms. Tate asked some follow up questions. She asked about drooling, speech problems (symptoms I hadn't mentioned in the email, but which Danilo has). She also asked if his symptoms get worse when he gets a cold. (Oge had said they do)

You can read about OMS on their website, but basically she said its an autoimmune disease. The immune system gets revved up to attack a neuroblastoma or virus and it stays revved up. Then it attacks the cerebellum. She said 50% of the time with OMS a neuroblastoma is never found.

"Opsoclonus" is the dancing eyes that Danilo definitely had back around September 2002. "Myoclonus" means jerky movements. I said Danilo had Opsoclonus but it stopped. She said that often happens.

Tate ran the description of Danilo's mitochondria past the doctor there and he was "not impressed." So, these folks don't think the diagnosis of mitochondrial disease is conclusive at this point.

Tate says they do see kids suspected of having Opsoclonus Myoclonus and sometimes it turns out they have mitochondrial disease. (So, it's not like they think every case of ataxia is OMS)

After our discussion, Ms. Tate felt there was a chance Danilo has OMS. She is having us videotape Danilo doing certain tasks and movements to have a look. She says if Danilo has Opsoclonus Myoclonus and is not being treated he is losing IQ points.

They have some particular methods for diagnosing OMS. For the blood work they look for paraneoplastic antibodies. They also do something called a neuron-specific enolase test. They recommed a catscan of the torso (I think Danilo had an MRI of the torso) and some test called MIBG (something involving isotopes).

When they do a spinal tap, they look at it within 48 hours with a laser light for subtypes of cells. Apparently the amount of T's and B's help them determine what drugs to treat with. They use steroids ACTH or pregnazone as immunosuppressants. If a kid has OMS, the immunosuppressants may arrest the symptoms. It's a long treatment with multiple drugs. I asked if the treatment was experimental and she said it's not experimental. I asked if it was FDA approved and she said it was. With OMS, she said the kid has to avoid germs. She says kids with OMS should NOT get immunizations.

I asked Tate about the doctor at Children's Hospital in L.A., Wendy Mitchell, who specializes in OMS according to one web page. Apparently Mitchell is in a different camp than Pranzatelli. Tate indicated Mitchell doesn't do immunophenotyping (whatever that is).

Tate mentioned some kids with OMS get OCD (Obsessive Compulsive Disorder).

Today I wrote a memo to Danilo's neurologist Dr. Niparko asking about OMS and the conclusiveness of the mitochondrial analysis. (I also asked about an offer by a pregnant friend to store an infant's umbilical cord blood for Danilo in case there are stem cell treatments for him, but that's a story for another day)

Niparko was in the office and took quite a few minutes to talk to me about it. She said the initial mitochondrial analysis shows definite mitochondrial disease. She says extensive testing was done to look for a neuroblastoma and they didn't find anything. She says he doesn't have myoclonus.

I was not really sure I knew the difference between myoclonus and ataxia. She demonstrated what jerky myoclonus movements would look like. I guess they look more pronounced and spontaneous.
I asked about getting Dr. Mitchell to look at him. Apparently Niparko trained under Wendy Mitchell and she said there's no way Mitchell will look for OMS in Danilo if it looks like mitochondrial disease is there.

Niparko said she had a kid with OMS and they looked and looked for a neuroblastoma. Mitchell finally ended up doing "microscans" and found a tiny tumor between the kids vertebrae. But I think that kid had more apparent jerky movements. The jerkiness is caused by elevated adrenaline (? I think) in the blood from a neuroblastoma.

Niparko called the pathologist while I was there to see if the rest of the mitochondrial testing was done yet. It wasn't in, but she expects it any day. She said I should bug her every 7 days. [Note to Oge, she said you should make an appointment with her next Friday or the Friday after that in anticipation of the results coming in]

I guess we'll see soon what is up with the mitochondria. Apropos of nothing, I asked if mitochondria can get messed up by something outside of the cell rather than some genetic problem (or whatever) within the cell. She said some toxins can do it.

Random thoughts - If the OMS people think you can have OMS even after the Opsoclonus symptom goes away, can you have it even if the Myoclonus symptom goes away? I wasn't around when Danilo was first sick. Neither was Niparko. Did he ever have Myoclonus?

If a doctor imagined that he saw Retinitis Pigmentosa in Danilo's eye, can another doctor be imagining abnormal mitochondria?

Can a healthy person have clumped, ragged looking mitochondria like Danilo's? I asked Niparko this and she said not too many healthy people have had their mitochondria looked at. I'm not satisfied with this answer.

It's my understanding that Tate seemed to believe the neuroblastoma could be out of Danilo's system already but his immune system is still revved up with OMS. If this is a valid possibility, could a neuroblastoma or virus that triggered the immune system have been gone by the time Niparko did the tests on Danilo? Danilo had already been sick a few months by the time Niparko hospitalized him, right?

Upcoming Appointments:
10/17 - ophthalmologist and physical therapy
10/23 - IEP meeting
10/28 - CCS assessment for PT and OT

I talked to Hahnee, the PT at Childrens, yesterday. She will soon be ordering a walker for Danilo. The braces should be ready in a couple of weeks and she made sure they are the right kind. We still have about 7 weeks worth of appointments left before the original 24 insurance approved runs out. She is keeping track, yay! I'm glad that someone out there is.

Today I visited the collaborative pre-school at Shenandoah St. School. There are two tiny classes of pre-school kids. Actually, the rooms are quite large, but the number of kids is very small. One class had seven and the other had eight. One room had carpeting so I'll ask for that one. None of the kids in them at this point are special needs kids. Barbara, the lady in charge of Danilo's case, said the IEP kids will trickle in - like Danilo. The school is near our old apartment on Shenandoah. The teachers seemed really nice and the kids were actually learning to read a little bit. The classes are 2.5 hours 4 days a week and Danilo would get transportation. We wouldn't be locked into this school for kindergarten. Barbara said that Danilo could possibly be allowed to go to a regular school in a regular classroom if the principle allowed it and if they could set things up for him. So I think I'll put him in Shenendoah for this year so he can ease into the school thing and see how he does with normal kids. Then I'll figure out about next year. . .

I had another CCS meeting today. For the moment, Danilo has been assigned to the Los Angeles Medical Therapy Unit (LAMTU). I went there to sign the papers and talk with them about what they provide. They do provide "free" PT and OT. I may have to pay a yearly fee though, but I'm hoping they will waive that. Actually, they are short staffed at the moment and they might be able to get him in to Childrens PT for free. Yes, he is already going to Childrens PT, but I have to pay a $10 co-payment every time and that is getting quite expensive. So I hope it works out with CCS because I really like Hahnee, his therapist at Childrens. He has an appointment to be assessed by the LAMTU therapists on 10/28. An interesting note on of the ladies brought up at this meeting today is about school transportation. LAUSD does provide transportation to and from school, but they don't allow strollers on the bus due to some liability reasons. She thought he might have to get a wheelchair and they would provide it, or get him other transportation. This is good to know for the IEP which is on 10/23. ... jeez too many dates and acronyms .

Danilo was tested for urine catacholamines and it was normal. Here is what was not normal:

TSH 0.14 (.5-5)

Urine organic levels: elevated 5 HIAA seen in carcinoid syndrome or diet of bananas, pineapples, tomatos and avocados

whatever that means ....

The tooth extraction took place without a hitch this morning. On the way home, Danilo was still groggy from the anesthesia and he thought we were flying in an airplane. After only one instance of projectile vomiting, he felt well enough to eat some scrambled eggs. I left soon after that for the appointment with the CCS Financial Advisor at Childrens Hospital. The CCS lady was helpful. She gathered all the information and it seems like I qualify, but since I make over $40,000 (not much over $40,00 mind you) they may not pay for everything. Of course, everything is only what the regular insurance won't pay for anyway. So they will pay for some of the braces and they will pay for the helmet and whatever else comes up. Maria called me when I was back at work to tell me that Danilo was really full of energy and wouldn't calm down. He was crawling around madly and demanding her to play with him. . . so everything is back to normal.

upcoming appointments:
Wed 10/7 - CCS appt. (paperwork only)
Thurs 10/8 - visit Shenandoah St. school collaborative classroom

Message: 4
Date: Thu, 02 Oct 2003 20:30:44 -0400
From: kerry.tobin@verizon.net
Subject: Our Special Children (IDEA related email)

This was sent to me from another online metabolic group, thought you
might like to read it.
******************

VERB – IT’S WHAT THEY DO

It’s a sad fact that many people believe the money spent on special
education is wasted. They say that other kids -- “normal” kids -- are
more
deserving of the funds, for they have the potential to make something of

themselves, achieve independence, and contribute to society. They ask
why
so much money is being spent to educate “tomorrow’s grocery baggers.” I

pity those people. They obviously fail to recognize that our children
begin
contributing to society from the moment they’re born – on so many
levels.
For example …

They challenge our medical professionals.
They teach our teachers.
They focus our priorities.
They develop our resourcefulness.
They lighten our loads.
They enhance our creativity.
They heighten our awareness.
They test our patience.
They strengthen our resolve.
They mitigate our selfishness.
They lift our spirits.
They inspire our loyalty.
They compound our frustration.
They amplify our generosity.
They alleviate our misgivings.
They widen our perspectives.
They accept our shortcomings.
They boost our self-esteem.
They relieve our doubts.
They reinforce our beliefs.
They evoke our compassion.
They expand our social consciousness.
They accelerate our growth.
They reveal our motives.
They accommodate our limitations.
They broaden our horizons.
They magnify our resolve.
They sharpen our wits.
They refine our sensibilities.
They shape our character.
They define our future.
The list could go on and on and on. Whereas all children do these
things at
some point and to some degree, children with disabilities constantly and

consistently push the envelope. It’s what they do – naturally. It’s
what
they give – freely.

Those who view our children as burdens to society are asleep at the
wheel.
WAKE UP! Our children are incredible assets, both on a personal and on
a
national level. They contribute continually in countless, often
immeasurable, ways.

Please tell Congress not to dismiss, disenfranchise, and disregard our
children by gutting the IDEA. We, as a nation, simply cannot afford the

repercussions. Our country is in dire need of their priceless
contributions. To weaken the IDEA by lessening accountability,
eliminating
short-term objectives, discontinuing manifestation determinations, and
imposing attorney fee caps is a grave injustice to all children.

We are the parents, grandparents, aunts, uncles, and friends of 6.5
million
kids. We need every voice to tell Congress our verbs: We remember, and
we
vote.

Debi Lewis, today’s parentvolunteer@ourchildrenleftbehind.com

Our Children Left Behind [OCLB] was created and is owned/operated by
parent
volunteers (Sandy Alperstein, Tricia & Calvin Luker, Shari Krishnan, and

Debi Lewis). Permission to forward, copy, and/or post this article is
granted provided that it is attributed to the author(s) and
www.ourchildrenleftbehind.com. For more about OCLB or to share
information, please contact parentvolunteer@ourchildrenleftbehind.com.




[This message contained attachments]

I have had contact with CCS. A doctor is looking over his case and I faxed them a couple of things that I got from the insurance, namely the helmet denial and the paper that says they only authorize 24 physical therapy sessions.

I called the neurologist's office today. Nothing new to report.

Upcoming appointments:
Tomorrow - ankle brace measurements
Monday - physical therapy
Tuesday - tooth extraction