The Effects of Mito on the Body

The Hunt Is Over...The Ugly Truth.

Mitochondrial diseases are fatal. The thrill of the hunt was rewarded with a death sentence for my beautiful boy last week. I have not had much time to sit and reflect on what this means for my little family. I am still spending a lot time and brain power at my new job trying to learn everything. I am trying to forget about Mito for as long as I can, maybe pretend it doesn't even exist. I mean how can something so horrible happen to families like ours? Why would God create a beautiful life and take it away so early? "Really, God please why, why him?" I find myself thinking more then I care to keep track of. 

This is a little bit of the updated addendum from the metabolic/genetic counselor/neurogenetic docs notes from Kennedy Krieger this summer. 

-Plasma amino acids and TCA intermediates were reviewed and interpreted by Dr. Kelley as follows: plasma amino acids showed elevated glutamine, alanine, and threonine, as well as low methionine. Together with the TCA profile showing high ratio of isocitrate to 2-ketoglutarate, this suggests complex I deficiency. Even though a molecular defect was not identified in mtDNA or the 101 nuclear genes tested, there is sufficient evidence of mitochondrial dysfunction that Dr. Kelley recommends treatment with L-methionine and carnitine.

-Robby's mother was found to carry the Xq28 duplication. The clinical significance of this duplication, if any, is still unknown.

These results were discussed with Robby's mother by phone. I explained that we still do not know the cause of Robby's condition. It is possible that there are a combination of factors going on (e.g. mitochondrial dysfunction plus the chromosome duplication). We do not have recommendations for further testing at this time. We can re-evaluate Robby from a diagnostic perspective at his follow-up visit next year. 

This addendum was electronically signed by: Julie Cohen, Sc.M., C.G.C. Genetic Counselor
Date: 11/09/2012 at 2:45 PM 



So there it is. The ugly truth that I was expecting the past number of years. But now that it's here I wish it would just go away. This all hurts too much.

I'll try to keep updated better. Life makes me crazy, but writing, no matter how short the entries are, makes me feel better.

Mommy Meltdown

It happened today. I had my first huge mommy meltdown at 5 p.m. tonight when I had to deal with an extremely rude case manager from Amerihealth Merciless. She hung up on me twice. Once when she told me she understood how I felt and I replied with "Oh yea? I guess you go home to a handicap son too right?!" And then I called the jerk lady back and tried to tell her how I felt about how things were going with this transition to the pediatric residential facility which we continue to get denied for. I said to her "I know my handicap child brings you no money and thats part of why you continue to deny him, but the insurance company needs to realize how seriously ill he is!" She didn't like that either. Oh well the truth hurts...a lot. My family hurts, my son hurts, my head hurts from all the spinning in circles with these denials and appeals.
I really hate MITO, AUTISM, Xq28 CHROMOSOMAL DUPLICATION, SEIZURES, SENSORY PROCESSING DISORDER AND LEUKOENCEPHALOPATHY!!
THIS IS NOT THE WAY LIFE WAS SUPPOSE TO BE...... AND IT SUCKS! BUT AS MY FATHER WOULD SAY "SUCK IT UP MARINE!"

WHICH BY THE WAY REMINDS ME...RIP DADDY, 11 YEARS HAS GONE BY SO FAST. YOU ARE SO MISSED AND LOVED! 

I have a lot of work to do here! I will get to it soon.
Please know I have been keeping up on all of you and many prayers for you and your families!
Love,
Cory Marie and kids

2012 New Year New Resolution

Hello to all my blogger friends. It has been a rough year for the Frederick-Prohaska family but we got through it. Lots of health issues for Robby and I, along with two major surgeries for myself. I pulled away from writing because honestly I was really down about where I was in my health and Robby's.

In October we received some long overdue genetic results for Robby. Through the bloodwork it has been determined that he has a duplication in his Xq28 gene, an X chromosomal abnormality that affects boys. From what I know right now if I were to have another boy he would also be affected. Any girls I would have would only inherit the duplicated gene but would not be affected.

Am I sad? YES, this news was even harder to swallow because for so long we didn't know and I was starting to accept that we might not ever know and as soon as I was starting to accept not knowing, BOOM, it hit me like a Mack truck. I always wanted to have enough boys for my own hockey line or my own little league team. I always knew I was made to be the mother of boys. Lots of them. The reality is I was made to be the mother of one special little boy for his short little life.

I have a precious girl in Madison too. Don't get me wrong, she is amazing. But one girl is enough for me, LOL! She just celebrated her 10th birthday on Jan. 29. Crazy how the time flew by. Her and I have been enjoying weekend trips to Philadelphia for Flyers games and are getting ready for the Union season to start. I just finished paying off our season tickets and we have such a blast sitting in the supporters section together. It is our mommy/Maddy time, a few hours to get away from the hospitals and nurses with Robby, and enjoy reality for a little bit each weekend.

As for me, well please just keep me in your prayers for strength. Between the kids, medical issues of my own, other family issues and throw work on top of that, I could use strength to get through the days. Would be great if I could have some sort of love life to smile about, but I'm pretty sure I will be single forever at this point.

So that is where this single mom and her two beautiful children are in 2012 at least for the moment!

I will try to update at least once a week this year. I changed the blogger background but still need to update photos and some of the sidebar info. So that's my goal for now.   :-)

Hope you and your families are well!

Madison's Peanut Butter Project

This is Madison's Peanut Butter Project for her fourth grade class!

ENJOY!!

And I will update blog later for all of my medical friends!

HE IS MY CHILD

He is my child.
He is so precious, innocent, and mild.
He was born to me.
...He has a Disability.

There are times I cannot reach him.
And I don't know what to do.
He is "hurting" - and I "hurt" too.

It is difficult for him to express what he would
like to say.
And I ask the Lord to take the pain away.

For with my child- he is going through a Phase.
And I hold on to better days.
As I Pray For Him

I Pray For Him 

copyright c Doris Washington, December 1999. all rights reserved.

surgery over went well updates coming soon!

New Year, Renewed Hope and a New Blog Design!

Well it is officially 2011!
Where do I begin?! In the last few months my life has endured drastic changes. In November, on my last post I told you how the love of my life wanted a break. Well that became an official breakup and I know it was for the better! I am so happy without his negative attitude towards life and my family. Plus I took some time to start dating again and I believe that I may have found someone special. I'm just taking my time now to get to know him :)

But the biggest changes didn't involve him, they involved my family. On Nov. 14 my sister and brother-in-love moved to Ohio. Dave accepted a new position that will allow him to be on the fast track to upper management with a very large indoor water resort. I am so happy for them with this new change but it has been tough because I cannot just pop in and visit my sister at work like I used to on my lunch breaks.

The other huge change occured 4 days after my sister moved. Our grandmother passed on and went to her heavanly home. She was a beautiful women who endured many hardships in her life I truly believe heaven is treating her much better than this earthly life did but that doesn't mean that I don't wish she was here. I miss her so much. I look exactly like my grandmother and at the funeralsome of her schoolmates came and commented that I look just like she did when she was my age. :) As the oldest grandaughter in this family I truly am glad that I have her beautiful genes!

The holidays were tough with all of these changes and there wasn't much celebrating for any of us. But we got through them and now t is 2011. Time for changes and only good ones!

Robby is doing very well! He is comin along nicely with his speech and has learned how to say Nonna! That is what we call my mom. It is Italian for grandmother. He has also learned how to sign for music. I am a very happy mother. His Autism therapist are doing an amazing job with him. He is also coming along nicely with his physical therapy and although we are still a long way from walking he is learning how to use his walker better! He recieved botox injections in October and he can now flex his big toes for the irst time in his little life! It is amazing how those injections worked! We are so blessed to have these wonderful doctors and therapists in our lives! Also his seizures are under control and we have not ha any big ones since September. I thank God everyday for these amazing special doctors and therapists! And I cannot leave out our nursing staff! They have been a true blessing as well! Donna and Barb are wonderful and we are so lucky to have them as part of our family!

Madison is doing excellant in school! I talked to her math specialist yesterday and reviewed her IEP with her teachers. She is almost reading at her grade level! We are so close to being caught up with the other kids in her class. She is also busy in her CCD classes at church and I am excited to say that I may even get to teach CCD next year!

I am well too. I am experiencing a ton of muscle spasms and pain in my back lately but I am doing well otherwise. My pain medications have been increased so I am waiting to see if it helps. Now onto the big news....I found out last year that there is a mass in my left lung. I have had 4 catscans and am going for my 5th one tomorrow. On Tuesday I meet with the heart/lung surgeon and my surgery will be in February sometime. They will remove it and biopsy it right away so that if it is cancerous they can remove lymph nodes while I am still under. I will be in the hospital for roughly 4 days and will have a chest tube. I am most scared of that chest tube. I will then be out of work for 4-5 weeks. I am not looking forward to any of this but it must come out. My surgeon is very optimistic it is not cancer but if it is he said I should not need chemo or radiation because of the size. I will know more after Tuesdays meeting with him.

I hope you like the new blog design, it is for autism awareness. Now that Robby has been diagnosed I have been doing lots of work for autism awareness. So I thought it was quite appropriate!

Please keep all of us in your prayers. We are all well but prayers help! :)

We are thinking of all of you and love to hear from you so leave comments if you want to!

Happy New Year! Here is to Renewed Hope and New Beginnings!

Three's

They say things come in three's and I guess they are right.
Where do I begin. Jayson has decided after three years it is time for a break to make sure this is the right place for him to be. He said he needs to work on himself. OK So here's how this break thing is going... NOT WELL AT ALL! I really need that loving person to be here with me now and telling me it will all be ok.  And he is not here and it is not ok. I don't want to do this thing called life without him. He is the one and I am sure of it!

Second thing... Another break... this time a hip, my grnadmother's hip. My memmy went out last Saturday with my grandfather and she fell and broke her hip. We knew for a long time that this would eventually happen. THe whole family sadly was waiting for this to happen. because now it is an absolute reality check for my grandparents that they can no longer live alone in their home. So my mother is stressed to the max and I am trying to help her do whatever she needs. But honestly I know that all she wishes for is that my father would be here to help her through this. Because exactly how I feel about Jayson is how my mother felt about my father. She loved him so much and he was her partner and they were always there for eachother. So I know that my mom is trying to be strong for her mom but really sad. Not only is memmy's hip broke but now they transferred her to a nursing home and it is an experience I wish I didn't have to see. Most of the residents have some form of dementia or alzheimers and it ie so sad. My grandmother has what they call mini strokes  and so she talks and acts as a dementia patient. It just seems to be a reality that I don't think she will ever get better. I miss my memmy they way she was. I am reliving my great-grandmothers final years now, (that was her mother) She too had these mini strokes and eventually it was one big one that sent her back to God.

So on top of all of this the third and final straw was the phone call from my sister that her husband had accepted a job at a major resort in Sandusky, OHIO. UGH....It was definitly not what we wanted to hear at this time but we knew it was coming because he had been applying all over the country for months. But why now!? They have to be packed and moved to Ohio by next Sunday, Nov. 14. I only  have 6 more days to see my only sister.

That leaves me and my mom and two little ones alone in this house. With out the support of my father or sister. I just want to go back in time and I know this is Gods plan and he has a reason for all of this but I just wish I knew why?

It's Been a Long Time

So it's  been a long time since I've been here. I attributate it to pure laziness. Nothing really crazy has happened in our lives except for a few seizures with the baby recently.


Here is what the last several posts would have been.






Summer Vacation to Assateague Island and OCMD 2010
Madison, my boyfriend Jayson, his son J.J. and I spent the last week of July at Assateague!
Nonna kept Robby at home so he could finish his last few days at Easter Seals.
Maddy and Mommy enjoyed some much needed time together!

Catching some waves!

Jayson enjoying some shade!

The horses were all over the island!

Crabbing at the Pier!
We caught a girl crab!



Last night we went mini golfing!



Stopped at Hooters on the way out of town for Jayson's 31st birthday!
Not my fave place because of the environment but... they have the best wings!!!



Mommy is beat!

The butterfly we found and tried to save at our campsite. It was hurt. 

 

On July 28 we woke up at 3 a.m., left our campground and traveled to Chincoteague for the annual pony swim. It was amazing. Because we woke up so early and got on the first shuttle to the island we were lucky enough to sit in the very first row in front of 40,000 other visitors! It was amazing. Here are some pics from the swim. I shot mostly video that day and haven't figured out how to upload it just yet.

 We had such a great time and then we traveled to where the ponies were penned for the auction the next day and it was just good old southern fun!

In August we had another busy month. Lots of medical tests for me and some scary results.

My cough has been going on since March, so the pulmonologist took a catscan which revealed a small tumor in my lower left lung. The Petscan that was taken a few days later revealed that it may be cancer. I am going for some more cat/petscans on Nov. 3 and then the heart/lung surgeon will perform a surgery to remove the tumor. I will be hospitalized for about 3 days and out of work for about a week. I am not a smoker so that is what is so frustrating about this experience.

I look up to God and just ask why? I have too much on my plate with the baby and now this!?

On Oct. 4th I will also be headed to John Hokins to see the Neuro-muscular doctor down there. I am hoping to get some answers to all of my muscle issues. The docs are currently treating me with medications they would use for an MS patient. But I do not have MS. According to them. So a second opinion at Hopkins is very much needed. 

Now onto Robby! He is doing well. He started Kindergarten at Kratzer Elem on Sept. 7 and is adjusting, albeit very slowly but he is getting used to it! 

Last week he had another seizure. It was wierd because it was only Tonic and it happened as soon as I woke him up and he opened his eyes. He went immediatly into a seizure. Thankfully his nirse had just arrived and was able to help me comfort him. There was no warning this time. He just went right into a seizure.   

Here are some updated pics of Robby for you to enjoy! These were taken from the night in the country in Northwestern. This is an annual event where the whole town gets together and they end the night with Fireworks! It is so much fun. Robby was pretty tired in these photos!

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So that is the last three months in a nutshell! (and in photos)

I hope ya'll are doing well. We are just busy with daily life and new titration in meds but other than that we are well!

24 hours later

Yesterday Robby had a 24 hour EEG. It went ok for the first 8 hours. Then I left him alone for 2 minutes and in that time he managed to pull off 8 leads! So at least I know we have 8 of the 24 hours. I tried to put the other leads back on but who knows if I did it right. The hardest part was getting them on it took his nurse and I to both hold him down. He has amazing strength when he is angry and upset. (I wish I could have that much strength!) Here's some pics of our morning.

I know I have kept saying I was going to get pics and posts up here from this summer for awhile. I have not felt like being on here at all most days and then I feel guilty about not posting to update you. Know that soon I will get back into the swing of things with posts but for now I need a break. Just too tired by days end. I really can't wait for the summer to be over at this point and the kids to be back into the school routine.

Talk to you all real soon!

HAPPY BIRTHDAY TO MY BABY!!

Robby turns 6 today! Happy Birthday to my baby... I can't believe that you are 6. Seems like yesterday when I first saw your beautiful face. I thank God that you are still with us. We all love you!
Off to work, I'll post more later!

HOPE

I am in a hopeful mood today.... I need to be and you shall find out why but I can't say just yet.
The kids are good. I am just ok. My health sucks and I am so tired. That is why I am hopeful for things this week to be good. I found this on antoher blog and it fit for todays post.

Now faith is being sure of what we hope for and certain of what we do not see. Hebrews 11:1 NIV

I still have to post pics from vacation ...hopefully that will happen tomorrow.

"Hope"     what a word ;)

Beautiful and Intelligent Madison

My beautiful and intelligent Madison....You make mommy smile everyday. You make me laugh and light up this house!

 

Here is a picture of Madison my mom took two weeks ago before our vacation, it is Madison's first holy communion pic.
Isn't she gorgeous?!

She has always had beautiful long dark hair, part of the problem is her dad is controlling over hair (and mine when we were still married). He always loved long dark hair. It was grounds for divorce in our house (kinda makes me wonder why I didn't cut my hair sooner) haha. :)

But anyway I am trying to teach Madison you cannot let anyone, especially a man control you over something as dumb as hair. She wanted to cut her hair for a long time as short as mine and to be honest I was tired of her whining about the knots in it every morning,

Sooo........

here is the new Madison Marie:

And she is still so unbelievably beautiful and intelligent!

I just want to eat her up!

She is an amazing girl and as she told her father after he freaked out "Daddy, hair is a renewable resource!

That's my girl!

We had a wonderful vacation and Robby did very well with my mom the whole week Madison and I were in Assateague/Chincoteague. I'll post more of those pics this week. I promise. 

It was a much needed vacation although I came back to a Monday morning, 1/2 day at work, long drive to Shriners in Philly with the baby for an ortho appt and now I am going to pass out.

 Oh where, oh where, did that wonderful vacation go?

Today Is 9 Years & We Miss You So Much

Today is 9 years since my Daddy died. You are so missed Daddy!

Leonard H. Frederick
April 9, 1948 - July 17, 2001

We love you and miss you more and more each day. Thank you for watching over us.
I heard this song today and it was so good.

And the Frederick-Prohaska Family is Back!!!

After many many months of being really sick I am finally back to about 75%.

We have had so much happen in the last month I hardley know where to begin. So for the fun part first here are some new pics of the kids.

First we will start with Robbys graduation from Easter Seals, there's lots so enjoy!

Mommy, Maddy, Robby and Daddy

So happy for our baby!                                          RAP III and RAP IV

Mama and Robby

The family! Aunt Stacie, Uncle Dave, Nonna

and mommy, daddy, maddy and the grad!

Aunt Stacie and Robby

Robby with his aide Toshia

Getting ready to walk!

Look out world here I come!

Toshia and Robby

Robby in his special chair

Robby giving mama his present! Actually Robby was voted most likely to play baseball and the look on his teachers faces are priceless because my boy has an arm! He actually threw it at me!

Here's the diploma!

Robby giving Toshia aye-aye's!

Some other recent pics!

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This picture is of Maddy at the duck race that Rob took her to on the 4th of July!

Her duckie came in pretty far back. There were over 300 ducks and kids!

This is Sarah, Maddy and Robby's new puppy at their dad's house. Sadly their dog Murphy went to Heaven this past Monday. Sarah was added a few days later to the fam!  She is 8 weeks old and is so tiny!

Ok so onto the other news in our life.....

I'll start with Robby first. His seizures have increased. And so because of this his medicines have increased. The Docs belive that Robby's body may be metabolizing the Lamictal to fast so we are adding an afternoon dose now too. He had two grand mal seizure in two days last week. One on Monday June 28 at 4:15 a.m. and another at 10:24 p.m. on Wednesday, June 30. Thankfully he was sleeping next to me both times. Rob and I both agree we feel better when he is with us.

I did not have to give diastat on Monday because his body actually stopped seizing on its own. The one on Wednesday required diastat and it scared me most because I could not suction him since I don't have a machine.

That changed this week, we have now added suctioning to our lives. It is horrible. I can't stand watcing my beautiful boy seize and then to have to stick this plastic tube in his mouth and suction him. It just breaks my heart.

So this is our newest reality.

Robby is also now at home fulltime with his old nursing staff and agency that we had when he was first born. Robby could no longer stay at the medical daycare daily because he required too much one on one attention.

It is nice to have him home. But I know both Robby and his old nursing staff miss each other terribly.

Everybody loves my little boy.

I took the kids bowling this weekend together for the first time. It was awesome they set it up just for Robby and his wheelchair. I'll post pics tomorrow. We also had an annual trip to Kennedy Krieger yesterfay and got some exciting news. I'll post pics of that tomorrow and updates about the appt too. It's getting late and this is getting long :) 

Hope all who are reading this are doing well!