Monday, March 7, 2016

Grief...I don't know I would feel like this..

Grief can make you feel like your going crazy. No one told me this...until I went to see a grief counselor after Cody passed away and Averi became sick. This is a completely normal feeling associated with grief! You will make it through...slowly the intense, unbearable pain will start to deminish....and you will be able to breathe again! You can make it moment, one second, one minute and one day at a time!! You are never alone.
-Erin Mading

Monday, February 29, 2016

CMMRD getting the FACTS straight! Rare Disease Day 2016.

Getting the Facts Straight After Family Loses 3 Children in 6 Years to Hereditary Cancer Syndrome CMMRD

This story is included in our series of articles built to highlight rare hereditary cancer syndromes. Below Erin Mading shares her family's experience with CMMRD.

Genetic Counseling Note: Lynch syndrome is an autosomal dominant condition. This means that a person who carries one copy of a mutation in any of the 5 genes known to cause Lynch syndrome is at increased risk to develop multiple adult-onset cancers, especially those of the colon, uterus and ovaries.  

A person who carries two mutations in the same gene of any of the genes associated with Lynch syndrome (MLH1, MSH2, MSH6, PMS2) has a completely different syndrome called Constitutional Mismatch Repair Deficiency (CMMRD). This usually occurs when that person inherits one mutation from the father and the other from the mother. This rare condition is associated with a high risk of early-onset cancers, including childhood onset cancers of the brain and blood. Café-au-lait spots (flat, light brown birthmark-like marks on the skin), are also common.  

Erin, thank you for granting this interview. We were very sorry to hear that your 10-year old daughter Isabella – or ‘Bell’ as you called her – died just a few weeks ago of a CMMRD-related brain tumor. First, can you tell us about Bell?

Bell was an energetic, happy girl who wanted to be a nurse when she grew up. She was a social butterfly who enjoyed every moment of her life.

We offered to postpone this interview for a few weeks or months because of what you and your family are going through, but you were interested in doing this now – why?

Because I want to bring awareness to CMMRD, Lynch syndrome, and other inherited cancers, and push for a cure. I never want another family to watch their child take their last breath.

Tragically, you’ve lost 3 of your 5 children to CMMRD-related cancers in the past six years. How did you learn that these cancers were related to CMMRD?  

Our son Cody was diagnosed with an optic glioma at age 11, and then at 16 he was diagnosed with a giant cell medulloblastoma. Cody had café-au-lait spots on his skin and his doctors thought he had a genetic condition called Neurofibromatosis Type 1 (NF-1), but he didn’t. Cody died at age 17. 

A few months after Cody passed away, our daughter Averi was found to have blood in her stool. A colonoscopy revealed that she had dozens of precancerous colon polyps, and so she had her colon removed at age 14.  Two months later Averi was found to have a brain tumor called a glioblastoma and she also had café-au-lait spots. It was suspected that Averi might have a genetic condition called Familial Adenomatous Polyposis (FAP), but she did not. We requested more extensive genetic testing and learned that Averi carried 2 copies of a PMS2 mutation. Averi died at age 17. 

Our daughter Bell was diagnosed with glioblastoma last year at age 9, and she recently died at age 10. She also had 2 copies of a PMS2 mutation. 

Many people are confused about what is happening in your family, and think your children had Lynch syndrome – but they did not. They have CMMRD, caused when a child inherits two copies of a Lynch syndrome mutation in the same gene. Do you have a personal and/or family history consistent with Lynch syndrome?

No, we don’t on either side of our family. My paternal grandfather had colon cancer at age 82. We have no history of early-onset colon cancer, uterine or ovarian cancer. The childrens’ father and I have not yet had genetic testing, but intend to when our lives settle down a bit.

It's unusual for 2 parents to each carry a mutation for Lynch syndrome.  

Yes. As far as we know, we are not related to each other, although we’ve learned that is a common finding in other families with CMMRD.

Have your other 2 children had genetic testing?

One of my daughters has tested ‘true negative’ and does not carry any Lynch mutations. The other daughter has chosen not to be tested at this time. Neither have café-au-lait spots, so we are hopeful that neither has CMMRD.

I’ve heard a lot of people say, “How do they do it?” in regards to you and your family. What is the answer?

I have a lot of faith in God. We pray a lot. My passion is to try to find a cure. God has a bigger plan for us. Hardships bring passion and empathy.  We can either hide in the corner or make a difference for another family.  We’ve chosen to make a difference – that is our goal.

In a sea of loss, is there anything positive that has come from this experience?

Awareness. And there are so many wonderful people out there that this information could help. 

What advice do you have for a person who wants to support a family going through a medical crisis and tragedy?

Be there for them unconditionally. People sent Bell cards and packages when she was sick, people donated money to us – it allowed me to stay home and to take care of, and spend time with, my daughter. Every dollar that people kindly donated changed our lives. The kind words and prayers were so appreciated.

What do you hope people will learn from your story? 

Never give up hope. You don’t know how strong you are. Everyone has this strength inside of them.

Saturday, February 27, 2016

The Candidly Graphic truth of losing our beautiful Bell to CANCER!

It's been 3 weeks today, since Isabella left for Heaven!! 

I really believe God gives you a numbess at first, when u lose your beautiful child.  A God given merciful numbness, because he knows the raw emotions and deep indescribable anguish if felt all at once...would kill you instantaneously. A numbness that allowed me to

•  See my sweet child's 10-year-old delicate body, in her new beautiful dress, in a casket that is much too big for her tiny little body. 

•  The courage to standing over her wooden casket, at the cemetery. Knowing in a few brief moments, her delicate body will be lowered into the deep, dark, cold earth. They will cover  her casket with the mounds of dirt placed inconspicuously to the side, of what will be her final, earthly resting place.

•  I will never again get to hold her tenderly in my arms. To feel her hand soft hand holding mine. Hear her lovingly call my name or run my fingers through her thick hair.
•  The strength to Attend her beautiful celebration of life Memorial Service. I hear the kind heartfelt word spoken about my beautiful, Isabella. I look around and see all the amazing people God has so graciously put into our lives and I am so grateful but yet in my mind it doesn't seem real. I watch the slide show of the pictures and videos that I will treasure the rest of my life...but the numbness and God given peace tells me, my precious Bell is no longer suffering, and is joyfully with Jesus, Cody, Averi and so many others wonderful friends and family she so deeply loves. 

The numbness that has gotten me through the unfathomable last 2 weeks has slowly begun to wear off. My soul desperately aches from the reality that my little girl is no longer here anymore. 

Every single room in our home is a constant reminder that she is Really gone. Her pink toothbrush is still sitting in the bathroom. Her American Girl books are still stacked neatly on the bookcase in our livingroom. Her dirty pajamas she wore the last week of her life are still sitting in the plastic bags given to us from the hospital. The thought of washing them, brings me to tears. Her bedroom is still the exact same way she/we left it for the last time, 5 days before she left for Heaven. That last night I slept along side her in her bedroom...I wish I had known it would have been the very last time.

I try to avoid going into a store that sells size 10-12 girls clothing...from the agony of knowing I will never again get to take my outgoing, appreciative and energetic, Isabella shopping for the perfect outfit for her dance class, dresses for church and all the things she needs.

I'm mentally and physically exhausted...but sleeping seems to elude me. I wish this unbearable feeling of despair deep inside my soul, would subside, even if it is just for a minute. 
I know in time, the pain will slowly begin to deminish. 

And most importantly, I know God has a much bigger plan. A plan that I will do everything in my power to follow. I wanted to be brutally honest about the way we feel after losing our precious Isabella. Too many families are enduring the pain of losing a child. Unless you have been through it, you have no idea the impact, horror and unfathomable pain of having your absolute worst nightmare come true....losing your precious child....watching the little girl you gave birth too, take their very last and final breath! Something needs to be done to stop this epidemic. 

I feel COMPELLED to show the world and be Brutal honesty about the unimaginable pain of losing my sweet Isabella. In HOPE, that the world seeing  this, will compel other families (as unbearably hard as it seems) to show the brutal honesty of their child's journey, to know they are not alone we are fighting with you. And most of all to bring the Undeniable, Candid and heartbreaking TRUTH to The Government, FDA, NIH, President Obama, Joe Biden, Scientists, Physicians and every single person in this WORLD that can help PUSH, FIGHT, FUND and WIN this WAR on Cancer!  
-by Isabella Mading  
Every single solitary day, 250 children and their families around the world every single day are enduring this! Some of these photos are graphic, but it's iMPORTANT to me, for the world to see, what its like to be one of those 250 families ..with a child dying of CANCER, IT IS NOT ALL RAINBOWS and BUTTERFLIES or SMILING BEAUTIFUL BALD CHILDREN
It's a relentless battle, a FIGHT that should never have to be fought by any single person in this world. We can clone animals and go to the moon yet, we can't CURE cancer. I beg to differ! I know TOGETHER  we can all change the WORLD and WIN the WAR on STUPID CANCER! 
With God all things are possible! I believe, hope and PRAY for a world without cancer!
Some of these photos are graphic, viewer discretion is advised. These are photos of the nightmare my beautiful daughter had to go through....and our family's deep anguish (like millions of others) during the moments, right after after our faithful daughter, Isabella passed away. 

Isabella went to Heaven at 2pm February 6th, 2016...I know she was met at Heavens Gates by Jesus, her brother, Cody, sister, Averi 

The sun was shining brightly on her beautiful face, 2 hours later...when we had to (I have no words to describe the unfathomable pain) force ourselves to leave her side for the very last time....and walk out of the hospital the very 1st time....without our courageous, beautiful, loving 10 year old daughter, Isabella. 

Wednesday, February 10, 2016

Please join us in Celebrating the life of our Precious Isabella!

Isabella'a Memorial Service will be held on Saturday, February 13th @
Anchor Christian Church 
11651 East Terry Street 
Bonita Springs, Fl. 34135

Please join us in CELEBRATING the life of our courageous, Isabella!!🎈🎈🎈


Tuesday, February 9, 2016

HEAVEN is the face of my little GIRL...

 Isabella and Olivia snuggling for the last time, before our sweet  Bell was taken to Heaven.
Isabella'a MRI on Monday, February 1st
I'm sorry this has taken so long for me to post, it's been extremely hard to find the energy or the right words to express the deep pain and sorrow in our hearts.

Isabella went to Heaven to be with Jesus, her brother, Cody and sister, Averi on Saturday, February 6th at 2pm. 

She was lovingly surrounded by her family, and her wonderful Oncologist, Dr. Gary Mason (Isabella would always refer to him as, "My Doctor" anytime she was not feeling well. In her eyes Dr. Mason could make any situation better). We will forever be grateful to Dr. Mason. He went above and beyond the call of duty to do everything in his power to save Isabella'a life. If it was not for this exceptional man, we would not have had the last few beautiful months with our precious child! 

We are sooooo touched and awestruck, by all of the outpouring of love and support shown to our family! Thank you, to every single solitary person for the hopeful prayers, kind words of encouragement, heart felt donations (without each of you, I would never have been able to spend the last year of her life, spending every second I could with her). You have touched our lives more than you will ever know!!!!

Isabella had unwavering faith in the Lord. Her last days were spent happily...smiling and laughing with her sisters. I look back at the last 5 days of her life. She had a peace in her spirit, that makes me believe,   she knew she was getting ready to leave us for Heaven. A day and a half before she passed away, out of the blue she said, "Averi." Which was very unexpected and miraculous  because she had a very hard time finding words (although her mind was completely intact) or expressing her thoughts and needs. I remember that day she was also staring out the window of her hospital room, pointing and smiling with a look of awe on her face. It was as though she saw something joyous and spectacular...maybe it was Heaven. 
My will, sadly, was not inline with God's. As absolutely heartbroken as I am, I  know the Lord has a bigger purpose. A purpose that I pray to see in my lifetime. I will forever be eternally grateful to God! I am honored and blessed that HE entrusted me, to be Isabella's, "Mommy," for the 10 beautiful years, he placed her on this earth. 
I pray with all that I am, the PD-1 immunotherapy treatment, Isabella received, and the findings from her Autopsy (brain, colon, lymph nodes) will help at least one family....NEVER EVER have to endure or experience this unbearable heartache of this beast, called cancer!
Did you think by taking the lives of our THREE, Faith filled, courageous and beautiful children....would make us lose our FAITH, DETERMINATION  and HOPE? You have only made us more EQUIPPED, DETERMINED and PASSIONATE to bring glory to God and to put an END to the DESTRUCTION and TRAGEDY you have placed on too many families! 

We will NEVER stop searching, fighting, advocating and doing Everything in our power to find a CURE....

Bell on Thursday. It's amazing how great she looks...we were still hoping and praying for a MIRACLE!


Wednesday, February 3, 2016

Bell is given DAYS to live....

Bell and Kylie yesterday afternoon.

As I sit here, next to Bell, my mind is racing. It's incredibly hard to find the words to express exactly how I feel...what I think..what I believe... Numbness, confusion, sorrow and fear invade my heart, but still a glimmer of HOPE lies inside my soul...

Here are the events of the last few days:

• Four days ago- I noticed Isabella'a helmet (she has to wear it to protect her brain until her skull is replaced) was starting to get tighter...yet she is continues to make daily improvements in her strength and speech.

• Monday morning-  Bell woke up complaining of a terrible headache (I was worried because morning headaches can be a sign of tumor growth).  I gave her Tylenol and got her ready to go to her 1pm doctors appointment. 

• Monday at 2pm-  Isabella has her appointment with Dr. Mason. She has blood drawn to send to Dr. Tabori in Toronto. The test is to check how well her body is reacting to the PD-1. 

• Monday 3pm- Isabella starts her 7th Pd-1 infusion. She happily eats lunch. I notice she seems more tired than usual. 

• Monday 4:30 pm- Isabella is done with her infusion. As we leave, she happily tells Dr. Mason and Kassie goodbye. They comment on how good they think she looks. And we head downstairs to the car. 

• Monday 5:10 pm- A few blocks from the hospital, Isabella starts crying that her head hurts. We turn around to head back to the hospital, and she vomits. 

• Monday 6pm- Bell is admitted to ER and given an MRI.  

• Monday 8:30 pm- The ER doctor inform us that Bell's brain is dangerously swollen (10mm midline shift) and they are very concerned her brain will herniate. They are amazed at how well she looks, in spite of how grim her MRI looks. She is started on high dose Decadron. 

• Tuesday morning 1am- Bell is transferred to the ICU. She is stable. I get to have another wonderful (sarcasm) discussion about our wishes to have Isabella resuscitated if and when her brain herniates. 

• Tuesday 10:20 am- Dr. Mason comes in to give me the latest update after reviewing Bells MRI with the radiologist. This is my interpretation of what he said:  

Isabella'a tumor has grown significantly, he has never ever seen a brain tumor grow this quickly. Surgery, in his opinion, is not an option because they would have to remove the entire left hemisphere of her brain. Some of this is likely do to the swelling caused by the Pd-1, but he feels very confident that the bulk of the mass is TUMOR. She probably has SEVERAL DAYS to 2 WEEK to LIVE! (I have to say, Bell is so blessed to have Dr. Mason as her Oncologist. He is one of the most wonderful doctor's we have had the privilege of working with)! 
 Dr. Mason agrees to give Bell another Remicaid infusion, to see if it will possibly help with the brain edema. And to send her MRI over to Dr. Storm in Philadelphia to get a second opinion. 

• 11am Tuesday- I sit down with the Pallative Care team to have the exact same discussion as I did 2 months ago, about end of life care for Isabella. 

• 4pm Tuesday- Isabella is given the Remicaid infusion. 
• 10am Wednesday- Isabella'a bone flap on the left side of her head looks substantially smaller and less swollen! She is laughing, talking (saying more words than yesterday) and being stubborn about the usual things she is stubborn about.

Do I think this is the end? 

My heart says, "No." I still stand in faith knowing God is in control. As much as I wish I knew what God's will was, I don't! 
I pray as always, that his will is in align with heal my sweet Isabella! I don't know what the next hour...the next second or the next minute holds for our beautiful child. I know Bell is in God's hands!! As unfathomable as it seems to me, God loves her more than I can even imagine. 


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