Mabel Larson

‘MEET MABEL!’

Our daughter, Mabel, is 18 months old.  Mabel has all the symptoms of a syndrome or disease yet everything we find in her blood work is so ‘rare’ that we are left without a solid answer.  Our hope is that research can catch up with Mabel’s symptoms faster than they progress.  Sadly, it is unlikely.

Mabel has vision and hearing impairments, a seizure disorder, severe hypotonia (she doesn’t sit or roll over, etc.), has poor coordination, eats by g-tube, has delayed gastric emptying, severe allergies to milk and soy, along with many other symptoms.  We see up to 6 specialists and have 6 therapists on her care team as well.  Currently, we are treating her symptoms and are waiting for more test results that will hopefully guide us to an answer.

Rare disease affects our entire family.  We have two older children and our greatest fear is that we may not find an answer to Mabel’s mystery and they will live with unknowns in their own lives.

Mabel is such a gift.  She is the sweetest, gentlest, most smiley girl you will ever see.  She brings so much joy into our lives and the lives of everyone who sees her.  Right now, the statistic stands that 40% of children who have symptoms of a syndrome are undiagnosed.  We fall into this category for now.  Please visit our website to learn more about Mabel and keep up with our journey of getting an answer.  www.rameelinlarson.blogspot.com

Ramee Larson
Illinois

GLOBAL GENES PROJECT AND RARE PROJECT

RAISING AWARENESS FOR Those Who Are Undiagnosed

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Remi - Glucose Transporter Type 1 Deficiency Syndrome

‘MEET REMI!’

Meet Remi Savioz, a beautiful, curious, energetic 13-year-old girl with a spirit and smile that captivates everyone she encounters.

When you first meet Remi, you will notice that she has speech difficulties and some physical challenges.  You will also notice that she has a tremendous enthusiasm for life and making friends.  What is not immediately evident is the remarkable challenges Remi has overcome in her young life with her steadfast determination and pride.

Starting with her first seizure at 3 days old, Remi’s first year of life was marked by struggles associated with unexplained sickness and subsequent hospitalizations.  She experienced a host of medical symptoms, including near constant seizures, unexplained fevers, tremors, dystonia (sustained twitching/abnormal postures) and hypotonia (low muscle tone).  She didn’t meet any normal developmental milestones.  She didn’t roll over as an infant and did not sit until she was almost 4 and a half years old.  Walking did not come until age 5 and, even then, she experienced uncontrolled movements, tics and falls.  Remi wore a helmet until she was 8 to protect her head from her falling and dropping episodes.  Remi was finally diagnosed correctly after 8.5 long years of failed and misdiagnosis.

Remi continues to inspire and amaze us and everyone else who is lucky enough to know her.  She wants to be understood and engaged by them.  Remi continues to make “progress” thanks to the diligent and loving care of her sister, her family, doctors, friends and us.  Remi is source of motivation for her peers and family, and inspires everyone that she meets with her willingness to perservere regardless of the obstacles she is constantly forced to try and overcome.  Remi is a peaceful soul.  She has a never ending smile that is contagious.  She touches so many with her gifts.  We are so inspired to “Make A Difference” for Remi and others like her we named a foundation after her:  The Remi Savioz Glut1 Foundation.

Samra Savioz
Pennsylvania

Joseph Born - Langerhans Cell Histiocytosis

‘MEET JOSEPH!’

It was December 28, 2008 when we saw the lump in his throat.  It was small, but very obvious.  Someone finally took me seriously that something was seriously wrong and he was admitted to the hospital.

On New Years Eve, Joseph went in for a biopsy. A few days later on January 5, 2009, a doctor came in the room and said “I have good news, it’s not cancer, Joseph has Langerhans Cell Histiocytosis.”  We were so relieved… until we learned more.  This disease acted the same as cancer and was treated the same.

Children under 2 years old had less of a chance of surviving, and my son was 6 months old.  The disease was in his lungs, liver, skin, and he had a solid tumor in his chest. We would later learn it also was in his ear canal.

Treatment started immediately and at first he improved, but then he had his first of six relapses.  We switched up his chemotherapy protocol, but over time each treatment we tried failed.  In July 2010, we were told his only chance of survival was a bone marrow transplant.  So we began the process to find him a donor and to keep him healthy enough to get a transplant.

I will never forget the day the call came.  I was in the laundromat when my phone rang.  It was the Transplant Coordinator calling to inform me that a matching donor had been found and it was time to move toward his bone marrow transplant.  I collapsed to the floor in grateful tears, because my son now had a chance.

On October 4, 2010, he received his life saving bone marrow.  Today, he is a survivor.  But the fear that his disease will return never leaves, because there is not enough evidence to say he is disease free. There is simply not enough research to know.  But we will not let that get us down and we will live each day like nothing else matters.

Theresa Born
California

Natalie - Moebius Syndrome

‘MEET NATALIE!’

I am an adult in my 20′s with a rare disorder called Moebius Syndrome.  I am the first in my generation to receive support from the many groups and foundations that exist today. Because of this support, I have been able to meet and share my story with others who share the same disorder.

I have really benefited from the support of others,  I am really grateful for having them in my life.  So much of what has happened in my life is related to both my disorder and the relationships I have formed with the people that also have Moebius Syndrome.

Natalie A.
California

http://www.moebiussyndrome.com/ 

GLOBAL GENES PROJECT AND RARE PROJECT

RAISING AWARENESS FOR Moebius Syndrome

Rauri - Digeorge Syndrome

‘MEET RUARI!’

My five year old son Ruari has Digeorge Syndrome or 22Q deletion. He was diagnosed when he was approximately 2 weeks old following emergency open heart surgery.  The first year wasn’t great, but he gradually got over some of his issues and grew stronger.  He is facing more open heart surgery in 2012.

We are lucky to have him in our life, to most people he looks and acts normal so they don’t know there is anything wrong apart from being a bit short and so cute.

We will never stop worrying about what is around the corner, but one of his cheeky, wee smiles and kisses make it all worthwhile.  We love him more and more every day.

Sharyn Brown
United Kingdom

Rock Climbing

How Rare Disease Affects Me

I get asked all the time why I am so passionate about RARE Disease.  I get asked even more why I have volunteered for the last 8 years for rare disease, without pay.  Individuals who have not encountered rare disease, or really thought about it for that matter, truly become confused by my drive and dedication – especially when it comes without a paycheck. Yet, even during this economic instability we have been facing over the last couple of years, and my bare minimum income after a divorce – the answer to fight for rare disease is still a simple answer for me:

Because rare disease affects me and millions of others.  We need to raise awareness and start making it a priority.

The more we ignore the reality of what is occurring around us, the greater the difficulty to fix the problem later on.  

In my family alone, we have had countless disease and rare disease sufferers generation after generation.  And, it never occurred to me until now – how much it has affected my family – mentally, financially, and of course – physically.

Life has a purpose.

Here’s the list:

My mom:   Diabetes, Graves Disease, COPD (Diabetes was once considered rare) Graves’ disease is a rare disease affecting the thyroid gland and often the skin and eyes.

Dad:  Multiple Sclerosis(Consistently battles his disease, with occasional liver/kidney/eye failure) Multiple sclerosis is a chronic neuroimmunologic disorder of the central nervous system involving the brain, spinal chord and optic nerves.

Great Uncle:  Neurofibromitosis (They called it Elephant Man’s Disease – he died at age 22) - - Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. )

Aunt:  Alzheimers/ Dimentia (Progressing quickly – She has Binswanger disease – a progressive neurological disorder)

Grandfather:  Severe Rheumatoid Arthritis (This is a rare disease in children – he died from complications of RA) My

Son:  Russell-Silver Syndrome (Has a fresh mouth at the age of 8.5 – but, managing his disease day by day)

Me:  Neurofibromitosis (I currently have a nerve sheath tumor in my left arm that needs to be removed.) (Still waiting for final confirm from Genetics)

My mom has struggled to keep herself and her husband healthy, through constant recurrences of MS attacks and recurring pneumonia – they have exhausted any financial gains they have acquired over the years and occasionally wonder if the next hospital visit is going to push them over the edge.

My Aunt took care of her mother to the age of 102.  Now, my Aunt struggles to remember where she is and why she is living with her daughter instead of relaxing in her own home (wherever that is).

My Great Uncle and Grandfather passed away at young ages – obviously, my grandfather old enough to have me in his life until I was 7 years old – but, they both suffered greatly.  Suffering from social disparity was just a small part of their pain – as their diseases were physically overbearing.

My son goes through stages of anger, denial, and self-doubt.  He wants to be a football player – and his doctors tell him NO.  With the disproportion of his head compared to his slight body frame – the danger of concussion and bone breakage is too great.  This recent news has deflated him and his desire to be “normal” is even more great.  My heart pours out for his tender ego and sweet heart.  I love him so.

For me?  Well, I choose not to have the tumor removed.  I’m too busy and I have more important things to concentrate on – taking care of everyone else.  Besides – I am currently without health insurance and could not afford the $40,000 or more that it would take to have such delicate surgery of the nerve.  I’m not ready to take the chance of having loss of any feeling in my arm – AND – really, the financial aspect is the biggest drawback.  No.  My arm rarely hurts and the tumor is not going anywhere.  I’m fine.

So, we have addressed the physical burdens of rare disease.  The emotional drawbacks.  The financial dependence and inability to pay for much of the treatments necessary to follow-through with maintenance.

It’s disappointing, to say the least – we as a society are so focused on so many things that only focus on our immediate wants, needs and desires – that we are failing to focus on the future.  We have failed to integrate technology, politics, education and patient centered care (for the most part) toward a much needed cause – RARE DISEASE.

For me, I find happiness in knowing that even if I make a difference in the life of one person with rare disease – I am effectively making a difference for my family too. And I will do anything to make it to the top.

At the top.

Trevor Aldrian Krabbe Disease

‘MEET TREVOR!’

Trevor Frederic Aldrian is the perfect son! Perfectly made of God’s design, he truly represents amazing grace.  Trevor is living with Krabbe disease, a devastating neurological disease for which there is no cure. The disease has stripped Trevor of his ability to laugh and smile. He will never be able to sit up, walk or talk. Most children with infantile Krabbe disease do not live beyond two years of age. Trevor is STILL with us today at the age of 3 years old. But for all his physical limitations, he was blessed with so many more rare and beautiful gifts!

Because God has blessed us with such a special son, we are continuing to share Trevor’s story by creating a foundation in his name called Peace, Love & Trevor. We did not want to wait until the disease ran its course to start a foundation, as we believe Trevor was born with an amazing gift, the ability to love and inspire virtually every person he meets in his beautiful life.

The focus of the Peace, Love and Trevor Foundation is to aid other families that are impacted by Krabbe disease. With the exception of a few states, Krabbe disease is still not part of the Universal Newborn Screening (UNS) program. Until Krabbe disease is tested for in each state, there will continue to be families that need assistance in coping with the realities of caring for children afflicted by Krabbe. Living with Krabbe can cause monumental stress on the entire family, due to the devastating nature of the disease.

To learn more about Trevor and our family please visit us at www.peaceloveandtrevor.com

Nicole Aldrian
California

GGP, WRRD, and RMDA - Together

As a mom with a child with rare disease, I can relate to the needs of other parents and caregivers about raising awareness for their children.  Most of my blog entries are either about my son’s or other children’s rare disease, and my tweets on Twitter are typically about RARE Disease advocacy.

The other day, I met a woman on Twitter who’s son Dustyn had RMD (GA1) (Rare Metabolic Disorder – Glutaric Aciduria Type 1).  I had been following her tweets after accepting an invitation from her.   It wasn’t just her tweets that interested me – it was the background of her Twitter profile that caused me to pause.

This mom @RareMetabolic, using three different symbols of hope, unity, and awareness had produced an inspiring photo and placed it on her Twitter profile.

I was immediately enthralled by her ability to combine three of the most important pieces of rare disease awareness together into one symbol.  It wasn’t solely to focus on the disease that affected her and her son’s life, it represented a desire to look toward the future with organizations that are searching for the same outcome: research, disease awareness, collaboration, and support.

Dustyn and RMDA type

Kudos to @RareMetabolic for reminding us about the importance of  coming together for rare disease!

P.S.  @RareMetabolic –  The following question was posted by you on another rare disease site.  I was wondering if you knew where I could find a complete list of inborn error of metabolism?    Hopefully, the following information from Mayo Medical Laboratories is helpful to you. IEM

See this post for more comments here: http://rareproject.org/2012/02/10/lady-gaga-born-this-way/

Born This Way Foundation

On February 29, 2012 – World Rare Disease Day is celebrating the Rare Disease population, instilling hope and inspiration to others, creating awareness for their inherent disabilities and often incurable chronic diseases.

CALL TO ACTION!

Unity creates empowerment.  On February 29, together, we can continue to create awareness about RARE Disease, research and better treatments.  Together we can empower our children to love themselves and find their identity amongst a population that misunderstands those who are “different”.  Together, we can help our children become the individuals they were meant to be uniquely – R.A.R.E.

CHECK OUT THE BORN THIS WAY FOUNDATION FACEBOOK PAGE HERE AND THE TWITTER PAGE HERE.  WHAT DOES BRAVERY MEAN TO YOU? SEND LADY GAGA A MESSAGE AND LET HER KNOW THAT THE RARE DISEASE COMMUNITY SUPPORTS #BORNTHISWAY!

http://bornthiswayfoundation.org/