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World Rare Disease Day Blog Hop

1/29/2012

6 Comments

 
    You may have heard that 30 days from today is World Rare Disease Day.  The Global Genes Project cites the number 30 as significant because 30% of children with a rare disease will die by their 5th birthday.  At times during this past year, we weren’t sure Faith was going to see her 5th birthday. Faith was born with a Syndrome Without A Name, one that does not show up on current genetic tests.  Also, over 30 million American’s are affected by a rare disease, more than the total number of people living with cancer worldwide.  The number 30 is significant for us, both because Faith’s birthday is June 30 and because it was the last day in 2011 that our family’s lives were “normal”.  January 31, 2011 was Faith’s pyloroplasty (routine surgery to open the valve between stomach and small intestine).  Faith went into GI failure after this surgery, unable to tolerate any food through her g-tube, a GJ-tube, or even a new j-tube, a result (I believe) of epigenetics.  TPN was started through a PICC line [long IV catheter placed in the subclavian vein
by the heart] and Miss Munchkin was sent home to our improvised ICU-in-the-living room. 
    Over the next five months, Faith went through another PICC and two tunneled central lines, resulting in two very scary cases of bacterial sepsis.  A trip to Cincinnati Children’s Hospital didn’t produce any more ideas on her case, and I honestly think our doctors were stumped (which is totally understandable; our doctors at Riley Hospital for Children in Indy are awesome). The ER at Riley came to know us by
sight, and the staff on 8E always had our room ready with soma bed, animal figurine toys, and Wow Wow Wubzy DVDs. During these five months, Faith was also diagnosed with epileptic seizures, developed a shrinking bladder, a chlorohexidine allergy [Chloraprep, an antiseptic skin cleaner], and nice case of PTSD from hospitals. 
    Slowly, but surely, we were able to increase Faith’s j-tube feeds and decrease her TPN until the joyous day we said goodbye to IV pumps, CADD pumps, heparin flushes, and central line dressing kits.  Faith turned 5 in June J, we were able to go on her Make-A-Wish trip to Mickey’s house [Disney World] in August, and started preschool again in September.  Faith isn’t out of the woods completely yet: she still has continuous j-tube feeds because of no gastric motility [her stomach doesn’t move], has constant urinary tract infections and bladder spasms, has weird constipation issues, and is in behavioral therapy.

    I like the way SWAN USA explains what it is like to have a child with a Syndrome Without A Name:

Common things that are said or thoughts from those who are dealing with the frustrations of not having a diagnosis. 
-Will future children be at risk? This is the most common concern of parents with undiagnosed children. The amount of risk you are taking in having another child, could be the deciding factor. Or preparing yourself of the risk is very important to those wanting more children. If your child is able to have children will their child be effected? Or if siblings have children will their children be at risk.
- It is difficult to access support services. Reasons may be not knowing where to turn. Finding support in just one area of your child's differences may leave parents feeling alone because their child has other differences that the supporters can't relate.
- Unable to get any information about the child's disorder. Learning everything there is to know about something that affects your child is very important to many. When unable to do this it may leave some feeling like they aren't doing everything that they can to support their child.
- Always debating whether to test or not. Not knowing what might occur leaves the doctors either testing too much when it is not necessary or not enough when it is important. Many times this leaves parents in a very hard and emotional position. When tests keep coming back negative, parents may start to refuse some test that may be helpful. Having to put children through all the negative testing is many times very traumatic for both child and parent. At least if the test was positive what you put your child through might feel a little easier when knowing the possibility of a positive outcome that might come from knowing.
- Parents are looked at as the problem. In some cases Parent are thought to be the cause of the child's problems. This adds to stress that some parents are already dealing with. This could cause more difficulty in dealing with the real issues that the child may be having.
    Undiagnosed children fact sheet. (2011). Retrieved January 29, 2012 from 
        http://www.undiagnosed-usa.org/factsheet.htm 

World Rare Disease Day Statistics:
·An estimated 350 million people are affected by rare disease worldwide.
·1 in 10 Americans is affected by rare disease.
    · That’s over 30 million people.  30 million Americans is more than the total number of people living
        worldwide with cancer (28 million according to the Livestrong Foundation.)
· There are more than 7,000 rare diseases with some affecting less than 100 people.
·75% of rare diseases affect children.
·Almost 80% of rare diseases are genetic in origin. 
·These rare conditions are chronic, life threatening and FATAL.
    ·There are NO cures for any rare disease, and only 5% of the diseases have any type of treatment.
·Over 50% of Rare Diseases have no foundations, advocacy group, or community support.

Take Action:
1. Help unite 1 Million for RARE on the Global Genes Project Facebook page so that we can
increase awareness to the rare disease community.
2. Wear That You Care (using jeans to call attention to genes that can cause rare disease) on World Rare
Disease Day and encourage others to do so too.  Include your schools, sport teams, places of worship, friends, family and coworkers! Share your photos on Facebook. Tag Global Genes Project.
3. Donate a bracelet to the 7000 Bracelets for Hope campaign and bring hope to a child/family
living with rare.
4. Are you living with rare? Sign up to receive one of the 7000 Bracelets via the Global Genes website and also join the R.A.R.E. network.
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6 Comments
Mindy Mooney link
1/30/2012 02:21:01 am

It must be so agonizing not having any real answers when your child is obviously struggling. I am glad to hear that she is doing much better and I hope that one day you get every single answer that you need. I appreciate you sharing this with all of us on the blog hop, awareness is key!

Mindy~(fellow rare disease mama and blogger)
www.mooneyequalsmc2.com

Reply
Ann
1/31/2012 08:58:15 am

It is REALLY hard not having any answers as to why our munchkin is hurting and in some ways regressing. We're on pins and needles waiting for results from some tests we had last week. I think the hardest part is not knowing how long we'll have her. Although with her autism, she can't tell us about pain she's very obviously having; and it's heartbreaking to not know how to help her best.
Smile of the week, though: she's going through a very huggy phase. I'll be drawing up meds or recording diaper weights, and feel arms around my waist, and hear "awwww" (she knows you're supposed to say "awwww" after you hug) : )

Reply
Ann
1/31/2012 08:59:09 am

btw, I'm Faith's second momma (that's all I can say thanks to HIPPA)

vintagesusie link
1/30/2012 03:45:01 pm

Bless you & your family, may you baby girl have a New Year filled with good health, hope & a cure...no baby should have to go through so much! We must have research to find out how to cure these rare diseases, so many family's suffer in similar curcumstances. Bless you all...Susie

Reply
Ann
1/31/2012 09:02:53 am

Thanks, Susie! We know we're not the only SWAN family out there, so we're really pushing for more research! Once our organization gets off the grounds more, we want to educate parents to advocate for research and equal care for our sweet little rare kids.

Reply
Jessica link
2/16/2012 11:33:38 pm

Found you via the rare disease blog hop. What an incredible story. I am so glad Faith is doing better and that she was able to experience the joys of a Make-A-Wish trip! (I received a Wish when I was 17, so the organization is very close to my heart.) I knew there were rare diseases without names but it is helpful to actually read a story of someone living with one. My prayers are with you, Faith, and your family. Take heart; new discoveries are being made every day. My own disease is a document killer that was supposed to take my life by age 10, but I am still here at age 30! I am so thankful that we don't come with expiration dates! Thank you for all your awareness-raising efforts. It helps not only SWAN, but the entire rare disease community. Best, Jessica (http://rollerskatingwithrickets.com)

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    Amanda

    Faith's Mommy and primary caregiver.

    Ann

    Faith's former nurse and bestie.

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