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.
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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