AS many of you know I am working with CanPKU and our wonderful team of advocates to encourage our BC Government to cover KUVAN and our low protein medical foods as they are medically necessary to all those with PKU.  We have submitted various material for their review including the brain protection strategy document that can be found on the CanPKU website.  in support of our other efforts, we have involved the media as well as some of us are collecting petition signatures.  We encourage all BC residents to sign , or download the petition from the CanPKU website and have your friends and family sign it. After anyone collects 100 signatures they can then be HAND delivered to your MLA to be read into parliament. you can collect more than 100 signatures but this is the minimum we are asking to collect before approaching an MLA. I am so not good at asking strangers and everyone I see to sign this and I have been struggling to  collect my goal of 100 signatures. So I decided to utilize my co workers! I wrote a letter to my co workers and posted it in our staff lounge, as well as our nurses station. I am happy to say I have begun collecting the signatures. I also posted spare copies for them to take home. Alot of my nursing co workers including the nurses aides ( RCAS/ HCAS) have taken them home or to school to help collect more signatures. I am so overwhelmed with there support and I know together we will make my goal! Then I can deliver them to my local MLA who also happens to be the BC Governments Health Minister ” Terry Lake! “So a big thank you to all my co workers and my friends !! 

I wanted to share on here, the letter I wrote to my co workers.  So here is what I wrote and posted in the lounges: 

Dear Fellow Co-Workers.

My Name is Amanda Cosburn. I am an LPN and have worked in the LCU for just over a year. I was born with a rare, genetic and metabolic disorder called PKU, Or Phenylketonuria. PKU has been screened at birth since 1967 on all babies born in Canada and America, as well as other countries around the world. It is that heal poke test!

PKU is a life long brain threatening disease, where people born with PKU are unable to break down the essential amino acid “Phenylalanine”. Phenylalanine or “PHE” is one of the 9 essential amino acids that make up protein. It is broken down in the body into tyrosine. However in people born with PKU, PHE cannot break it down. It instead accumulates abnormally in the blood and the brain. This accumulation causes a range of critical Neuro-Congnitve side effects. If left untreated it can lead to mental retardation. There is no cure for PKU. PKU is treated with a life long restricted low protein diet, which is a combination of an essential medical formula, fruits, vegetables and low protein foods. These low protein foods are a medical food, where they are chemically altered not to have PHE in them. Essentially some one like with me, who has PKU must weigh and measure everything they eat, and count the grams of protein. For Example, my tolerance of protein is 5 grams of protein A DAY! Treatment also includes measuring the amount of   PHE in my blood. I test my blood similar to a diabetic, by pricking my finger.and applying the blood to a filter paper, let it dry and mail it to BC children’s hospital in Vancouver for testing.  To maintain healthy blood levels and to protect my brain, I rely heavily on my medical formula and low protein medical food. I could not manage my PKU without them. Or have the quality of life patients like me deserve.  Unfortunately, these foods are very expensive. (Example $9.00 for a box of pasta, or $55.00 dollars for a box of baking mix) I am lucky that the medical formula is covered by the government, but my medical foods are not. I spend sometimes $220.00 a month on top of my regular grocery bill. BC is currently the worst province in Canada to have PKU. Many provinces have some sort of coverage; Alberta and Ontario have unrestricted coverage of the low protein foods.

After a long 2 year battle and with the appointing of our new Health Minster and PKU Supporter, Kamloops Local Terry Lake we are hopeful that we are on the right path and have decided to issue a petition to our government supporting the coverage of all PKU treatments. I am asking today for your help, because not many people know what PKU is and because it is so rare, our voices are small.Alone we are rare, but together we are strong. Please show your support by signing the attached petition. My goal is 100 signatures. I will be collecting the petitions on September 26^th to take with me when I travel to my home town of Victoria BC, where I will submit the signatures to Terry Lake, to be read into parliament.

I thank you in advance for your support. Your signature will be helping improve the quality of life for the 170 BC patients like me, living with PKU. For more information on PKU please feel free to view my blog about my life with PKU at www.pkuamanda.com

Yours Truly, Amanda Cosburn LPN 

In my last blog post I posted about new born screening including a list of some of the diseases and disorders screened for at birth with new born screening. Today is part 2 to that blog post. This post dedicated to “September is newborn screening awareness month ” theme , I am posting some of the conditions screened for specifically in Canada.

They are as follows, ( source; http://www.newbornscreening.on.ca/bins/content_page.asp?cid=7-21&lang=1 )

For more information on these disorders/ diseases and condtions, I have left the links embedded in the text, or copy and paste the source link at the top.

Here in British Columbia , Canada,  babies screened do also  have there heels pricked and the blood placed on the filter paper than sent to the newborn screening lab at BC Children’s hospital. This is also where PKU patients send there home monitoring phe blood dot tests. We use the same filter paper as the babies.  For PKU we get our blood phe level back within or around 10 days. Babies screened for at birth can take up to 2 weeks depending where in BC they live. Once a test comes back positive, a phone call is made to the family and they are sent to BC children’s hospital for further testing, education , support , treatments and more.

I am sad to say newborn screening is not mandatory in all provinces, or even in all countries around the world. So like I said in my previous post, it is the job of the health care workers, doctors, nurses , social workers ect ect to educate new parents on the importance of newborn screening. But as well , it is also our job! each and every single one of us, dont wait till its to late.

Newborn screening saves lives, and it saved mine. Please be sure to educate your friends and your family. This is such an important message.

Thank you,

Amanda

As many of you may know, September is Newborn Screening awareness month!

Many people do know what newborn screening is or what it does until there child is diagnosed with something.  Many people just know it as the heal poke test.  it is my goal for September to educate as many friends and followers as I can in what it is, what it does, and why it is important. It saddens me to hear how many parents wish they could denies newborn screening to save their baby from the “pain” or “torture” or just from being “poked and prodded” so much after birth. specially if the birth is traumatic.  As a nurse and a women with PKU I feel that education is so important and should be apart of birthing and pregnancy education. I wish all nurses, doulas and mid wife’s would include it in the education and support for new mom’s.

With out newborn screening, and with out being able to detect many of these genetic and metabolic diseases, my life and many life’s would be effected to so negatively. People with PKU would not have the quality of life that we do now, we would be mentally retarded , and or institutionalized. to think that mental retardation is one of the best outcomes in a child not screened at birth is scary. Because there are diseases that are screened for at birth that if treated can lead to a healthy baby but if not diagnosed and not treated , could lead to infant death!!

Here is some important information about new born screening, please feel to pass this blog post on to your friends and family to help spread awareness and education.

What is newborn screening?

A:  Newborn screening is a public health program designed to screen infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period. Some of the conditions included in newborn screening programs are only detectable after irreversible damage has been done, in some cases sudden death is the first manifestation of the disease.

Is newborn screening free or do I have to pay for it?

A;  Newborn screening is covered in Canada by the government and is no cost to the family. It is covered by medical. Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the jurisdiction. The number of diseases screened for is set by each jurisdiction, and can vary greatly

How is newborn screening done?

A: Most newborn screening tests are done by measuring metabolites and enzyme activity in whole blood samples collected on specialized filter paper, however many areas are starting to screen infants for hearing loss using automated auditory brainstem response and congenital heart defects using pulse oximetry. Infants who screen positive undergo further testing to determine if they are truly affected with a disease or if the test result was a false positive. Follow-up testing is typically coordinated between geneticists and the infant’s pediatrician orprimary care physician.

When did Newborn screening start?

A;  Newborn screening debuted as a public health program in the United States in the early 1960s, and has expanded to countries around the world, with different testing menus in each country. ( fact: Babies born with PKU before newborn screening are mentally retarded and some live in group homes. After newborn screening was started doctors and scientists went back and re tested some of the mentally retarded patients and discovered they to had PKU)

What was the first disease screened for by newborn screening?

A :  The first disorder detected by modern newborn screening programs was phenylketonuria

Who discovered newborn screening?

A:   Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guthrie also pioneered the collection of blood on filter paper which could be easily transported, recognizing the need for a simple system if the screening was going to be done on a large scale. Newborn screening around the world is still done using similar filter paper.

What was the second disease screened for with newborn screening?

A;  Congenital hypothyroidism was the second disease widely added in the 1970s. Robert Guthrie and colleagues also developed bacterial inhibition assays for the detection of maple syrup urine disease andclassic galactosemia.

How many diseases does newborn screening sceen for?

A: The number of diseases screened for at birth varies from country to country. Here in Canada we screen for many of the detectable diseases, however not all of them!

The common diseases screened for are :

Amino Acid disorders such as :

phenylketonuria

Fatty Acid oxidation disorders such as :

Medium chain acyl-CoA dehydrogenase deficiency (MCADD)

Endocrinopathies disorders such as : 

congenital hypothyroidism

congenital adrenal hyperplasia (CAH)

Hemoglobinopathies disorders such as :

sickle cell disease.

Organic acidemias disorders are screened for 3 weeks after birth through the urine and include :

propionic acidemia

methylmalonic acidemia

isovaleric acidemia.

Newborn screening also screens for Cystic Fibrosis.  Cystic fibrosis (CF), also known as mucoviscidosis, is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions.

Note : While I was admitted to BC Children’s hospital as a youth for my high levels, I was on the floor with some of the CF patients and made many good friends, including my friend Sara who was so dear to me and we bonded , she was my inspiration to get better and to look after myself. Sara passed away at age 20 in 2006. It broke my heart to loose her and I will miss her forever. RIP Sara. 

Urea cycle disorders that include :

citrullinemia,

argininosuccinic aciduria

argininemi

  a select few pilot programs are being done in some american states for new born screening of  Lysosomal storage disorders.

Hearing loss is also screened for at birth,

Newborn hearing testing is done at the bedside using transiently evoked otoacoustic emissions, automated auditory brain stem responses or a combination of both techniques.

Congenital heart defects are not included in newborn screening by using a pulse oximiter at the bed side.

Severe combined immunodeficiency are also screened in some states , screening started in wisconsin in 2008  but has not yet been adapted world wide.

Other diseases screened for are :

Duchenne muscular dystrophy (DMD)

Adrenoleukodystrophy (ALD)

These are just some if the diseases and disorders that are screened for at birth, there are many more and not all states and provinces screen for the same disorders.  I hope that one day that all the diseases and disorders that can be detected with new born screening will be mandatory and screened for at birth internationally.

Newborn screening saves lives and saves babies.  it is so nice to see the efforts by others who are campaigning for newborn screening and working hard at spreading awareness. I am so grateful to them all and wish to recognize there hard work by giving thanks and showing my appreciation and by dedicating this blog post to all those who work with newborn screening. With out them and with out Robert Guthrie I would not be the person that I am today. with our with out PKU my life would not be the same.

I also must take note, I do not take credit for the information in this post. much of the information and facts are taken from various websites, and wikapedia.

For more information on new born screening please speak to your doctor or if you a British Columbia resident please visit the following site : http://www.bcwomens.ca/Services/PregnancyBirthNewborns/NewbornCare/NewbornScreeningProgram/default.htm

you can also search newborn screening in google or facebook and come up with many wonderful and informative sources, groups and fan pages.

I apologize if any of the above information is incorrect and if so , please feel free to message me and I will be happy to correct it.

So in conclusion, please educate yourself, your spouse, your children and your friends and family on the importance of newborn screening and always remember newborn screening saves lives! and saves babies!

Yours truly,

Amanda Cosburn CPKU Adult.