Category: News

BC Residents and news, News

BIG PKU ANNOUNCEMENT!!! – PKU NEWS MEDIA RELEASE!

Posted on by Amanda Horner

Ministry of Health

B.C. offers food subsidy for metabolic disorder patients
VICTORIA – Beginning Jan. 1, 2014, patients diagnosed with rare genetic disorders, such as phenylketonuria (PKU), will receive a monthly food subsidy of up to $250 to pay for low-protein foods, Health Minister Terry Lake announced today.
“Patients with PKU and related disorders will now have more support in managing their illnesses,” said Lake. “This food subsidy aims to ease some of the financial pressure associated with having PKU and help patients across British Columbia live longer, healthier lives.”
With about 209 patients being treated for metabolic disorders in B.C., the total cost of this support is expected to be $700,000 per year.
The Provincial Health Services Authority will manage the subsidy program and will continue to supply, free of charge, the metabolic formula that PKU patients need for proper body development. With this announcement, British Columbia joins eight other provinces in providing people with PKU financial assistance for low-protein foods.
“This is fabulous news for the B.C. PKU community,” said Amanda Cosburn, a PKU patient and advocate. “I am thrilled that our voices were heard, and although the journey is not over, this will help many people. I am very excited as this will help me obtain the quality of life and health that I deserve, and will also make my dream of being a mother a possibility. I am so grateful to Health Minister Terry Lake and Canadian PKU & Allied Disorders Inc., as well as all the PKU advocates who have worked so hard to make this a reality.”
“We are thrilled the Ministry of Health will provide access to one more medically necessary treatment for PKU, which will improve the health outcomes of many patients,” said Nicole Pallone, vice-president of Canadian PKU and Allied Disorders Inc. “This is the biggest enhancement to the health care of B.C. PKU patients since the implementation of the newborn screening program back in 1964, and will allow patients to better protect their brains from damage. I sincerely thank Ministers Terry Lake, Bill Bennett and Steve Thomson for their continued support, as well as everyone who joined CanPKU in advocating for this necessary treatment.”
People with PKU and related disorders cannot break down the amino acid phenylalanine, which is a component of protein. They are therefore unable to eat foods such as meat, chicken, fish, eggs, nuts and dairy products.
Specially modified, low-protein breads, pastas and other foods, along with fruits and
vegetables, make up the diet of a metabolic disorder patient. These modified foods can be very
expensive.
If not screened for and properly managed from birth, PKU and related disorders can cause
severe intellectual disabilities and restrict brain development. B.C. screens every child for PKU
right after birth to lower the risks of the condition.

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BC Residents and news, News

Protein as Pain- By Dale Bass in “Kamloops this week newspaper”

Posted on by Amanda Horner

PROTEIN AS PAIN

Posted by: Dale Bass in Lifestyles 3 days ago 0 63 Views

Amanda Cosburn had scrambled eggs recently.

At age 27, it was the first time she had ever had them — but, given their expense, it won’t be happening often.

Cosburn has phenylketonuria (PKU), a long name for the disease that is screened for in newborns with a poke into their heel and a blood test. Most tests come back negative — hers didn’t.

“It takes two weeks to get the results and, when they got mine, they called my mother and told her I was mentally retarded and to take me to B.C. Children’s Hospital right away.

“My mom was only 20 years old and she was met at the hospital by this whole team of doctors.”

There, Cosburn’s parents learned the truth she has lived with. PKU is a genetic disorder that can be managed but not cured.

Boiled down to the simplest explanation of what is a complex biological process in the body, people with PKU must limit their intake of protein. That means no meat, dairy, seafood, legumes soy or tofu. Fruits and vegetables are okay, depending on how they are processed.

The bodies of people with PKU cannot handle phenylalaline, an amino acid found in foods that can be toxic to the brain and lead to a variety of conditions.

Treatment involves a special liquid formula, which Cosburn drinks throughout the day, and a restricted diet. Prepared foods for people with PKU are available but are expensive — a box of nine small pizza balls costs $24 while a bag with nine tiny bagels costs $19, for example.

Specially prepared pasta in a bag not bigger than what most people might buy at their grocery store, costs $9 and a baking mix Cosburn relies on to prepare food each week is $55.

A third prong in the treatment is a drug called Kuvan, one that was approved by Health Canada in 2013, by the U.S. Food and Drug Administration even earlier and available in Ontario, Saskatchewan and Quebec — but not B.C.

“This is really confusing for me,” Cosburn said, “We’ve been told research has not been proven but B.C. gets the same information as other provinces that have approved it.”

Cosburn has spoken with her MLA, Health Minister Terry Lake, and she said he’s been sympathetic to her issue.

When contacted by KTW, Lake’s ministry office in Victoria emailed his response.

It noted the province relies on the Canadian Agency for Drugs and Technologies in Health and the B.C. Drug Benefit Council when making decisions on drugs to approve.

The ministry, after receiving input from the two bodies “recommended against provinces covering this drug because of unclear benefits and high drug costs. The annual cost per patient for the medication can be as much as $180,000 per year for an adult, depending on dosing and the patient’s weight, and the available clinical research does not show clear benefits,” the email noted.

Access to the drug would make life easier for her and reduce her food costs, Cosburn said. And, it might go a long way to helping her with her dream of having a child of her own.

To do so, living with PKU, would require monitoring the presence of the amino in her body, keeping it to a level best described as a one or two for six months before conception, during a pregnancy and during nursing.

Given the unpredictability of conception, in essence it means keeping the level that low all the time, something that isn’t easy to do. Often, particularly when she hasn’t enough money to pay for the prepared foods, that level rises to anywhere from eight to 11 in Cosburn’s body, she said.

And, she’s aware she runs the risk of giving birth to a child with PKU.

Cosburn’s childhood was difficult. She was removed from physical-education classes permanently in Grade 6 because of fear muscle development would elevate the level of protein in her body and raise the amino level.

Lunch was four crackers with some jam, some applesauce and a thermos of the formula she lives on.

To go to a restaurant with her partner, Cole Rickett, requires calling ahead of time to ensure the few foods she can eat are prepared properly and, even then, she tends to simply order mashed potatoes and grilled vegetables.

Even then, however, she has to order child-sized portions because the more food, the greater the presence of proteins.

One large potato, for example, can have eight grams of protein and Cosburn needs to restrict her entire daily protein intake to no more than five grams. Anything more than one-quarter cup of corn also exceeds her protein -consumption limit for the day.

She’s speaking out for many reasons. She wants the government to approve the drug and she wants people to see that it is possible, although expensive, to live a healthy life with PKU.

She’s speaking out because she spent many of her teen years in hospital because she didn’t stick to the diet and she wants young people with PKU to understand how important it is to stick to the rules.

But, in the end, she’s speaking out because of a moment during her nursing studies in Vancouver when she discovered the only exposure she and her classmates would receive on the disease was one paragraph in a textbook.

“I was mad when I saw that. That wasn’t good enough for me. So I did a report on it for the class and decided I had to keep speaking out

2013-10-25 03.14.55

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BC Residents and news, News

Kamloops Daily News- from september 20th 2013

Posted on by Amanda Horner

viewer

 

Here is the article that appeared in the daily news last week. I wanted to share this with my followers as I felt it has some very good points. However I wanted to let you know, I was not interviewed for this article and the quotes where taken from my blog. Some taking out of context. My pain that I spoke about, I do not feel is because of my PKU. To be clear, the chronic pain I feel in my back and sciatica nerve damage is from a car accident in 2008. I was struck by a car while I was walking my bike to a cross walk. It left me with permanent damage. I have numbing from my waist down, through my left leg and into my left foot. I also have a preferated disk at l5-s1. With chronic pain and fibromylgia. I was told my pain would never go away fully and that I would have to give up my nursing career. The pain took over my life and ran my life for many years. Over the past year I have fought hard to re gain control of my life and heal more fully. I feel like I have come along way but some days are harder than others. This last month was particularly hard, as well as the summer with working many more hours than my body is use to and adjusting to different shifts specially the night line. I also didn’t keep up with my treatments and physical activities. It was hard to stay on track while trying to focus on my levels and maintaining my phe levels while working nights and being tired all the time. I am however starting back on track over the past few weeks and the pain is slowly getting better again.  For my pain I take gabpentin daily, and for breakthrough pain i take tramadol, and Motrin. My doses use to be quit high but over the last year i was able to cut them sometimes lower by half, however they have crept back up, and  would like to lower my doses again and am making that my goal.

 

In response to the article in the kamloops daily news, I wrote a letter to the editor. I am very grateful to the kamloops daily news for taking the time to publish my story and really hope to do a live interview with them in the future to really have my voice heard and my message to be clear.

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CanPKU, News

CanPKU Media Release!!! Saskatchewan follows Ontario’s lead in funding brain-protecting treatment;

Posted on by Amanda Horner

Saskatchewan follows Ontario’s lead in funding brain-protecting treatment;

B.C. continues to lag far behind

– Other provinces urged to provide Kuvan as an option to treat Phenylketonuria (PKU) –

 

Saskatoon, SK – September 17, 2013— Canadian PKU and Allied Disorders (CanPKU) is pleased to learn that Saskatchewan has joined Ontario as a province that has approved Kuvan (sapropterin dihydrochloride) for reimbursement through its public drug program. Now, patients in the remaining provinces are urging their elected members to follow their lead and fund Kuvan – the first and only Health Canada approved drug therapy[i] for Phenylketonuria (PKU) – as an option to protect patients against this rare, brain-threatening inborn metabolic disorder.

 

“We are delighted that Saskatchewan has decided to fund Kuvan, joining Ontario as a province that trusts in the available evidence for this treatment and understands the importance of protecting patients’ brains from this devastating condition,” says Nicole Pallone, from Sparwood, B.C., who is vice president of CanPKU and mother to a five-year-old daughter with PKU. “We look forward to congratulating B.C. and the remaining provinces in the near future, as we are hopeful that they, too, will commit to raising the bar of PKU care to national, and international, standards and best practices.”

 

B.C. remains the worst province for PKU patients

While Saskatchewan agreed to cover Kuvan in September 2013, after Ontario led the way seven months prior, B.C. is the only provincial government to walk away from negotiations with the drug’s manufacturer. Over the past four years, over 20 meetings and phone calls have taken place between government officials and relentless CanPKU advocates, who continue to tirelessly pursue additional support to improve patient health outcomes.

 

B.C. remains the worst province in Canada for access to PKU treatments, as the only public funding that B.C. PKU patients receive is for special low-protein formula,[ii] which has formed the basis of the complicated and highly-restrictive PKU diet for the past 50 years. [iii] All provinces, including Saskatchewan, provide at least some access to medical foods for PKU patients – a key treatment necessary to prevent devastating neurocognitive, psychiatric and physical symptoms caused by the disease. However, B.C. only provides the bare minimum of coverage for the medical foods necessary to manage PKU – a nominal $40 monthly stipend, available only to PKU patients on social assistance.ii

 

Question of inequity raised as Kuvan access varies across Canada

Depending on the province, patient access to publicly-funded treatment for PKU through provincial drug programs is varied – raising a question of inequity amongst PKU families across Canada. In addition to Ontario and Saskatchewan, the Quebec government funds Kuvan on a case-by-case basis for women with PKU in the province who are pregnant or plan to become pregnant.[iv] 

 

“For anyone living with PKU, including adult patients who are hopeful mothers-to-be like me, it is extremely important that we have access to all available medications, such as Kuvan and medical foods,” says Amanda Cosburn, a nurse who lives in Kamloops with her partner, Cole. “We encourage the B.C. government to take note of how other provinces are supporting PKU patients and fund these essential treatment tools to ensure that the brains of adults, adolescents and children – including our unborn babies – are protected.”

 

Causing added concern and confusion for patients is that the B.C. government does fund Kuvan for two uses not indicated by Health Canada. The province funds Kuvan to treat BH4 deficiency (originally called malignant PKU), and as a diagnostic tool to determine whether newborns with high Phe levels have PKU or BH4 deficiency.

 

To date, Kuvan is publicly funded and accessible to patients with PKU around the world in countries such as Germany, France, Italy, Spain, Greece, Netherlands, Austria, Norway, Slovakia, Denmark, Belgium,[v] the United States, Japan and Switzerland.

 

About PKU 
PKU (phenylketonuria) is a rare inherited, brain-threatening metabolic disorder, observed when the body is unable to process phenylalanine (“Phe”), an essential amino acid found in dietary protein. The resulting accumulation of Phe in the blood is toxic to the brain, and if left untreated, symptoms can range from mild cognitive impairment to severe mental retardation. Approximately 1 in 12,000 to 15,000 infants in Canada is born with PKU.  All provinces and territories, including B.C., offer newborn screening tests to determine if a child is born with PKU.  If PKU is detected, the appropriate treatment must be initiated immediately and maintained throughout life to ensure normal brain development.

 

About Canadian PKU and Allied Disorders Inc.
Canadian PKU and Allied Disorders Inc. is a non‐profit association of volunteers, dedicated to providing accurate news, information and support to families and professionals dealing with PKU and similar, rare, inherited metabolic disorders. Our mission is to improve the lives of people with PKU and allied disorders and the lives of their families. By allied disorders we mean other rare, inherited metabolic disorders also detected by newborn screening. For more information, visit www.canpku.org and download our comprehensive resource for patients and families, PKU and the Brain.

 

Please join the conversation!
CanPKU on Twitter
CanPKU on Facebook
CanPKU on YouTube

 

‐30‐

 

For more information, please contact:

 

Beth Daniher
Cohn & Wolfe

416-924-5700 ext. 4070

beth.daniher@cohnwolfe.ca

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News

A letter to my co-workers

Posted on by Amanda Horner

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 26th 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 

 

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News

Newborn screening awareness month part 2

Posted on by Amanda Horner

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 )

 

Argininosuccinic Acidemia (ASA) – Amino Acid Disorder

ß-Ketothiolase (BKT) Deficiency – Organic Acid Disorders

Biotinidase Deficiency

Carnitine Uptake Defect (CUD) – Fatty Acid Oxidation Defect (FAOD) 

Citrullinemia – Amino Acid Disorder

Congenital Adrenal Hyperplasia (CAH) – Endocrine Disorder

Congenital Hypothyroidism (CH) – Endocrine Disorder

Cystic Fibrosis (CF)

Galactosemia

Glutaric Acidemia Type I (GAI) – Organic Acid Disorder

Hemoglobinopathies : Sickle Cell Disease (HbSS, HbSC or HbS/ß-Thalassemia)

HMG-CoA Lyase Deficiency– Organic Acid Disorder

Homocystinuria – Amino Acid Disorder

Isovaleric Acidemia (IVA) – Organic Acid Disorder

LCHAD Deficiency – Fatty Acid Oxidation Defect (FAOD)

Maple Syrup Urine Disease (MSUD) – Amino Acid Disorder

MCAD Deficiency – Fatty Acid Oxidation Defect (FAOD)

3-Methylcrotonyl-CoA Carboxylase (3MCC) Deficiency – Organic Acid Disorder

Methylmalonic Acidemia (MUT, Cbl) – Organic Acid Disorders

Multiple Carboxylase Deficiency (MCD) – Organic Acid Disorders

Phenylketonuria (PKU) – Amino Acid Disorder

Propionic Acidemia (PA) – Organic Acid Disorder

Trifunctional Protein (TFP) Deficiency – Fatty Acid Oxidation Defect (FAOD)

Tyrosinemia (Type I) – Amino Acid Disorder

VLCAD Deficiency – Fatty Acid Oxidation Defect (FAOD)

Severe Combined Immune Deficiency (SCID) 

 

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

1
News

September is newborn screening awareness month!

Posted on by Amanda Horner

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.

 

1
News

Bringing home Charlie

Posted on by Amanda Horner

Many years ago I met a inspirational Young Lady on the Message Forum PKUboard.info , Her Name was Breanna Hardy. We kept in touch over the years and have become online friends. When I joined Facebook in 2005 I was able to add all my friends from pkuboard and my network and my friends grew from there. Since meeting Breanna I have had the pleasure of following her family and eventually meeting her mom Michelle. I feel like over the years I have really gotten to know the Hardy family and have been privileged to be apart of their online family. Michelle and her Husband Bradly are very active in the PKU community and  have 9 children. 3 of their girls have PKU.  Breanna, Erica and Genavieve.  The Hardy family have some exciting news , once again, the hardy family are opening their hearts, and their home and  they are in the process of adopting a international baby boy with PKU. Who they have named “Charlie”

The Hardy family had not expected to find a baby so soon with PKU. In fact the agency told them that it would be nearly impossible , and it could take years.  The Hardy family had a financial plan in place to raise the money to adopt a pku child in the next year or so. However God works in mysterious ways, and their prayers have been answered. The agency has found them a child. 21 month old “Charlie” with PKU. So now the time frame has been drastically moved up and the family is stuggeling to raise the money to bring charlie home. They have started a fundraising page to raise the money to bring home Charlie. I was so touched by their story and wanted to do something to help bring attention to their story. . So I arranged an interview with Michelle in hopes by sharing their story we can generate some awareness and help make their dream of bringing charlie home a reality.

This is the interview with Michelle.

 

 

Amanda:

Good morning Michelle, Thank you for meeting with me.  So I thought we would start with some back ground information. For instance, can you tell me about your husband and yourself ,  how you met? when you got married how long have you been married and some details about your family. Like did you always want a big family.

 

Michelle :

Brad and I met in the 7th grade. We were in the same homeroom and our lockers were close together. He was very quiet and very reserved, and other than being friends I couldn’t imagine him ever being my boyfriend. In the 9th grade he got up the courage to ask me to dance at a school dance and I will never forget how sweaty his neck was (it is funny now to think about what I remember). After that I thought he didn’t like me and life continued. In the 11th grade he finally started to walk me home and the rest is history. We were married nine months after we graduated from high school and have been married for 25 yrs. As far as family…..we always said we wanted lots of kids, but to us five was a lot. After we had Breanna I was so devastated by her diagnosis of PKU I couldn’t imagine EVER having another child. I cried for her entire first year of life, but then as with anything PKU became easier and easier and that all changed. After our fifth we just kept the possibility open to having more children join our family. After our 7th child, Faith I really never wanted to be pregnant again (pregnancies were not kind to me and were filled with being sick from morning until night from the beginning of the pregnancy until I gave birth). We changed our minds when Faith was 5 yrs old and then it took us 1 1/2 yrs to get pregnant with Genavieve and then Brennan was our bonus baby because I conceived him when Genavieve was 9 months old.

 

 

Amanda :

when did you first consider adoption and why?

 

Michelle:

We had always talked about adding to our family through adoption, but I didn’t want to pursue it while there was still a possibility of having biological children. I was terrified of coordinating travel, a new child and being so sick. So we always talked about it, but it was put on the back burner. Each time a child would come up on the PKU Listserve the conversation would come up, but we thought we were too old and couldn’t afford it.

Then a few weeks ago the conversation came up again and we seriously sat down and discussed it and decided this was the path we were meant to travel. As far as why I want to adopt….. first of all I love my children and I would have had more had my pregnancies weren’t so awful. Age also played a factor in my decision to not give birth anymore. While I know women who give birth much older than I am I just couldn’t do it anymore.

 

Amanda:

While you where talking about adoption did you think about if you wanted a boy or girl or did it not matter? did you think about race and culture? did you have a country in mind you wanted to aopt from? or did it matter where? also how did you decide on these answers?

 

Michelle:

We didn’t care where the child came from or what his/her race was. We originally talked about a girl because in our minds there would be more females out there to adopt, but after talking to the agency we realized that there are actually more boys waiting. So we thought we were going to have a girl and then when the agency contacted us and asked about a boy instead I knew it didn’t matter especially because I viewed this like I did my pregnancies….it really didn’t matter. One thing that ddid happen that I never expected was how my husband cried when I asked him if he wanted a boy instead. It was tears of happiness because as you know we have seven daughters and two sons. The only thing that really mattered to us was PKU. We knew we wanted a child with PKU.

The adoption agencies tried to match us with other disorders, but I knew that wasn’t right for us. We knew we wanted a child younger than your youngest. We were very open to whatever country and race. We wanted a child with PKU because we knew they would be harder to place and we have life experience with PKU. We know we can provide the care a child with PKU needs because we have done it before and are doing it.

 

Amanda :

when did you decide to involve your other children in your decision? what did you tell them?

 

Michelle:

They always new it was a possibility but when we seriously started talking about it we involved them immediately because this child will be their sibling. I was never good at holding off when I was pregnant either. They knew immediately after I told my husband. As far as what we told them they were there when we were discussing it so they heard their dad and I talking about it.

 

Amanda :

when did you first apply to adopt? what was the application process like?   how did you research agencies and when you found one how did you decide it was the right one for you and your family? did you go through the ministry ? or government?

 

Michelle :

I actually started out looking online for agencies. It was all confusing and overwhelming. I started to call them and was highly disappointed because many told me they didn’t think they would ever find a child that met my requirements. On Thursday of last week I cried and cried (I was at my office) and before I left finally just told God that it was in his hands and if it was meant to be he had to make it happen. I went home, told my husband the disappointing news and cried some more. The next day I had to pick up some stuff and do some copying at my office. I took the kids with me and my husband went along too because he had some work to do there for me. It was while there that I got the call and the agent told me about this little boy, texted me a photo because I didn’t have a computer to look at his profile. I cried and ran to my husband with the photo and he said definitely yes. So the agency found us really.

 

Amanda :

what has the process for adoption been like? both legally and emotionally? how much does it cost? what do the fees provide? and what is the next steps in your process?

 

Michelle:

Emotionally I am a wreck because I am so nervous, but since it has only been since last Thursday very scary too. It is moving way faster than I thought. It will cost us between $30,000-40,000. This will provide us with everything we need to bring our child home including our travel to get him. Right now we are going over the contract and are drawing up a letter of intent and doing the paperwork process. We have to do a home study as well. There is a lot to do and right now it feels overwhelming. I just got a list of 7 things I need to do over the next few days.

 

Amanda :

Sounds very overwhelming and exciting! Thank you Michelle, My next group of questions are specific to Charlie.

 

Amanda :

what where your first thoughts when you saw charlie? and how did you decide on a name? was it already his name? I know you have your kids names following the alphabet? is that something you decided on or more just happened?

 

Michelle:

I immediately thought he looked a little bit like my youngest son Brennan and I cried. The name was something my husband decided on. He has a different name, but we can’t disclose that.  I don’t want to do anything to chance the agency dropping us. Also Charles was next in alphabetical order.  Yes we opted to do the names in alphabetical order. It didn’t start out that way but when we saw the pattern we continued it.

 

Amanda :

Just to expalin, Michelle’s  Girls names range from the Olderst Girl with a an “A” name , and her youngest Girl is a “G” name. Michelle Currently has 2 boys, The Oldest boy is an “A” name and her youngest Son Is a “B” name, then there will be Charlie!

 

Amanda:

Charlie is an international adoption, Are you and your family planning on learning about his culture and bringing it into your family and every day life?

 

Michelle :

We are hoping to learn about his culture and incorporating it into his life, but I don’t know what that will look like right now. When we pick him up we will spend two weeks in the country.

 

Amanda :

Charlie also has PKU, Do you know if he has been treated since birth or , if he is a late diagnosis do you know if he suffers from any side effects?

 

Michelle :

He has been treated since 10 months, but I am not sure what the treatment consists of and how good it is because he only had one level taken and that was at ten months. I am sure there will be side effects.

 

Amanda:

You and your family are so brave! I really admire you for what you are doing.  My next group of questions are more specific to Charlie and his PKU.

 

Amanda :

Have you talked to your PKU clinic staff about your pending adoption? have they been supportive?  how long after charlie comes home will be be going to clinic and begin treatment?

 

Michelle:

No I haven’t talked with them, We plan on contacting them as we get closer and the plan is to make sure we have formula on hand for Charlie when we bring him home, will do his blood test when he gets home and hopefully will be seen in the clinic right after his return. My goal is to do the test, get the results and be seen in the clinic immediately.

 

Amanda :

What testing will charlie have to undergo to determine course of treatment and his tolerance? Will you be able to  pick his formula or will the clinic?  I assume since he is 1 he is eating some solid foods?

 

Michelle:

The clinic will have to determine the testing but I am guessing it won’t be any different than what the girls went through (finger sticks, estimating and changing the diet as needed). Since the girls are on Kuvan my husband and I will have to discuss this option for Charlie as well.  As far as formula we have to see what he is on now and if it compares to anything we have here. We want to make the transition easy for him, so we will see what formula he ends up on. We will probably do like we did with the girls at that age … taste tests.

 

Amanda :

How does having 3 daughters with PKU prepare you for caring for Charlie? Do you know that as a little boy with PKU If Charlie will  face different challenges then your girls?

 

Michelle:

I honestly don’t know if challenges will be different for him, but I believe living with PKU for 22 yrs gives us a lot of knowledge to work through whatever challenges come our way. To me this is no different than when I had our biological children…there are no guarantees in life and we figure it out as we go along with the knowledge that we have.

 

Amanda :

Great answer! How involved will your children be in charlies care and what can they do to best support him?

 

Michelle:

They will be as involved as they are right now with their other siblings based upon where they are at in their lives. He will be their sibling just like they all are to each other.  With kids ranging in age from 25 yrs down to 3 yrs there is a huge difference in what they contribute.

 

Amanda:

Yes for sure! Do  you plan on telling Charlie he is adopted? and when and how do you plan to do that?

 

Michelle:

He will definitely know he is adopted and something that will be incorporated from the start. Kids like to hear the story of how they came to be adopted or biological. His story will be his own and he will know it just like the others know their stories.

 

Amanda :

Aww, so true! what are your hopes and dreams for charlie are they the same or different for your hopes and dreams for all your children?

 

Michelle:

They are the same as all of my other kids. I hope and pray they grow up to be happy and productive individuals.

 

Amanda :

I can tell that you are a wonderful mother, and you have a wonderful family. Charlie is very lucky to have you. All of your children are lucky to have you and Bradly for parents!

 

Michelle:
 Thanks. I just hope we can get him here. It will definitely be a journey!!! My husband keeps telling me that now I know how an expectant dad feels. *Laughs*
Amanda:
Is there anything you would like to add about your fundraising efforts?
Michelle:
As far as fundraising we are doing it because when we went into this we thought that it would take a long time to be matched with a child. That is what you hear all the time. We had a plan to raise the money through working, etc and it happened way too quickly. Again my husband laughs and says just like everything else in our lives because when we would start to talk about getting pregnant and had a plan in place to start in a year or months later I always turned up pregnant that month.
Amanda :
aww well, I  wish you the best of luck and will be following your journey closely. would you be interested in doing a follow up interview after charlie is home?
Michelle:
 Definitely. Then I can share photos too! Ohh, and  I forgot to add that Charlie isn’t the only person with PKU needing to be adopted!! I know of three more in the country he is in.
Amanda :
Thank you for taking the time to do this with me. I hope it will help create awareness for your situation and help raise donations for you . May god bless you and your family.
Michelle :
Thanks for doing it!
If you would like more information or to to make a donation to help bring Charlie home to his Family, please visit the fundraising website : http://www.youcaring.com/adoption-fundraiser/help-us-bring-charlie-home/72801
Thank for reading! My thoughts and prayers are being sent out to the Hardy family and I cannot wait for Charlie to come home! I am so blessed to call the Hardy family my friends. I really admire them and all that they do for their  children and the PKU Community.
Amanda Cosburn
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Low pro food / cooking, Managing the diet, News

PKU medical Treatment Coverage in Canada.

Posted on by Amanda Horner

There has been alot of discussion lately regarding coverage of our low protein medical foods , and formula across Canada. Every province seems to be very different.  Despite our reputation for universal care in Canada, we are lacking in the treatment of PKU. Though British Columbia has a faling grade on the report card for access to treatments.  As i mentioned in my post about the seminar I attending this past weekend, Ontario is now providing coverage and aces to KUVAN and Saskatchewan is rumoured to be following next. 

Kuvan was approved my Health Canada in 2010 and is being used in many countries around the world and even some provinces here in Canada. The BC Children’s clinic is currently using it in the treatment of children in a study. Also there is the 106 study of its effects on depression , anxiety and cognitive functioning. 

in 2012 Canadian PKU and Allied Disorders put together a summery of the coverage in Canada. Nicole Pallone has graciously shared that list with me and it as follows: ( This list does not include KUVAN Or LNAA therapy. ) 

 

British Columbia :

Any formula recommended by clinic dietician is covered for anyone with valid Provincial
Health Care; shipping is covered for patients not located in Lower Mainland. No low
protein speciality food coverage. Product available from the Special Product Distribution
Center (located within BC Children’s hospital). $40 monthly stipend for low protein foods available to those on welfare.

 

Alberta:

Formula and variety of speciality foods are covered for anyone with valid Provincial
Health Care, shipping is not covered. Items are stocked within hospital. Cambrooke
Foods products are available to patients, orders placed through clinic and shipped to
door. Currently, “new” CBF items are not covered.

 

Saskatchewan:

Formula and approved foods are covered for ALL patients with valid Provincial Health
Care. Patients order formula directly from Speciality Food Shop and low protein foods
from National Food Distribution. Shipping is covered for all orders. Adult patients are
referred to AB or MB for follow-up care, although still receive formula and food from SK.

Manitoba :

Formula is covered to anyone with valid Provincial Health Care, shipping covered to
those not living in clinic area. Patients are responsible for ordering foods directly from
manufacturer or 3rd party; clinic does not stock/order foods. Allowance is provided by
Children’s Special Services for speciality foods. (up to $180/month for ages 1-12 years
and up to $250/month for ages 12-18 years) No allowance for adults (18+ years of age)

 

Quebec :

Formula and variety of speciality foods are covered for anyone with valid Provincial
Health Care; shipping is covered for those not able to pick up from CLSC clinics, located
throughout Quebec, orders are processed at time of patient request to National Foods.
A $1500 annual allowance to order Cambrooke Foods. Product is delivered to CLSCs and
patients are required to pick up same day.

 

Ontario:

Formula is covered for anyone with valid Provincial Health Care. Many low protein
products are covered (as approved by the Special Advisory Committee), and available
through the Speciality Food Shop, http://www.specialtyfoodshop.com. Speciality Food shop is
also available to non-Ontario patients with a metabolic disorder. Shipping is free within
Ontario – Out-of-Province & express shipping charges apply.

 

New Brunswick :

Formula and variety of speciality foods are covered for anyone with valid Provincial 

Health Care, shipping is covered. Speciality food coverage is limited to staple items only
(bread mixes, flour, pastas) and shipping is covered.

 

Nova Scotia:

Formula is covered for anyone with valid Provincial Health Care, local patients are
required to pick up and for out of area patients, shipping is covered. Staple items are
available (pasta, baking mixes, cracker toasts, rusks) Patients can order other products
from National Distribution through clinic, but are responsible for charges.

 

Newfoundland
and Labrador:

Formula is covered for anyone with valid Provincial Health Care up to age 18 years,
shipping is covered. Only 2 formulas have been approved for coverage (Phenylfree &
Phenylade). Staple items (pasta, bread mixes, pizza shells, Ener-G cheese) are available
to patients up to 18 years of age and shipping is covered.

 

Prince Edward
Island:

There are no PKU clinics in province, but patients are seen by regular dieticians and
family doctors; clinic visits in Nova Scotia. Formula is covered for anyone with valid
Provincial Health Care up to age 18 years. There is no specialty food coverage, patients
are able to order speciality foods from Nova Scotia clinic but are responsible for all
charges.

 

As you can see we had alot to do to obtain universal standards in Canada. It is my dream to see coverage for all treatments across Canada. So we are fighting. One province at a time. 

 

 

 

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