The Inherited Metabolic Disorders News

Hello everyone- I am happy to introduce myself as this edition’s editor! I would like to thank my colleague, Suzanne Nurse, for her contributions to the newsletter as our previous editor as well as everyone who contributed information, pictures, art and stories- it’s been wonderful learning a little about you all!

-Abby Bennett, RN

Wishing you, your family and friends a very happy new year 2024. My sincere thanks to our metabolic team for all their hard work. We are looking forward to upcoming events you’ll see in this newsletter including the Metabolic Family Workshop- which would not be possible without the help of our team members and family representatives. The theme of this newsletter and our workshop this year is “Moving Forward”. To this end, I am reminded of the inspiring quote "A journey of a thousand miles begins with a single step" - Lao Tzu (Chinese Philosopher). Every day we must make the decision to move forward; to take that first step in our own journey.

Janice’s story on the next page is a strong reminder of what it means to live a life full of challenges and still come up a winner. It’s so wonderful to see how Janice is fully committed to life and celebrating it. My sincere thanks to Averi Nooren, social worker, who provided coverage for Carrie Charter who will be back to our clinic after her maternity leave. We welcome Kevin Belanger, our new clerk for the genetics- metabolic team. Our sincere thanks to Suzanne Nurse for being the editor of previous newsletters and Abby Bennett who edited the current metabolic newsletter. She has done a phenomenal job.

I’m so happy to see the children and adults sharing their accomplishments and their art in this newsletter.

Please save the date for the metabolic family workshop and hope to see you all there on April 26, 2024!

With very best wishes for a happy, healthy and peaceful 2024 for everyone!

Your friend,
Chitra Prasad

Janice Connolly

When I was born in 1953 very few people knew what galactosemia was. London was only about a quarter of the size it is now with a population of about 138,000. I was born at Victoria Hospital and even back then, it was a good hospital because it only took them about two weeks to figure out why I wasn’t doing well as a newborn. One of the doctors recalled hearing something about galactosemia during his training and thought that might be my diagnosis. 

My mother’s doctor had tried just about everything he could think of by then, including a blood transfusion. My parents were concerned I wasn’t doing well to the point where they were concerned I might die. When they got the news that it was galactosemia my father rushed home to tell my mother that they’d be able to bring me home soon and they just couldn’t give me anything with milk.

With galactosemia your body cannot metabolise milk and it can affect the brain and liver, so during those two weeks before my diagnosis, my body could have been negatively impacted by them trying to give me milk. The doctors referred me to a specialist to test my brain functioning during my early school years. 

They took blood samples from close relatives to see if anyone else might have galactosemia. My mother and father both had the recessive gene for galactosemia but my brother didn’t have it. However, my brother Patrick was diagnosed with diabetes when he was 6 so we have both been had our own health struggles throughout our lives. My mother told me once she wanted to be a dietitian- which was good considering both her children needed special diets to stay on the right path. 

When I was three, we moved from London to the Town of Forest, Ontario. Through elementary and high school, I attended special needs classes, called “Opportunity” and “Occupational” classes. Some of my teachers early-on didn’t think I’d ever be able to read well, so I wasn’t given a lot of time to practice. And don’t even get me started on math! I struggle to this day to understand things like credit card statements so I ask family to help me with the things I struggle with. Currently I read at about a grade three level, and I can answer straight forward questions about what I’ve read if it was fairly recent. I remember best what I’ve learned through repetition, like how to read ingredients on food so I can avoid milk products. My mother taught me well!

My parents also ran a restaurant in downtown Forest for many years but I was quite young so not involved much. During those years, a skin sample was taken from my arm which was sent to a hospital in Chicago and they requested that I be brought there but with the restaurant business they weren’t able to take the time away. 

After they sold the restaurant business, my family opened a store down the street and I helped there when I could. I also cared for children at Sunday School, babysat for community members, did light housekeeping and assisted elderly and people with disabilities in their homes. Eventually I was awarded the disability pension, but it was much later.

It was a blessing to have stable, hardworking parents who could help me learn the basic skills I needed and to even set aside some money for me in trust. My mother has been gone for nearly 6 years now but she lives on through all she has taught me. 

I got my driver’s licence when I was twenty-nine, after two tries, and usually take someone with me to navigate. Nowadays, towns have gotten much busier so I only drive in the daytime and mostly in my hometown. 

I have been able to go on vacations with family or friends: to the United States, on a cruise to the Caribbean, and on a bus tour to Mackinac Island. I’ve had so many wonderful experiences and memories. 

What does life look like for a senior who is living independently with a learning disability and is also dealing with the dietary restrictions of galactosemia? After seventy years it’s still a challenge! I’ve got a few go-to’s because they have no milk or milk by-products in them, however I have to keep reading the ingredient labels even on those products because they might start adding milk as a preservative, a lot of companies change their products without notice. When I was a young girl companies didn’t change their ingredients as often so things were easier to keep track of. Lately, there has been a growing number of people wanting vegan diets which increases milk-free products on the market and makes them easier to identify!

Socially, I’ve always felt kind of isolated. I don’t always know what to say in conversations so I tend to spend more time listening rather than joining in. I live in a seniors’ apartment building now and it can be challenging to get to know people when its hard to take part in our building suppers with my dietary restrictions.

At home, in my apartment, I like to try out new milk-free recipes from a book a friend and I bought online. I’ll admit – I like the dessert recipes best!! I have taken up baking as a hobby and really enjoy trying out new recipes. 

Thank you for listening to my story! I have really enjoyed getting to share it with all of you and wish you all the best in your own health journeys! Keep moving forward!

Galactose is a sugar found primarily in human, cow’s milk and dairy products as part of the disaccharide lactose. Lactose is hydrolyzed to glucose and galactose by the intestinal enzyme lactase. The galactose then is converted to glucose for use as an energy source. Free galactose also is present in some fruits and vegetables, such as tomatoes, brussels sprouts, bananas, and apples although not in significant amounts.

Classic galactosemia is the most common and severe type of galactosemia and occurs in approximately 1:40,000-1:60,000 livebirths worldwide. This is what Janice was diagnosed with at just two weeks old.

Infants with classic galactosemia usually present in the first few days after birth after initiation of feedings that contain galactose (like breast milk or cow's milk-based formula)- just like in Janice’s case! 

The most common symptoms of galactosemia that occur in newborns include jaundice, vomiting, enlarged liver, liver failure, failure to thrive, poor feeding, lethargy, diarrhea, sepsis, and loss of nutrients through the kidneys. Infants with classic galactosemia are also at risk for sepsis and cataracts. So you can see why Janice’s parents were so concerned about her after she was born!

Most patients diagnosed in early life remain healthy and are intellectually normal. However, because they are at risk of developing certain health concerns, they need to be monitored by a metabolic specialist and a metabolic dietitian throughout life. Monitoring includes regular clinical assessments, dietary reviews and laboratory evaluations.

Treatment

Canada now provides newborn screening and if galactosemia is confirmed a soy-based formula is given.
The main treatment is lifelong nutritional therapy that focuses on galactose restriction (which usually includes calcium and vitamin D supplements.

Long-Term Concerns

Early treatment usually prevents or resolves the early signs and symptoms of CG, however, despite dietary management, developmental concerns such as speech delay, learning difficulties, growth delays, tremors and poor coordination and osteoporosis might still develop over time.

Inherited Disorder

Galactosemia is inherited in an autosomal-recessive pattern. In every pregnancy where both parents carry the gene, there is 25% risk of having a child with CG and 75% chance to have an unaffected child. This is how it is possible Janice has galactosemia and Patrick, her brother, does not.

Care Specialist

Because people with galactosemia are at risk of developing health concerns, they need to be monitored by a metabolic specialist and a metabolic dietitian throughout life. This includes regular clinical assessments, dietary reviews and lab work.

Chloe’s Snack Recommendations!

Chloe has GSD 1a- which prevents the liver from breaking down glycogen properly- which is necessary to maintain blood sugars. She wanted to share some of her favourite recipes and snack choices!

These snacks are all Galactosemia friendly!

Hardbite Gluten-Free Parsnip Chips
Sensible Portions Veggie Chips
Farm Boy Chickpea Chips
Christie Premium Plus Whole Wheat Saltine Crackers
Catalina Crunch cereals
Sweets from the Earth sugar free cookies and brownies
Nature’s Path Gluten Free frozen waffles Homestyle
Silk Next Milk
Silk Organic Soy Milk (Unsweetened)
Spelt pastas/breads

“Pairing any of these with a protein source is best. Anything "keto" is also great for those times that I am hungry but don't need carbs yet with my eating schedule.”

Chloe’s Chocolate Peanut Butter and “Banana” Smoothie!

Ingredients:
•    1/2 avocado
•    55 g frozen spinach
•    45 g smooth peanut butter (Kraft)
•    1 teaspoon imitation banana extract
•    3 tablespoons unsweetened cocoa powder
•    1.5 – 2 cups unsweetened vanilla almond milk (add amount to obtain desired consistency)

Directions:
1. Blend to desired consistency
2. May add frozen cauliflower or broccoli for more substance or to make a larger smoothie

Serving Size: Entire Smoothie 
(full 2 cups almond milk)
Total Carbohydrates 15.9 g
Sugar 4.4 g
Fat 45.5 g
Protein 17.2 g

Chloe’s Stuffed Pepper Recipe

Ingredients:

•    1/3 cup cooked brown rice
•    ½ cup lean ground beef
•    ½ Roma tomato (diced)
•    1 Red or orange bell pepper (cut off top and clean out seeds)
•    1 tablespoon Romano cheese (any hard-grated cheese will work)
•    1 teaspoon black pepper
•    ½ garlic clove or garlic powder
•    ¼ yellow onion or onion powder
•    2 tablespoons olive oil
•    Fresh parsley, chopped (optional)
•    Fresh basil (optional)

Directions:

1. Preheat oven to 400 F
2. Sauté garlic and onions in a pan with olive oil
3. Add ground beef. Once cooked, turn down stove to medium low heat
4. Add diced tomatoes. Cover and cook until tomatoes are soft and juicy
5. Mix in a small bowl with cooked brown rice
6. Add black pepper, parsley and basil
7. Add grated cheese for taste into mixture
8. Stuff mixture into pepper
9. Drizzle olive oil. Sprinkle with grated cheese on top for a bit of crispiness
10. Bake at 400 F uncovered for 45 minutes to 1 hour or until bell pepper is soft but still sturdy

Serving Size: 1 bell pepper
Total Carbohydrates 21.8 g
Sugar 5.0 g
Fat 34.0 g
Protein 13.0 g

Research and Education:

Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.

Chow AJ, Iverson R, Lamoureux M, Tingley K, Jordan I, Pallone N, Smith M, Al-Baldawi Z, Chakraborty P, Brehaut J, Chan A, Cohen E, Dyack S, Gillis LJ, Goobie S, Graham ID, Greenberg CR, Grimshaw JM, Hayeems RZ, Jain-Ghai S, Jolly A, Khangura S, MacKenzie JJ, Major N, Mitchell JJ, Nicholls SG, Pender A, Potter M, Prasad C, Prosser LA, Schulze A, Siriwardena K, Sparkes R, Speechley K, Stockler S, Taljaard M, Teitelbaum M, Trakadis Y, van Karnebeek C, Walia JS, Wilson BJ, Wilson K, Potter BK.

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

Chow AJ, Pugliese M, Tessier LA, Chakraborty P, Iverson R, Coyle D, Kronick JB, Wilson K, Hayeems R, Al-Hertani W, Inbar-Feigenberg M, Jain-Ghai S, Laberge AM, Little J, Mitchell JJ, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Walia JS, Wilson BJ, Potter BK. Patient. 2022 Mar;15(2):171-185. doi: 10.1007/s40271-021-00538-8. Epub 2021 Jul 20.PMID: 34282509

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients with Pyridoxine-Dependent Epilepsy.

Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium. Neurology. 2022 Dec 5;99(23):e2627-e2636.

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Allen JP, Garber KB, Perszyk R, Khayat CT, Kell SA, Kaneko M, Quindipan C, Saitta S, Ladda RL, Hewson S, Inbar-Feigenberg M, Prasad C, Prasad AN, Olewiler L, Mu W, Rosenthal LS, Scala M, Striano P, Zara F, McCullock TW, Jauss RT, Lemke JR, MacLean DM, Zhu C, Yuan H, Myers SJ, Traynelis SF.Hum Mol Genet. 2023 Nov 7:ddad188. doi: 10.1093/hmg/ddad188.

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.

Almudhry M, Saini AG, Al-Omari MA, Sharma Y, Nouri MN, Rupar CA, Prasad C, Yu AC, Attri SV, Prasad AN. Front Neurol. 2023 Nov 24;14:1265115.

Progressive Neurological Decline Associated with Intracranial Calcification in Down Syndrome; Fahr Disease Mimic?

Almudhry M, Prasad C, Tay K, Debicki DB, Prasad AN. Can J Neurol Sci. 2023 Nov 7:1-2. doi: 10.1017/cjn.2023.309.

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Macintosh J, Perrier S, Pinard M, Tran LT, Guerrero K, Prasad C, Prasad AN, Pastinen T, Thiffault I, Coulombe B, Bernard G. Front Neurol. 2023 Oct 13;14:1254140. 

A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report.

Almudhry M, Prasad AN, Rupar CA, Tay KY, Ratko S, Jenkins ME, Prasad C. Front Neurol. 2023 Sep 15;14:1214137.

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple.

Al Harthy T, Colaiacovo S, Gratton RJ, Coughlin K, Siu VM, Prasad C, Rupar C, Saleh M.Clin Case Rep. 2023 Aug 23;11(8):e7827.

Education:

Dr. Chitra Prasad North American Metabolic Academy Metabolic faculty 2023

Acid Lipase deficiency: Dr. Chitra Prasad, Dr Tony Rupar, Dr Ashok Dhandapani, Samantha Colaiacovo. Oral Presentation at Lysosomal storage disorders conference in New Delhi India December 2023.

#1: Tip: Shift your vocabulary

Replace can’t with can- focus more on the things you can do instead of the things you can’t
Replace restrictions with needs- the more you can accept and honour the things you need the less restrictive they will feel
Eliminate ‘should’ – you don’t need to push yourself, instead ask yourself if something will be helpful or hurtful for you

#2: Tip: Shift your vocabulary

Create a life that makes managing your illness easier going forward- whether that means meal planning or scheduling your life around your energy levels and capacities

#3: Tip: Pace yourself, learn your limits and set boundaries

Learn what works best for you and create your lifestyle based on your needs and boundaries, not on what you “think” you need to be doing- everyone is different and has different needs!

#4: Tip: Seek the right support

Seeking the right support can be challenging, whether it’s finding the right doctor for you or educating friends and family so they can better support you- its not an easy road but it’s worth it to have great supports around you during your journey