Meet Some Of Our Diamonds
This is Jack
At just 12 weeks of age, our son Jack was rushed to the ER with a critically low hemoglobin of 22. At that time we had no idea what hemoglobin was or what that meant. We later found out that a normal high range was 110 - 140 and that every organ in his body was beginning to shut down. We were dangerously close to losing him. This was when Jack received his first-ever blood transfusion. Within a few months, he was diagnosed with Diamond Blackfan anemia at the Hospital for Sick Kids in Toronto. Our life was literally turned upside down. Our normal life became doctor visits, hospital visits, blood transfusions, finger pokes, MRIs, x-rays, ultrasounds, bone marrow biopsies, and more. After one year of this, Jack was put on a steroid trial to see if it could kick-start his bone marrow, but unfortunately for us it did not work. The next step was to check our three other children to see if they were a bone marrow match so we could explore the option of a transplant, yet again another letdown. We felt as if there was no help. Jack would continue to need blood transfusion and nightly chelation therapy for the rest of his life unless a cure was found.
We had always wanted another baby, but we did not want to take the chance of having another child with DBA and we wanted an HLA match for Jack, so we began exploring IVF and PGD. After almost 2 years of meetings, needles, blood tests, medication, injections, etc. we were finally ready to begin the final steps toward having another baby. With the odds stacked against us, we were looking at a 99.7% chance that this would NOT work for us. After so much time, energy, and money, it was likely that our dream of having another baby would not come true.
As we stepped into Dr. Virro's office and sat down in those big comfy chairs I will forever remember the words he said to us "Do you feel like you've won the lottery? Well if you don't you should because you have one healthy matching embryo.” Thank you God for blessing us with this, we now have one final step in the process: implantation. Although we had thus far beaten all the odds there was a significantly high risk of the "procedure" not working but I always say the Lord works in mysterious ways and miracles are all around us. We just needed to take the time to look. On March 19, 2015, at 9:52 PM we welcomed our beautiful little miracle Ben Emmanuel into the world. A healthy, DBA free. 8-pound baby boy. The missing link to complete our family of five beautiful children.
We have stored the cord blood from Ben and a hoping to take Jack for a transplant in the Fall of 2023, Please keep Jack and all our family in your thoughts and prayers.
Share your story, trials, and triumphs with us as every 3 months we would like to add a “diamond's” story.
This is Pascal's
Hi everyone. I’m Pascal Cheung, a DBA patient from Boston but now living in Toronto. I'm currently majoring in environmental biology at the University of Toronto Scarborough (UTSC). As an aspiring environmental biologist living with DBA, I appreciate all aspects of biology. I take prednisone (a corticosteroid) to treat my DBA. This has caused stunted growth, brittle bones, and bloat. While I felt alienated as a kid since my peers didn’t have to go through what I had to, I still made friends who understand my situation. I also took piano and karate classes (the latter to hinder the effects of brittle bones). There’s no amount of gratitude that can express how grateful I am to have such great doctors and friends. To everyone I’ve met, I am eternally indebted to all of you in making me the person I am today.
This is Andie
At just nine weeks old, we almost lost Andie. We took her to the hospital thinking she had a bad case of the flu. The thought she had issues with a valve in her stomach but after some blood work and a chest X-ray they rush her to the Pediatric Critical Care Unit so she could receive a life save blood transfusion. We were told her hemoglobin was 22 and that if we had a hemoglobin that low we would be unconscious or dead.
They said she had an acute hematologist episode that would never happen again, some virus came in and wiped out her counts. However, a week after discharge, her counts dropped drastically. Then, a week later, after completing a bone marrow aspiration, she was diagnosed with Diamond Blackfan Anemia.
Andie underwent a steroid trial when she was a year old but it was unsuccessful and as a result we were told she would be transfusion dependent for the rest of her life.
Andie’s journey with DBA has had many bumps along the road. Due to the fact that she was transfusion dependent, Andie quickly became iron overloaded. As a toddler, she was put on Exjade but was unable to stay on it due to severe side effect. As a result, she was put on Desferal therapy requiring her to have a 12 hour infusion 6-7 days a week to break down the excess iron in her body.
When Andie was 8, we found out that she had stopped growing. She completed the growth hormone deficiency testing and it showed that she wasn’t able to produce the hormones she required to grow. What this meant is that she now needed nightly injections to help stimulate growth as she hadn’t grown at all the past year.
In early 2020, Andie’s doctors wanted to attempt a trial of Jadenu which is an oral chelator to see if her body would tolerate it so she could get off the nightly infusions of Desferal. The trial was successful and Andie was able to take pills instead of a night infusion. However, it after 10 months she started having major side effects and had to return to nightly Desferal infusions.
Around the same time, Andie started suffering from severe stomach pain. She was assigned to the GI team and they did every test they could to figure out what was going on. Due to the severe pain, it was difficult for her to eat and she dropped to 70lbs (over a 20lb drop). At that point they had to put in a nj feeding tube in order for her to get the nutrients she required. She ended up needing the tube for seven months, even having to graduate from grade 8 with it. We were happy she was able to start grade nine tube free!
This past December we hit our biggest hurdle yet. We found out that the chelation therapy (Desferal) was causing her to go peripherally blind. After a number of tests and trials we, and our medical team, came to the realization that the only option we had was for Andie to undergo a bone marrow transplant.
Near the end of May 2023, we moved to Sick Kids hospital, on June 1, 2023 Andie received her life changing bone marrow cells and on June 16, 2023, for the first time in her life, Andie created her own red blood cells and naturally increased her hemoglobin.
Andie will always have DBA, and not just because it is in her genes but because it is part of her and has helped shape her into who she is today.
This is Eric
Eric Polo’s rare blood disorder prevents his body from making red blood cells. Each blood transfusion means another month of life. From almost the moment he was born, Eric Polo has depended on blood donors, and he will rely on them for the rest of his life.
Eric is a grade nine student in Toronto, Ont., a self-described introvert with a passion for Dungeons and Dragons. When his mother, Daphne Flint-Polo, delivered him by emergency C-section 15 years ago, doctors knew immediately something was wrong. His blood had an extremely low level of hemoglobin — the protein in red blood cells that carries oxygen to the body’s organs and tissues. He needed a transfusion right away.
Eric’s blood type is A-positive, but his first transfusions were from donors with an O-negative blood type. O-negative blood can be given safely to any patient in an emergency situation when there is no time to check their blood type. (Even in non-emergency situations, many hospitals in Canada rely exclusively on O-negative and O-positive blood for babies younger than four months.)
Since that first blood transfusion, Eric has had hundreds more, all related to a life-threatening medical condition called Diamond Blackfan anemia. “Eric’s body doesn’t produce almost any red blood cells,” explains Daphne. This rare blood disorder not only affects the ability of the bone marrow to produce red blood cells, but can also cause physical abnormalities — from cleft palate, to defects in organs such as the eyes and heart.
While severity varies from patient to patient, and some are treated successfully with corticosteroids, Eric requires blood transfusions roughly once a month, sometimes more, during day-long hospital visits. And because the treatment causes excessive iron to build up in his body, he spends his nights connected to a special pump to remove it, a process known as chelation therapy.
When Eric was a baby, he received just a portion of a single unit of blood at each visit. Now he receives two units during each of his transfusions, and the amount will increase as he gets older. He passes the long hours at the hospital with his iPad. “I’m into Roman history stuff, history Youtubers and history podcasts,” says Eric. Before a blood transfusion he is typically very tired, and it takes a few days to feel better afterward. “These things take time,” he says matter-of-factly. “I am thankful for what blood donors do. They keep me alive.”
“Really, blood donors are our heroes,” says Daphne. “I get emotional every time I talk about it. Without them, Eric wouldn’t have lived more than a few weeks. He’s probably had more than 200 blood transfusions, so there are more than 200 people who have saved his life.
“Every transfusion gives us one more month together. It gives me one more month with my son, gives Eric’s sister one more month with her brother, and gives Eric one more month to live and laugh and experience his life.” Because of Canadian Blood Services’ donors, Eric can also plan for the future, including career options beyond high school. “If I can’t do game design, I want to do something involving Roman history,” he says.
As the parent of a child with a rare disorder, Daphne has regular contact with families in other countries who are also affected by Diamond Blackfan anemia, or DBA. Recently, as the United States has experienced crisis-level blood shortages, she’s been alarmed to hear of children with DBA in that country having blood transfusions postponed.
Daphne knows that even a short delay for Eric would cause him to be exhausted, and that he would likely experience significant pain from muscle cramps as well. “I can’t imagine saying ‘you’ll get blood soon, I’m not sure when.’ That would just be awful,” she says.
Fortunately, thanks to the incredible generosity of blood donors through the pandemic, Canada has avoided blood shortages like those south of the border. However, we also know that today, new blood and plasma donors are more important than ever to keep meeting the needs of patients.
Daphne made her own first blood donation in March 2022. For most of her life, she was not eligible to donate blood, but qualified after meeting the 110-pound minimum weight requirement. Eric’s sister Charlotte had hoped to donate at the same time, but since her hemoglobin level was too low on the day of the appointment, she plans to try again in June.
Charlotte’s blood type is A-positive, and it amuses her and Daphne to think about the outside chance of Eric receiving blood from his own sister. And Daphne happens to be O-negative, so she’s thrilled at the prospect that as a “universal donor,” her donations could be used for patients going through life-threatening emergencies — just like her own son right after his birth.
Looking back at Eric’s first hours, Daphne also recalls doctors telling her there was a very good chance he wouldn’t survive. But even then, she had a powerful feeling that he’d pull through. And with the help of blood donors, Eric has proved that feeling right again and again. They’ve supported him not only during the regular hospital visits for transfusions, but also during surgeries related to his condition.
For Daphne, navigating a difficult road with Eric has also driven home the amazing power and kindness of community — from the mom-and-baby neighbourhood group members who showed up with meals for months after Eric was born, to the blood donors within Canada’s Lifeline who continually show up for him now.
“How do you thank someone for saving your kid?” she says. “They mean everything to us. They mean the world.”