Meet Reed! He is truly the definition of a superstar, always being an amazing big brother to his little sister Ruby. He recently accomplished an amazing milestone - having the strength to reach and turn a doorknob! For having weaknesses in the wrists, the turning motion can be challenging for Reed so his family is VERY proud of him! To learn more about the weekly infusions Reed takes and his love for the Beatles, read the interview conducted with his mother below.
1. To start off, can you tell me a little bit about Reed?
Reed is 4 years old, and he was diagnosed with Morquio A syndrome last year shortly after his sister Ruby was born in the middle of the pandemic. Reed has always been petite and after many specialist appointments and dead ends, his endocrinologist requested a skeletal survey, which are x rays of every bone in his body. These were all abnormal and we were immediately referred to the geneticist. We were expecting that something would be off, but not to the degree at which Morquio does and will continue to affect him. Reed lacks the enzyme he needs to break down certain sugar molecules in his body called glycosaminosglycosans. These molecules then ultimately attack all of his organ systems, mostly affecting his skeletal system. He receives a weekly infusion of Vimizim, a synthetic version of this enzyme. Unfortunately, this only prevents him from getting worse, and there is no cure.
Even through all the challenges, Reed always has a bright smile on his face! He is very much a rule follower, and learns and picks up things so quickly. Most of all, he loves trains, cars, and all types of music, especially the Beatles. He is also an amazing big brother and always takes care of his little sister Ruby.
2. What do you love most about raising Reed?
Being his mother, I thought that I would give Reed life, but he truly gave me mine. His zest for life and personality are unmatched. I learn so much from him every day.
3. What are some of your favorite resources as a parent?
Other moms of Morquio children I have met on Instagram have truly been an amazing resource. Whether I need advice or have any questions, they have always been an amazing support system. The MPS society and NORD (National Organization for Rare Diseases) have amazing resources as well for people like my son.
4. What is a recent accomplishment/milestone of Reed?
Having the strength to reach for and turn the door knob! With Morquio, there can be weaknesses in the joints. For Reed, he has weakness in his wrists, so that turning motion can be challenging. Reed has been working so hard on improving his wrist movement and we are so proud of him!
Reed is also very smart. He has the amazing ability to open a book he has never seen before and read the words on the page!
5. What has your son taught you?
Reed has taught me so much about life, but mostly how important the simple things are. Every thing he does is like he is experiencing it for the first time. Watching Reed explore the world through his own unique way is truly my greatest joy.
6. What message/advice would you like to give other families who have a child/children with special needs?
When your child is first diagnosed, it can often be a very confusing and isolating experience. My best advice is to build your support network and align yourselves with people and families who have similar experiences to you. The times I needed support the most were a long time after the diagnosis. Certain milestones and the anniversary of the diagnosis can be much harder.
Meet Hailey! She can be found hanging out with her dog Bailey or watching her older brother Noah doing funny dance moves. Don't be fooled - while she may be shy at first, she will quickly warm up to you with her kind heart and contagious smile! To learn more about Hailey's diagnosis journey, her recent accomplishment of waving, and her mother's mission of Hailey writing her college essay on her cure in the future, read the interview down below.
1. To start off, can you tell me a little bit about Hailey?
Hailey is a happy, sociable, 17-month old girl. She was born at the beginning of the pandemic, so she is making history simply by her mere being! Hailey is my second child, and I have a son named Noah who is four years old. Hailey was originally a twin, but we lost the other baby early on in pregnancy.
From the start, Hailey has proven her strength and resiliency! She is a fighter and continues to be. From a medical standpoint, my pregnancy with Hailey continued to show a healthy developing child after genetic testing and routine ultrasounds. After her birth and a long journey of doctor visits (followed by my own concerns), Google searches, tears, and a misdiagnosis, Hailey was finally given a diagnosis at 8 months old. Her amazing neurologist did some more genetic testing and found out that she has Jordan's Syndrome, an extremely rare condition that currently has 191 other individuals diagnosed worldwide. Jordan's Syndrome is the outcome of a random mutation on the gene PPP2r5d. Individuals with Jordan's Syndrome struggle with hypotonia (low muscle tone), sleep disorders, seizure disorders, global developmental delays, etc.
However, Hailey is MUCH more than her diagnosis! She has the cutest giggle that I have ever heard (aside from my son). She gets so much joy out of watching her big brother dance around a room or sing his favorite songs, but nothing gets her going like her dog, Bailey (yes their names rhyme- oops!). She cannot stop laughing when her dog gets one of her blankets and throws it around. Hailey is very attached to her doggy and brother and loves to watch them play and run around.
2. What is a recent accomplishment/milestone of Hailey?
Hailey has started clapping and waves hi! She is so cute and proud of herself whenever she does that. Her accomplishment is usually followed by a big grin from ear to ear!
3. What is your mission as an advocate for Hailey?
My mission started out as a means to help raise awareness for her rare condition and help fund ongoing research for Jordan’s Guardian Angels. While that is my main focus always, I have learned to advocate for her in so many different ways. My husband and I have made sure that when we feel something needs to be addressed by a medical professional, we push for it.
My biggest mission is that one day, Hailey will be writing her college essay about how she was cured and how she would like to continue her education to help cure other unknown diseases, illnesses, etc. for the future.
4. What does Hailey love to do? What is her personality like?
Hailey LOVES to people (and dog) watch. She soaks it all in and enjoys watching people in their element. She has become stronger due to all of her therapies, and she loves to sit (supported in her “sit-me-up” chair) and watch her friends and family do silly things. She has the sweetest disposition. It is rare that you will find her without a smile on her face. It may take her a little while to warm up to you, but once you have captured her interest, you will always have her heart!
5. What is the most rewarding aspect of raising Hailey?
The most rewarding aspect of raising Hailey has been watching her grow into her own person. She is becoming the Hailey she wants to be and not what society deems is appropriate. Watching her thrive and master skills that she struggled with days, weeks, or even months ago, has been our greatest joy. Raising Hailey has allowed us to become more aware of the world and issues, people, and struggles that exist outside of our own bubble.
6. What are some of Hailey's best strengths?
Hailey’s best strength is her resilience. There is not much that truly phases her. She has her MRI’s, EEG’s (even a take-home EEG's), dilated eyes, countless doctor appointments, and it takes a lot for her to get flustered or upset.
Hailey is also one of the strongest individuals I know. It is not easy for her to do every day tasks (things like even lifting up her head or tummy time), but she works and pushes through it like a champ. She has been in therapy since about the age of 2 months and currently has therapies (physical, occupational, and speech/feeding) 8 times a week and counting.
My favorite strength of hers, which I saved for last, is her ability to make everyone around her see the endless possibilities that are in her future. She helps shine light on what is so important in our world.
7. What has Hailey taught you?
What hasn’t she taught me? Hailey has shown me a new world. She has allowed me to appreciate the small things in life. Because of her, I have slowed down, and truly taken the time to be so grateful for all of the blessings we have. Every time she hits a milestone (even if it isn’t a typical milestone) we celebrate it. We laugh, we cry, we make a big deal because Hailey is showing us that she is going at her own pace and getting to her destination in her own time.
I am a parent to two children; Noah who is neurotypical, and Hailey who is neurodiverse. I have learned not to compare anyone (that goes beyond my children) and to allow people to express themselves however they want.
8. What resources have been helpful for you on your journey?
Besides the community I have found in my fellow Jordan’s Angels families, I have found that people in my life, others in the rare disease community, and writing have been the most helpful resource for me. It has helped me cope, feel grief when I need to, find praise and support whenever, and has allowed me to feel less isolated and alone on this rare and unique journey.
9. What message/advice would you like to give other families who have a child/children with special needs?
While no parent likes to hear that their child has struggles or may face a different path than we imagined, know that there is a community of people (even strangers) that are there for you. When you need to cry, cry. When you need to drive around in your car and scream so loud that you lose your voice for a few days, scream. And when you see progress in the things that you never thought would be achieved, cry, laugh, smile, celebrate. Just know that your feelings are valid, no matter how you feel.