Life with CNM/MTM
Family stories with myotubular myopathy and neuromuscular disease
Solis Family
We greatly appreciate what the Joshua Frase Foundation is doing for the CNM/MTM community and the lives of those affected. It has been incredible to see the breakthroughs that have been made and that are being made. It gives us hope. Alison Frase is amazing at connecting families within the community and staying plugged in. We wouldn't be where we are today without the Joshua Frase Foundation.
Thank you,
The Solis family
Lofton Family
The Joshua Frase Foundation has helped us through every aspect of our journey with Myotubular Myopathy. The first time I met Alison Frase was when Cason was in the hospital. She brought me a sandwich without even knowing I had not eaten in 2 days. Since then JFF has introduced me to a network of medical and family support, helped us relocate to Jacksonville so that Cason can get the specialized medical care he needs, and has even helped us with much needed van repairs. After Cason was confined to our mobile home for 4 months, Paul Frase along with a friend, came to our home and built Cason a ramp so he could go outside and get to his doctor appointments. The Joshua Frase Foundation donated all the supplies needed for the ramp! Most importantly, JFF made it possible for Cason and I to attend our very 1st Jaguars game!! I can’t imagine this special journey without the support and love we have received from the Joshua Frase Foundation.
Dana
Deluna Family
It’s that time of year!
Tis the season. As my family has been preparing for the upcoming holidays, I have done quite a bit of reflecting on 2018. This has been a year of many trials and tribulations such as we have never experienced before. Our son, Lincoln Avery, had 2 near fatal hospitalizations. We spent more time in the hospital this year than when he was first born in the NICU. We saw and experienced things a parent should never have to go through with their child. The emotional toll that these events took is devastating. Ironically though this has also been a year full of incredible blessings thanks to our MTM community and The Joshua Frase Foundation. Always willing to answer the phone, at any time of day, Alison Frase offered our family love, support, connections to doctors who could help save his life.
Our Lincoln Avery is about to turn 5 years old. 5 years of living in a life or death reality. 5 years that have turned my hair gray and scared the daylights out of me. 5 years that have been the BEST days of my life. I have never felt more alive than when I am with my son. The sun shines brighter, the sky is more blue, and time isn't just a passing of seconds, minutes, hours, or days. Time is sacred.
I want to “Thank you” again from the bottom of my heart to JFF. Everything that JFF has supported us through has translated into significantly improving Lincoln’s quality of life and his survivability. My son is alive in part because of JFF and their advocacy. Having a son with a rare, life-threatening illness makes life very turbulent and unpredictable. To have such a compassionate and loving community to turn to makes a world of difference. We always want to provide more than the bare minimum for Lincoln. We want him to THRIVE. And thrive he has. Thanks to his doctors, the MTM Community, and JFF.
I am happy to report that Lincoln is doing very well and is in pre-school. He had his Pre-K evaluation done in August and absolutely dominated the Comprehension/Speech/Language portion. He is demonstrating language skills at a 6.5/7-year-old level and he hasn’t even turned 5 yet!
JFF’s loving support and contributions have helped allow my husband and I provide him things that we never thought possible. So as we approach Thanksgiving we wanted to share how grateful we are.
With the utmost gratitude & love,
Maggie
Townshend Family
Giving Tuesday is coming up and I want to share with you a Foundation that is very close to my heart.
The Joshua Frase Foundation was instrumental at acquiring and fostering the development of the model canine colony that makes it possible for treatment of my son’s condition to be found. They provide funding through their nonprofit organization to different groups in able to further rare neuromuscular disease research, so that families like mine can one day live in a world free of these life threatening conditions.
In addition to furthering research, the JFF also helps individual families in need, like ours. They purchased Jamie’s gait trainer for us when we needed one after Jamie’s halo procedure and paid for the shipment of a donated stander for Jamie so he could start weight bearing into his legs to prevent hip issues over 6 months before insurance could provide one.
Aside from their financial contributions, the JFF provides invaluable patient advocacy, as well as providing emotional support and an ear when things are going south. They also connect families to medical professionals and other experienced members of the community that can assist in times of dire circumstance. Having spent nearly 5 months in the hospital with Jamie this year we have benefited greatly from all the JFF has to offer.
Please consider directing your generosity to the Joshua Frase Foundation this Tuesday, and know that your donation will go to worthy cause.
Also consider choosing the The Joshua Frase Foundation for Congenital Myopathy Research. Inc. when utilizing AmazonSmile during your holiday shopping this year, where they donate a percentage of your purchases to a cause of your choice.
Gonzalez Family
The Joshua Frase Foundation is a charity that we strongly believe in. From the moment Joshua was born, Alison Frase and the Joshua Frase have been providing us with hope even when our own doctors in the NICU could not. JJ has been a fighter from the moment he was born but it was always so difficult hearing "Are you sure you want to go through with this?" or "are you thinking about his long term quality of life?". Little do they know that now because of our never give up mentality along with all the aid received from JFF, not only is he surviving but he is THRIVING! He may need suctioning every so often and yes it may be slightly more difficult for us to plan a trip due to all the medical equipment, but we wouldn't change it for the world. He thoroughly enjoys his sight seeing walks along with just being a couch potato and watching movies, as well as everything in between. So we are just so truly grateful for Mrs. Frase always being available to provide us with information as well as aid whenever needed. It is because of the Joshua Frase Foundation we were able to receive a new roof after it was damaged by Hurricane Irma. We are forever grateful for this foundation as well as everyone who is a part of it. We are forever grateful for this foundation as well as everyone who is a part of it.
Javier
Convey Family
The Joshua Frase Foundation has opened us up to a community of experienced parents who are dealing with common issues that come with Centronuclear and Myotubular Myopathies. They have been the support my family needed in good times and hard. We are so thankful for Alison, who is willing to drop everything she is doing to help parents like us in any given moment. She has provided me with both informational support and emotional support. My husband and I now feel comfortable to pass on our own knowledge in order to help other parents and that is what makes our community so strong.
If it wasn’t for the hard work and dedication of the Joshua Frase Foundation we wouldn’t be on the doorstep of a cure with gene therapy. The clinical trials have been extremely promising and we are so grateful for Joshua’s legacy. Alison’s dedication to her son’s legacy is inspiring and beautiful to witness. Thank you for all the support and hard work towards a promising future.
Georgia
Nico's Story
Dear Alison,
I have started this email several times, but each time I had a hard time finding the words. So I’ll start with the objective parts.
I was given your info by one of the genetic counselors, Casie Genetti, while we were at Boston Children’s and I wanted to introduce us. My name is Emily and my husband is Michael. Our son, Nico, was born on 6/9 and has been diagnosed with XLMTM. We were actually really lucky that we were able to participate in a research study and learned his diagnosis so quickly. It meant that we were able to make some long term decisions quickly, which we hope will improve Nico’s outcome. On his one month birthday he had surgery for a tracheostomy and g-tube. He’s currently in a rehab and we are learning to take care of him. On Sunday, his 3 month birthday, he finally measured at the weight needed to be transitioned to the home ventilator. We can’t wait to take him home to New Hampshire. We are really lucky that we have the support and are able to take him home. My husband will be staying home with him and my mom is moving in to take care of us while we take care of him.
In general he is doing well. He moves his arms and legs quite a bit and has even learned to use a pacifier. We think this is amazing. His eyes are open more and more every day and he is becoming more alert. He is on room air most of the time and while he does have a lot of secretions, if kept clear he does quite well.
As he is growing, he is showing us more and more of his personality. He loves to eat and loves to be cuddled. He likes to be cool and he also likes to lounge in his boppy newborn lounger. It has elephants on it. He is named after a Formula 1 driver and we hope he is as much a sports fan as we are. So far he seems to like his Boston sports teams outfits.
On to the difficult parts... I read your welcome letter to new families during a really difficult time where we felt hopeless. This journey can feel very lonely, and your letter felt like you were there, cheering us on. Learning of Nico’s diagnosis has been so incredibly difficult, as I know that you know. The hardest part for me to come to terms with was the XL of XLMTM. As a mom, I know you understand in a way that other moms can’t.
I have to say thank you for being you and for you and your family’s continued dedication to this disease. It is because of you that Michael and I can have hope. Hope that perhaps Nico’s story will have a different ending.
My faith has taken a huge hit over the last few months. I have struggled with it in ways I never imagined. And then I realized that on the day we found out Nico’s diagnosis, the Bible verse of the day, in the Bible app I have on my phone, was Isaiah 40:31 and I knew, without a doubt, that Nico has a very special guardian angel.
Warm regards,
Emily, aka Nico's Mama
Peter's Story
"Our beloved Peter passed away on July, 27, 2018, as the result of a liver hemorrhage. He was a sweet, happy boy most of his short life, and always came through with a beautiful smile even when in great pain. He was the rock of our family and a real fighter, who meant so much to so many people around the world. With assistance, Peter was able to stand in the ocean, board a train, ride a horse and for many years, ride a bike. His last few years were very hard, especially with the multiple liver episodes, but his signature smile never left his face. He now joins his fellow angels, who are free from their earthly constraints. We thank all of you who stood with us throughout good times and bad, and will continue in the quest to find a cure for all our kids."
Dr. Ramzi Khuri
The Essence of Life
Just a glimpse into the lives of some of our precious families
Patient Day 2017
Music with Mare
We couldn't help but share this video of Mare, in Florence, Italy, being serenated by his father and uncle. I am inspired by how our families embrace life and this video is a sweet reminder of finding joy in everyday moments.
Massimo's Story
...I saw my purple baby for about 15 seconds before the alarms rang and about ten nurses and doctors were in the room, they were breathing for him and (I found this out last week) when they left the room they were doing chest compressions on the way to the nursery.
He was intubated while the ambulance was on the way and my baby and husband were off to a bigger hospital. I was a few hours behind...
To read the entire story click here
Francesco's Journey: A story in a name
We are Italian and we have lived in Rome since our birth, we have always been living our life like many other people … family, job, friends … and waiting for a baby.
We have been waiting for a baby for many years … then … when we discovered that a baby was growing up in my wife … with a great surprise we saw the calendar … and it was the October 4th … the celebration day of Saint Francesco … the most important Saint in Italy. We had not doubts … our son would be Francesco !!!
The nine months after passed without problems … a beautiful period … waiting for Francesco … imaging his little face … having many dreams with him … then … when the evening of the June 5th 2012 we went in the hospital for the birth … we couldn’t imagine that we would return at home after one year !!!!
Francesco wasn’t able to breathe at the birth … he was practically dead. His Apgar index was 0 !!! But he showed immediately his strength because after one minute, even with the help of pediatricians his heart started to beat !!! Francesco was with us …
to read more, click here
Raxton's Story
In one year all of our lives have changed in so many ways. It's been a year full of ups and downs but more importantly, it's been a year of making nonstop memories. On July 3rd 2014, I woke up and went to work just like any other day. I knew that I had a scheduled weekly check up with my doctor to check on Raxton. When I got there, things were just as normal as any other appointment. I felt great even though my feet were swollen like balloons. As I sat in the chair listening to my sweet babies heart beat and listening for any movements or kicks that I might be able to hear, I noticed that his heart rate dropped for a little bit longer than I had ever heard or seen before. Shortly after, the doctor sent me to the hospital to be monitored a few hours longer to make sure everything was ok. As I laid in the hospital bed, talking to my best friend, they came in and told me that as soon as my husband could get there, they were going to take me back for an emergency c-section. I freaked out but I was also over the top excited that this was the day we would finally meet our sweet baby Raxton. When Raxton was born I remember anxiously waiting to hear his sweet cry, but it never came.
To read more, click here.
Patrick's Story
How does one write about life with MTM1 in just a page? So hard, but here goes nothing. Come one come all to the greatest show on earth, “Raddatz brothers and Barnum baily circus” Where death defying acts will thrill you…Strength and courage with warm you…And clowns will make you smile.
In 1991 my happy little goofball was born “Cliffy”. In 1995 God decided to add to the “Patrick” to the circus. I can’t write a sad depressing story because I never felt that way. I’m going to skip to the present and work back to the past. Patrick is a blue mohawked, bearded, tattooed, pierced, gaged ear 20 year old...
To read more, click here.
Emiliano's Story
Kyle's Story
Our son Kyle was born on a beautiful October day in 1996. All our hopes and dreams for a healthy baby boy were shattered for a second time in the delivery room, where he showed obvious signs of respiratory distress and muscle weakness. The NICU became our new home away from home for the next 2 1/2 months as we watched, waited, and prayed for our second baby boy to gain strength enough to come home. We had lost one newborn boy before, I didn't want it to happen another time, it seemed too much to bear.
Sam's Story
‘What did your son have?’ she asks me as she picks her daughter’s jacket up off its tiny hook. She stops and looks to my eyes as I answer. ‘A genetic neuromuscular disease,’ I say, “its very rare, I’m sure you’ve never heard of it. Only about ten kids are born with it each year’. I bend down to grab my son’s backpack, while my seven month old happily busies herself with my hair. “Oh” she says as her gaze shifts downward to a child size bench across the room. Is she wondering what it would be like to have her child die? Is she looking at me, with mother’s eyes, and feeling sorry? I stand in front of her and wait…hoping she’ll continue and ask me more about my son Sam.
John's Story
After 13 miscarriages, our son, John, was born in April 1989 with Myotubular Myopathy. John coded at birth and was on a ventilator for several weeks. He had a fundoplication and trach at 7 weeks and at 11 weeks we brought him home from Texas Children’s Hospital in Houston. We were told that he would probably only live a couple of weeks and never see his first birthday. Not exactly the entrance to parenthood that we’d dreamed of, to say the least.
Peter's Story
"...Our first possible hint of trouble came when, four months before he was born, he was found to have clubbed feet. However, as this does run in part of my family line, and is easily repairable, we weren’t overly concerned. One week after the due date, Peter still did not start moving out in the birth canal, even in response to induction. His obstetrician then decided to do an emergency C-section on December 19, 2003. Much to our surprise and dismay, he came out extremely floppy and in respiratory distress. He needed oxygen via a nasal canula. Peter was transferred (accompanied by me) overnight out of NYU to the Mount Sinai Neonatal Intensive Care Unit, the reason given to me by one of the doctors at the NYU NICU being that there were “too many babies in distress, and that was unfair to the NYU staff”. Donna was meanwhile left to recover at NYU while worrying about what would happen to Peter. I promised her I would take care of him. It was very hard on the three of us, but I shuttled between the two hospitals, catching occasional naps during the cab rides..."