Female carriers of x-linked myotubular myopathy invited to join a new study

A new European study, led by Dr Nicol Voermans of Radboud University Medical Centre, The Netherlands, is looking into the possible muscle symptoms in female carriers of myotubular myopathy. The study is keen to recruit as many female relatives of boys and men with x-linked myotubular myopathy as possible, plus manifesting and confirmed female carriers too.

Bhawana with Wendy and Anne from the Myotubular Trust.

Dr Voermans has a special interest and expertise in congenital myopathies and the study team consists of Professor Ulrike Schara, Essen (Germany), Professor Heinz Jungbluth, London (UK) and Dr Carsten Bonnemann, NIH (USA).

This study concerns all female relatives of boys and men with the x-linked form of myotubular myopathy whether symptomatic or not, including grandmothers, mothers, sisters, aunts and cousins, with the aim being is to visualise the entire spectrum of symptoms in carriers.

The study consists of a number of digital questionnaires which you can fill in at home. A possible follow up of this study will be performed in the future, when the coronavirus situation allows it. The follow up would consist of some simple neurological tests.

The results of the study will give a better understanding of the disease and improve the health care for female carriers. In addition, it can contribute to clinical trial preparedness.

To be able to participate in this study, you must be 18 years or older and you must be able to fill in the digital questionnaires. This study is currently limited to Europe.

If you are interested in participating and would you like to receive more information about this, email congenitalemyopathie.neuro@radboudumc.nl to express your interest.

The RECENSUS Study of Patients with X-Linked Myotubular Myopathy (XLMTM)

The second RECENSUS manuscript entitled ‘Mortality and Respiratory Support in X-linked Myotubular Myopathy: A RECENSUS Retrospective Analysis’ was recently accepted by the journal Archives of Disease in Childhood and the full text published  online as an open access article. Below Kimberly Trant, Senior Director of Patient Advocacy and Engagement at Audentes Therapeutics writes about the study.

RECENSUS is one of the largest natural history studies of patients with XLMTM. This means that, with approval from patients and their families, researchers have collected medical records on 145 patients and reviewed them as a group to help understand their symptoms, their medical treatment, and the course of their disease.

From prior studies, we know that nearly half of children with XLMTM do not survive past 18 months due to respiratory failure, and those who survive typically require respiratory and feeding support, and never sit without support or walk on their own. To ensure that patients get the best care possible, it is important that they obtain a timely diagnosis. This can be more difficult in rare diseases, like XLMTM. Data from studies like RECENSUS help medical professionals recognize the signs and symptoms, request the appropriate diagnostic tests, and then provide patients with the best options possible.

The first analysis from RECENSUS (Beggs and colleagues, 2017) looked at patients’ burden of disease and their medical treatment. Here’s what we learned.

  • The average age at diagnosis was at three years old (36 months), which is decreasing over time.
  • Nearly all (90%) XLMTM patients required respiratory support at birth.
  • 60% of patients had a tracheostomy.
  • 48% of patients were dependent on ventilator support 24 hours per day.
  • In their first year of life, affected children had an average of 3.7 surgeries and spent 35% of the year in the hospital.
  • A substantial number of mothers reported signs of XLMTM during pregnancy, including decreased fetal movement (53%), polyhydramnios (excess amniotic fluid; 52%), and premature birth (31%).

The second analysis from RECENSUS (Graham and colleagues, 2019) looked at how respiratory support relates to survival, especially for younger patients. Here’s what we learned.

  • The most common cause of death was respiratory failure (67%), despite nearly all patients having respiratory support from birth.
  • Patients with a tracheostomy lived much longer than those without a tracheostomy (22.8 years vs 1.8 years) on average.
  • By six months old, only 50% of patients were living without a tracheostomy; by two years old, this number fell to 28%.

Audentes Therapeutics sponsors and runs the RECENSUS study. Audentes thanks the patients and families with XLMTM who allowed their data to be collected for the RECENSUS study. We are also grateful for support from the XLMTM patient advocacy community: The Joshua Frase Foundation; MTM-CNM Family Connection; the Myotubular Trust; Where There’s a Will There’s A Cure Foundation for Myotubular Myopathy; and ZNM – Zusammen Stark! 

References:

  1. NCT02231697 – A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (RECENSUS). Available at https://clinicaltrials.gov/ct2/show/NCT02231697. Accessed October 14, 2019.
  2. BeggsAH, Byrne BJ, De Chastonay S, et al. A multicenter, retrospective medical record review of X-linked myotubular myopathy: the recensus study. Muscle Nerve. 2018;57:550. Available at  https://doi.org/10.1002/mus.26018. Accessed October 14, 2019.
  3. GrahamRJ, Muntoni F, Hughes I, et al. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis Archives of Disease in Childhood. Sep 4 [Epub ahead of print]. Available at http://dx.doi.org/10.1136/archdischild-2019-317910. Accessed October 14, 2019.

Audentes logo.

The intern

This story first appeared in the Information Point newsletter Our World in 2017 when Allie Welter told the Information Point about the internship she had recently completed at the Beggs Laboratory in Boston.

Allie Welter is a biochemistry/molecular biology major in her junior year at University of Wisconsin – Eau Claire. Allie’s brother Andy is diagnosed with X-linked myotubular myopathy and she recently completed an internship at the Beggs Laboratory in Boston, one of a number of research labs which study the condition. Below Allie writes about her internship and her studies.

Allie

I became a biochemistry/molecular biology major because I have always been very interested in genetics and this major gave me the opportunity to take lots of classes within that field. My interest in genetics comes from my younger brother Andy. Genetics has always been a huge part of my life because of him.

At Eau Claire, I work with the plant Arabidopsis thaliana, specifically with enhancer mutations that cause the plant to be hypersensitive to red light and grow really short. Right now, we are currently mapping where these mutations are in the genome in hopes to learn more about these mutations effects on the plant. I got involved in research my first semester of my freshman year, since I am a Blugold Fellow (an opportunity which allows Freshmen to work on special projects or collaborative research). I reached out to Dr Gingerich, who is an associate professor in the Biology department, after reading about some of his projects to see if he had openings in his lab and have worked with him ever since.

Being involved in undergraduate research has helped me in my lab classes at the university, since I have learned some of the skills already from my research lab. Going into my internship in Boston, I noticed I picked up on new lab skills and techniques easier because of my research background and what I learned during my undergraduate research experience with Dr Gingerich. Since I had already learned basic genetic techniques, it allowed me to focus on learning new skills and build off of what I already knew.

Allie

In Boston, I spent the summer working with Dr Alan Beggs studying congenital myopathies, or muscle disorders that mostly involve the skeletal muscles. I introduced myself to Dr Beggs at the MTM-CNM family conference and talked to him about how I was interested in research and genetics in the future, then when I was looking for internships, I reached out to him to see if any opportunities were available to work in his lab and he remembered me.

It wasn’t actually too difficult for me to get the internship, since Dr Beggs had already met me several times at family conferences and knew that I would work hard in this lab. It put me a step ahead of other people applying for this internship because I wasn’t afraid to introduce myself and talk with Dr Beggs at these conferences.

People are often surprised at how I seemed to land this internship ‘easily’ but it was through maintaining a professional relationship with a researcher. Networking is huge in science and making connections with professionals, who can provide great opportunities like this one, opened me up to a great experience. I enjoyed interning in a lab that studies a specific disease too, since it’s easier to dive into specific topics and not just focus on general themes that you often do in university lectures.

Allie

In the Beggs Lab I got to work with animal models including zebrafish and mice, which was out of my comfort zone since I work with plants in Eau Claire. It took me some time to get used to working with an organism that actually moves, but it definitely got easier with time. My favorite part of this internship was the variety of things I got to try and learn while there. I got to help with a CRISPR/Cas9 gene editing project with zebrafish, monitor the progress of mice with one of the muscle mutations after it received a new gene therapy treatment, create myoblast/fibroblast cell cultures from mouse dissections, along with improving my skills at other basic genetic techniques such as PCR and agarose gel electrophoresis.

I learned how to use some different equipment that we don’t have at Eau Claire, like a cryostat, which makes thin slices of tissue that you put on microscope slides to stain and observe. This was exciting to use because a cryostat is a machine I had only read about in my textbooks, and I never thought I would learn to use one on my own this summer.

Allie

The internship was a great experience, as I got to interact with current graduate students and hear about their experiences, learn from Ph.D.’s about how they got to where they are today, and build connections with other interns. At first, I was nervous going all the way to Boston for an internship, since I knew nobody directly in the city, but I learned a lot from adapting to living in a big city and making friends/connections around Boston.

The internship reassured me that I am in the right field and got me excited for my future career. As of right now, I am planning on going to graduate school to either get a masters or Ph.D. in a biochemistry/biomedical program and would like eventually to work in or have my own research lab in the future. For women considering a STEM major, I would say do not let the fact that it is looked upon as a male dominated field scare you away. If you have the passion, take opportunities and open yourself up to new experiences, you can find success no matter what your gender.

A short film about Jackson

This story first appeared in the Information Point newsletter Our World in 2017, when Jona Watson told The Information Point about her nine year old son Jackson and the short film that had recently been made about his life.

Jackson is nine years old and is diagnosed with X-linked myotubular myopathy. He lives in Plano, Texas with mum Jona and older brother Reid who is 11. Jackson attends Davis Elementary school for the hearing impaired where his favourite class is science. Jackson and his family recently featured in a short film about his life.

The film was made by a group of Junior students from Plano West Senior High School for a film class – one of the students, Maggie, is the daughter of Jackson’s physical therapist. It was made to satisfy a major grade for their class in which the students had to spotlight an issue pertaining to their community.

Maggie has come to our house to observe her mother and fell in live with Jackson. She came up with the idea for the film based on her knowledge of some of the issues facing special needs kids and their families in Texas. At the time the Texas government had made major cuts to the Medicaid budget in order to fix the growing costs of Healthcare in the US, including the amount paid for and the granting of therapies for these children without looking at the fallout.

I became involved when Maggie and Tracy approached me with her idea for the film. There was a lot of emotion wound up in the film, pride and love for my one of kind kid and for the relationship between him and his brother. There was a lot of our journey brought up that was difficult to deal with emotionally, some sadness and frustration and a lot that was empowering.

I did wish that the questions given to us had stayed more on topic of the therapy cuts and less on our journey … that being said I was thrilled with the outcome. This group of kids did an amazing job and I’m sure they learned a lot in the process.

I would love for everyone to see this film, specifically the healthcare community and those in government who are making these choices based on false information, or at the very least not enough information. In the long run these cuts made willy nilly will cost more money than fixing the problems that are actually costing us all.

In the short term this film achieved exactly what it set out to do, put a spotlight on one of the most important aspects of our journey, therapies and teaching students a list of things they didn’t know before, all while letting some new people in on how awesome Jackson is, his journey, his life, and his day to day existence.

My favorite thing about the film was watching my boys and what amazing people they are turning into. Jackson loved being filmed, but I think he loved hanging out and showing off for the teens, especially Maggie, who he adores.

Tubie Friends

This article about Kyle, first appeared in a 2015 issue of The Information Point newsletter Our World, when his grandmother Darlene, told us about the organisation Tubie Friends. 

tubie2

Tubie Friends was started by a group of mothers in the USA whose children have been or are currently using a feeding tube as a primary source of nutrition and knew, that when a parent is told their child needs a feeding tube or other medical equipment, it can be a scary time for the entire family.

Kyle Miller is 13 years old and lives in Maryland, USA. Diagnosed with X-Linked myotubular myopathy, Kyle has had a trach and feeding tube since he was one month old. He recently received a Tubie Friend as a gift from his grandmother Darlene.

Darlene told The Information Point ‘I found out about Tubie Friends animals on Facebook via another group I belong too. They match a Tubie Friend to each child based on information you provide, such as if they have a trach, feeding tube or pic line’.

‘Tubie Friends are important for children like Kyle as they can connect to them. They give the child a sense of enjoyment knowing other people think about them and try to make things feel natural to them. Kyle’s Tubie Friend was a surprise, he didn’t know I had ordered him one until it came. On receiving it he said “Hey, this dog has a trach and g-tube just like me. This is really awsome”. It was the first time he has gotten something that was so much like him and it makes him feel special. He tells everyone that comes to our house look what I got in the mail’.

‘Kyle named his Tubie Friend Frenchy. The stuffed animal came with a card saying he could choose a name and also the name of the person who had fixed it for him. Kyle names all his things after things he likes. His pet dog’s name is John Deere (JD for short) and he likes french fries – as he was eating them at the time the Tubie Friend arrived it was only natural he name him Frenchy’.

As much as possible Tubie friends mirror a child’s medical interventions to the animal they are receiving, by placing a similar feeding tube, as well as additional medical interventions such as central IV lines, tracheostomy tubes or oxygen cannulas if possible. Additionally, each Tubie Friend comes with a parent letter providing information and listing support groups for feeding tubes.

Tubie Friends were initially intended for people with medical devices and who are developmentally under the age of 18. However, in addition to bringing comfort to a child, Tubie Friends can also be used as a teaching tool for family, friends and caregivers and can be purchased for adults, schools, siblings, caregivers and doctors also.

San Francisco watercolours

This story first appeared in the Information Point newsletter Our World in 2013, when Andy C Villon, a 19 year old freelance artist, diagnosed with X-linked myotubular myopathy, who lives in Greenville, South Carolina told us about four watercolours he had produce for Audentes Therapeutics in San Francisco, a biotechnology company developing new treatments for people with serious rare diseases, through the application of gene therapy technology and currently working to develop a treatment for myotubular myopathy.

Andy and his paintings.

Andy says: I am diagnosed with X-linked myotubular myopathy however I do not let this disability stop me from enjoying life. I have been painting and drawing as a hobby all of my life. When I graduated from high school, I knew I wanted to do something with art. Around this time, I painted my first watercolor of the Grand Canyon and seeing how it came out, I knew I was on the right track. This painting won in the youth category in the 2014 RareArtist.org art competition.

For the past three years I have been instructed by Bruce L Bunch who is a professional artist. Mr Bunch has guided me and given me advice on how to improve my painting skills, I have learned a lot about art history, digital art and traditional art from watching videos on YouTube and I learned about design when I read the biography of Steve Jobs by Walter Isaacson.

My watercolors tend to look much more realistic than my acrylic paintings. My acrylics are very impressionistic and vibrant. After watching a girl on YouTube draw photorealistic portraits using colored pencils, I was inspired to try that medium too. When I paint with watercolors and acrylics I enjoy painting broad landscapes.

I love powerful scenes where you can see an entire city or valley and earlier this year was contacted by Tristen Moors of Audentes Therapeutics. She wanted me to paint four watercolors of scenes from around San Francisco, California, to go in their new office. These were the first large (18″ x 24″) and realistic watercolors I had ever done and I truly appreciated what I was painting due to the fact that I had traveled to San Francisco in 2013 and the paintings helped me learn so much about working with watercolors.

The four watercolours painted by Andy are now showcased on the walls of the Audentes offices in San Fransciso and as the photos here show, the team are very happy with his work.

Watercolours in the Audentes Therapeutics office in San Francisco.

 

 

The Hippocampe All Terrain Wheelchair

This story first appeared in the Information Point newsletter Our World in 2013, when Clair Tierney wrote about her experience of the Hippocampe All Terrain Wheelchair. 

Luke and Clair.

Luke is eight years old and has X linked myotubular myopathy. He lives with his mum Clair, dad Paul and sister Anna aged 11 in Coventry. Below Clair writes about her experience of the Hippocampe All Terrain Wheelchair.

As the years have gone by, taking our son Luke on holiday has become more and more difficult. We found that Butlins was the easiest holiday to manage as the staff were so accommodating and the apartments very large and spacious for our budget. Everything is flat and easily accessible. However, one of the hardest things was getting Luke down on to the beach. When he was much smaller and weighed less he was fine to carry down to the sea to see and touch the water and his wheelchair was small enough to pull on the beach, but as he grew and the wheelchair grew it was no longer possible. He would spend the time just sitting by the tent and building castles. Obviously we made sure he still had lots of fun but I couldn’t help feeling guilty as he watched his sister and dad go and have fun running along beach, playing by the sea, jumping over the waves.

We first saw the Hippocampe when visiting friends, they had entered a competition and won one. We thought it was brilliant. Luke had a go in it and he looked very comfortable. Our friends explained that it could be towed, pushed or self propelled and it was very easy to turn. It can go onto the beach, in water, on rocky ground and is even great for the snow. It was designed for disabled people by disabled people and is for any age to enjoy outdoor activities to their full ability. It was practical and lightweight and came with separate beach wheels which were very easy to change. We were impressed so we went home to research it but it cost £3,500, a lot more than we could afford.

So with supporting letters from our Children’s Community Nurse and occupational therapist we wrote to a few charities to see if they could help to fund one. They couldn’t. One said no because it is a wheelchair and Luke already has an electric wheelchair. Another said no because it was a leisure item not a necessity. We were frustrated by this because, yes he already has a wheelchair but he certainly could not use it on the sand, rocky ground, or in the snow and as for it being a leisure item, all children need leisure even the disabled ones but other children’s leisure is free, they just put one foot in front of the other and run like the wind. Unfortunately for our disabled kids, they cant do that, so we, the parents have to pay thousands of pounds for the same leisure. It seems cruelly unjust.

So, we then decided to research the possibility of hiring a Hippocampe for our holiday and came across Equipment Services in Somerset. They very kindly agreed to deliver it to Butlins and pick it up for the brilliant price of just £21 for the week. We were delighted. We can honestly say it was life changing for Luke, we all ran and played together on the beach and he said it felt brilliant racing around on the sand going in the sea, something he had never done before. If we had £3,500 we wouldn’t hesitate in buying one of these fantastic wheelchairs, especially as winter is now approaching and we have exactly the same problem in the snow as we do on the beach. We would highly recommend this equipment. It made our holiday and will look into hiring it again next year.

Make a wish (a visit to Disneys Animal Kingdom)

This story first appeared in the Information Point newsletter Our World in 2013, when Diana Manny told The Information Point about her family visiting Disney’s Animal Kingdom in Florida, after her son Luke, who is diagnosed with  X- linked myotubular myopathy, had a wish granted by the Make a Wish Foundation. 

Diana, Danin, Luke, Mikalela and Taylor.

Luke was nominated when he was three years old to receive a Make a Wish. He is a lover of animals especially elephants. Make a Wish after interviewing Luke offered to send him as well as our whole family to Disneys Animal Kingdom in Florida.

They started preparing by setting up the details of when we wanted to go. We choose October hoping that the weather would be mild enough for Luke to enjoy endless days at Disney. They set up a party where they presented his trip a week before the trip. The volunteers from Make a Wish came, decorated our home, brought Lukes favorite things to eat, pizza, lollipops, and lemonade. We then were presented the details of our trip. Seven days at Give Kids the World, three days at all four of the Disney parks, two days at both Universal Studios parks and a day at SeaWorld. Not to mention spending money for all the treats and souvineers Luke and his sisters desired. The next seven days Luke was filled with excitement like waiting for Christmas to come.

On October 17th in the early part of the morning the limo arrived. We all piled in and went on our way to airport. Flying was a blast. People from American Airlines were eager to help us on our way. At the end of night we arrived in Florida.

We were met with a volunteer from Give Kids The World who had our luggage already on a cart. He escorted us to our rental van and we were on our way to the resort. We arrived at Give Kids The World, Luke was the star. He was presented with his own Mickey Mouse and was promised that Mickey would be at the resort to meet him personally during our stay. We walked into our villa and on the table were presents for all the children. It was as if Santa had been there. We soon learned that Give Kids The World Village has a fairy that comes everyday and leaves gifts when you are out and about.

We spent the next seven days going to Magic Kingdom, Animal Kingdom, Hollywood Studios, and Universal Studios. Each day was filled with magic, from placing Luke’s special star in the wish tower at Give Kids the World Village to personally meeting Buzz Lightyear, Woody, Mickey Mouse and even Transformers.

I cannot thank Make a Wish enough for the trip. It was hands down the most magical special trip by far we have ever experienced. Lukes days were filled with magic in each and every day. No day was short of magic.

Luke was made to feel as if were the most important person on the planet by everyone he came across. He starred in a parade at Universal with Spongbob and got a high five from Mickey Mouse when he was in the Castle. His smile lit up the sky as much as the fireworks did.

Luke wasn’t seen as a sick child with a life threatening illness he was just a regular five year old boy who loved Buzz and Woody. The time he got to laugh and have fun with his family made it more special. He even went swimming in a special wheelchair at Give Kids The World and we got to meet another MTM family while we were there.

Its been an amazing journey the past five years since Luke was born. It is nice that Luke has been well and what a better way to celebrate that than by Make A Wish sending us on vacation. It was nice to say yes every day to the kids. To let them get whatever they wanted. Luke even bought treats for his classmates back home and his nurses. It was just a special time. Time that will be forever remembered no matter where our journey takes us. The memories are priceless and will be forever cherished.

Medical clearance must first be obtained for a wish to be granted.

Eligibility criteria and referral information can be
found on the Make a Wish Foundation website.

Now we are ten: Williams’s story

This story first appeared in the Information Point newsletter Our World in 2011, the year the Information Point celebrated it’s tenth birthday.  To mark the occasion, we asked some parents with children also celebrating their tenth birthday this year, to reflect on the challenges and achievements of their first ten years. William’s parents Erin and Mark continue the story below.

Our son, William

Our son William was born in 2001 and spent the first few months of his life in the Children’s Hospital Boston NICU overlooking Fenway Park. As fate would have it, he is a Red Sox fan for life! At four weeks old, doctors discovered that he has myotubular myopathy (MTM). At six weeks old, William received his tracheostomy and G-tube.

At four months old, William came home on July 3rd, which we will forever celebrate as ‘William’s Independence Day’! William has thrived at home and faces each day with incredible resilience and his strong will.

Even though William is unable to vocalize, he ‘speaks’ volumes. William uses sign language and assistive technology to communicate. He is also a wheelchair user. His presence and purpose in this world is palpable.

The beginning

At the beginning for us in 2001, we had not heard of MTM before and even some of the doctors knew it only from textbooks, which were not exactly encouraging in their prognosis. Our family had an opportunity to experience ‘being at the right place at the right time’ as we learned that one of the lead researchers in the world researching MTM was right at Children’s Hospital Boston.

Dr. Alan Beggs came to William’s bedside and shared vital information and resources on this rare disease. We will always remember not only the information he relayed to us about the disease but the gracious way he welcomed William into the MTM community and gave us a glimpse of hope through his commitment to this research.

Our foundation

Soon we learned that the Joshua Frase Foundation helped to fund Dr. Beggs’ research and as we were handed the JFF brochure, we were blessed with a beacon of hope, seeing Joshua Frase, the first boy with MTM that we ever saw. Joshua instilled us with an incredible sense of hope for our son’s future, as Alison and Paul Frase paved the way for MTM to find its way onto the research map.

Next, we sought out as much information as we could about MTM as we quickly learned the importance of being the greatest advocate for William. We discovered the Gail Herman research article inspired by John Scoggins, another of our family heroes and Pam and Gary Scoggins’ MTMRG website. We clung to every piece of information these resources provided that supported the thought that our son was a survivor and there were supportive treatments that we could embrace him with to help give him a full life at home.

At the same time William’s journey was beginning, Toni’s development of the Information Point for Centronuclear and Myotubular Myopathy was beginning to bloom. The stories of others that Toni gathered and posted for us provided an incredible sense of inspiration and hope, as her amazing work continues to do so today, 10 years later! These resources were the foundation to our journey that continues to expand and grow.

The amazing journey

An amazing ten years later, William is now in the fourth grade and has been fully integrated in our neighborhood school since preschool, with the necessary health and academic supports. He loves his friends, the Boston Red Sox and he even plays on a Challenger baseball team. William enjoys music and plays an electronic guitar and adaptive bongos. He is also a Cub Scout, likes to bowl and made his first communion two years ago.

William also has two very special dogs, Gracie and Simba, who have themselves participated in MTM research, as they come from a ‘family’ of Labrador Retrievers who carry the same MTM gene.

Even with his medical challenges, William has a very full and happy life. People that have a chance to meet our son share in saying that there is undeniable sense of love, grace and hope that exudes from him. He daily demonstrates his love of life, embraces his uniqueness and inspires all those he meets.

Ten years and Counting

While we celebrate every day with William just as he is, we also hold on to the hope that in his lifetime there will be treatments and eventually a cure for myotubular myopathy. We are very excited about the excellent progress that is being made in the research of MTM and related neuromuscular diseases. We have learned the importance of helping to strengthen our community, coming together to support each other and celebrating our loved ones affected by myopathies.

As a family, we look forward to supporting all of the ongoing efforts our community is making, whether it be connecting with other families through Facebook, helping with planning the MTM-CNM Family Conference, walking for the Beggs Lab, fundraising for the Joshua Frase Foundation, or participating in important research studies. We hold onto the hope that anything is possible and together we can truly make a difference. We feel extremely blessed that our son has brought us to such an amazing community and thank you for the past 10 years and counting!