Ultragenyx Patient Advocacy

Rare and UltraRare Disease

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Managing Daily Life

Juliet

During my 18 weeks of pregnancy, doctors noticed something different on the ultrasound and warned that my baby girl might be born with dwarfism, a genetic condition that causes someone to be considerably shorter than an average-sized person due to changes in bones and cartilage growth. I was referred to a specialist with training in high-risk pregnancy care and management. I saw the specialist after my 23rd week of pregnancy and began to have monthly amniocentesis tests to determine whether our baby has a genetic disorder or chromosomal abnormality. The doctor said nothing.

On September 20, 2016, my baby girl was born via c-section. We named her Juliet. Minutes after she was born, nurses rushed her to the Neonatal Intensive Care Unit (NICU) because our daughter was not breathing. I became concerned, and two hours later, a nurse came to talk to my husband and me. Hoping to hear good news about our daughter in the NICU, the nurse asked me: “Did you fall during your pregnancy, or did someone hit you? Your baby has 67 broken bones, and they are all in different healing stages.” We were absolutely in shock. I remembered crying all night in my room without holding my daughter.

“Did you fall during your pregnancy, or did someone hit you? Your baby has 67 broken bones, and they are all in different healing stages”

The next morning, I visited my daughter in the NICU and found her in an isolated room with IV lines around her small body, a feeding tube, and oxygen. My husband and I were not allowed to hold our baby for one week after she was born because doctors and nurses were concerned about us breaking her bones. She received around-the-clock medication for pain. During the third week, a doctor told us that she suspected that our daughter could have Osteogenesis Imperfecta (OI). The doctor sent Juliet’s medical history to an OI specialist in Utah and a week later she was diagnosed with OI. The doctor advised us to take our daughter home and start planning her funeral.

Before leaving the hospital, doctors ordered genetic testing, and we were told that results may take up to 8 weeks. Two months later, Juliet’s diagnosis was partially confirmed. She had OI, but a different type than initially suspected. The geneticist advised me to write a journal about my daughter to educate others about the condition. Today, Juliet has had eight surgeries, and we are preparing ourselves for the next one. Osteogenesis imperfecta has made a big impact on our daughter’s life by not being able to walk, having short stature, and knowing how fragile her bones are. Despite the challenges, Juliet has a strong personality and is very self-aware of her medical condition. She is 7 years old and likes the same things as other girls her age; she likes to wear purses, dress up, and play with make-up. She likes the movie Encanto, and her favorite character is Maribel. Our daughter attends school with a 1:1 aide; she is in first grade, and she does not enjoy when people address her short stature. She knows how little she is but does not need reminders.

Meeting other families with OI has been helpful, and we all give support to each other. Nobody will understand you as well as someone walking a similar journey. My advice to other families with OI is that your life does not stop after a diagnosis; it needs to move forward. It is ok to grieve the life that you are no longer going to have but start planning the new life you will be walking through. My hope for the future is for science to advance and to find a cure for OI.

Written by Paola, mother of Juliet

Cynthia

A Journey into Finding Answers

Our journey began in February 2021. Our daughter Cynthia presented a different way of walking than other children. We assumed that she was growing and that the problem would correct itself. We were concerned when Cynthia stopped wanting to run around with other children because her running slowed down. We made an appointment with an orthopedic surgeon and, after reviewing the x-rays, the doctor told us she had Perthes disease, a rare childhood condition affecting the hip joint from a lack of blood supply.

A few days later, we received a phone call from the doctor recommending a second opinion from another orthopedist doctor because he was not 100% sure about our daughter’s diagnosis. At this new appointment, the orthopedist doctor asked us if we would like to have a genetic test performed on Cynthia. The results of that genetic test plunged our family in a direction we never expected. We will never forget sitting at the genetic counselor’s clinic and listening in disbelief. Our precious daughter was diagnosed with MPS VII, also known as Sly Syndrome.

MPS VII is a genetic condition that is estimated to occur in 1 in 250,000 newborns. It is one of the rarest types of mucopolysaccharidosis and can cause skeletal abnormalities, mental disabilities and reduced function of the heart, lungs, liver, and spleen. Individuals with MPS VII tend to have significant problems with bone formation and growth. It is caused by a deficiency of an enzyme responsible for breaking down large sugar molecules called glycosaminoglycans (GAGs). The inability to break down GAGs leads to a buildup in many tissues and organs of the body.

Coping with an Ultra Rare Disease

Receiving the diagnosis of an ultra-rare disease was an unexpected journey and had an impact on our family. I recall going through an arduous journey of shock, denial, and grief. We began frantically researching Cynthia’s condition and looking for signs of hope. We visited a second genetic counselor to double-check our daughter’s diagnosis, and he confirmed the previous one. However, when he told us that just 10% of the approximately 7,000 rare diseases have a treatment and that we were among the fortunate ones, that gave us hope. Since Cynthia was diagnosed, we have done a lot of research to learn how to help her manage her disease. We have met other members of the MPS community, and we have attended family conferences to continue to support her and educate others.

Meet Cynthia

Our daughter is now 7 1/2 years old and has been an ongoing inspiration to those affected by MPS VII. She is a lovely child with a huge heart, friendly with everyone around her, and an animal lover. She receives her treatment at an infusion center. While home infusions are possible for our daughter, we would like Cynthia to know that she is not the only one with a rare disease and have an opportunity to meet other kids with different conditions who also need treatment. We hope that newborn screening becomes available for everyone for an early diagnosis.

By Amy Alix, Cynthia’s mother 

Michelle Fynan

Growing Up Fragile

I experienced my first broken bone when I was a baby. Shortly after, another leg fracture occurred, with little to no explanation. My parents were referred to an orthopedic surgeon and, to their surprise, I was diagnosed with Osteogenesis Imperfecta at 16 months old. OI did not run in my family, so it occurred due to a spontaneous genetic mutation. I experienced countless broken bones throughout my childhood and had several major surgeries. OI or “Brittle Bone Disease” is a rare disease characterized by bones that break easily, but many other body systems are also affected.  It’s caused by a change in a gene that affects bone strength and formation, as well as the structure of other tissues causing them to be fragile. According to the Osteogenesis Imperfecta Foundation (OIF), it is estimated that 25,000 to 50,000 people in the United States have OI.


My parents contacted the OIF (www.oif.org) for support after my diagnosis. The organization improves the quality of life for people living with OI and their families through advocacy, research, education, awareness and mutual support. Thanks to the foundation, my parents had the opportunity to connect with other families, learn about disease management, and find the latest medical advances. My parents became active members by going to meetings and conferences, and my mother became co-chair of an OI support group in Florida. She also served as a board member of the OI Foundation, and now I am currently on the board of directors, too.

Two daughters sharing the same diagnosis

My husband and I knew there was a 50/50 chance that our children could inherit OI. We discovered that my first daughter, Addison, had OI in utero when doctors saw that one of her femurs appeared to be healing from a fracture. My second daughter, Avery, was diagnosed with OI after she was born, as she displayed the same physical characteristics of OI that Addison and I share. My daughters and I have Type 1 OI, which is the mildest and most common form. With the help of improvements to genetic research, there are more than 15 different types of OI now.

Being diagnosed with OI has given me the opportunity to share my story with others. As a licensed mental health counselor, I specialize in working with others who are living with rare and chronic medical conditions. I recommend that families connect with organizations, such as the OIF, for support and to meet others with similar journeys. I also encourage parents to let their children explore their physical limits. The risk of fracture is a harsh reality, but giving our children developmentally appropriate freedom will help them learn to understand their boundaries and their bodies. My hope for the future is that we will continue to find new treatments that will further improve the quality of life for people living with OI.

Written by Michelle Fynan, PhD, LMHC, OI Advocate

Kylie

Our Little Warrior’s Journey with MPS VII (also known as Sly Syndrome)

Anyone who meets our youngest daughter Kylie always comments on her beautiful smile and playful nature. But these belie the significant challenges that she’s faced since before she made it into this world. During my last trimester of pregnancy, Kylie showed signs in utero of cardiomyopathy, a condition where the heart muscle weakens and is unable to pump blood to the rest of the body as well as it should. After she was born, she suffered from an umbilical hernia, jaundice, and a club foot, the last of which required a series of lash braces for three years.

At eight-months old, Kylie was diagnosed with her first rare disease, pulmonary arterial hypertension (PAH). PAH is a rare progressive disorder in which the small blood vessels in the lungs become narrow, causing high blood pressure in the pulmonary arteries. While there was no cure, there were plenty of treatments to try and a thriving community of families who surrounded us.

Another life altering diagnosis: Mucopolysaccharidosis type VII

Kylie's Family

When Kylie was almost five-years old, her cardiologist noticed some skeletal abnormalities, including short stature, an enlarged head, and a distended abdomen. He referred us to see an endocrinologist and geneticist. X-rays showed severe scoliosis due to a hemivertebra, which came as a complete surprise.

When we saw the geneticist, he looked at Kylie and said: “I can’t tell you exactly which type she has, but I’m pretty sure she has a lysosomal storage disorder.” A few weeks later in November 2019, we received a call with a new diagnosis of MPS VII. Also known as Sly Syndrome, MPS VII is a genetic metabolic disorder caused by a deficiency of the lysosomal enzyme β-glucuronidase that affects most tissues and organs.  

Oddly, getting her diagnosis was very comforting. We finally knew the reason at the root of all her symptoms. Learning about her rare disease gave us a new level of normal and an idea of how life was going to be moving forward.

Making rare connections with the MPS community

Within a day of receiving Kylie’s diagnosis, I reached out to the MPS Society, which has been amazing in helping us navigate our journey with MPS VII and introducing us to other MPS families. Quickly, we had new Facebook friends and opportunities to join MPS Facebook groups where we could reach out to others on a similar path. Once again, what could have been a very isolated journey with a rare disease was full of helping hands. We feel so supported and grateful for our MPS friends and the members of the rare disease community.   

Newborn screening offers hope with early diagnosis  

I have high hopes that newborn screening pilot programs for lysosomal storage diseases will improve the outcomes of babies born with one of these disorders. We waited five years for a diagnosis and spent many nights in frustration, trying to guess why our daughter was having so many unrelated issues. Imagining a future where families can leave the hospital with a diagnosis and treatment is incredibly beautiful. Early diagnosis can drastically improve lives.

By Suzanne, Kylie’s mother  

Amanda

March 22, 2017 was my (then) husband and I’s 4th anniversary. I woke up that morning feeling like I had the flu yet again. I remember wondering how it could be possible that for the last four months I had been getting the flu like clockwork, except this time I was disoriented and dizzy. I felt as if the room was spinning, but it was actually my head that was moving of its own volition. That was the first of many days I wouldn’t be able to work as the symptoms worsened with involuntary movements and chronic pain, making it so I would have to crawl from one room to the next.

The first two doctors I saw only looked at my age and gender to decide it was just “nerves or stress.” I felt so unheard, frustrated, anxious, and alone in this battle for my life. After confounding my fourth doctor with my symptoms, I wondered if I’d ever have any real answers. When I finally found a D.O. (Doctor of Osteopathic Medicine), he told me, “No one knows your body better than you do; you live in your body every day.” He heard my concerns and saw my lack of muscle control. We ran tests, and I visited some specialists until I was diagnosed with Wilson Disease. In the end, I saw a total of eight doctors before my diagnosis. I was so glad that we kept fighting until we had an answer.

I was relieved to find I had Wilson disease, yet I was overwhelmed with questions and changes to be made. Words like caregiver and disability were thrown around; my identity felt stolen. And oh, the questions… Why is my body collecting copper like a hoarding kleptomaniac? Is there a way to make my body eliminate all it’s been keeping in random organs, especially my nervous system? It turns out there’s a way to help the body, through chelation and managing a low-copper diet. I started to see how food truly fuel is. Initially, it was hard to give up my favorite foods, like chocolate. I never imagined how many foods are high in copper, such as nuts, chocolate, and avocado. Finding low-copper foods to substitute for high-copper foods has been an adventure.

Outside of the kitchen and medication, I have found devices that help me cope with Wilson symptoms; one of my favorites is a heating pad to help with tight muscles and pain relief. I battle many other intermittent symptoms, such as migraines, fatigue, brain fog, and loss of control over my movements and speech. Wilson disease has drastically changed my life. I face different challenges and triumphs that change not only daily, but minute by minute. I wake up wondering, “Will today be a good day, a bad day, or a mix of both?” Good days or hours are characterized by minimal pain, little to no tremors, and/or having enough energy to do more than one task. Days like these are rare, but while they last, I do what light housework I can or work on a new sewing project. Bad days or hours are when I have such intense pain, tremors, stuttering, fatigue, and/or brain fog that I need extra aids to help me get through the day. I reserve some things for my more challenging days, so I have something to look forward to, like binge-watching a new show and extra cuddles with my dog, Ellis.

While living with Wilson disease is not easy, it neither defines me nor is it the end of my story. In some ways, I feel blessed to have this “thorn in my side” (2 Cor.  12:9). I have learned so much and had so many opportunities to meet and encourage others. In sharing my story, I hope to help light the way for others living with rare conditions and their loved ones, that they too would see this is not the end, but the beginning of a new chapter in their life. To remind them, they too have the choice to overcome it or let it overwhelm them. We aren’t on this journey alone; we need to draw our community closer, from our doctors to our families to scientists developing new ways to improve our lives to friends both human and furry. Dear friend, you did not lose your worth with your diagnosis. You are special, you are unique, you are literally one in a million, and you are worth it!

Written by Amanda Elsts 

Reyna

One Day at a Time with CDKL5 Deficiency Disorder (CDD) 

When we first found out that we were having a baby in 2017, we were overjoyed. The pregnancy was full term with no complications. We did every test offered to us, including all genetic tests to make sure there were no complications. After a scare of an emergency c-section, we thought all of that was behind us when we finally went home in two days with a seemingly healthy baby. 

Who knew it would all change so quickly in only 20 days! Reyna started having abnormal, brief hand and eye movements that were difficult to video record. We were hoping that they were just baby movements and would go away. We managed to finally capture the movements on video and share the video with our pediatrician. 

I will never forget that day. We got a call from a neurologist within minutes of sending the video. She wanted us to bring Reyna in right away to the hospital for an EEG (an electroencephalogram is a recording of brain activity). 

That started our road down endless tests. Blood work, MRI, EEG, genetic testing. We got our answer in two months: a VOUS on the CDKL5 gene. All the letters sounded alien to us. Reyna has a Variant of Unknown Significance (VOUS) on the CDKL5 gene. The doctor explained that even though Reyna had a deletion on the CDKL5 gene, there was a chance she may outgrow it. However, after three antiepileptic drugs did not control the seizures and us parents tested negative for the same variant, the doctor confirmed that the CDKL5 gene deletion was disease causing and Reyna would not outgrow it. 

Searching for answers 

One piece of the puzzle was solved, but that brought on so many other questions. What are the treatment options? What does the prognosis look like? Will Reyna live like other children? Are we doing something that is triggering the seizures? What do we do to stop them? What do we not do? Among these questions and taking care of a non-stop seizing newborn, hospital appointments, therapies, and insurance issues, we were beyond overwhelmed.  

Our first focus was to stop the seizures. Little did we know that epilepsy due to CDKL5 deficiency disorder (CDD) is very difficult to manage. We changed from one medicine to another like a kid trying flavors in the ice cream shop. Neither of the options available then worked, and Reyna started losing her head control as a side effect of one of the AEDs. The question on our mind was: is this is a side effect or the natural progression of the disorder? Upon starting the ketogenic diet which completely stopped the seizures at the time, we worked on a plan with the neurologist and weaned Reyna off all the medicines.  

Little did we know that developmental delays are the bigger challenge. Reyna is not developing like other children. We’ve tried everything under the sun – different supplements, different diets, therapies, alternative medicines, anything we come across that may stand a remote chance at helping our little girl live a better life. Nothing seems to help.  

We focused on intensive therapies, which included physical therapy, occupational therapy, speech therapy, aqua therapy, music therapy, and hippotherapy, and Reyna started making slow but steady progress. Reyna began to sit independently at age two, standing, taking supported steps, eating table food, clapping hands when happy, saying amma (for mom), dadda (for dad), hunga (for hungry). However, this cruel disorder took all of this from us overnight. We are told that CDD is not neurodegenerative. Then what happened to Reyna at age three? There are so many other parents who’ve experienced similar ‘regression’ in their children but do not have an explanation. No one knows. This is one of the most frustrating parts of CDD: there’s not enough answers.   

Even after four and a half years of dealing with CDD, everything is still unpredictable. This disorder is always two steps ahead of us. The CDD prognosis doesn’t look good. Since there is no cure, seizures keep coming back with other issues – sleeplessness, decreased muscle tone (hypotonia), gastrointestinal issues, breathing, scoliosis, cardiac, kidney, everything. Some of these complications can be fatal.  

Seeing her seize every day, being in so much pain, not being able to swat at that fly that’s bothering her, or express her feelings to us, feels like she is trapped in her body and that is heart breaking. Today, we’ve gone back to doing intensive therapies again, day in and day out. This seems to be the only option that helps a bit. Reyna seems to be almost ready to sit again, but she’s not sitting yet. We don’t know how long it may be before she starts sitting again – a few days, a few weeks, a few months, a few years, no one can say. As we look to the future, seizure control and developmental gains are two of the most important outcomes that we hope a new treatment option can address. That is our only hope now, taking one day at a time

Written by Jainu, Reyna’s father 

Cindy and Matthew

Matthew was diagnosed with OI at birth. Since then, he and his mother, Cindy, have traveled around the country to find doctors who understand the condition. Hear more of their story in this video!

Tiffany and Wil

Our story began 14 years ago when my son, Wil was diagnosed with Duchenne muscular dystrophy. When a child is diagnosed with a terminal illness, a definitive line is drawn in what life was and meant before diagnosis and what life is and means after diagnosis.

The years leading up to the birth of my two children were spent servicing other children with varying exceptionalities as a speech-language pathologist. I can clearly remember the shift in my career performance once I had children of my own. There was a marked increase of understanding another’s perspective. I was able to better understand parents’ worries, frustrations, joy, and triumphs. It wasn’t until my son was identified as a child with special needs when I completely understood. The difference was, however, my son was diagnosed with a life-ending condition. This was unfamiliar territory for me from any perspective.

“At the time of his diagnosis when he was a tender 7 years old, he often questioned, ‘Why am I slower than my friends? Why can my little sister run faster than me? Why do my legs get so tired?’”

In a sense, my life’s path prepared me for this journey with Duchenne muscular dystrophy. For my son, the diagnosis provided a sense of relief.

The diagnosis lifted the emotional burden he carried all those years before and gave him answers to his questions. As for me and our family, the diagnosis brought fear, grief, denial, and frustration. Emotions were fragile and everyone was in a different mental place – never the same place at one time. We became hyper focused on the ins and outs of the disease and tended to lose focus on living in the now.

“All the while, Wil continues to smile that infectious smile.”

The progression of Duchenne has led to a loss of Wil’s physical abilities to run, jump, stand on one leg, hop on one foot, rise from the floor, and climb stairs, and walk. Psychosocial effects have included adjustment and depression, coming to terms with the progression of Duchenne, asking ‘why me?’, avoidance, and anxiety. Cardiac effects have included decline in ejection fraction of the left ventricle. Sleep has been impacted over the years including insomnia and sleep apnea.

“In the beginning, we focused on what he was going to lose. Once we saw what he provided to those around him, Duchenne became just a part of who he is rather than his whole identity.”

Despite all that Duchenne has taken from Wil, he continues to exude humility. He has taught us all to truly live in the moment and simply, be happy. A wonderful friend told me those many years ago that Wil was equipped for the journey and reminded me to let him take the lead. And so, we did. As he has grown into an adult, we have admired his Determination, his Undefeated spirit, his Compassion, his Humbleness, his Empathy, his iNtelligence, his iNtuition, and his Endearing smile.

I implore you to embrace every moment, focus on abilities, and let him lead the way.

LC-FAOD Community Voices

When you live with a rare disorder like an LC-FAOD, it can feel lonely. Check out this video from LC-FAOD community members around the world to hear their experiences and how they manage the condition day to day.

David

Facing My Condition

I am short and bow legged—two common symptoms of a disease I did not learn about until I was 33 years old. In fact, I first heard of X-linked hypophosphatemia (XLH) when my 16-month-old daughter was still not walking and was falling repeatedly. Fortunately, her pediatrician had read about a rare genetic disorder called Vitamin D Resistant Rickets, another name for XLH. He referred us to Virginia Commonwealth University Medical Center, where we were both diagnosed with XLH and enrolled in clinical studies.

When I spoke with physicians about XLH, the symptoms I had experienced since childhood suddenly made sense. Without proven treatments for the disease, I did not know what the future would hold for me. However, I knew that my condition did not limit me prior to the diagnosis, and I was determined that it would never hold me back.

Living with the Unknown

“I learned to live with my physical limitations and continued to do whatever I wanted. I served in the U.S. Navy for two years during my late teenage years as a storekeeper and later attended college.”

I was raised in a poor family as the oldest of seven children. Despite my bowed legs, short stature, and barrel chest, I was best known for climbing trees and riding my bicycle everywhere. However, I was lousy at sports as I could not run very fast. My schoolmates sometimes made fun of my legs, calling me mean-spirited names. Pediatricians told my mother I probably had rickets and needed to eat foods with more Vitamin D. There was no family history of rickets and none of my siblings had similar symptoms.

I traveled extensively during a 36-year journalism career, spending the last two decades in the Far East as a reporter for Stars and Stripes, the daily newspaper for the military community. I even parachuted out of a plane as part of a story assignment – the thrill of a lifetime. The only thing I did not do was cover wars. I told my editors that I could go but couldn’t run away if attacked.

Watching my Condition Progress

I remained fairly healthy until 1997 when, while snorkeling off the coast of Okinawa in Japan, I suddenly lost all feeling in my left leg. After months of tests, doctors found that excess bone growth in my spine was pressing down on the nerves. I had a 16-hour spinal stenosis operation, which restored feeling and my ability to walk without a cane.

Doctors at the U.S. Naval Hospital had read literature that showed there was no approved medication for adults with XLH and that I would probably need more back operations as I grew older. That has proved to be true – I have since had three more. Today, I walk with a cane and am limited to over-the-counter pain medications to manage my symptoms. My recovery from the last two operations resulted in limited mobility and chronic back and neck pain especially, after walking or standing for long periods. I am three inches shorter after my last operation.

Since diagnosis, I have had other health issues that I now realize were probably associated with XLH – though nobody made the connection at the time. In 1991, I was diagnosed with Meniere’s disease – a disorder of the inner ear – after episodes where I would feel dizzy, nauseated and fall. I subsequently had a corrective shunt implanted behind my right ear to drain excess fluid believed to cause the condition. I have had a history of dental problems, losing my front teeth at the age of 20 and wearing a number of partial plates. I now wear dentures.

I recently retired and moved to Indiana, where my daughter now lives with her two sons – ages 13 and 11. My daughter has a worse case of XLH than I do. She broke both her legs and had them reset while in her teens and has had bone grafts and pins inserted into her lower legs. Both my grandsons have XLH and have had surgeries on their legs. Despite the challenges, there is nothing more fulfilling than the time we spend together.

Looking Ahead with Hope

“I am not sure what the future holds, or how my condition will progress over time. Yet that does not stop me from living a full life.”

I still love to write. I am the editor of an online poetry arts magazine called Indiana Voice Journal and have published two books on poetry. I am working on increasing my strength by exercising at home.

I’m also lucky to have the love and support of my daughter and online XLH groups.

My advice to people with XLH is to seek support from others with the condition. Research the condition as much as you can so you know what you are up against. I hope that researchers will find a medication for adults with XLH. In the meantime, we cannot let the condition limit us.

Written and submitted by David

Cheryl

At age two, Cheryl’s parents noticed that her legs were bowed. Throughout her life, she had seven surgeries in an attempt to straighten them. In the beginning, a physician told her parents that X-linked hypophosphatemia (XLH) was a childhood disease that would correct itself, but that is not accurate. This experience taught Cheryl that finding the right healthcare team is crucial. As an adult, she keeps active, and she’s found that having a positive attitude makes all the difference. Cheryl can’t control her symptoms, but she can control her attitude, and she’s not letting XLH stop her!

Matthew

My name is Helen. I am from the Empire State (New York), where I happily work and live with my husband. I have three sons, Francis, Paolo, and Matthew. My youngest son, Matthew, was diagnosed with a rare disease called Sly syndrome (MPS VII).

Matthew was born prematurely at 34 weeks with multiple health concerns that required him to have spinal cord surgery and stay in the Intensive Care Unit (ICU) for four months. After his release from the ICU, he was sent home with a pulse oximeter, a device to measure the oxygen level of the blood and some medications, but his asthma attacks required frequent trips to the emergency room and many days in the hospital. One time, we brought Matthew to the emergency room because he couldn’t move his arms and legs. Doctors examined him and did not find anything wrong with him.

“Matthew is loving and very sociable. He loves to spend time with family and friends. He has his own way of communicating with people, including his own language, which his family and very close friends have learned. Despite his current condition, he enjoys attending classes held at the hospital.”

We received Matthew’s diagnosis after a geneticist ordered genetic testing for him. He was diagnosed at 17 months with an ultra-rare disease called MPS VII, also known as Sly Syndrome. It is a genetic disorder that causes reduced function of organs such as the heart, lungs, liver, and spleen, as well as skeletal abnormalities and mental disabilities. It is considered an ultra-rare disorder because it affects fewer than 100 people in the U.S.

Since his diagnosis, Matthew has resided at St. Mary’s Hospital for Children in Queens, NY, to receive the necessary medical attention. Up until 2011, he was allowed to spend a small amount of time with family outside the hospital during the holidays. As of today, Matthew cannot leave the hospital. His health condition took a critical turn in October 2013, when he was living in the hospital and was no longer able to breathe on his own and needed the help of a respirator. As his mother, it was heartbreaking to learn that my son was no longer allowed to leave the hospital.

Matthew’s doctor advised me to take it one day at a time. And this is how I have been coping with my son’s condition. At the hospital, he has the medical care that he needs, has enjoyed taking classes, and is happy when family members and friends visit him. In 2010, at the age of nine, Matthew stopped walking. He could not walk with the support of a walker anymore, and he became a wheelchair user. Matthew currently requires the use of a ventilator 24/7. He is not able to eat orally, as it may cause aspiration, but he is being fed through a G-tube.

In October 2022, Matthew celebrated his 21st birthday. He is very social and loves to be around his family and friends, offering them his biggest smile. Matthew likes to interact with his brothers, Francis and Paolo. He is unable to verbally communicate, so he has his own way of communicating using a board with pictures. Matthew is currently taking classes at the hospital and is active and engaged in class. His quality of life right now is much better than before. He is more alert and has more energy. I’ve decided to share my son’s story to inspire others, and my hope for families living with MPS VII is to keep them hopeful and to never give up.

Written by Helen Evangelista

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