Patient Stories

Sarah's Story

Sarah is a young adult who was diagnosed in 2014 with the rare genetic condition MCAP when she was 17 years old. She is significantly impacted by MCAP and struggling to manage her complex medical needs. She was born and raised in Louisiana (USA) before relocating unexpectedly to live with her sister and brother-in-law in Florida in 2015. She currently resides in Tampa, Florida to receive medical care and therapies. Out of the estimated 300 known cases of patients with MCAP genetic disorder, she is one of a only a dozen known living adults over the age of 18.

All About Sarah

She loves the original tv show Blue’s Clues, especially with Steve. A close second would be Nick Jr.’s Little Bear, especially the intro song. She enjoys watching 1990s Nick Jr. cartoons on her iPad or watching her favorite episodes on repeat from DVDs \on her portable dvd player. If she could convince you to help her, she would want to watch both the iPad and portable DVD player at the same time. She uses an AAC device to communicate her needs and will often push buttons on her device to tell people “I want iPad DVD player”.

She loves pedicures with sparkly nail polish. Her all-time favorite color is blue. Can you guess why!? She loves getting her curly hair straightened. When she is in the car, she twirls it in between her fingers while looking at herself in the vanity mirror. Throughout the day, she engages in sensory exercises. She loves having her skin brushed and joints pressed. These exercises help her to feel ‘grounded’ as she often feels like her joints are loose and floating. When the weather is nice, she will swing outside while popping bubbles from a bubble machine nearby. When she is excited she bounces on a large exercise ball. To dance, she shakes her head and arms back and forth. She gets excited about music, good food, Starbucks frappuccinos, Chick-fil-A, and presents! She enjoys listening to a variety of music all day long! When she is stressed, she wants you to scratch her arms and hands for comfort. She often hums (signaling happiness) when you scratch her.

For recreation, she loves riding horses and swimming. Once a week she swims as well as goes horseback riding at a farm for people with special needs. The farm area is peaceful and the horses are gentle. Her favorite swimming activities are floating on her back and going underwater to pick up weighted rings. She has been swimming for three years, and we just recently celebrated her first year of horseback riding! Her favorite days of the week are when she gets to swim and ride.

Sarah lives with her sister, Jessica, and her brother-in-law, Mike. In 2017, they welcomed Dylan, Sarah’s nephew. Sarah and Dylan enjoy watching Blue’s Clues together in the mornings while Jessica makes breakfast. Dylan has been a wonderful addition to her family. Several times a year, Sarah’s mother, Renee, travels to Tampa to visit Sarah. Sarah returns annually to Louisiana to spend time “at home” and see family and friends.

Receiving a Diagnosis

In 2014, Sarah was properly evaluated by a Genetics Doctor for the first time. Before 2014, she did not have an overall global diagnosis that would explain all of her conditions and symptoms. Instead, Sarah has several diagnoses that were thought to be unrelated and unexplained. Sarah’s family was unsure if her complex medical problems were hereditary or caused by some other issue.

Jessica is Sarah’s older sister. For family planning, Jessica and her husband, Mike, met with Dr. Kathleen Pope at USF in Tampa to learn about Jessica’s risk as a carrier for these complex medical issues. Dr. Pope, Genetics MD, spent significant time coordinating care for Sarah and helping her family discover much needed answers. She coordinated with professionals at Tulane University in Louisiana. With the help of Dr. Pope, Dr. Eva Morava-Kozicz, and the professionals at Tulane University Genetics Department, Sarah was diagnosed with MCAP in July 2014.

To better understand the name, states, “This condition was first defined in 1997 as M-CMTC for macrocephaly-cutis marmorata telangiectatica congenita. In 2007, M-CM for macrocephaly-capillary malformation was proposed to more accurately describe the vascular involvement. A newer name, MCAP for megalencephaly-capillary malformation was proposed in a 2012 paper that is now widely used in genetics literature. These names, along with other variations, all refer to the same condition.”

Sarah received her diagnosis after blood samples were submitted to Baylor University College of Medicine Laboratory. Sequence analysis identified a c.274OG>A (p.G914R) mutation of the PIK3CA gene in Sarah’s blood. Her mutation appears to be somatic and not hereditary. The diagnosis of MCAP explained a great deal of Sarah’s medical problems. For the first time, her conditions were related and explained by this global condition. Sarah’s family can recall reading the M-CM website immediately after receiving the diagnosis. Everyone was shocked when reading that all of the symptoms of Sarah’s symptoms could be explained by the MCAP diagnosis perfectly. Receiving a diagnosis was an immense relief as it began to provide answers to numerous questions. It also provided reassurance to Jessica and Mike that Sarah’s condition was not hereditary. Sarah’s genetic testing was not covered by insurances and was costly to pay for out-of-pocket.

Sarah is severely impacted by MCAP. She has significant brain involvement with a great deal of abnormalities. She suffered a stroke at age 10 due to her vascular issues and around age 13, she developed intractable epilepsy. Currently, she has seizures that are not controlled by routine anticonvulsant medications. As she has grown, her brain and other organs continue to grow. Her oversized brain (megalencephaly) and large head (macrocephaly) are primary characteristics in MCAP syndrome. Daily she struggles with pain and fatigue. Changes in the weather and atmospheric pressure typically impact her intracranial pressure. Due to this, there are some days she can only tolerate bed rest.

Relocating for Care

From birth until age 18, Sarah lived in rural Southwest Louisiana with her Mom, Dad. Sarah grew up in the country surrounded by nature, wild huckleberries, and lots of outdoor pets. She was close to cousins and grandparents.

For Sarah’s 18th birthday, she was awarded a “Grant a Wish” from the Louisiana State Police Troop C Grant-A-Wish Foundation. In March of 2015, she traveled to Florida for her wish to go to Disney in Orlando to see Mickey Mouse. She stayed with her sister, Jessica, and her husband, Mike, while on this magical vacation. During the trip, Jessica and Mike cared for her and helped her to experience Magic Kingdom. They noticed that Sarah was frequently in medical distress during the vacation. She was having a difficult time breathing, swallowing, eating, walking and staying awake. She was taken to All Children’s Hospital where it was discovered she was passing out from aspirating on liquids and foods. At Tampa General Hospital, doctors also discovered that her VP shunt had failed after 17 years. She needed emergency brain surgery. Her medical condition was worse than her family or previous doctors in Louisiana realized.

Since 2015, Sarah has had additional VP shunt brain surgeries, Chiari malformation decompression brain surgery, and countless hospitalizations. She has received occupational therapy to address her sensory processing disorder and daily living skills. In addition to OT, she has received PT to address her gait issues, muscle atrophy, low muscle tone, and core strength. She is non-verbal with autism and global delays. Through Speech therapy, she has received a special computer tablet to communicate, called an AAC device. Her speech and ABA team help her learn the meaning of words and appropriate expression of words. She receives intensive ABA autism behavioral therapy in-home. She has private duty nursing care in-home to assist her with her medical care when not being cared for by family.

Sarah’s needs have been chronic and complex. Unfortunately, she had limited access to medical care, resources, and therapies in Louisiana. Her family made the difficult decision to keep her in Florida to receive urgent and ongoing care. Moving to Florida was unexpected for everyone and a difficult transition. Since moving to Florida, Sarah has received excellent care and access to services.

The Future

The future holds a lot of opportunities for Sarah and other MCAP patients. Sarah has many obstacles to overcome. She is resilient and beat the odds. We are thankful everyday that she is still alive and fighting. Her medical and therapy needs are urgent and important. Our hope is for her to have a good quality of life filled with friends, family, and happy experiences. Sarah wants to remain with family.

We need medical management guidelines for her care, along with more research for her local doctors to reference. Because we are unsure of her life expectancy or upcoming problems related to this condition, we need a surveillance monitoring protocol for Sarah. Early detection is key in resolving medical problems. In the long term, we want a drug that will help to reduce her overgrowth, especially her growing brain. We want to support efforts for drug therapy to inhibit the PIK3CA gene that is mutated in her DNA. Making genetic testing available and affordable to patient’s families is crucial to our patient community.

The place in which we find support is the M-CM Network. Sarah’s doctors reference the website often. This organization is our guide for connecting with other families, current information about MCAP condition, and a platform for building awareness about this rare condition. We are grateful for M-CM Network and the patient community on facebook for supporting Sarah and her family.

Submit Your Story

To submit a story, email Stories are curated by Heidi Frost.

About Heidi Heidi Frost lives in the United Kingdom. She is married with three children. The eldest, Jack, was pre-natally diagnosed with profound disabilities when Heidi was 28 weeks pregnant, although he was 8 years old before he was correctly diagnosed with M-CM. Jack is now 17.

Heidi is a full time Mum to Jack and his siblings, and spends her time caring for Jack, attending medical appointments and negotiating the minefield of obtaining necessary services for her son.

Heidi created a website about Jack in 2005 and found that telling Jack’s story was an incredibly positive and healing experience and she is looking forward to assisting other M-CM families to do the same. In her spare time she enjoys writing about her life with Jack on her website and spending time with her husband and children.