Jacob and Luke’s Story

Jacob and Luke are happy and loving little boys. Jacob (9) enjoys Disney and Pixar movies while Luke (6) is still a fan of Sesame Street. With their Dad’s help, they adore rolling on the floor and “pretend” wrestling. Listening to books read aloud to them and snuggling are right up there of “favorite things to do”. Of course, they love spending time with their grandparents, too. The boys are very socially engaged with the people in their lives and have amazing senses of humor. They are full of giggles, laughs, and smiles despite the tremendous challenges of their disease.

In 2019, Jacob and Luke were diagnosed with an ULTRA rare Leukodystrophy, which is caused by a genetic variant on the DEGS1 gene. Essentially, they have a metabolic disease that prevents their bodies from producing sufficient ceremide. The deficiency interferes with normal development of myelin in their brains. Myelin is the coating on the “wires” in your brain that allow messages to be sent efficiently. For Jacob and Luke, the most obvious and drastic impact of their disease is on their motor function. Motor function impacts everything in life. They cannot sit, stand, walk or talk. They are in wheelchairs that others have to navigate for them. The motor function impacts their ability to swallow so they receive all of their nutrition via G-Tube feedings. The boys have historically had tremendous struggles with vomiting and stomach aches. We have tried many different foods and formulas. Jacob is doing much better from a gastrointestinal standpoint. We are still working on Luke. The boys are intelligent and very socially expressive despite being nonverbal. It appears that they are trapped in their bodies due to the disease’s impact on their motor function. Jacob and Luke also suffer from status seizures that occur during sleep. In the past, the seizures always required two ambulance rides and a hospital stay at Children’s Hospital. Recently we have found an emergency medication which has been much more successful in stopping the seizures at home which has reduced the emergency room visits and hospital stays, not to mention the length of the life-threatening status seizures.

Prior to 2019, my husband and I were on a painful rollercoaster ride trying to find a diagnosis for the elusive disease that Jacob and Luke have. When Jacob was born, he had no signs of his disease. I had a healthy full-term pregnancy and his apgar scores were excellent at birth. Looking back now, we might see things differently because Jacob had feeding difficulties, that never improved no matter what we did.

At two and one-half months old, we noticed nystagmus in Jacob’s eyes. We were referred to a pediatric ophthalmologist who diagnosed him with albinism and informed us that he would be blind. Jared and I were shocked and heartbroken. This was the first of many possible diagnoses that turned out to be incorrect. Please know when I say incorrect, I am not discrediting our wonderful specialists and medical care providers as many times their “diagnosis” accurately reflected the clinical presentation of Jacob and Luke’s symptoms.  The boys are fair skinned, blond and have beautiful blue eyes and pale retinas (all features which would clinically indicate albinism). Jacob and Luke’s skin, hair and retinas have developed more pigment over time and we are very thankful that their vision is much better than expected. Jacob was tested for all the known types of albinism and related syndromes. Test after test after test came back normal.

As a parent of a child with an undiagnosed disease, you are in a race against time and fighting an enemy that you do not know. You constantly think, “what if we discover the diagnosis is treatable but we find it too late?” “We cannot help our child find a treatment or cure from a disease without a name.”

Our sweet Jacob was subjected to a lot of blood tests, skin biopsies, MRIs and other testing under anesthesia. Again, everything came back normal. Among the many, many possible diagnoses, we were told that a virus, such as the bad cold that I had during my pregnancy may have caused Jacob’s condition.

We could write an entire book on this journey searching for a diagnosis. After Luke was born, he seemed to be doing well and we continued to focus our search on a diagnosis for Jacob. When Luke was two and one-half months old, he also developed the nystagmus in his eyes. Now that we had two children with the same unknown disease, the genetic testing and interest from specialists in helping us find a diagnosis increased.

In April 2016, we took the boys to Mayo Clinic in Rochester, Minnesota to be evaluated by Dr. Marc Patterson, pediatric neurologist, and other specialists. At that time, Luke was 1 and Jacob was 4. The boys were also accepted into the National Institutes of Health (NIH) rare and undiagnosed disease program. We traveled to the NIH in Bethesda, Maryland in that October.

Traveling with Jacob and Luke comes with many challenges. We stayed at the Children’s Inn and the hospital at the NIH for two weeks while the boys underwent rigorous testing to gather information about their clinical condition that might lead to a diagnosis. We discovered several difficult clinical diagnoses that we were not aware of prior to our visit. Some of the clinical diagnoses were important and helpful so that we could treat and manage some of these conditions including osteoporosis, scoliosis, and nephrocalcinosis. The descriptions of possible diseases based upon Jacob’s MRI was excruciating.

In 2019 with the help of Dr. Marc Patterson, Dr. Brendan Lanpher and their team of researchers at Mayo Clinic together with the collaboration with an international research team, Jacob and Luke were given a diagnosis of an ULTRA rare Leukodystrophy which is caused by a genetic variant on the DEGS1 gene (See https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391109/ and https://www.youtube.com/watch?v=6R76vepCY8c) In addition to the diagnosis, the research team found a possible treatment. The team believed that it was possible that the FDA approved drug Fingolimod sold by Novartis under the brand name Gilenya, which is used to help Multiple Sclerosis patients, might treat their disease. However, the treatment research stalled.

Today we are in the search of our lives to find a scientist and researchers who are willing and interested in continuing the possibility of this treatment. Jacob and Luke’s lives are dependent on this. In the meantime, we focus our energy by providing the best life for Jacob and Luke with love, a myriad of therapies, and constant care.