The Journey Of A Butterfly! JEB Skin Disease

The journey of a butterfly

Tova Leah Larsen Born June 22, 2023.

Tova was born June 22 2023 at 39 weeks' gestation weighing 6lbs 10oz, delivered in the Swift current Cypress Hills Hospital. This hospital is small and serves the rural communities of southern Saskatchewan. Upon delivery it was noticed Tova had “sluffing” of the skin on her fingers. At that time none of the doctors or nurses were sure what the cause was. They took swabs of the fingers to determine if any infections were present. The swabs were negative and we were left with no answers. June 23rd Tova was released from the hospital after being seen by the pediatrician who “suspected” Tova to have Epidermolysis Bullosa. We were released with nothing more than a suspected diagnosis of a genetic disorder and no idea how to take proper care of this new born baby with major skin lesions on her fingers. A referral was sent to both dermatologists in Saskatchewan marked “emergency” to hopefully be seen quickly. Both Dermatologists are located in saskatoon. When Tova was 20 days old, we finally made the 4-hour trip to saskatoon to see dermatology where they looked at Tovas wounds which had progressed to her elbows, under her arms, her diaper area and her back and neck. Again, we left with a “suspected” diagnosis of Epidermolysis Bullosa and a requisition for a genetic blood test. 

October we finally got the call from the dermatologist that Tovas genetic testing came back with a defect on her LAMB3 gene. This gave her a positive diagnosis of Junctional Epidermolysis Bullosa.

Information about Junctional Epidermolysis Bullosa (JEB)

Junction epidermolysis bullosa is the more severe form of EB. From birth to early infancy individuals affected by JEB have blistering and sluffing of large areas of the body including the mucous membranes such as the lining of the mouth, esophagus, and digestive tract which can cause additional difficulties absorbing key nutrients required as a result many become undernourished and grow slowly. The extensive blistering leads to scaring and forms granulation tissue which is red, bumpy patches that bleed easily and profusely which causes infants to be susceptible to serious infections and the loss, if necessary, proteins, minerals and fluids. Granulation tissue can also build up in the airway and cause a weak, hoarse cry and difficulty breathing. It is often common in individuals with JEB to have fused fingers and toes and abnormalities in the fingernails and toe nails, joint deformities (contractors) limiting movement, alopecia, thinning of the enamel on teeth, and many more difficulties. Individuals with JEB often suffer from open wounds on the ears

and face that are difficult to bandage and heal as well as abrasions on the eyes. Prognosis for JEB is poor.

Back to Tova...

During the first few months of her life Tova was only able to be seen by the pediatrician in Saskatchewan once and was not able to be scheduled in to see her often enough to keep track of her weight gain and monitor her progress. After receiving her official diagnosis, we decided to bring her to Calgary to be seen by a pediatrician who made sure Tova was top priority. Tova was seen within 3 days of the pediatrician learning of Tovas condition and Tova was admitted to the Alberta Childrens hospital the next day for failure to thrive. Tova was 4 months old and had gained less then 1.5lbs since birth. We stayed in the hospital for 5 days. She was taken off breast milk and placed on a hypercaloric formula to help her gain much needed weight. She was put on an oral antibiotic to clear her of infections as well as a topical antibiotic for some of the areas the oral antibiotic wouldn't clear. We were taught how to give her bleach baths regularly, how to properly bandage her wounds, how to mix her hypercaloric formula, foods to feed her for healthy weight gain, essential vitamins she requires and much more. She met the pediatric dermatologist, dietician, pediatric GI specialist and wound care specialist, all of which came together to form her “team” of medical experts in the Alberta Childrens Hospital. Tova was then seen by the pediatrician and dermatologist monthly until she was gaining weight and not getting additional infections. At that time, she was seen by her specialists bimonthly. Since Tova was 4 months old, she has had 4 additional admitting's to the hospital and many trips to the emergency room. At any sight of fever or abnormalities from her “base line” we bring her in to the hospital due to the severity of her genetic condition. Tova has had many tests, exams and procedures; she has been poked and prodded at. She has had monthly appointments and many times a week we have spent our days in the Childrens hospital. She had a team through the rehabilitation center that consisted of an occupational therapist, multiple physiotherapists, eating/feeding/swallowing therapist all of which worked with Tova to help encourage her to play and explore toys, encourage her to crawl, stand, walk albeit the pain Tova feels on her skin when she tries to push up onto her hands and knees or the pain in her toes when she tries to stand has her very delayed in those areas. Unlike most children, Tova has to be held in ways that won't cause stretching or friction on her skin. Normal everyday activities are painful for her. Simple things like Diaper changes often take up to 20 minutes or more due to the tenderness of her skin often bandage changes are required if they get soiled. The average bath for Tova takes anywhere from 1.5-3 hours depending on Tovas skin on that day and it is always a very painful experience for her. Tova is on 2 antibiotics long term, alternating from one to the other every 3 months to ensure no resistance is built. She is also on a topical antibiotic. Tova has high nutrition requirements

that consists of a special and specific formula 3 times a day to ensure she is meeting her daily needs in addition to a high fat diet. She is also required to take additional Iron, vitamin D, Vitamin C with Zinc, multivitamin and probiotics. She has many open wounds all over her body and is wrapped in bandages on her arms, torso, and legs. She has open wounds where her nails should be on her hands and toes, her nails do not grow and the nail beds are all raw. She is now 18 months old!

Previously we were staying with family in Calgary as Tova had so many appointments and we needed to do what was best for her. Unfortunately, we were unable to continue to stay in the family's home and in May we were forced to stay in our 5th wheel camper with Tova and her 4 older siblings so our children could finish the school year. Due to the economy in Calgary, we cannot afford to stay living there. The cost was more than we are able to come up with to rent in or around the city so we asked her team of medical professionals for the OK to go back home to Saskatchewan. Tovas team agreed to continue seeing her as their client as Saskatchewan health care hasn't taken her diagnosis seriously enough. This would mean that we will be making the 600KM drive back and forth from home to Calgary at least once a month to ensure Tovas medical needs are being met. 

Tovas Diagnosis has had such an impact on our family. Our children love her dearly but they wonder why our baby has “owies” and if she will ever heal and be a “normal” baby, if she will ever crawl or walk or talk. The truth is, there is no cure for Epidermolysis Bullosa and many people in this world are impacted by this horrible genetic condition. People are constantly stopping us while we are shopping or out as a family to ask “what happened” and it breaks my heart to see the hurt she goes through on a daily basis. No mother, father, sibling, grandparent, aunt, uncle or friend wants to see the pain caused by epidermolysis bullosa. We are so grateful for every day we get to spend with our little butterfly baby girl.

Tovas medical needs are very high, her prescriptions, formula, clothing, creams and ointments, travel, parking, lodging all have been so costly for our family we would be forever grateful to be considered as a recipient for any donations collected.