The journey to diagnosis was most definitely not an easy one. Jacob (6 at the time) and Clara (4 at the time) were both diagnosed in 2018. The beginning of our journey started when Clara started struggling to see. When she was about to turn 3 we noticed she was holding objects very close to her face, so we took her to see our optometrist. We were informed that Clara was extremely nearsighted, -10 myopic. We thought it was odd as no one else in our family has vision trouble. After about 6 months we noticed her struggling to see again, while she was wearing her glasses. Back to the optometrist we went, this time her eyes read -18! Being concerned that there was something more severe going on I asked the optometrist what she thought it could be. She referred us to a pediatric ophthalmologist. Upon further investigation by the ophthalmologist, Clara was diagnosed with ectopic lentis or subluxation of the lenses. The doctor said there was a high probability it was caused by a genetic defect, and we should consider seeing a geneticist.
During this time her pediatrician suggested we test for food allergies as well as other possible causes to her drastic eye changes, such as autoimmune disease, inflammation, etc.; all of which came back abnormal. The test showed food sensitivities to eggs, dairy and gluten, but otherwise gave us no answers. Then the plethora of doctor appointments came: rheumatologists, hematologists, neuro-opthaologist, more and more tests, and blood work; but still no answers.
Then came a day where Clara began to vomit, and wouldn’t stop. The doctor was certain it was a stomach virus that would pass in 24 hours. 24 hours came and went and she continued to be very ill. She had become dehydrated and she was refusing fluids. Then she vomited bright green and I decided it was time to go to the hospital. After some tests we discovered she was having an attack of pancreatitis. Pancreatitis is exceptionally rare in children. The doctors said it was probably a byproduct of a virus, or she could be predisposed to pancreatic issues.
The following week we had an appointment with a rheumatologist. She looked at her medical history and labs. She was confident that she didn’t have an autoimmune disease. She did a Google search, that’s right, a Google search for a correlation between ectopic lentis and pancreatitis. She examined her previous labs again and told us she was quite certain that Clara had Homocystinuria. She told us a geneticist would be contacting us.
Within a few weeks we saw a geneticist who confirmed her diagnosis. We then began seeing a team of physicians and dietitians at UNC Chapel Hill. 5 months later the lens in her right eye became partially detached and was pushing forward through her iris. She had surgery to remove the lens at Duke University. She will be having the other lens removed as well.
Jacob and our other daughter, Aubrey were also tested for HCU. Aubrey tested negative. Jacob, however, tested positive. Jacob has always struggled with meeting most physical milestones (fine and gross motor, as well as speech). He would make progress and often times backslide. We never really understood why, until his diagnosis. We have definitely seen a lot of progress in these areas in just a few months post diagnosis. It is disappointing that HCU wasn’t caught during their newborn screens. Clara’s was actually a borderline high read for methionine, unfortunately we were never informed or told a retest should have been done.
Both children are doing great adjusting to their low protein diets. As a family we support and encourage them as much as we can. We are showing them how to make smart choices while dining out or at family/friends gatherings. We are also teaching them how to read labels on snacks/food. They both take Cystadane without any struggle (anymore). We mix it with either chocolate almond milk or lemonade. The formula is not an issue with Clara. We have found that she likes the HCU Cooler with the red lid, mixed with cherry limeade powder (TruLime). Sometimes Jacob tolerates the formula well, sometimes he has a difficult time getting it down. He usually does the HCU Express mixed with vanilla coconut milk, chocolate syrup, vanilla syrup, and peppermint extract.
Clara and Jacob encourage and support each other during doctors’ appointments, blood work, tasting new formulas, trying new foods, etc. It has been very sweet watching their bond grow through HCU. As much as we were sad when we found out Jacob had the disorder, we were able to find the silver lining, knowing that Clara isn’t alone in her diagnosis. When we told her he had HCU, her eyes lit up. My husband, Jeremy, found them in a full embrace. She later thanked Jesus that Jacob had homocystinuria. She loves having that connection with him.