February Featured Alexander Disease Patient
written by Anna’s mom, Jennifer
Anna Walentowski will turn 23 in February.
Our journey with Anna’s Alexander Disease diagnosis began over 21 years ago. During infancy Anna had some feeding difficulties, was slow to achieve gross motor milestones and her head size increased rapidly between 4 and 12 months while her weight started dropping off her curve. Her pediatrician recommended a brain CT scan at 15 months, then MRI at 18 months of age. The results revealed “an abnormality of the white matter consistent with leukodystrophy”. Radiologist mentioned AxD, or possibly Canavans. After the pediatrician delivered the news and explained typical outcomes with leukodystrophies, we were heartbroken! We knew Anna had delays, but never dreamed she might have a devastating disease. We turned to our faith and the support of family and friends and cried a lot! Within a week of receiving test results Anna was to be seen by a pediatric neurologist at a well-known University hospital. The day before our visit, my scripture reading for the day was Psalm 16, and verse 8 became foundational: “I have set the Lord always before me. Because he is at my right hand I will not be shaken.” I decided this was directly from God, for me, and that I needed to put him first and trust He would be with us no matter what was to come.
The neurologist thought Anna’s condition might be Alexander Disease but an atypical leukodystrophy presentation that he found puzzling. He also said, “based on how her brain looks she should be a vegetable, and clearly isn’t”. And that she is “functioning very well”. This gave us some hope, and we thought perhaps we won’t ever see the full unfolding of the disease. He ordered more tests and Canavans was eventually ruled out. Since the blood test for AxD did not yet exist in 1999 we were offered a brain biopsy for definitive diagnosis. We declined since Anna was functioning so well and didn’t seem sick. The next few years were focused on therapies, early childhood classes, enjoying her, and welcoming her baby sister into the family. Feeding and elimination problems continued, and she began growth hormone treatment, but overall, she continued progressing in all areas of development.
By age five to six we started to see more significant problems. Anna didn’t eat and drink normally, she had more bowel and bladder issues, and after a short bout of influenza, didn’t regain her healthy color. She lost a lot of weight. She was first hospitalized for dehydration, constipation, and inability to urinate. We came home with a new list of things to do to manage these problems, but after one month with not much improvement she was again admitted to install a feeding tube. The planned short stay became a 12-day impatient stay with lots of testing done including the now available blood test for AxD. Four months later we got the positive result. Her health and our lives were in a strong downward spiral. Everything was going wrong…she stopped eating orally, she vomited the tube feeds, reflux was terrible, she barely slept, coughed frequently and had severe dizzy spells. Eye problems and scoliosis developed and worst of all, laryngospasms that partially or completely blocked her airway resulting in many emergency room visits and inpatient stays. In one year, she was admitted nineteen times.
We were then referred to a new department at our Children’s Hospital: The Special Needs program now called Complex Care. Dr. John and his team became a lifeline for us in managing the difficult symptoms of Alexander Disease, making important decisions as well as coordinating the care from the many specialists Anna now needed. They helped us focus on her quality of life, and truly blessed us with their presence and expertise so we felt we were not completely alone in the ongoing medical crises. They became friends and still support us as we now transition Anna to adult care providers in our local community.
Somewhere in this year of agony (2005) a friend told me her neuroscientist sister had just attended a conference and the presenting researcher had discussed his work on Alexander Disease. She recommended we get in touch with him…Dr. Albee Messing. We contacted him, and another lifeline was established. Albee was happy to share any insights he had about AxD but said there was not anything specific regarding treatments on the horizon. He recommended the ULF for support, as well as a leukodystrophy specialist at Kennedy Krieger in Baltimore, and made himself available if we had questions. The Waisman Center AxD bibliography also helped us better understand the disease, and I used it often to discern what kind of symptoms other AxD patients had. We keep in touch with Albee and he is always gracious and prompt to reply. We are so thankful for him!
After a few years of intense symptoms and progression, Anna got better. She had a tracheostomy done to manage the laryngospasms, we started her on new supplements and tube feeding, and slowly many symptoms improved or disappeared. She started growing again and walking unassisted, and reflux dramatically improved. She was able to attend school again nearly every day, enjoy family trips and camping and simply be a “normal” girl as much as possible. Sweet blissful years J
In the past ten years Anna has been happy and lived every day to the fullest! Even though AxD has slowly progressed, stealing skills and function, she perseveres with every exercise, every school assignment, and every event. She loves being with people and has a great sense of humor. She loves music and is frequently snapping her fingers with a song in her head or from the radio. She has a special “Albee cheer” (arms raised and pumping like a bench press exercise, saying “Albee, Albee”) and now includes Dr. Amy Waldman as one of her favorite people!
In 2016 we learned of the work Dr. Waldman, Albee and Elise’s Corner were doing to bring a viable treatment to patients and traveled to CHOP in 2017. Anna began participating in the Natural History Study, and we were grateful and excited to connect with Dr Waldman and her team. The connection and collaboration of patient families, researchers and clinicians is truly amazing to see unfold, and we are very hopeful for the upcoming clinical trial. I often reflect on the research results in mice (published December 2018) where GFAP dropped to almost zero, Rosenthal fibers disappeared, and there was improved body condition! After ONE injection?! Amazing, amazing.
Happy Birthday sweet Anna!