Help Harper Heal: Brain Surgery for Moyamoya Disease

One of the strongest little girls was born January 28th, 2018 in Monroe, WI. After Harper was sent home with her family, she was not eating or peeing and Heather, her mom, knew something was wrong. After scans were completed, Harper was rushed by MedFlight ground transport to American Family Children’s Hospital in Madison, WI., where her life would forever be changed…

Harper was diagnosed with bilateral hydronephrosis, mydriasis of the eyes, and a neurogenic bladder. Additionally, she had suffered a small brain bleed that had stabilized during her stay. Two weeks after birth, Harper had a heart procedure to fix the PDA valve in her heart that was not closing. Ultimately, this led to a 3 month stay at AFCH where Heather remained by Harper’s side the entire time. Harper’s admission was complicated by feeding goals and voiding (peeing) on her own. Before Harper was released, surgery was performed to place a G-tube for feeding and Heather learned how to perform sterile straight catheterization which Harper would need nearly 8 times a day in order to keep her bladder empty and her kidneys from retaining urine.

After Harper was released from AFCH, Heather was busy transporting Harper to multiple specialist appointments to monitor Harper’s progress. Urology, nephrology, genetics, gastroenterology, and ophthalmology were all following Harper intently for many years. A pyeloplasty (a surgical procedure that corrects a blockage or narrowing in the ureteropelvic junction) was performed to help decrease the chances of urine back flow into the kidneys. Heather was unsure what life would look like going forward for Harper, but she was determined to keep pushing for the very best outcome.

Although genetics testing was a big part of Harper’s story, at the time they were unable to find a mutation that connected these diagnoses to a disorder. A mutation known as ACTA2 was mentioned, but insurance would not cover the cost of the test, and unfortunately it was not affordable at the time. The best course of action at this time was to move forward, monitor, and treat symptoms of the disorders she was diagnosed with.

Harper is now a bright and bubbly 7 year old with the sweetest soul and the kindest heart. Her laugh is infectious, and she has grown into the most strong willed daughter who befriends every single soul she meets. On the medical front, she no longer requires a feeding tube or straight cathing, and has proved to be stable for many years until a tragic day recently in her little life.

On March 29th, Harper developed a severe migraine at night and leg weakness that was consistent with a Charlie horse. Unfortunately, she had no other symptoms and nothing was suspected. On the morning of March 30th, Harper became unable to walk or stand without using assistance, and the muscle tone in her left leg was severely diminished. Heather immediately transported Harper to the emergency room in Platteville, WI., where an x-ray and a CT scan of the brain were performed. After receiving results, doctors told Heather that Harper would be admitted back to American Family Children’s Hospital for more testing immediately.

After many hours were spent in the ER at AFCH, Heather learned that Harper had suffered a stroke. This was devastating news. Once Harper was admitted to the PICU, an MRI was performed that showed Harper had a large acute ischemic ACA stroke which caused contralateral hemiparesis (weakness/paralysis in her left leg). Harper was then diagnosed from imaging by the Neuroendovascular/surgical team with a rare disease called Moyamoya. Essentially, this disease shows that the carotid artery has extreme narrowing in an area that significantly minimizes blood flow to the top and front of the brain.

Harper was blessed to fall into the hands of the brilliant Dr. Aagaard Kienitz, Dr. Iskandar, and Dr. McLennan of the neuroendovascular surgical team at AFCH. Given Harper’s past/current health issues, the team was certain from day one that Harper has the genetic mutation called ACTA2 (which will soon be confirmed with genetic testing). The hospital course consisted of a lot of conversations, monitoring, and specialized imaging with a plan to move forward.

ACTA2 mutation is so rare that only 10 children in the world are diagnosed a year, and there are only 34 known cases in the United States. Harper will be #35 and studied extensively to help future children. Dr. Aagaard Kienitz and Dr. Iskandar proposed to perform a surgical procedure on the brain that they developed and pioneered 13 years ago named WASEDS. This procedure will indirectly revascularize the area of the brain that is not perfusing and “thirsty” due to the vasculature that is consistent with the Moyamoya disease. There are only 3 doctors in the world that can perform this procedure - the two on Harper’s care team that developed it, and their colleague in California. The team did not share how many times they have performed this procedure, but it is the only treatment option that has the potential to be safe and successful.

A more common approach is a procedure called bypass/EDAS, but it is very risky. Harper was supposed to have an angiogram which is an explorative procedure to visualize the vasculature up close. This procedure was cancelled due to the risk and high potential for another stroke. Instead, Dr. Aagaard Kienitz proposed to do a specialized 2 hour MRI/MRA scan with contrast to study the vessels for perfusion and anatomical structure. This scan showed that Harper does have quite a few aneurysms, which is one more thing to keep an eye on.

The plan forward is to go through with the WASEDS surgery which will take place on April 18th. Their hope is that the procedure will work, and things will improve for Harper. Realistically, we have to understand that not everything is black and white and the future is uncertain. The community, friends, and strangers are shining the brightest light on their darkest times. For that, there are many thanks being extended to all of you.

Heather has worked tirelessly raising 3 children while obtaining her Respiratory Therapy degree, graduating with honors, starting her dream career, and making sure to provide her children with the best life she can give them. It is time we relieve some stress from them and help Heather & Harper in these uncertain times. Any amount will help with transportation, bills, and expenses associated with Harper’s care and well-being while Heather is on leave from work and at Harper’s side. If you are unable to donate, a kind word, well wishes, and prayers work WONDERS. Heather will provide updates and pictures to bring you all along on this journey. All funds will go directly to Heather & Harper. Thank you for your time.

HarperStrong