Aislinn, the Little Princess of CHF (An ARPKD-CHF Family Portrait)

May 18, 2012 / The ARPKD/CHF Alliance / 1 Comment / Uncategorized

Princess Aislinn

By Kathleen M. Krueger

Princesses are rare these days, but so is the name Aislinn. Therefore it is quite fitting that I should should call my granddaughter, Princess Aislinn. The domain, she reigns in, the land of CHF, is even rarer among children than her name or the title of princess.

Aislinn was always small, still wearing a size 3T when she entered kindergarten. Her dark brown eyes sparkled in her little round face and her rounded belly just added to her cherub-like appearance. Aislinn’s older sister was also very petite in stature, so her height never concerned her mother. But when Aislinn began first grade, and moved out of the smaller environment of kindergarten, all of sudden, it seemed that everyone and everything around ‘Little Aisie’ (as her friends referred to her), was getting bigger and out of reach, while Aislinn lagged behind.

Aislinn’s pediatrician became concerned as well. Rather than growing slowly, Aislinn seemed to have almost stopped growing. She appeared healthy and full of energy; her extremities were fully proportionate to her body size; she was just small.

After eight months of testing that ruled out everything from celiac disease to growth hormone deficiency, Aislinn was now being seen by a pediatric gastroentologist. She had an abdominal CT scan, which showed nothing abnormal accept a strange texture to her liver. That was followed by an endoscopy and then a liver biopsy on the day before Thanksgiving in 2008. The surgeon found Aislinn’s liver difficult to biopsy. The doctors diagnosed Aislinn with CHF, Congenital Hepatic Fibrosis.

CHF usually develops in children who have been diagnosed with ARPKD, Autosomal Recessive Polycystic Kidney Disease, a rare genetic disorder that eventually causes kidney failure and liver abnormalities. It is extremely rare to develop CHF except as an extension of ARPKD, so the two are almost always spoken of together. But, as we said at the beginning of the article, Aislinn is rare, and to date, has shown no kidney involvement.

Since even Aislinn’s specialists at the Minneapolis Children’s Hospital knew very little about this rare disorder, her parents took it upon themselves to find out what they could about what was happening inside that little rounded belly that housed an unhealthy and enlarged liver.

Almost immediately, Sheila, Aislinn’s mother, discovered ARPKDCHF.org and its wealth of resources regarding the medical condition that her daughter had been diagnosed with. What a relief, for Aislinn’s young parents, when even the ‘specialists’ had only read about, and never seen, a child with the medical issues that their daughter had been diagnosed with.

It was through ARPKDCHF.org that they found out about the study going on at NIH regarding these disorders, and within the year, Aislinn, her parents and her 3 siblings were flown to NIH to spend a week there participating in the study. The information and support their family received from the many specialists they met with that week have been invaluable in the development of treatment plans and emergency preparation plans for their family.

It was also through ARPDKCHF.org that Aislinn’s parents were able to connect with other families dealing with the same fears and medical issues that are a part of the journey when you have a child with a rare genetic disorder.

Princess Aislinn now has a height and weight similar to cousin of the same age (and has finally lost some of her baby teeth). She has undergone growth hormone treatments that have helped her body to mature properly. Aislinn loves to run, to collect a variety of items and also loves animals, especially her dogs, Oscar and Bear, and her cat, Prince Edward (Eddie for short). Instead of a crown, this princess wears a medical bracelet that identifies her disorder, but she lives life with a smile and has learned to take her many doctor visits and her daily ‘pokes’ into stride. Would you expect anything less – from a Princess?

(Kathleen Krueger is a full time freelance writer, and as a part of the ARPKD/CHF Alliance family, she has made herself available to write “Family Portrait” articles for our blog. If you would be willing to share your story with Kathleen for a future posting, you may contact her directly at kathleen@kmkrueger.net)