Alstrom Syndrome

Overview:
Alstrom Syndrome is a rare genetic disorder, affecting only around 800 medically diagnosed people in the WORLD! Alstrom Syndrome leads to blindness, deafness, heart, kidney, & liver failure, obesity, diabetes, & infertility. There are many other clinical features of Alstrom Syndrome that vary from individual to individual, but these are the main symptoms.

Symptoms:

• Dilated Cardiomyopathy


• Blindness-Cone Rod Dystrophy, Photophobia, Nystagmus


• Deafness-Sensorineural Loss


• Short Stature


• Type 2 Diabetes--develop in late childhood/early adolscence


• Obesity


• Hyperphagia


• Abnormal blood lipid panels in childhood+

Tests/Diagnosis:
Lab work to diagnose, test on different organs as symptoms arise and prove the need for monitoring

Treatments:
Treat each disease/disorder as it arises and progresses

Resources:
www.alstrom.org
Alstrom Syndrome International

Personal Story:
When Brooklyn was only 7 weeks old, she quit breathing one Sunday in church. We rushed her to the hospital & was told she may have had an allergic reaction to perfume. Even though they couldn't get her blood pressure or oxygen stats, they sent us home to follow up with her Pediatrician the next day. When we arrived at her Pediatricians office, she was breathing so hard that when they put her on the scales to weigh her, the scales were hitting the wall. This alarmed our Pediatrician & he immediatly called for the ambulance to come transfer her to Huntsville Womans & Children Hospital . When we arrived at HW&CH, she went into shock & was put on life support & was not expected to make it through the next few hours. After extensive testing, it was concluded her heart was enlarged, & her kidneys & liver were both enlarged & dropped, which meant her body was shutting down. After a week at HW&CH with no improvements, she was then transfered to Vanderbilt Children's Hospital in Nashville to have a biopsy done on her heart muscle & MORE extensive testing. At Vanderbilt, we found out she had Dilated Cardiomyopathy secondary to Congestive Heart Failure, & also Nystagmus (shaky eyes). She was at Vanderbilt for a month & then sent home on 5 medicines two times a day, & was also placed on the heart transplant list because of it's damaged condition. At this point, it was just a miracle she was even alive! A year passed & despite what the doctors told us, she came off of the heart transplant list & off of all her medicines except for one. The doctors told us this was unexplainable & very unexpected...a true MIRACLE! I said with all of my might that it was GOD & He simply answered our prayers...HE HEALED HER!!!! We gave Him all of the praise & glory that He so richly deserved. By the age of 2, we noticed her sight was progressively getting alot worse and also that she was extremely light sensitive. We eventually found out she was very near and far sighted. She was diagnosed with Photodysphoria (extreme light sensitivity), Nystagmus, Cone Rod Dystrophy, hearing loss in both ears, a kidney reflux called Vesicoureteral Reflux, Gastro issues, & childhood Obesity. Being a very concerned & investigative Mother, I was concerned Brooklyn wasn't recieving the correct diagnosis. As Brooklyn started developing all of the above symptoms, I just had a 'gut' feeling that they all had to be related some way. So, I started researching online and found a rare genetic disorder called Alstrom Syndrome. I thought there was no way MY daughter could have this monster of a syndrome that held such a poor life expectancy. Alstrom Syndrome leads to blindness, deafness, heart, kidney, & liver failure, obesity, diabetes, & she would be unable to have children. And to top it all, there are only around 800 diagnosed cases of Alstrom Syndrome in the WORLD!!! At the age of 3, Brooklyn was, indeed, diagnosed with Alstrom Syndrome. Brooklyn is now 7 and sees about 20+ doctors. Without a doubt God put this precious little girl in our hands for a reason, and I vow to live every day He allows me to have doing all that I can for her!!!! Life IS good!!!


Contributed by MOM Cayla Atwell