Lifting up Lainey
DONATE TO THE AAV PROJECT
Lainey May Matuska was born perfectly healthy on August 19th, 2018. 40 hours after she was born Lainey and her parents Stacie and Rob began a journey that they never saw coming.
The day after Lainey's birth she appeared to have seizures from what they thought was an infection. She underwent 14 days of antibiotics to treat the infection and in the meantime, every test under the sun was done to identify what was going on. Everything continued to come back normal. So Lainey was discharged from the hospital 16 long days after she was born and the family settled into home, happy to be back to normal life with their two year old son, Calvin and ready to enjoy some down time on Stacie and Rob's maternity/paternity leave.
In the days following their return home, Lainey began to exhibit abnormal eye and body movements and so once they found a neurologist who listened and heard their concerns, they started down on a path of testing to try to get to the bottom of what was going on. That has included: 3 MRIs, 1 MIBG scan, 2 CT scans, 3 EEGs, metabolic testing, screening for neuroblastoma, etc, etc, the list goes on and on. During Stacie's 16 weeks of maternity leave she never went a week without a doctors appointment for Lainey and certain weeks would have up to 4 appointments - it was exhausting, but also shows the absolute determination Stacie had to fight for her daughter and figure out what was going on. At the end of it all, every test STILL came back normal.
Then, in December, Lainey had a seizure at home and another seizure at Children's Hospital.
The only other testing they had left was to do was genetic testing to see if there was an underlying genetic condition. Their worst fears were realized on January 30th when they got the call from the clinic that Lainey indeed had a genetic mutation.
Lainey has a mutation in the ATP1a3 gene and subsequently has been diagnosed with a devastating neurological disease called Alternating Hemiplegia of Childhood (AHC). The disease constitutes bouts of paralysis, sometimes alternating from one side of the body to the other, sometimes affecting the whole body, in addition to cognitive and physical impairment. Additionally, about 50% of children with this disease have epilepsy which is the case for Lainey. This disease is literally 1 in a million..
The hardest part of this disease is that it is so variable from person to person. There is a huge spectrum in how it manifests and because of that, they have no idea of what to expect for the future. AHC is like having a combination of 7 illnesses:
1. Paralysis like Stroke
2. Seizures and spells of reduced consciousness like Epilepsy (true epilepsy in >50% of cases)
(high risk of SUDEP or rapid severe permanent deterioration)
3. Low muscle tone like Cerebral Palsy(and complications like the inability to breathe and swallow properly)
4. Movement problems like Parkinson’s
5. Behavioral issues like ADHD
6. Learning challenges like Autism
7. Neurodegeneration like Alzheimer’s
There are only about 1,000 people in the WORLD with this diagnosis and only 300 documented cases in the U.S. There is NO treatment and there is NO cure currently for AHC...but there is hope and YOU can help! Help is needed NOW!
They are currently in the midst of looking into gene therapy as a potential cure for this disease (called the AAV Project). The AAV project needs $200,000 in funding by April 1st in order to continue this current phase of research in efforts to develop a cure for AHC. If you are able to make a monetary donation to this very important research on AHC please CLICK HERE and your donation will go directly to the AAV project. No amount is too small and keeping this research going is critical in helping these precious children struggling with this horrible disease.
You can also help the Matuska family by making a donation through this site to help fund Lainey's life long care. Given the day to day uncertainty of the disease the family is unsure if both parents can continue to work in the future.
Funding for the family will go to help with medical bills, medical equipment, travel expenses for doctors appointments, additional care for Lainey in the home and beyond.
At the end of the day the key to curing this disease aside from the extremely important funding is raising awareness so that treatment and a cure can be found. The Matuska family and our entire extended family thank you in advance for your prayers, positive thoughts, and support in this fight against AHC and Lifting Up Lainey .