I'll never forget the first time I saw Livia. She was delievered by C-section due to a breach position and as the doctor dropped the drape, I looked up and there she was. Dark hair, pursed red lips, hands and feet curled to her body. It was as if time stood still while I was looking at her, even though it really only lasted a second or two. Life was so great. We had a 6 pound 4 ounce perfect little girl.
Livia was a very easy baby but she never wanted to be put down to sleep. When I had to go back to work, I was fortunate to have my sister and grandma watch Liv. They both had equal difficulty in getting her to sleep, but I always blamed it on the fact that she was breastfed and she always would fall asleep in my arms.
Honestly, I didn't mind. I tell people now that I think I held her for the first 18 months of her life (thats how long I breastfed her). As Livia got older, things seemed to be going just fine. She ate anything and everything (and still does) She hit her milestones when she was supposed to (rolling over, sitting, crawling, etc)
The first milestone she missed was walking. She didn't successfully walk on her own until she was 18 months old. But it wasn't too big of a deal, because she finally picked up on it. But then we noticed she was having little "episodes" (as we refered to them) that would usually occur when she was coloring at her Tinkerbell Table. She would set on the very edge of her chair until she is almost falling off, cock her head to the side, hold her breath, and let it out with a sigh, then pulse her legs. We thought she was having seizures so we took her to see a Pediatric Neurologist who suggested doing an MRI. That came back and showed nothing.
He then suggested a 24 hour EEG that would be performed in our home, but again: Nothing. In the mean time we had started her with speech therapy because she wasn't really talking like the other kids her age. This therapy went on for a while but we weren't really seeing any results. Since our therapist specialized in development, and not speech, we decided to take a break from the therapy and go on with our daily lives.
At one of her routine check-ups, it was suggested that we have her seen by an ENT Doctor and have her hearing checked. That made sense to us: If she isnt' hearing correctly, then how can she form words correctly? This seemed like it was going to finally be the answer to all of the "why's" that had plagued us thus far. The ENT doctor determined that she would benefit from her Adenoids being removed and tubes put in her ears.
During the surgery, they were going to perform an ABR. This is the most accurate way to test the hearing center in the brain stem, but unfortunately Livia came out of anesthesia too quickly to get an accurate reading. After her surgery, the doctor came out to talk with us and recommended we talk with a Geneticist because of a few things he noticed with Livia. I didn't really think much about it at that time.
We had started speech therapy again, but with someone new. After a few weeks went by, the new therapist mentioned to me that they had ac hild in their facility with similar characterists as Livia and that we may want to consider seeing a geneticist. (WAIT! Didn't the doctor say the same thing to us????) So by this point im starting to think that maybe we should see someone.
So i decided to make a call to Dr. Hoganson's office (A geneticist in Rockford, IL) We met with him and a Genetic Counselor - Christi Munn. I went through our story with them,t hen he did a once over and Livia and aske dto run a urine test. We got the results of the test while we were home for a two week visit...our Livia tested positive for MPS.
Of course, the first thing I did was run to the internet and read all about it. All I could see was that it was terminal: NO cure. NO treatment. I screamed! We loaded up the family and drove back to Rockford that day so that we could see the doctor. We met with them again the next day and they explained that they would have to do a blood test to determine what type of MPS it was. They were pretty sure it was Sanfilippo, but couldn't be positive without the blood test.
Now we were playing the waiting game. During this time we did speak to the MPS Society. They suggested that we not read anything until we knew exactly what we were dealing with. This was good advice as if offered somewhat of a peaceful setting. Then the time came to get back the results, and sure enough, it was Sanfillipo Syndrome.
On a side note, we also had an 8 week old baby at this time. I didn't know where to go or what to do. I'd never felt so out of control in my entire life. Every time I looked at my beautiful little girl, all I could think or do was I was going to have to bury my child. How are we supposed to go on? So of course we had our newest child, Finley, tested right away.She would have a 25% chance to carry the disease.
The waiting game was on once again, but I had such a strong feeling that the test results would come back negative. I just knew that she was born for a big reason. I felt like she was going to help us get through all of this. Finley was a miracle. Her test results finally came back: She would be a carrier, but she did not share the same genetic disease as her sister.