Intro continued

BABY GIRL WILSON GOING HOME

So there are feeding difficulties in the beginning like taking 1 hour to eat 2 oz, being very uncoordinated, and unable to latch properly. We found Nuk nipples to be a life saver. At 7 weeks, Ava started having seizures. I would not say that word until she was diagnosed, because I had never seen anyone have a seizure and babies have lots of jerky movements, right? I actually video taped them on my cell phone (which I can't figure out how to upload). I was so afraid the doctor wouldn't believe me. He would just see me as an over concerned mom or something. Well the video was enough to get him to take me seriously.

We are at our little town hospital (which I was working at as a nutrition assistant). I'm wondering what they're going to do for this poor baby girl and will she do it again for someone else to see. The Doctor is on the phone with Dartmouth. My inlaws arrive as the doctor comes in to tell me we will need to be transferred to Dartmouth Medical Center 2 hrs away by ambulance. He leaves saying he needs to finish making the arrangements. My mother inlaw is a tad emotional(love you) so she has been crying quite a few times since Ava was born, but this is a First for me. I felt so helpless all of a sudden. The doctors were wrong everything was not going to be fine like they said. (Everything is fine just not "normal", the way they meant it).

We are at Dartmouth,after a long nausiating ride, being told we are so fortunate to be getting the genius neurologist Dr.Filiano and a 24 hr video EEG. I'm in a daze realizing this means I will miss my sons 2nd birthday (Dec. 22 2005) while in the hospital with my 2 month old little girl. She was diagnosed with epilepsy on his birthday and we were sent home with a whole new set of directions for caring for our infant. The genius Doctor did a full work up on Ava including a microarray analysis (chromosome test).

Phone rings, it's Dr. Hubbard. He has been my dr. my whole life. He now cares for my son and has been great caring for his sever asthma. He says he is on vacation but had to call to let me know some test results came back. This can't be good. He goes on to say genetic testing came back with abnormalities, we need to do more testing on the parents to say anything conclusive. Time stops I just want to know everything now. I have to just wait and see? That was the start of some long days waiting for answers.

I got a copy of the report from Signature. I figured it was worth a try googling the numbers 1p36.22-1p36.33. Lots of technical stuff came up then there was raisingadisabledchild.com. Amazing a family out there blogging about their kid with this. Wow, this little girl is so cute. Could this be what Ava has? (Thank you guys so much for what you are doing for the new families, a glimpse of hope in a scary time.) I tell the doctor I think it's this he agrees without saying so before the results are back.

Ava's seizures are under control when we get the -1p36 diagnosis. By 3 months things seem okay, we are working hard on avas feeding issues and head control. We are told of the many appt. we'll have to have, all the specialists, and early intervention. Ava starts giggling and making eye contact. Then we start to have more repetitive movements different then before they are in clusters instead of continuous. Another EEG, shows the different pattern and she is diagnosed with Infantile Spasms. The local doctor that broke this news was not very sensitive to say the least. Leaving there was another empty/helpless emotional moment. The first drug did not work, so we headed down to Dartmouth again for a stay to establish ACTH therapy. Let me tell you I have a needle phobia. I was told to give my daughter an intermuscular shot once a day of this $23,000 medication. Okay from then on out I feel like I'm just doing what I'm told. We did this for 8 weeks. We lost her sweet giggles, smile, and some eye contact. The spasms have gotten better but we struggle with them daily at least twice a day in series of 20-30. Still working out the meds.

Many specialists followed each with there own diagnosis.