Sunday, September 21, 2008


Just a quick blip about my boy. He's going to be 3 soon! It all goes by so fast. Today I had one of those moments were you stop and realize this. Drake has severe asthma. The attacks are triggered by colds. He can't go to daycare but daddy teaches at one so we are always getting sick. Drake has episodes about once a month that require visits to the ED. This is despite being on 2 control meds. etc. Anyway, he is sick this week. He hasn't had a good nights sleep all week. Last night was the longest. We were at the ED at 7am. Drake is soo smart,loving,brave,etc. Being Ava's big brother and having his own issues, he is used to being in hospitals at this point. Drake knows the drill; he steps up on the scale, pulls his shirt up so the doctor can listen to his lungs, gives his finger for the o2 stat(92 not to bad for him), asks the doctor if he's going to check his ears,and holds his own neb. Wow what a big boy, right? Then the doctor leaves the room. Drake says "mommy, I'm a doctor,too." Then we talked about how he could help other boys and girls like him and his sister. Amazing my 3 knows what he wants to be. Fingers crossed. Maybe we have a little future cytogenetist.

Sunday, September 14, 2008

It was so great getting together

I had to get these pictures up for family to see all the great kids we met. We look forward to the next chance to meet more amazing families.

Current Issues

Ava has many characteristic secondary things -1p36 kids have EXCEPT cardiac issues that was the best doctors appointment of all!

  • moderate-severe loss in right ear mild loss in left ear
  • cortical vision impairment- eyes developed normal but the brain is interfering with visual process
  • very low tone
  • uncontrolled infantile spasms
  • controlled epilepsy
  • small ears
  • wide nasal bridge
  • straight eyebrows
  • feeding difficulties
  • poor motor developement
  • constipation

Intro continued

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 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.

Intro to our little miss pretty Ava Marie

Well, I have to say we have been quite inspired by the amazing families we met this weekend in Boston. Ava was the youngest this year. It was very reassuring to see the other kids playing and being so expressive. I really haven't known what to expect. I'll start with some history on our miss pretty, Ava.

I remember the first time I felt my heart sink very well. I was spending time with my 18 month old, Drake, while daddy was at school. The phone rings it's my prenatal Doctor. I look at the clock and its 5:15, "why would he be calling after hours." He asks how my back has been, fine i tell him, but there is no way that's why he's calling. He goes on to say we need some additional ultrasounds there is concern about extra fluid in the brain. I didn't here much after that. I hang up thinking, WOW what the hell does that mean. This was the first of many of these calls.

Other moments I'll always remember like driving to the "big" hospital. Everything felt so surreal like I knew the rest of my life from that moment on was going to be different. Then there was signing the waiver for the fetal MRI, the paper explained how this was an uncommon procedure and they weren't really sure the risk so please sign here so we're not responsible. Also, being told repeatedly everything will be fine but feeling like they really didn't know that.

Finally, Ava arrives on her due date Nov.1 2007. She is beautiful but were did she get those ears. A few hours later the doctor comes to check her out. She takes her from ggma, lays her on the bed, and unwraps a baby that is blue from the neck down. She tries not to look afraid/worried as she quickly wraps her up, explains she needs to take her down the hall, and someone will come get me soon. I'm in shock I think for the next five days. I don't have time for emotion or pain. I just want my little girl to be okay. I just want to go home. They chalk it up to fluid getting in her lungs at delivery. After a bout of jaundice and some light therapy we were are discharged.