PPT13 Pd9
(Partial Trisomy 13 Partial Deletion of 9)
A brief history of Eleora
While I was pregnant with Eleora I had Gestational Diabetes a was Insulin dependant and had something called Pseudotumor cerebri basically that is fluid on my brain and had to have spinal taps to drain it out.
When I had my non stress tests I noticed there was a very large difference in her heart rate and I guess part of it is I felt like something was wrong but the doctors told me I didn't know what I was talking about.
She was breach so on Aug. 27 2002 we went into Duke University Hospital to have her turned. Since she would not turn we went in for a c-section. My medication gave out on me in the middle of the c-section and they pumped me full of IV drugs. Immediately they realized her breathing was off so they rushed her into the NICU, and I was brought to a recovery room where I slept it off. My husband, my dad, and my dad's wife went out to grab some dinner real quick and that is when a doctor came into my room turned on the light and said "where is your entourage" I said they were getting dinner and he said "well, there is something wrong with your babies heart" then started spitting out a lot of medical jargon and left. still groggy from the drugs I called Sean on his cell and told them they needed to come back right away. This is where it all began.
When the doctors did a routine x-ray of Eleora's lungs they noticed her heart looked funny and ran some more tests. There were a couple of minor things including a Paten ductus but the big deal was there was nothing separating the left and right ventricles. She only spent the night on oxygen and spent a week in the hospital. Most of the problem was trying to get her to eat she just didn't want to.
When we got her home she was so tiny under 5 lbs. she was born at 5lb 9 oz. We were told the signs of congestive heart failure in an infant and told to watch for it, of course we were terrified we would miss it and spent every night sleeping with 1 hand on her chest if we slept at all. By the time she was 5 weeks old she was on 13 doses of different medications a day.
Let me back up a little bit the day after we got her home she had to be rushed by ambulance to the hospital because she had spit up and stopped breathing at that time the doctors told us she had reflux and put her on medication for it. We were sent home the next day. Not long after that we were admitted to the hospital for dehydration because her formula was giving her diarrhea and she had a UTI. About a week after that I went to the pediatricians office telling them she was breathing funny they needed to look at her the took her blood oxygen on the Pulse ox and they could find nothing wrong just said she had a virus and sent me home. When I got home I felt it was worse and I took her back they came out in the waiting room and put her on the pulse ox again and watched as her oxygen levels plummeted then they rushed us back into a room and put her on oxygen, so we ended up in the hospital again.
After the last episode we had a swallow study done and found that Eleora was aspirating on thin liquids and started to thicken everything she ate.
Then when she was 6 weeks old she was in complete heart failure and no medications were helping so it was back to Duke to have open heart surgery. She was not even 6 lbs. at this point and we were terrified. I kept a log of her heart surgery it is on her VSD page.
While I was in the hospital with her after her heart surgery we found out about her genetic diagnosis. The doctors seemed to want to ell us that they knew exactly what it meant and give us as bad of news as they could. Finally after 3 very long meetings they admitted they didn't know.
A surgery that should have been a 4 day stay ended up being almost 4 weeks the major problem being we could not get Eleora off the ventilator later we found out it was because she has a floppy air way. We also had issues with seizures which we later found out were a side effect of the heart and lung machine. She also had an infection in her intestines and was not allowed to eat for 16 days.
Finally we got out of the hospital but the reflux continued to be an issue during one stay in the hospital a lung doctor saw Eleora and had a stomach emptying test done at that time we were told her gastric emptying was within normal limits. For the next 6 months we still dealt with bad episodes where she would spit up stop breathing and turn blue some of these episodes ended in ambulance rides to the emergency room. Finally our pediatrician set us up with a gastroenterologist who was willing to try raglan and it worked amazingly enough even though she was within normal limits she still had slow gastric emptying ( i have no idea how that works). The Gastroenterologist put Eleora on a low dose of Erythromycin instead the raglan and it has worked 10 times better with no issues at all and no side effects.
When Eleora was born we were told she had hearing impairment. 75 db in one ear and 60 db in the other but it was mostly conductive and after bone surgery she would be brought down to 25 db in both ears as far as they could tell, but they will not do that surgery until she is 6. Originally it was my understanding that as she grew her hearing might get a little better on its own. After the first few months the Audiologists didn't want to test her hearing any more saying it won't get any better and there was no reason to. We have noticed she hears a lot more without her hearing aids and tends to tense up with them on. Then we started going to another audiologist who did a test without her hearing aids in and got a 40db loss. Now that audiologist doesn't want to really run any more tests and wait and we are doing a 3 month trial without aids at all. I think it is going well but I am not sure it is so hard to tell. My biggest concern is when they do the ABR( test while they are asleep) her neuro responses are not normal and causing it to come out abnormal rather than her actually not being able to hear one of the audiologists said it is possible but not probable they usually find that with elderly patients. so this is on going.
She was also born with poor vision and when she was 1 started wearing glosses. At 2 1/2 the Ophthalmologist noticed her eye muscles were too tight and pulling her eyes so she had surgery to loosen the muscles it has been great.
When Eleora was 2 the ENT noticed Eleora's tonsils and adenoids needed to be removed because of apnea.
We recently found the miracle that is known as carnitine. I started her on it in June of 2004 and all her Therapists speech, OT, & PT say that they see an improvement in her attentiveness and muscles every time they see her. Below is a web page with a little info. This an amino acid normally created in the body but some special needs kids can be low and a supplement can help them When Eleora was tested the doctors said she wasn't low but after dealing with her slow gastric emptying I decided to find out more the dr. said it would not hurt to give it to her. Since it is helping our Nephrologists is sending us to see a genetic neurologist. That will be Aug. 25th. I will le you know how it goes
http://www.toxicfreeliving.com/carnitine.html
When Eleora was born she was also diagnosed with kidney reflux we are still being tested every year to see if it has gone away that test in July 18thso cross your fingers.
At this point Eleora is a pretty healthy little girl or only concerns are constipation, and when she gets a cold she almost always get the croup. At age 3 she is pretty much sitting up when propped as long as she keeps her hands down to help her. She puts some weight on her leg's and we think she has said a few words but it could just be wishful thinking.
Omega-3&6 http://www.1stvitality.com/az/fatty_acids/efa_health_benefits.htm
8/10/05 Eleora sat up on her own for the very first time. We are so excited and put a video on our main page. We also have figured out the when things click with her her eye brows raise up in the air.
Trisomy 13 Web sites:
http://www.livingwithtrisomy13.org/album28.htm
http://groups.msn.com/Trisomy13Support/shoebox.msnw
