Rose (Rosie) joined her brother Tommy who is 4 and her parents Jeff and Jen into the world in March of 2006. Throughout my pregnancy we had a lot of warning signs that something might be a little different, but we were not too sure. My APF test said that Rose’s chance of Downs was 1 in 34. We declined any form of amnio, because no matter what we were going to keep our little girl and did not want to take any chances with an amnio. At my first level 2 ultrasound, they found cysts on her brain, but these aren’t uncommon in any child. A month later, at the next ultrasound, they noticed that Rose’s renal pelvis was enlarged and her brain ventricles were on the above average side for their size. The following ultrasound showed that the renal pelvis was within normal range and the brain ventricles had remained the same size, which is good because we did not want them to grow. Our next visit showed that Rose’s size was a little on the small size so we went for monitoring every week with stress tests on the baby and all turned out just fine. At our last ultrasound, they said that the brain ventricles had gone down to the normal range for size and that her growth was okay, just a little small.

Rose was born via repeat C Section at 39 weeks. It took her a little time to start crying, but she did. A little later that day, while they were checking her and cleaning her up, she started to turn blue on them. For the first few days, she had a few blue episodes where she was put on oxygen to help her breath, and she was stimulated by the nurses to get her to breathe. She was also born with an extra finger and 2 sets of 2 fingers fused together. Both of her hips are very shallow, and can easily pop out of socket (hip dysplasia). Rose had two holes in her heart, a PDA and a PFO, both of which were minimal. Some of her facial features, all of which are mild include: wide spaced nipples, low set ears, small nose and a wide flat nose bridge. She also has lazy eyes. When she was born, due to the above mentioned, they sent a sample of her blood to be tested, along with ours.

After 9 days in the NICU unit at the hospital, we were able to take Rose home. The second day home, we had her put in a brace for her hips. After being home for only 2 ½ days of being home, Rose turned blue two times in 20 minutes during her feeding. We took her directly to the doctor and he though that the brace was pushing on one of the holes in her heart. So, he loosened her harness and sent us home. Well, she kept turning blue so we went straight to the ER, where we were transferred to another hospital that has a high level intensive care unit for babies. After 12 there and every test under the sun being run, it was determined that Rose has Central Apnea, where her brain does not always tell her to breath. She now takes caffeine every morning to keep her brain stimulated. She is back in her harness for her hips, and it is not working as well as it should but we are keeping our fingers crossed. She is also on a monitor 24/7 that monitors her heart rate (which is fine) and her breathing. If she stops breathing for 20 seconds it sets off the alarm. Since being on the caffeine, she sets off her alarm about 2 times per week, but she self corrects and does not require any help. Also, since they were not sure what was causing her to turn blue initially, they put her on an anti-seizure med as a precautionary measure.

Since she turned 3 months we were able to stop the seizure medicine, but she still needs her morning boost of caffeine. The PDA in her heart has closed and they are not too worried about the PFO, as long as it doesn’t cause any problems. She has physical therapy once per week because of hips and the muscles in her neck and arms were just a little tight. She has occupational therapy 2 times per month, just to keep an eye on her development. It is hard to tell much now because the first month of her life was in the hospital under different meds and she has just recently stopped taking her anti-seizure meds which made her quite groggy. She started smiling around 8 weeks, and seems to be on the verge of laughing. She has yet to reach with her arms or try to grab toys, but that should be hopefully happening any day now.

Rose had a rough start in life but seems to be doing quite well. We do not know what the road may have up ahead, but we are really blessed to have Rose with us.

We would love to hear from others and welcome any input that anyone has to offer.

Rosie is now 10 1/2 months old. She has had a rough past few months. In November, while I was holding Rose in the waiting room of the doctor's office for her flu shot, her eyes rolled back in her head and she turned blue. After a long day it was determined that she has complex seizures, a form of epilepsy. She was put on Trileptal to control them. Since then they seem to be mainly under control with exception of a few mini ones.

On January 22, 2007, Rose was in the hospital for a test called a pneumogram to see if her central and obstructive apnea were still present. While the test was being performed, the tube to measure the acid amounts was accidentally placed down Rose’s trachea instead of her esophagus. This resulted in Rose’s 24 hour test turning in to a longer stay in the hospital. Fortunately, while we were there they were able to run other tests on Rose and it was determined that she also has the following in addition to her other medical problems: Infantile spasms, severe G.E.R.D., and hypo-tonia. She also seems to have an excess amount of mucus in her stomach, which we are in the process of finding out why.

For her infantile spasms, she is on a 6 week treatment of steroids (ACTH). In 50 percent of the cases, after treatment is stopped, the spasms will return. The next step would be to do one more round of the treatment and cross our fingers and hope and pray that it works. In 90% of the cases, the two rounds of treatments, will put the seizures at bay. If the two rounds do not work, then we are not sure what will happen because you can not do in excess of the two rounds do to bad long term side effects from the steroids.

The good news is that after a week of being on the treatment, we have our old little girl back. Since the beginning of November, she has made virtually no progress physically or developmentally. Since the beginning of February Rose is back to cooing and babbling, reaching for toys, and has a lot of her spunk back. To offset some of the side effects of the steroids, she is on what we call "happy pills" (Clonapin) to take the edge off and make her feel better.

Feeding still seems to be a concern for now, so a specialist is coming out to see how we can help Rose. She is eating a little bit of baby cereal and stage 1 foods, however she only maybe gets about 30 - 40% of it to stay in her mouth and go down.

We are still proceeding down the road we like to call Rosie, with a few bumps and curves along the way.

In March, she will be going for an ABR, a hearing test to see if she needs hearing aids. They will also be performing a minor surgery to unclog her tear ducts in her eyes.

November 2007 brought Rose another surgery on her eyes to try and put tubes in them to help with them drain properly. This was done at the same time as her second hand surgery, which was a success because we got to keep all five fingers. Things are looking really good. We just had an appointment with her hand surgeon this week and he wants to postpone surgery to straighten them (dude, she has one gnarly hook of a finger) for two years. In the meantime, she will wear a splint when she sleeps to slowly try and straighten it. Also, November brought on an UTI w, seizures. Not one of our better days. I got home to take her to the doctor in the afternoon because we thought she was starting to come down with something earlier that morning. She was going downhill quickly. She was lethargic, her coloring was off, her eyes were rolling around in her head basically she looked like crap. We went straight to the doctor who told us it was a bad ear infection until she got to see Rosie's eyes rolling and the color change. Needless to say we got an escort straight down to the ER and then got admitted. Rose had an off the chart urinary tract infection which was in a sense bringing on seizures.

December (I think) scored Rose some ear tubes. This was great because her hearing showed a difference almost immediately.

Jan - Pneumonia. Well, so much for crossing Rose's pulmenologist specialist off of her list. We now own our very own nebulizer from this stay in the hospital.

March - Who needs Disney World when you can spend your spring break at the Cleveland Clinic's Epilepsy Center? Actually this was a great trip. All of Rose's odd behaviors, head tilts, eye twitches and staring spells are not seizure related. Her 2+ day EEG was clear of any seizure activity. Heck my little lady is just quirky in those ways. They did a PET Scan and it turned out quite well. The MRI showed some abnormalities on her brain which could be do to her chromosomal abnormalities (partial trisomy 10q translocated on 16p). We are still awaiting an appointment with her pediatric neurologist to go over the tests to see if they want to do a MRA on her brain. She is having snot pooling in her belly constantly and having a hard time keeping down food for the past couple of weeks. We spent a couple of more days this past weekend at CDH again due to the start of pneumonia and her problems with her belly.

Rose had a stomach study done. The results were normal, which is good in the sense that her belly is working. However, we will have to have more tests done to find out why her belly is filling with mucus. Our Gastro-dude pulled a few strings for us and got us into some specialists that work with children with chromosomal issues. So, we can add another doctor to our list, but they are supposed to be "top notch". Rose had her follow up appointment with her hip doctor to check on her double hip dysplacia and to see if they were starting to calcify. There is a tiny pea sized mark in each hip socket which shows the start of calcification. This is good because as long as it continues, we should not need hip replacement surgeries in the future. (YEAH)

Rose is now 2 and babbles, pulls to stand. She is about a year behind on all skills in general. She is finally learning how to eat. Instead of just pushing all of the food out of her mouth, she has learned how to chew and swallow. She has such a great personality and is almost always happy and we are so blessed to have her.

In November, Rosie went in to have eye surgery to both tighten and loosen some of her eye muscles. They also tried to insert tubes into her tear ducts. The muscle part went well however, when it came time to do the tear ducts, they could not find out where her tear ducts ended. So, needless to say, they were unable to insert the tubes in her tear ducts to help them remain unclogged. She had a very rough recovery, but since the surgery, she has been able to see things so much better. She is relearning how to look at things straight on and down. The only downfall seems to be that since she has had the surgery, she is pulling her hair out when she goes down to sleep. We are not sure if it has to do anything with her getting so much sensory stimulation now that she can see better and that is her way of soothing herself to sleep or if it is just coincidental it the timing of the eye surgery. In December, we ordered Rosie's wheelchair, walker and activity chair. With her AFO's Rose has taken up to 16 steps. She is very unsteady, but it looks like she will be able to walk independently around the house without the walker within the next year. Rose is still very small, 20 pounds and 30 inches and she will be 3 in March.

Feeding sill continues to be a little bit of a challenge. She is on formula/nutrition drinks and Stage 2 & 3 baby food. She continues to keep most foods that are solid pocketed in her checks when she eats. She does love something called Smart Puffs, which are a little bit healthier than your regular cheese puffs/cheetoes. She does do great eating these. We also found out that some of her immunizations did not work. For now we are going to watch and see what happens and meet up again with her immunologist. She is allergic to mold and peanuts, so we get to carry around an Epi Pen, just in case.

We also just got a Board Maker, which is a communication device. Her receptive language is a lot stronger than her verbal abilities. She does do a little bit of babbling.

In a couple of months, when Rose turns 3, she will start going to school. This is where she will receive most of her therapies. In Illinois, when a child turns 3, they no longer receive therapies from Early Intervention, they are part of the school system, so that is where they go to get their services.

She fought her first major cold and was able to stay out of the hospital this time with the help of her nebulizer treatments at home. We are all well, unfortunately her Daddy lost his job in the crummy economy. So, keep your fingers crossed for us. Best wishes to all.

Rose is 4 ½ years old now and about the size of a 2 year old. She is still very small for her age overall. She is now in 2T clothes.She has had a busy past year and a half, so I will see what I can remember to update everyone on. Rose learned to walk when she was 3 years old. She still is a wee bit unstable and doesn’t watch where she is going. She is working with a vision therapist to train her eyes to look down and out ,not just to use her peripheral vision. Her hips have calcified and she no longer has double hip dysplacia. She does wear orthotics to help support her ankle/leg muscles.

She had another sedated ABR this past spring and it revealed hearing loss in both ears so she now has hearing aids. In addition, her eyesight got a little worse, so she now has glasses for her farsightedness. Her left eye still has a tendency to turn in, so we might be looking at another surgery to correct this.

One of her biggest challenges is still eating. We still give her a bottle with her meds 3 times a day and she is on supplements, formula and pediatric drinks. She does eat food that dissolves easily and baby food. She has a hard time chewing because of her teeth alignment, weak muscles and poor coordination. She also unknowingly pockets any foods that don’t dissolve and she continues to have GERD.

She (knock on wood) has been in good health overall the past year and a half. If she does get sick, it does take her body a little longer to get over it, but it doesn’t require hospitalizations as it did so often in the past. Her Pulmonologist is very happy with how well she is fighting off her colds and different bugs. Her seizures are being controlled by meds and we are even reducing the dose to see how she does. We found out that she is allergic to tree nuts and molds. Hopefully this winter or spring Rose will have another surgery to fix her crooked finger from where they previously removed her extra finger. She still has a VSD in her heart but it is just being monitored. Also, Rose still has a little bit higher of a pain threshold.

Rose has a vocabulary of about 4 words and 10 signs. We are still using boardmaker with her and another program called PODD which is a picture communication device. She can get her point across using her limited signs and vocabulary just fine. Her receptive language is a lot stronger than her expressive.

She is in a preschool classroom for special needs kids and she loves it. There she receives physical, occupational, speech, vision, and hearing therapies and has a one on one aide to help her in the classroom. While Rose continues to have obstacles and developmental delays, she tackles them all with a smile.

Rose is still an incredibly happy child and her big brother Tommy is the light of her life.