Date: Sat, 23 Mar 2002
From: joanwaddell@bellsouth.net
Hello, My name is Joan Waddell and this is my family.
My son is 2 1/2 yrs old and has PKS. I would like to submit his story for the site. Sorry it is lengthy but you never know which details will ring a bell with another parent. The following is his story....My first ultrasound showed "soft signs" of problems, possibly Down's syndrome.
I was 37 at the time so it seemed likely.
There is a measurement of the nuchal fold (skin on the back of the neck) that was abnormal, and his ventricals were slightly large and his upper arm and leg bones were slightly small. We were sent to a high risk doctor as well and I did two more ultrasounds to check out the findings and to see if Ben's heart was healthy but I would not let them do an amniocenticis.Ben was born at 32 weeks by c-section (Oct. 2, 1999). My water broke out of the blue. My first child is a 5 year old little girl and they had to induce her 10 days past due date to get her out so I was not expecting Ben to be early. They kept me in the hospital and gave me the lung shots (surfactin?) and kept Ben in for 72 hours (long enough for the shots to be effective). They wanted me to stay on my back for two weeks before delivering but they could not stop the contractions so they let him come on out after 72 hours. He cried and was breathing somewhat when he came out - he was 5 lbs 7 oz which I felt was good for 32 weeks. He would not turn pink so they intubated him in the OR. (Ben has an extremely curvy airway and they were almost unable to intubate).
He went straight to the NICU and stayed on the ventilator for at least 24 hours then he went to c-pap. The geneticist came in an immediately started looking for the disorder cause Ben had several visible anomalies. Low back turned ears, wide set eyes, large cleft palate, extra digits on each hand (no bone in them but a little flabby finger on each pinky), he had this bizarre hair pattern (a tuft on the top of his head then a bald ring around that, then another ring of hair, then another bald ring - he looked like a monk). There were so many other things I can't remember them all. He was short (but all the Waddell's are). The geneticist sent of a blood cell chromosomal test right away but it came back perfectly normal. - So everyone was baffled.Ben was having very odd breathing problems - he had to be positioned on his stomach to be able to keep his SAT's up. All the low muscle tone made the neonatologist think that if he could just have some more time to grow that maybe he would get strong enough to handle his own respirations. So we planned to keep him in the NICU for 2 months to give him a chance. At 3 weeks of age he got RSV (for the first time) and he almost died. They called us in expecting him to be gone by the time we arrived and I live 30 seconds from the hospital. But he came out of it after being resuscitated for about 45 min. They said his SAT's were extremely low (one nurse stated they reached 0-10). His lungs had spasmed and would not move. Once they got him back they put him on a ventilator and paralyzed him for a week because if he spasmed again he would not make it. Miraculously he did not spasm again. (He coded 9 times during his NICU stay. He is such a little fighter). He stayed on the ventilator for the remainder of his stay in the NICU until his trach was put in. They would try to extubate every couple of weeks to see if he could breathe and he would pull and pull to get in enough air but his SAT would drop right down. At one point they also found a cyst/polyp on his uvula. It was kinda attached with a string and would sometimes block the airway and sometimes flop back behind the uvula so it had never been seen. They thought that it would solve the problem so we had it removed - it did not solve anything. Ben was trached at around 8 weeks. He had his g-tube placed the same surgery. Ben could eat a little with a haberman feeder (special for cleft palate babies) but not enough to sustain life. It took about 3 weeks after that to get everything arranged for him to make the transition to home. We came home with a SAT monitor, an apnea monitor, compressors, condensors, heated humidity. and of course, suction.
We were good at home for about a month. Ben came home Jan. 3, 2000.
Our first trip back to the PICU was Feb. 23,2000. That trip was pneumonia. We just got home and settle from that event when we went back on March 18, 2000 that time for another bout of RSV (and they say you can't get it twice in the same year!) This is when we got hooked up with the pulmonologist. She diagnosed Ben with reactive airway disease, bronchopulmonary displasia.We got over that RSV and then came home again only to find the hydrocephalus in April. Ben's soft spot was swelling so we did an rather rushed shunt placement on April 7th, 2000. We then got to focus on trying to care for Ben at home for a while. The geneticist had taken Ben's case before his group of genetic peers and they discussed and threw out suggestions one of which was to have Ben get a skin biopsy and have it tested. On July 7th, 2000, at 9mo., we found out that Ben had tetrasomy 12p. We were then given all the documentation the geneticist could find, which was not much. At that point we did some grieving due to this bleak outlook.
Ben did much better in the warmer months and we really had not major illness events - at least none that ended up in the hospital.
He was pretty stable throughout the winter and we had his cleft palate closed April 12, 2001 (18 mo).
Ben got pneumonia the summer of 2001 but he did not have to go to the hospital.We had an MRI done in June 2001. He had had one in the NICU but it was hard to read and I just wanted another to clarify some things. It showed some pretty bad stuff. Ben has severely decreased white matter in his brain. He has a severely malformed corpus calloseum. He also has lots of brain atophy. They think that once the shunt was placed and relieved the pressure the brain sorta shrunk. To look at it now you see large amounts of fluid in the front and top areas. The doctors are surprised that Ben does not yet have seizures. We have done 3 EEG's and one 24 hour EEG but no seizure activity was recorded.
Ben has a really great ENT. He does a routine bronchoscopy about every 3 to 6 months to check the changes in Ben's airway. In August 2001 he felt that Ben could have airway reconstruction surgery and have the trach removed. We were so excited that we jumped right on it and had it scheduled asap. Ben had just gotten to the point where he did not need oxygen during the daytime hours. It was such a wonderful thing. We could take him places without lugging all the O2 stuff around. Then we did this surgery.
The actual surgery date was Nov. 2nd, 2001. The reconstruction site was perfect. Ben was extubated a week after surgery and he still was having some intermittent breathing problems. They kept him about a week extra and decided the swelling was down enough that he could go home. (I was actually afraid of him without the trach). So we took Ben home without a trach.
The days were mostly ok but Ben had increasing trouble at night. He kept desat'ing really bad. After 10 days he got so bad that we had to take him back - I actually thought his lungs were sick again so I took him to the pulmonologist. He had the intermittent obstruction in her office and he could not move any air, she called an ambulance and had him rushed back to the PICU. He had to be retrach. The bad part was that Ben had a central line (no IV sites left on the poor boy) and it had given him a blood/staff infection. His fever was real high. They needed to keep him to give him IV antibiotics.
Two days later he developed RSV again. Over the next 3 days he declined so fast that we were getting the "get prepared for him not to make it" speeches from the ICU docs. Then miraculously one morning he made a complete turn around. He ended up being in the hospital on a ventilator 3 weeks. They took him off one day and we left the next morning. In total he was in the PICU 47 days (17 the first time, then home 10 days, and then back for 30 more days. Loved that hospital bill!!!!) We missed Christmas at home again, he got home on Dec 28th. So we ended up with a trach again and worse yet we were back on an oxygen requirement!!!Ben has really been making some wonderful progress since about his 2yr birthday. He has 4 hours of therapy a week (OT, PT, Early Intervention) and he is just about to sit up on his own. He has gained a lot of head control. He wants so badly to be up. He tries to pull himself up but he just can't quite get there.
We recently switched to a new neurologist who put Ben on Biotin. It is just a form of vitamin B (I think). It has done phenomenal things for Ben. It really seems to help him make those connections better so he can get his hands to do what his brain is telling them to do.Ben is also a complete joy and a most precious part of our lives.
He has an amazing smile that just makes me want to squeeze him until I can't stop. Everyone who meets him loves him and is just sucked in to his charm. The PICU nurses, his therapists, just people we meet in the stores. He is infectious with that chubby cheeked grin.
Ben can hold some toys and has actually grabbed some on his own. He loves to kick and scoot (little) around on his back when lying on the floor. Ben also appears to want to communication with his mouth. The docs think we are psycho but my husband, Bennie, swears that Ben has a different mouth pop for himself and another for me.
Ben is really into blowing bubbles also. Ben smiles a lot now. It is not always in direct response to us smiling at him - he always respond if we tickle him! He is so ticklish. Ben has also reached for me once or twice. My heart has never done such cartwheels as when he reaches for me or smiles when he sees me.Our biggest issue with Ben is feeding. Right now he is on a feeding pump taking Pediasure with fiber. He can only tolerate a rate of about 80cc per hour and he takes 26 oz/day. He has a lot of difficulty with motility (moving food through his stomach). Sometimes it gets so bad he will have 2 oz or more of residual come back after a feeding. He is suspected to have reflux although he does not seem to aspirate very much. Once we gave him a finger full of icing off a cake and it was red. He shot red straight out his trach but he never got a pneumonia from it. Ben was eating some baby food from a spoon but we have had trouble getting that started again since being back from the hospital this last time.
Ben is currently weighing 21 lbs 12 oz. He sort of plateaued just under 20 pounds and it seemed like it took 6 months to get him over that 20 lb hump. He got sick and got dehydrated and lost about 2 lbs and then he just was slow to gain the weight back. It is so frustrating just trying to get enough food in him each day. If he could just eat then we could really get on with life. We have to handle him a little more gently when he is eating because of reflux and he is eating all the time.
I truly believe that God knows what we can and can't handle and He has been with us all the while. Ben has a way of smiling while looking away and we say he is talking to his angels cause we are sure he is surrounded constantly!
I would love to converse with anyone regarding PKS.
Please contact us at mailto: joanwaddell@bellsouth.net
