"...a true Valentines Day gift from God"
John Dylan Cully's Web Site
<body bgcolor="#0000C0"><font color="#ffffff"> <h3>History-- birth to February 11, 2006</h3> After a normal pregnancy and uneventful delivery, John Dylan Cully was born on February 14, 2002...a true Valentines Day present from God. He was my third child and he was beautiful....10 fingers and 10 toes. He weighed 7lb 6 oz, and was 21 inches long. His apgars were normal, and he appeared alert and content. He was however very floppy, both of his eyes were blood-shot and his feet were folded up onto his shins. He would not grab onto your finger if you placed it into your palm. We asked 3 Doctors if he was normal...and they all assured me that he was fine and that newborns were just like that.<P> During the nest few weeks I noticed that he did not cry. He had no control over his head, and would only turn his head in one direction. He still would not grab onto your hand, and could only track an object in one direction. He had a week suck, but was able to breastfeed due to an excellent let-down reflex on my part. He also slept a lot more than my other two children. He was super smiley and just happy no matter what we did.<P> At his 8 week check up I knew that something was wrong. I showed the Dr. his head lag, the inability to pick him up under his arms, and his lack of grasping reflexes. She was also concerned and labeled him with hypotonia, and ordered an MRI.<P> At 9 weeks we got our first MRI...it was normal. The neurologist said ":somthing is not right, but I don't know what it is". We then enrolled him in an early intervention program that included the help of an Occupational Therapist, a Physical Therapist, Infant Massage Therapist and a Speech Therapist.<P> John Dylan continued to be a happy baby who just captured everybodys heart. He would always smile and managed to meet all of his physical milestones on the late side of average. We were in hopes that he was going to outgrow this hypotonia. His speech continued to be above average, as was his cognition.<P> Our pediatrician ordered some blood work to give her more information on John Dylan. His CPK came back slightly elevated 216....they ordered it again and it was 220. Both times it banded for his heart muscle. They immediately did a EKG and echo...both of which turned out normal. The Dr. then said that it wasn't Muscular Dystrophy because his CPK would be much higher if it was...and he was too little to show symptoms of MD.<P> At 6 months of age John Dylan was hospitalized for a bi-lateral UTI. He was diagnosed with bi-lateral hydronephrosis and kidney reflux grade III with a Hutch diverticulum on the Right side. He was given prophalactic antibiotics and released 1 week later.<P> At 9 months old we saw a geneticist and a dysmorphologist. They felt that he looked "too normal" to have a genetic problem. And they felt that he might have a mitochondrial myopathy, or something may show up in a muscle biopsy. If we were going to go under anesthesia for any reason then we were to get the muscle biopsy done at that time.<P> By 12 months of age we had two problem areas. Eating and using those little legs. John Dylan was able to pull himself up on the furniture, but unable to stand independantly. He could not eat food....the only successful source of nutrition was breastfeeding. He would even gag on a bottle, and could not suck hard enough on a sippy cup with the valve in it.<P> We had a muscle biopsy done when he was 15 months old, which showed that he had congenital muscular dystrophy. The Dr. then ordered it tested for Merosin, which came back normal. The clinical diagnosis is now Ullrich Muscular Dystrophy. He has extremely hypermoblie joints, and very low muscle tone, he is ahead cognitively, but has been unable to walk with out the help of his Rifton Gait trainer.(A fabulous peice of equipment) Each time they have drawn blood on John Dylan the CPK is slightly high and higher with each draw. Our last CPK was in the mid 300's. He is still super happy and intelligent.<P> In January 2004 we had a complete work up again, the MRI was normal, the EKG and echocardiogram were normal and his kidneys looked good for the first time ever! Thank God! John Dylan may be outgrowing his kidney reflux which would be an answer to prayers!<P> The eating was worked on through a feeding group, but at 16 months old he was only 16 pounds, and ended up on a NG tube for Failure to Thrive. In March he will be 25 months old and we are going to put in a g-tube, as we have been unseccessfull in weaning him off of the tube. We are hopeing to get his weight back on the chart, as of now he is 21 pounds and 24 months old. We are also looking at some type of AFO for his feet...they still are very hypermoblie, as are his hands and fingers. We are currently waiting on the collagen testing, and a genetic work up done on a skin biopsy. It should be here by the end of the month!<P> By 18 months old we were notified of his Ullrich Congenital Muscular Dystrophy diagnosis. He has a mutation in the Alpha 2 chain and has a Dominant De Novo mutation. This means that his mutation is new to him and that John and Myself are not carriers of the disease. We were also told that he has a dominant De Novo mutation of Bethlem myopathy as well on the other chromosome. This is so unusual that he is the only one in the world that has both Bethlem and Ullrich. The Dr stated that he did not know how this would affect him, but I figure it would make him a little more severe of a presentation that other children with Ullrich alone.<P> At 20 months John Dylan was walking very well with support. He could cruise around on the furniture, and walk while you held his arms. He was starting to use parallel bars to tape steps and he could cruise around in a Rifton Pacer Gait trainer. This walker type device would support him between his legs so he could “walk”. He loved it and could get around quite well while on smooth surfaces such as linoleum. We also got him some AFO’s or ankle foot orthotics to support his very floppy and unsupportive feet. The knee reaction would force him to straighten out his legs while he walked and hold the ankles straight. We tried these faithfully for 8 weeks and he learned to walk on his toes with his knees bent because the orthotics were too heavy. The Dr. didn’t like that, so he cut them down to just support the ankles, but with the removal of the orthotics we had noticeable hamstring tightness (our first contractures). <p> At 24 months John Dylan was further away from walking. He could not get the gait trainer to move on carpet, or on the sidewalk due to the cracks that would stop him. Pavement was impossible and we knew that this was good exercise, but would not be his main means of transportation. We started the quest for a power wheelchair. It took us 9 months and 4 denials to get a power wheelchair approved for our 2 year old but we got it and it was well worth the fight. John Dylan learned to drive his wheelchair well in about 6 weeks. We started in the yard and worked our way down to Wal Mart/ Church, etc. until we could move into the house. <P> At 2 ˝ John Dylan could no longer walk with assistance unless we help 90% of his weight. He was continuing to grow taller, but not to gain weight. He was weighing approximately 22 pounds. We ended up putting him on a permanent PEG tube that is inserted through the belly and into his stomach. The procedure went well and was the best thing we did to help John Dylan. No more taping the tube to his face, and changing it (which he hated) no more noticeable difference for him to others. He was just a cutie.<p> John Dylan also started to develop contractures in his elbows now, but they were quite slight…in fact I didn’t know he had them until they went to measure his arms and they were there at about 3 degrees. By now I was bracing his legs nightly to try and keep them straight and they were at about 20 degrees. <p> By 3 John Dylan was using his wheelchair for getting around in public which saved my back a ton. He was about 24 pounds and staying fairly healthy. He developed curls on the top of his head which I love! And he is adorable. He will “shoot” the people at the stores if they look at him for too long and growl at them. I just let him as it is one area he needs some control over…besides it is rude to stare. John Dylan is potty training and doing great with the pee.<p> At 3 ˝ John Dylan took his second sleep study and showed hypopnea…periods of time during his sleep where he would not breath sufficiently. He had always sweat in his sleep, and this shallow breathing could be part of the problem. The Dr recommended Bi-pap machine for him. He really took it like a pro and after 4 nights would sleep almost all night with it on. We call it his super-nose, and he does pretty well. No more sweating in his sleep and he has not had a cold since. John Dylan’s contractures are significantly worse now. His elbows are at 25 degrees and his legs are at 40 degrees. He still knee walks to get around and talks up a storm. His fingers and toes are still super flexible, and he is still my smiley valnetine. John Dylan is completely potty trained and just needs help on and off of the potty and dressing but no more diapers!!!<P 4…this week my guy turned 4. He is in D.D. Preschool 2 days a week. He is very bright and gets along well with the other students. He is falling more when he plays so he has his own aide in the classroom. He is struggling with potty training still as the bowels seam to be hard to control anymore. We are hoping to work something out though. He is still a knee walker and his friend will often join him in that mode getting around. We are getting new buttons for his wheelchair that are easier to push as sustained pressure seams to be difficult for him. He can climb in and out of bed now with the aide of stairs that Grand-pa made for him. And can also get out of the wheelchair without lowering it. He loves horses and we hope to get him into therapeutic horseback riding soon. </font>
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"...a true Valentines Day gift from God"
"...a true Valentines Day gift from God"