The Diagnosis – Part 2

Posted on August 22, 2011 by elle9132


The Diagnosis 2_0 "The Diagnosis 2_0"

There were three additional common traits of Trisomy 9. Three, which at this point we did not know if Ben carried. They were moderate to severe mental retardation, cardiac abnormalities and abnormalities of the renal system. The doctor suggested that our next step would be to undergo testing to find out if there would be any problems in these three areas. He recommended that we have an echocardiogram, a renal ultrasound and a complete developmental assessment done as soon as possible. As we were leaving, we asked if he could provide any case studies that might help to better educate us about Ben’s condition.

It wasn’t until I actually sat down and read these case studies, that I realized exactly what we were dealing with. I know that the doctor explained things that day, but my state of mind just did not allow me to absorb everything he was saying. I vividly remember reading the case studies and coming to the realization that we were not only dealing with a possible intellectual disability; we were looking at complications that could result in Ben’s death. The statistics were not in his favor. It appeared that the major organ defects that the doctor had spoken of were commonplace with these children, and the outcome was most-often a life span of less than ten years.

I can’t even begin to describe the “place” I was in at this time in my life. My only child had multiple challenges as a result of a genetic abnormality that I had passed to him. There was a real possibility that he could have life threatening medical problems sometime in the near future. I’m embarrassed to say that I spent as much time feeling sorry for myself about the “hand I had been dealt”, as I did worrying about my baby Ben. However, I should not be too hard on that person I was twenty years ago. I think all young parents have this “fairytale” idea of how life will look once you get married and have children

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. That “fairytale” vision doesn’t exactly fit life with a special needs child. It took me some time to realize that though life was different, it didn’t exactly mean it had to be less fulfilling. In fact, I can honestly say today that I can’t imagine how my life could have been more fulfilling without Ben constantly reminding me of the basic joys in life, that many tend to forget as they become older and more jaded.

My feelings at this point : As I mentioned above, my state of mind at this point was pretty self involved. However, I don’t want to be too hard on myself because ultimately I did what I needed to do for my son every step of the way. Faced with the challenges of a special needs child, one is forced to grow up quickly. Those feelings of self pity are normal and probably have some purpose in helping one prepare for the future. The important thing is, if after a few months you can’t pull yourself out of the out of the mire of self pity, get some professional help. I had completely forgotten, but Dennis and I met with a counselor not long after Ben’s diagnosis. It was very helpful because I have a tendency to internalize things and was feeling quite guilty about being the one who had caused our predicament. I honestly thought Dennis had every right to blame me for what we were going through. This forum gave us the opportunity to talk about it. Dennis was able to convince me that he did not blame me, and it went a long way toward healing me. …But there was still a long road to hoe.

Posted in Cerebral Palsy, Disabilities, Intellectual Disabilities, Special Needs, Trisomy, Trisomy 9 | Tagged , , , , | Leave a comment

The Diagnosis – Part 1

Posted on August 18, 2011 by elle9132


diagnosis 1_3 "diagnosis 1_3"

August 31, 1990 is was certainly a memorable day. It’s the day we finally got an answer. Little did we know, this answer would lead to many more questions. While it is a day I will never forget, the details of the meeting are a little foggy due to the “shock” I felt as the news was delivered.

“Bennet’s chromosomes revealed an abnormal karyotype consisting of 47, which included 46 chromosomes arranged as 23 pairs, as well as an extra derivative chromosome consisting of the centromere and proximal portion of chromosome 21 with a translocated portion of the long arm of chromosome 9 attached to that 21 portion .”

Huh?? In other words there is an extra piece of Ben’s number 9 chromosome attached to the number 21 chromosome. And how did this happen? The test of my chromosomes revealed that I have a balanced translocation between the number 9 and the number 21 chromosome; meaning that I have the right amount of genetic material, only it’s in the wrong place. This has no consequence to my health. However, when my chromosomes are passed to offspring there is about a one in ten chance that the pair I pass along will create an imbalance. Such is the case with Ben. Because of the involvement of the 21 chromosome, the specialists in Texas actually first suggested that it was Down Syndrome. Down Syndrome results from a Trisomy 21, or an extra 21 chromosome. Our doctor asked that they “re-look “ because it was obvious by looking at Ben, he did not have Down Syndrome. That’s when they concentrated on the number 9 chromosome and were able to pinpoint the abnormality.

Ok, now we know what it is; so what does it all mean? The doctor made it clear that there were very few documented cases of Trisomy 9, and only six included the 9:21 switch. There really wasn’t enough data available to give us a good prognosis for Ben. However he did give us a fairly comprehensive list of common traits and symptoms among the few case studies that were available:

1. Narrow Head – a Ben trait
2. Delay in Growth – a Ben trait
3. Delay in Development and Learning Abilities – a Ben trait
4. Deep-Set Appearance to the Eyes – a Ben trait
5. Prominent Beaked Nose – a Ben trait
6. Small Mouth – a Ben trait
7. Small Recessed Chin – a Ben trait
8. Long Fingers and Toes – a Ben trait
9. Low Birth Weight – not a Ben trait
10. Joint Abnormalities – not a Ben trait

Prominent Nose, Small Mouth & Recessed Chin

Ben’s severe hypotonia, lack of muscle tone, did not show up in other cases. Ironically, this was the one factor that seemed to be most hindering his development at this stage

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. Once again, I have to wonder how different Ben’s life would have been had we gone through with the c-section and avoided the trauma of the forceps delivery. How much did the lack of oxygen during childbirth contribute to Ben’s cerebral palsy? That’s one question to which we’ll never know the answer.

Posted in Cerebral Palsy, Disabilities, Intellectual Disabilities, Special Needs, Trisomy, Trisomy 9 | Tagged , , , , | 4 Comments

Laughter is the Best Medicine

Posted on August 16, 2011 by elle9132


laughter medicine_0 "laughter medicine_0"

Today, I’m going to veer off my topic just a little to impart a little advice to anyone facing the challenges of life with a child with special needs. The reason I do this, because this is one area where I got it right; and I want to share. Now, for every one thing I did right, there were about ten things I did wrong; …but we won’t talk about those…at least not right now.

I can’t tell you how important it is to keep your humor. I’ve had a personal “little rule” around my house for years. Everyone must laugh at least once every single day. Believe me, sometimes it is easier said than done. I have had to dig deep on some days to even muster up a smile, but it seems that no matter how “down” you are, the minute you start to laugh circumstances become a lot less dire

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Besides the fact that happy people are much easier to live with there are other health benefits from laughter; including lower blood pressure, increased oxygenation of the blood, improved alertness, creativity and memory.

So go find something really funny…….and LAUGH!

Posted in Cerebral Palsy, Cerebral Palsy, Disabilities, Intellectual Disabilities, Intellectual Disabilities, Special Needs, Trisomy | Tagged , , , , | Leave a comment

The Year of Questions – Part 3

Posted on August 14, 2011 by elle9132


the year of questions 3_2 "the year of questions 3_2"

As the physical therapy progressed, it was time to start the assessment of Ben’s increasingly significant mental delay. We were referred to a pediatric neurologist associated with the Medical College of Virginia. My most vivid memory of this particular doctor was not any great wisdom that he imparted about Ben’s condition or future, but it was his response to a question that I asked of him; one of the few questions that can really make a doctor squirm. I didn’t ask what was wrong with Ben; I asked why did this happen? Pretty unfair, huh? He could have said something abrupt like, “that’s a questions you’ll need to ask your spiritual leader”. But seeing that at this point I was grasping at everything for an explanation, he said something that really helped me put things into better perspective. He said, “Ellen, in all the years that I have been a doctor I have never lost my amazement for the miracle of childbirth. Millions and millions of things have to go right during conception, and the growth of the fetus to produce a healthy, normal baby. Yet it happens in our society about 90% of the time. Now that truly is a miracle”.

Since we were still without a diagnosis, the next step was genetic testing. There had been some remarkable strides made in this science in recent months and everyone felt certain that was where our answers would be found.

We returned to MCV Genetics in late July, 1990 and they did, in fact, seem to have much more in their arsenal. The doctor had close connections with the Molecular and Human Genetics Department at the Baylor College of Medicine in Houston, TX. Their work in chromosomal research had been the cutting edge in recent years. It was suggested that we not only to send Ben’s blood samples for analysis, but to also send samples of blood from both Dennis and me. This gave us great hope that, even though the testing could take up to a month be completed, we finally seemed to be doing something (anything) that would bring us closer to an answer.

Meanwhile, Ben continued to make great progress with his physical therapy. We purchased a corner seat in which he could sit with proper positioning of his trunk. The seat had a solid back and sides which gave good support and helped to build his back strength

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. We also purchased a walker for Ben mainly to be used with some of his sitting and head control exercises. It would be a few years before Ben actually used the walker for its intended purpose, and honestly at this point, I had very little hope that day would ever come. It was difficult watching other children Ben’s age starting to walk, while he was still far from sitting up. One of the many “contraptions” they used for Ben during therapy was a standing frame. It was a wooden frame with total support. While in it he could actually stand with perfect posture. I remember the first time I saw him standing in it. It almost brought tears to my eyes because he looked so “normal”.

As Ben’s neck became stronger a very peculiar behavior emerged that actually lasted for a few years. He would roll over to his stomach, bring his head forward and then throw it back just as hard as he could. I was sure he was going to break his neck or end up with whiplash. The doctors and therapists said that it was a stimulant to his body that most people get from normal physical activity. Since Ben still had severe physical limitations he had to get this stimulation in other ways; head jerking was his favorite. However, it wasn’t the favorite of the parents and doctors. We all concluded that this could not be good for him and spent several years trying to break him of the habit. Finally, as he grew stronger and was able to move around a little better the habit just went away. However he still likes to lie on his stomach and bounce; something he does for stimulation when he is tired.

July turned into August and still no news. The anxiety over what the test results would be, was almost too much to bear. The past year was really beginning to wear on me both physically and emotionally. Yet until we had definitive answers to our questions, I still held that ever-diminishing hope that once we knew what it was; it could be “fixed”. Finally we got the call. The test results were back and they wanted to see us as soon as possible.

Posted in Cerebral Palsy, Cerebral Palsy, Disabilities, Intellectual Disabilities, Intellectual Disabilities, Special Needs, Trisomy | Tagged , , , , | 1 Comment

The Year of Questions – Part 2

Posted on August 7, 2011 by elle9132


the year of quetions 2_0 "the year of quetions 2_0"

The first specialist that we were sent to was a member of the Genetics Department at the Medical College of Virginia. Dennis and I had actually met with them about a year earlier, when we had first found out that I was pregnant to discuss a history of cystic fibrosis in Dennis’ family as well as my history of congenital glaucoma. Though the gene that carries the cystic fibrosis mutation had not yet been discovered, we had been given some interesting probabilities and some good advice which led to having my ophthalmologist at the hospital to give Ben his very first eye exam at the age of one day.

This meeting was much more serious because of our desperate need for answers. On our initial visit they did an extensive examination of Ben, both physical and intellectual. Significant delay was noted in both areas, but they were unable to identify a syndrome. We agreed that they should see Ben a few times over the next few months to track his progress while they tried to determine how to come up with a diagnosis so we could finally start prognosticating Ben’s future. They recommended a referal for physical therapy services to work on Ben’s muscle tone. Next stop; Children’s Hospital.

I feel quite fortunate that we were in Richmond during this period in our lives. The specialists and facilities at MCV, Children’s Hospital and the Cerebral Palsy Center were some of the best the east coast had to offer. I can’t imagine how we would have been able to get Ben to all of the appointments had we not lived literally down the street from everything.

Our first visit to Children’s Hospital came when Ben was six months old. At this time he still had very low muscle tone. He could hold his head up but had no control to move from side to side. He had no strength in his trunk, so he still could not sit up without support. When lifted onto his feet, he made no attempts at bouncing or extending against gravity. In all, the assessment put his developmental age at about 3.5 months. They made it very clear to us that since we had as of yet no diagnosis, which would have given us a better idea of his future prospects, it was very important that we begin gross motor stimulation as soon as possible.

Over the next few months Ben began to make very good progress in his overall strength due to his physical therapy sessions. His head control became much stronger and he actually began to bounce a bit in the hanging jumper. However, even at almost one year of age he was a long way from crawling, much less walking. In fact, he did not start rolling over until he was about nine months old.

The story of Ben’s first rollover is one neither Dennis or I will ever forget. We were on our yearly vacation at the beach with my family. It was the last day and everyone was diligently trying to get everything packed before the long drive home. Since Ben wasn’t rolling over, we normally just laid him in the middle of the bed with rolled up towels on each side. In our haste to pack one of us obviously forgot to put one of the towels in place

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. At one point I walked into the room and noticed Ben wasn’t in the bed. I walked around the condo looking for the person who had taken him for one last hold and hug (Ben, like all babies, was quite popular that week with the family). However, no one had him! At this point both Dennis and I were beginning to panic. We walked back into the room for one last look before calling the police and that’s when we heard Ben’s little whimper. He had rolled off of the bed and underneath the twin bed next to it. Luckily the beds were close to the ground and the carpet was soft. What a time to learn how to roll over! You can be sure that it was a long time before we left him unattended on the bed.

Posted in Cerebral Palsy, Disabilities, Intellectual Disabilities, Special Needs, Trisomy | Tagged , , , , | Leave a comment