Teaching Cause & Effect
Toys controlled by capability switches are a wonderful way to learn cause and effect. They help develop a child’s sense of control over his or her environment and increase self-esteem. Clear cause and effect is learned when a child’s actions cause consistent responses. Enabling Devices has many tabletop toys for children who are learning about cause and effect. This newsletter highlights three of them:

Curt Cheney, Age 32

Hello Mary:
   I am Sandy Cheney, the mother of two adults with CLS.  I have been on your mailing list for years and have never really submitted a profile, but have really enjoyed hearing of the updates about CLS.  I’m writing to you about our Curt.  He is soon to be 32 years old.  He was diagnosed when he was 8 years old by Dr. Robert Gorlin at the University of Minnesota, as part of a complete evaluation trying to explain his frequent drop attacks and trembling when those occurred.  
   Since our daughter was born in 1969 and our son in 1973, and Coffin-Lowry was defined as a syndrome in 1972, I believe, and they were diagnosed in 1981, I think there was not much known about it at that point.  
   Curt is significantly more affected than our daughter Tammy.  He has scoliosis and has had two surgeries for that, the last one in 1989.  Then in 1994 he had a fall and injured his neck and was semi-paralyzed for a period of time mainly in the upper arms.  
It was discovered that he had a congenitally small spinal canal and there wasn't room for enough spinal fluid around his spinal cord to cushion the cord and it got pinched and bruised from the fall.  
He was hospitalized and on steroids to decrease the swelling. He regained the use of his hands and was referred to a specialist in the Twin Cities for surgery on his neck.  He had a laminoplasty of C3-C7 which opened up the spinal canal more and gave the spinal cord more room to move.   He has done relatively well since then and has continued to be followed at Twin Cities Spine Center.  
   Two weeks ago he suddenly developed difficulty standing and walking.   We got him evaluated in the emergency room and CT scans and other films revealed some narrowing in the lumbar and sacral area which could be causing some impingement on the spinal cord. So we will be getting an MRI done April 5, and possibly progress to doing a myelogram.  
We also got him in to be evaluated by his scoliosis doctor, and when he compared his new films to his films of even 2 years ago he said there is marked deterioration of his bones. They appear to be the bones of a 50-60 year old. 
We had been told after a recent physical that he has arthritis in his hips and also his chest x-ray showed bones of a much older person.    
   Are you aware of the advanced bone deterioration in CLS patients and if so do you have any information.   Most everyone we see here in Minnesota know nothing about it or Curt is the only person they have seen with the condition.  They research to find out basic info. But I wondered if you had anything that would help us out.   This would most likely just be for information only as our options will be quite limited for surgery for him due to the bone deterioration.  
   The scoliosis doctor explained that his laminoplasty has become unstable in one area and depending on the MRI results or myelogram results and after seeing his neck surgeon in April we will be evaluating our options.   If there needs to be further stabilization of his neck or lower back and it goes into where he already has rods that the rods would need to be removed and reinserted.  Then the reality is that due to the bone condition, he most likely would just start to fall apart.  
Our other options are most likely going to be braces and wheel chair to keep him from falling and further injuring his back or neck.  
   Our Curt has been such a wonderful young man.  He is always so happy and smiles constantly.   He is verbal and can crack some pretty good jokes and is very witty in his own short sentenced way.   Everyone loves him who comes in contact with him.  He also has a gigantic pain tolerance and we have been told that looking at the condition of his back that he should be in a huge amount of pain and if he is you would never know it.   He is the light of our life and an inspiration to many.  

Vern & Sandy Cheney
Barnum, MN USA

 

Andrew Ausdenmore, Age 13

   Andrew is now 13 yrs old. He attends public school and is in 5th grade. We just relocated to North Carolina from Mississippi in Oct 04 and are still looking into what resources we have in our area. We finally have narrowed down an appointment in May with the Neurologist at Chapel Hill.
   Andrew has been on Lamtical for the drop attacks for two years. He is currently taking 300mg a day which has helped decrease the drop attacks by 80%.
   We recently had his annual IEP with the school where they have changed his EC rating from EMD to TMD. We are now looking at which school will be accommodate him next year. He is very outgoing and loveable. He was involved in Mississippi with Special Olympics where he liked bowling he best. He even broke 100 once or twice.
   We are just now starting to experience some behavioral problems with Andew. If anyone has anymore information in that area it would helpful.  Thanks.

Lori and Rob Adkins
Fayetteville, NC USA
 

Amy Moses, Age 7

 Dear Mary

   Thank you for sending us the CLSF news on behavior issues. It was very interesting to read, as we are having problems with Amy’s behavior. We are currently using a behavior program but we are failing.  Otherwise we are concern about a few things at the moment:

   If you have any information on any of the following issues,  please let me know.

Best wishes

Kerrie Thomas/Nigel Moses 

South Wales  GREAT BRITAIN

   Precocious puberty means having the signs of puberty (development of breasts, testes, pubic and underarm hair; body odor; menstrual bleeding; and increased growth rate) earlier than usual. Precocious puberty is when the signs of puberty appear before age 8 in a girl or 9 1/2 in a boy.

   Most cases of precocious puberty have no known cause. In some cases, the pituitary gland, which regulates the release of most of the body's hormones, signals the ovaries and testicles to begin hormone production prematurely. Signs of puberty may also appear early because of ovary and testicle abnormalities. Some causes of early puberty include McCune-Albright Syndrome, and spina bifida with hydrocephalus.  It is unknown whether CLSF is a cause of early puberty, but it certainly could be a factor.

   Some possible underlying causes of precocious puberty without any known cause are thought to be obesity, social factors, and environmental contamination.  You mentioned weight, but didn't go into specifics. Weight can have an effect on early puberty. So that, combined with the underlying condition of CLSF, could be the reason.

   You didn't give me any specifics on the problem behaviors so it is difficult for me to advise you. First make sure there is no underlying medical condition that is causing Amy discomfort and making her act out. You may want to try one of the seratonin-reuptake inhibitors that I mentioned in the last newsletter. Talk to your doctor. –MCH

Dear Mrs. Hoffman,

   Thank you very much for the latest issue of CLSF news, with its fine portraits and thoughtful discussions. And thank you for last year’s issues, too. I’m enclosing a fairly small check to say thank you once again. Also some day I will ask you how to pronounce Sammamish.

   This issue—April 2005—presents information about the behavior problems of these children and teens. I wish I could help their families; and I think that one idea might offer some assistance.  Check their hearing and vision. An additional idea is this: search for sources of pain. Our people often have pains in teeth, head, sinuses, back, stomach and elsewhere, and they don’t always tell us that they have pain and where the pain is.

   I could go on and on about falling attacks and about epilepsy, but I’ll be more brief and offer one comforting observation—normal people who faint often show seizure-like clonic movements for a second or two while they are unconscious. These movements are not signs of disease.

  Thanks for all the good work that you have done, and best wishes for a long happy successful future.

 Warmly,

Grange Coffin.

 Yes, that Grange Coffin. —MCH

 P.S. It’s pronounced “sa-MAM-ish”.

Mark Blyth, Age 9

Dear Mary,

   Mark went into hospital to have his growing rods put in his back in November. I thought that he was doing alright but on Boxing Day he was taken to my local hospital because I could smell a horrible smell coming from under his plaster. I didn’t know whether it was a sore under his plaster or if it was stale blood. I took him to hospital and they kept him in as he had got an infection in his wound. They put on another plaster as the one that was put on was a little loose.

   He had his birthday in hospital so now he is 9 years old. He was there for a week. He was on antibiotics and they took his plaster off and they let him home, but he was home for one night and the next day he wouldn’t let me touch him. He didn’t want to get up and wasn’t walking properly, so I took him back to hospital at London. They opened him back up again and removed the rods as that was where the infection was coming from. He was kept on high dependency for a whole day and a night as well as another night. He was only meant to be there for a night but they kept him there for longer as his heart was running fast and they were worried about him. He was still on antibiotics through his veins but now although he is still on them, he is taking them orally.

   The hospital is now going to wait until he has finished his antibiotics and his wound has healed up and everything has settled down in about 6 months, and are going to try again to put more growing rods in.

Jacqueline Blyth 

Bedford,  GREAT BRITAIN 

Michael “Travis” Rector,  Age 28

 Dear Mary,

   Travis is now 28 years old. He is doing very well. He had a rod put in the lower part of his back for scoliosis. That has really helped a lot. His left leg is still shorter than his right so he still needs shoe lifts on his left shoe.

   A few weeks ago he had a regular physical. His doctor said he’s doing great and all his blood work came back OK. He has gained some weight over the holidays and his doctor told him not to gain any more.

   He sees a dentist regularly and does have some problems there. His dentist told him to let his father or me brush his teeth, he says okay but then won’t let us. He’s very stubborn about some things.

   We recently had some deaths in the family, 2 of his uncles. He went to the funerals but won’t go near the coffins. We have explained death to him as best that we can, he seems to accept is as best as he can. He doesn’t cry and I do wonder what he’s thinking but he won’t say. He gets nervous and upset when he’s in situations he doesn’t understand and shakes. He won’t watch scary or violent movies on TV. If one comes on, he leaves the room and watches his TV—only comedies.

   He’s still not working. We live in the country and it’s hard to get him to a town to work and still n one will take responsibility for him. As he is mentally maybe 6 years old, he just can’t grasp a lot of things. So he stays with me and his father or sometimes he will stay with one of his brothers.

   He is really a lot of help to me. He has a great disposition, but once in a great while he will get what we call an “attitude attack.” He will stomp on the floor and I’ll tell him to go to his room until he calms down. He will cry, slam drawers in his room and slam things down but he never breaks anything or gets violent. When he calms down, he will come back out and everything is fine. I think just like everyone he just needs to vent his frustrations once in awhile. He is our blessing!

   May God bless you and yours and everyone in the CLSF family!

Michael & Kay Rector 

Unionville, VA USA

Davis Illa, Age 17

   Davis's spine is changing. His upper thoracic spine is curving inward towards his chest, a condition known as lordosis. The curve starts at the top of where his existing hardware stops. We theorize that the unfused part of his spine continued to grow after the fusion.
Spinal fusion is generally not done until the age of 12 since by that time, most of us have 90% of our spine growth. As most of you know, people with CLS have unusual bones - a person who is 11 years old actually has the bones of a 9 year old. Davis was 11 when he had his first fusion. So when Davis had his first spinal fusion, the surgeons didn't account for this potential additional growth. This is something that anyone considering spinal fusion should make sure that the surgeon is aware of. There are different types of hardware that can be used that will allow for future growth.  

   The curve is so severe that as his spine pushes towards his ribcage, his trachea (windpipe) is being crimped in between (at about the level of his collarbone). It is as if you put your foot on a garden hose and stopped the water from going through. If you take your foot off, everything is fine. His respiratory system appears to be pretty good above and below this area.
Fixing this is by pulling the spine back out to where it should be is very risky with potential for paralysis or mortality, since it entails cutting through the fused spine bones. The alternative is to pull the chest bones out far enough to make room for the trachea to function properly. This is what we are investigating now with the chief of surgery at Children’s Hospital in Seattle. This surgery carries far less risk than fixing the spine, but is still major surgery. We hate the thought of putting him through it, but if it would be guaranteed to improve the situation, it might be worth it.
If we do nothing, Davis will become much more susceptible to complications from flu such as pneumonia and other respiratory problems.  

Mary Hoffman

Sammamish, WA

Curt Cheney, Age 32

Hello, Mary

   Our Curt had his first scoliosis surgery done and he had a luque rod instrumentation and wiring all along his thoracic spine, only in the back of the spine. He had impingement of his heart and lungs where his spinal column was pushing on his heart and lungs. He had only about 1-1/2” of space between the front of his spine and the back of his sternum at certain points. When the first surgery was done they were able to pull the spine back to make more room for the heart and lungs. He had a growth spurt later on and because the back of the spine had not been wired the vertebrae did not grow there, but grew in the front and corkscrewed off to the side. His bone grafts were placed, some were solid and some were not, so he ended up with a real mess.

   The second surgery was Harrington rods and were only able to stabilize, not get good straightening. Now as you know we are in the process of figuring out about his neck slippage. We have an appointment with the neurosurgeon to find out about the MRI’s of his neck and lumbar area, then next week for the neck surgeon that did his original laminoplasty.  

Vern & Sandy Cheney
Barnum, MN
 

In Memoriam—Milton Quentin Scowcroft

   Milton Quentin Scowcroft, of Mt. Pleasant, SC, died Wednesday morning, April 20, 2005 at a local hospital. A private memorial service was held in Bristol, Rhode Island.   

   Mr. Scowcroft, son of Robert J. and Sarah Scowcroft, was born on November 3, 1921, in Providence, Rhode Island. 
As a youth, Milton contributed to his family’s financial well-being by working numerous jobs, as many as three at a time. He was particularly proud of his membership in the Steamship Clerk’s Union. Milton served honorably in the Navy during World War II. After returning home, he worked his way through college and graduated from the Rhode Island School of Design with a degree in textiles. He met his future wife, Carolyn S. Kenney, at the Rhode Island School of Design. They were married June 4, 1949. 

   Milton worked for Raybestos–Manhattan for almost 40 years and moved his family, at the company’s bequest, from Cranston, RI to Orange, CT to Lancaster, PA, to Weston, CT, and finally, to Summerville, SC. He retired to Wild Dunes at Isle of Palms and later moved to Mt. Pleasant. Milton particularly loved golf and, for over 50 years, played some of the greatest courses on earth. His love of sports was all encompassing. The Red Sox’s 2004 World Series victory represented the pinnacle of his personal advocacy.  

   Milton’s love for his wife, children, grandchildren and daughters-in-law surpassed all other interests. He wanted to be known for his support of the underdog, for his statement “always do things right,” and for being an unabashed liberal. 

   He was preceded in death by his wife of 53 years, Carolyn Scowcroft. Surviving are two sons, Robert J. Scowcroft, and his wife Judith Fried*, of Santa Cruz, CA. and Peter K. Scowcroft, and his wife Nancy Lafargue, of Crosby, TX, and two grandchildren Ian and Katy Scowcroft, both of Santa Cruz, CA. 

   In lieu of flowers, gifts may be made to The Coffin-Lowry Syndrome Foundation, c/o Mary C. Hoffman, 3045 255th Ave., S.E. Sammamish, WA 98075. 

Note: The following newspapers published this Obituary: Providence Journal; New Haven Register; Bridgeport Post; Lancaster Intelligencer Journal; Charleston Post & Currier

*Robert Scowcroft and Judith Fried are the parents of Ian Scowcroft, Age 20, who has CLS.
 

Wendy Wilson
107 Ashburnham Road

Northhampton, NN1 4RA GREAT BRITAIN
01604 710444
Addresswendynogs@hotmail.co.uk
Connor Stannard, Age 3
Thomas Stannard, Age 2

Kathy and Rob Garrison
774 Garner Run Road

Waynesburg, PA 15370 USA

724-627-9359

kathygrn@alltel.net
Noah, Age 5

Thanks for Caring!

The following families or individuals have recently made generous donations to the Coffin-Lowry Syndrome Foundation:

Judith Fried and Bob Scowcroft

In memory of Hazel Houghton

Shirley and John Walter

Grandparents of Jacob Walter

Grange S. Coffin, MD

The following donations were made in memory of Milton Scowcroft

Theresa C. Peck
Shirlee A. Bentley
Howard and Jean Herr
Judith Fried and Robert Scowcroft
N. John and Susan B. Garcia
Bonnie K. Wells
Crawford K. Small
James and Kathryn Owens
Wild Dunes Bridge Club

Louis A. Fazzano

Eileen S. Buckley

Arvid and Claire Honkanen

Send your donations to:  

Coffin-Lowry Syndrome Foundation

c/o Mary Hoffman

3045 255th Ave SE

Sammamish, WA 98075 

(U.S. Funds, please)