Noonan Syndrome (NS)
Support Group Introductions
Robinson, Wanda (as at 11/99)
Hello, we’re the Robinson family from Upperco Maryland. Dave, also known as Wanda’s husband, is writing this following our 1999 conference. Although the list below seems daunting, we are not a glum bunch! Since Wanda started The Noonan Syndrome Support Group, we have a continually growing network of friends that are only a phone call or Email away! We have also found that the more we focus on being available to help other affected families—the less time we have to wallow in self pity.
We’ll begin with some of our experiences living with Noonan Syndrome issues. Darcie, our oldest child, was born four weeks premature in 1986. After a few days in the hospital, due to a jaundice condition, she was sent home weighing 4 pounds 13 ounces. We also had scheduled a cardiac appointment to determine the cause of a heart murmur.
The first cardiac diagnosis was Patent Ductus (sp). We were scheduling surgery to repair the hole, but decided to obtain a second opinion. The subsequent cardiologist found that she had Pulmonary Stenosis, and that she did not have a hole in her heart. Thankfully, we canceled the first surgery. Darcie’s condition has been watched by Dr. Joel Brenner, and he determined that periodic monitoring would be sufficient. Initially we saw Dr. Brenner yearly, but since the condition never worsened, Dar only has to see Dr. Brenner every three years. This condition does necessitate using an anti-biotic prior to dentist visits.
The low birth weight evolved into what was called "failure to thrive." It’s hard to hear that term without feeling accountable as a parent—especially when family members and school mates constantly comment on her short stature and "thin" physique. I can assure you that we tried all sorts of tricks to get Dar to gain weight without success. We had her growth plotted on a growth chart, and she remained under the lowest level on the chart. There were periods when she simply did not grow. We found that her growth hormone levels tested at "normal" levels, but we decided to give growth hormone a try. After a long period of using hormone therapy, we decided to cease the shots. She did continue to grow while on the therapy, but remained under the chart’s lowest level for "normal" growth. At 13 years old, Dar is 54" tall and weighs 62 pounds. Although the size issue has presented some REAL challenges, she has become very comfortable with her appearance.
At some point in Dar’s first few months, we started looking for a reason to explain her conditions. It wasn’t until 1989 that we sent her history and photos to Dr. Judith Hall in Canada for analysis, and we were given the NS diagnosis.
Dar was treated for allergies from an early age until it was determined that she had asthma. After a few visits to the ER caused by breathing distress, it was determined that she did not have asthma. Her breathing problems had been caused by a condition known as Laringo Malatia (sp) or a floppy larynx. The larynx problem can worsen with stress.
Another characteristic typically found in NS kids is heavy eyelids, or Ptosis. We considered having this condition surgically corrected, but we opted not to have it done. Her vision is not affected, and the results of this corrective surgery are not guaranteed. She has become accustomed to people saying that she looks tired. Again, it’s an issue that family, friends, and school mates tend to make worse with each comment. She is less tolerant with people who make thoughtless comments, and she tends to respond to such comments with increasing confidence.
She has a factor 11 clotting deficiency. This means that a hematologist must be consulted prior to any surgery. We’ve yet to see this condition manifest a bleeding problem, but we take steps to prevent any possible bleeding problems. She tends to bruise heavily and often. These bruises can cause some odd glances at times, but we stopped feeling guilty about it. The bruising is part of the blood factor deficiency.
Dar has never seemed very coordinated. This is also a typical trait of Noonies. We found that dance classes and karate have helped greatly.
Dar has a learning challenge that is called non-verbal. Her verbal skills are well within the normal range, but her non-verbal ability reasoning is below normal. Her IQ testing demonstrates a 30 point spread between the two. She also seems to have separation anxiety.
We don’t know if any of the following is clinically connected with Noonan Syndrome; however, we feel that it is significant. Dar has had headaches and dizzy spells that have worsened over the past five years. After years of searching for answers, we were sent for an MRI. The MRI revealed a condition called Arnold Chiari Malformation 1 (ACM1). We’ve seen Dr. Ben Carson at Johns Hopkins, and surgery is scheduled for December 14th, 1999. After reading our conditions that are typically common with persons having a Noonan Syndrome diagnosis, consider that there are several conditions that A.C.M. manifests that bear resemblance to Noonan Syndrome anomalies. Hindsight is 20-20, but it is our opinion that a M.R.I. was indicated five years ago. We can’t say that NS and ACM1 are linked, but with our experience we CAN say that headaches, dizzy spells, and larynx problems coupled with lower than average coordination do warrant an MRI!
WHEW! This list is really not as serious as it sounds. If you know Dar, you know that she is very active, very upbeat, extremely social, and just an absolute pleasure to be around! We would not change a single thing about any aspect of our lives! If you feel a need to talk about your own situation—that’s what we’re all about. Just sign up with us, and it is our hope that you will find the same warmth, compassion, and support that we have found. What do you have to lose?
Wanda Robinson
PO Box 145 Upperco, MD. 21155 USA
1-888-686-2224 within the USA or 410-374-5245
Telephone service is funded by a grant from The Genetech Foundation for Growth and Development
wanda@noonansyndrome.org
The Noonan Syndrome Support Group, Inc. and any associated parties will not be held responsible for any actions readers take based on their interpretation of published or disseminated material. Please review medical treatment and decisions with your physician.