Sunday, August 10, 2008

Gordon Syndrome

Over the next few months, especially after Logan is born, you will notice me discussing his syndrome so I thought I might do a little explaining up front. I will try not to use incredibly big words, but let me know if you need some clarification.

My mother’s maiden name is Hopkins, and in the Hopkins family we carry a type of Arthrogryposis. Arthrogryposis is a rare genetic condition that has seven subtypes, but in general it causes joint contraction and muscle weakness. Arthrogryposis often affects the extremities, but it can affect every joint in the body. No one in the family has had specific genetic testing done yet, but the signs and symptoms that we exhibit are most consistent with the subtype known as Arthrogryposis Multiplex Congenita, Distal, Type IIA or Gordon Syndrome.

Gordon Syndrome is an autosomal dominant trait. That means that if you carry the gene, you have the syndrome and a 50 percent chance of passing it on to each child that you produce. However, the degree of severity and types of symptoms displayed by each individual seems to be totally random.

In addition to the stiffness of joints and muscle weakness typical of Arthrogryposis, Gordon Syndrome typically includes one or more of the following signs or symptoms in varying degrees of severity:

Permanent flexion or bending of fingers (camptodactyly)
Abnormal bending inward of the feet (clubfoot or talipes equinovarus)
Incomplete closure of the roof of the mouth (cleft palate)
Short stature
Short neck
Split or bifid uvula
Skin folds on the upper eyelid (epicanthal folds)
Drooping eyelid (congenital Ptosis)

In my mom’s immediate family, there are 12 people who have Gordon Syndrome within 4 generations: her father, herself, me, my 3 children, 1 of her brothers, 1 of her sisters, 3 of her nieces, and 1 of her nephews.

Because Alyssa has the syndrome, she has a 50 percent chance of passing it down to her children, and according to her perinatologist and 3 ultrasounds, it looks like Logan does have Gordon Syndrome. There is almost certain confirmation that he has clubfeet, and the flexed fingers (both of which Alyssa has) but we are fairly confidant that he does not have the cleft palate. Whether or not he has any other complications, we won’t know until he is born.

So, what does this all mean? It is vital that he have his feet corrected. Without treatment he will not walk. To do that, he will have to have casts on his feet from the time he is born until they are corrected either by the casting or surgery. They will have to travel to Kansas City every week for orthopedic visits and cast changes. Alyssa had casts until she was 6 months old, and then had surgery to correct her clubfoot (she only had 1). Christian and Nicholas were both corrected with casting alone.

As for his fingers, that is a less pressing issue. Both Alyssa and Christian have lived normal lives with flexed fingers. Alyssa did have surgery on one of her fingers when she was about 10, but she did not feel like it was a major benefit. We don’t know if she should have had the surgery earlier, but when she was small we were most concerned about correcting her feet. The fingers were more of a nuisance.

I hope that Logan’s outcomes are as good as Alyssa, Christian and Nicholas’ have been. I feel for Alyssa and Andy, because I remember what it was like dealing with those casts, weekly visits to the doctor, and hospital stays. Alyssa knows what it is like to have Gordon Syndrome. She also has the benefit of having the knowledge and experience of other parents in the family that have dealt with it. I hope Alyssa and Andy are not scared, and I know that they are preparing to do whatever is necessary to help Logan live a normal life.


Dee said...

Wow! I knew that all 3 of your kids were born with clubbed feet...but I didn't realize there was a whole syndrome that went along with it. Well, I'm sure Allysa will do fine with him. She'll have a few extra things to do for him but she'll make it through.

Suzanne said...

I was searching blogs for "arthrogryposis" and came across yours. I have two children with arthro, genetic type Multiple Pterygium Syndrome. It has been hard for me to find others w/ multiple cases, let alone a whole family w/ history. We live in the Kansas City area and see several doctors here, as well as in St. Louis. I would love to talk with you personally if you are willing. My e-mail is I look forward to hearing from you.