Sunday, April 23, 2006

About Dear Son

We had many discussions around the children. Not all at once of course, but peppered throughout our three and one half year courtship, conversations of children would come up. We had both wanted children and had talked about how we would get married, get a house and then start our family. I was a June bride and we lived in a duplex after we were married. Eleven months later we bought our first home. We worked together for a few years after that waiting until we had enough money, or so we thought, to start our family. Five years after we were married, I was pregnant with Dear Son.

Dear Son was born via C-section due to his large size. He was the product of a full term birth with Apgar scores of nine and nine. This was the first and last time he would score well on any standardized test. Over the next year and one half, Dear Son battled seizures and a host of issues that came along with them. I replayed the pregnancy over and over in my mind, to try to figure out what went wrong or how this could have happened. Interestingly enough, there were two other babies within a ten mile radius of us who had baby boys with severe seizures. I know this because the hospital where Dear Son was being treated, shared the names of these parents with me, both of whom were patients of Ped Neuro Doc. At times, I wondered if there could possibly be environmental factors that may have contributed to his issue. Other times, I would replay everything I ate during the pregnancy, wondering what could have caused Dear Son’s issues. I never drank during any part of the pregnancy, and if the truth be told, I rarely if ever drank. I had never taken recreational drugs in my entire life so I know that wasn’t a factor however wondering what caused Dear Son’s disabilities would often hover in my brain like a dark cloud over a beautiful garden.

When Dear Son was a year and half, I had my tubes tied. Not knowing what caused his disabilities, I was not willing to take a risk with a second child. We had genetic counseling and since Dear Son’s condition was of unknown etiology and there was no family history, that the odds of having another child with a disability was very small, although a little higher than the average population.

Perhaps one of the things that bothered me the most was “not knowing” what caused Dear Son’s issues. I prayed for answers.

In December of 2002, when Dear Son was eleven years old, my prayers were answered. One of the geneticists, who had recently discovered mutations in the Aristaless Gene, also known as ARX, was doing rounds during one of Dear Son’s extended hospitalizations. His research paper, “Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genetalia in humans”, had just been published in the November, 2002 issue of Nature Genetics, Volume 32. Upon a review of the health history, he noted that Dear Son had infantile spasms in the neonatal period of unknown etiology. He asked a few more questions, reviewed the clinic notes from Ped Neuro Doc and asked if he could test Dear Son. Dear Son was tested and tested positive for one of the three patterns of the gene.

Dear Son has Partington’s Syndrome, which is characterized by seizures, dystonia (movement disorder) and mental retardation (Dear Son is severely retarded.) While Partington’s Syndrome is not rare, his was caused by a mutation of the Aristaless gene or “ARX” gene for short. There are three patterns of the gene and Dear Son was the first person in the world to be identified with the first protein pattern, which is one of the three patterns of the gene. People with ARX are also born without any GABA. After his testing was completed, a Dear Son mouse was created to learn more about this gene pattern. The ARX gene expresses itself in vitro and while it is considered a “mild” gene defect as genes go, it can cause some of the most “severe” disabilities. This gene discovery was considered a major gene discovery and initially was thought to rival Fragile X Syndrome. Dear Son was tested for a mutation of the ARX gene because he had infantile spasms of unknown etiology, myoclonic seizures, mental retardation and dystonia, so they thought he might have ARX. Since this gene is X-linked, I was tested, but I did not have the gene; hence Dear Son’s ARX mutation occurred at random.

At the present time, Dear Son has intractable seizures, a Vagus Nerve Stimulator (VNS), is on six seizure medicines which I administer four times a day, and two GI meds. The ARX gene appears to have a GI component to it, but not much is known at this time. He has a feeding tube that is used primarily for meds at this point. He has no language and is not toilet trained.

Dear Son has endured numerous hospitalizations, including many in 2004 at which time he never fully recovered. In August of 2005, his pediatric neurologist, who has followed Dear Son since he was two months old, informed me that he has a degenerative condition. At his peak, Dear Son could walk with a gait trainer or on his knees. At the present time, he can not sit, stand, walk and for the most part, is bedridden.

Since the gene was discovered, they have identified additional cases. Unfortunately, the bulk of the new cases fall into the other other two patterns of the gene and only four to five additional cases are known that are identical to Dear Son.

If you would like more information on the Aristaless gene, or ARX as it is known, it can be found on Pub Med. I have yet to find this information anywhere else.

As a Public Service Announcement, I have asked the geneticist for some additional questions that you may find helpful:

Who should be tested for ARX?
“Infant boys with (1) infantile spasms, (2) atypical spasm-like seizures in infancy plus mental retardation(MR), or (3) MR with involuntary movements from early infancy. Older boys with (4) MR and involuntary movements, (5) older boys with MR and seizures, (6) girls with agenesis of the corpus callosum and seizures, and (7) boys with the XLAG syndrome (XLAG = X-linked lissencephaly with abnormal genitalia).”

How many boys have been identified with ARX to date (all three patterns)? Of that number, how many have been identified for each of the three gene patterns?
“More like two gene pattens. For the severe malformation (XLAG), it is about 30. For the infantile spasm and related group with no apparent birth defects, we are putting a paper with ~7-8 together, which when added to maybe 20 in the literature is also ~30. But this is growing fast. We are putting a paper together of ~5-6 boys with the identical mutation as Dear Son.”

*Note: If you would like any additional information, please e-mail me with your information at and I will respond to your request.

Photo is of Dear Son, age 11.

*On 10/26/06 I met with the geneticist. The Partington's Syndrome was dropped from his diagnosis and the new diagnosis is simply called, "Cryptogenic Infantile Spasms caused by the ARX mutation". You can read more about his visit here.


Hsien Lei said...

Dream Mom,

I came across your blog via Grand Rounds and was instantly touched. Thank you for explaining about this rare disease in such lucid detail. I hope Dear Son's seizures have abated for now and you can get some rest as well.

BTW, you're our featured blog at Genetics and Health this week:

Partington Syndrome and Blog of the Week: Dream Mom

Hsien Lei said...

Thanks for fixing that link for me, Becca! Hope you both have a great start to the new week.

Anonymous said...

we are each of us angels with only one wing and we can only fly embracing each other. i embrace you.

TC said...

God bless you for the hard work you do taking care of your son. I found your blog after you posted on my site. I used to work in a PICU and we had a lot of kids with various genetic syndromes who required "complete care". It must be hard.

dki617 said...

A fascinating entry. I would so love to know what caused my daughter's disabilities. Maybe someday....

purple_kangaroo said...

He is a beautiful child with a great smile. Thank you for sharing his story.

Life Bringer said...

Hi, I found your blog on a search of the 'aspiring to be great'.
I started reading a bit, but your words completely absorbed me.
Your reality is touching and quite beautiful.

Thank you for sharing your life. And, thank you for sharing your son's wonderful smile.

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