Thursday, May 20, 2010

Potential New Diagnosis


You have never had blood work done to get a clear cut diagnosis -- never had a DNA test of any kind. Your diagnosis, from the time you were 3 months old and we met with our genetist at Primary Children's Medical Center in Salt Lake City was called Primary Autosomal Recessive Microcephaly (since then, I see it written in journals as Autosomal Recessive Primary Microcephaly. I'm not sure if the order of all those words really matters or not.) We were told at that time that there were no genetic tests yet for MCPH (an acronym for the true scientific name). So, we went off of the expertise of this doctor -- Dr. Susan Lewin. It was convincing enough.

Last year, while we were in Spokane, your pediatrician, Dr. Olson, strongly encouraged us to do some genetic testing. Sidenote: I loved Dr. Olson. He was a great great doctor who also happened to be the chair of the special needs unit at Sacred Heart Children's Hospital. I miss him. Anyway, he informed me that Spokane had access to some intricate testing that is only available in certain areas of the country, and we needed to pursue that. So, we did. We met with a geneticist there in Spokane, who, after reviewing your file, concluded that you did have MCPH and there was no testing available. Off we went.

At that point, I was content. I didn't feel like I necessarily needed a genetic test to confirm your diagnosis. But, I did always feel a desire to find out more and to pursue something. Last year, as I was doing some internet research, I discovered that there now was a genetic test for MCPH. It wasn't 100% because currently only 7 genes were identified, and they believe there are maybe 2 more. And, the test cost about $5,000. Yikes. Your dad and I talked about it, and decided that this was something that we may want to do in the future. This time, though, I wanted to get the test done because, surprisingly, you didn't seem to match the common MCPH profile. I was shocked. Sure, you matched up with a few...and in all the research I had done previously, you had only matched up partially -- but I blindly accepted that as "all kids are different" and I just trusted the unofficial "official" diagnosis. But this time, certain parts of the profile listed on this testing information didn't match up and it caused me to consider that you may not have MCPH.

When we moved to San Jose, your physical therapist, Kathy, had something written on her report that shocked me. It was stated that you had Seckel Syndrome. I had never heard of that before. She said that the doctor had that on your file. What? No one had ever told me that -- which was disturbing as I pride myself on knowing your files inside out. I'm usually on top of all this stuff. On Tuesday, your school nurse called me. I told Elva about Seckel Syndrome, and she came prepared to your IEP the next day.

"Jenny, I looked up Seckel Syndrome and printed this information off for you. This describes Sammy perfectly to me."

After getting home and reading it, I have to agree. I really think your microcephaly is secondary to your Seckel Syndrome. And now, I'm very antsy to get a genetic test done.
Here goes:

* Extremely rare "Between 1960 and 1999, fewer than 60 cases were reported"
* Low Birth Weight
* Very small head
* Mental retardatin
* Facial features
~ Beak-like protrusion of the nose
~ large eyes
~ narrow face
~ low ears
~ small jaw
* Abornomalities of bones in arms and legs (we've never checked, but based on certain therapies we are doing because of your hips, etc, I wouldn't be surprised if this was the case sweetie)
* Growth delay
* Hyperactive and easily distracted
* Prenatal cranial abnormalities and growth delays
* Seizures

...and there's more, but I grow weary of typing this all up.

Sammy, you match every single one of the above characteristics -- though I'm not sure if your medically small enough to have this. And, you don't match all the MCPH characteristics -- one of which being seizures. Back when we met with Dr. Lewin, she said that you woulnd' thave seizures. When you started to at 7 months, I told everyone that you were supposed to be having them...something didn't make sense to me. That's why I believed your seizures weren't so much from your microcephaly but from something else. I don't know. It just didn't settle right with me. Now I know...or have a clearer understanding that you may really have the wrong diagnosis.

So there you have it Sammy; you may be a primordial dwarf. Do you know how many people have asked me that and I've said "no" simply because I assumed the geneticists were correct? Boy do I feel silly now. You are already a little larger than most primordial dwarfs, but you are far smaller than your age says you should be. Everyone who has seen Kennedy on TLC thinks they have you figured out. I just don't know. But, I promise you we'll find out so that if you do have dwarfism, we can be aware of everything and make sure your bones stay healthy and strong.

I love you sweetheart. I love you so much. My heart just overflows with love when I think of you and how proud I am of you. You are incredible and I just adore you.



  1. Thanks for coming to my blog! I love to make new friends in similar situations. Are you going to the Micro convention in June? I am so excited, it was a lot of fun last year.

    Your daughter is adorable. My daughter doesn't have a diagnosis either. It is frustrating, but it doesn't matter too much in the end. :)

  2. Wow, That is so amazing! You are such a great Mom Jenny. You take so much time in trying to figure everything out about your daughter! I love your little blog for her. I actually saw that little Kennedy girl on TLC and thought of Sammy right away. I am anxious to know what the genetic test turns out like if you get it done.



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