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Tom's Medical Info

Tom is presently almost two and a half years of age. By size, he is a slightly chubby little boy who appears to be about 10 months old.
Tom has thumbs that are slightly lower on his hands than would be standard, ears that are low set and rotated back slightly, a deep sacral dimple, a high arch palate, and while his teeth appear normal, they are coming in very crookedly.
My son also has dysmorphic facial features. His eyes are slightly wide set and the bridge of his nose is quite low. His forehead bulges a bit. All of these features are extremely subtle. I have never seen anyone question Tom in any way until his age comes up in conversation. I do see the differences in his features - but it is only apparent to medical personnel at this time. I hope for Tom's sake that this remains so.
At six months, Tom showed weakness on his right side - but he has overcome this problem. He has been extremely tactally sensitive, but this has improved with time as well.
Tom is now a relatively healthy little boy. He is rarely ill other than constant sinus infections and requires no medications. He tolerates baby food well as long as the foods contain no gluten products. We tried introducing textured foods. He does not like un pureed food - and will not accept it, refusing to eat.

Tom's mental state is rather mysterious at this time. Manual dexterity scores are quite low - but nobody seems to belive this is due to severe mental retardation. Tom's ability to communicate is that of a six month old - but his ability to understand communication is that of a 12 month old.

Tom became very ill after receiving immunizations (Which I now suspect was a coincidence). He was very cranky and ran a low fever after being immunized. When he seemed to be feeling better we saw an alarming loss of physical and verbal ability. Tom had regressed, loosing over six months of physical therapy. He has now surpassed where he was prior to this regression physically, but his verbal skills have not yet met his former speech or comprehension abilities.

Tom is able to commando crawl, can get into and out of a sitting position, and is attempting to pull up - he only get's to a kneeling position but is working hard at getting his feet under him. After many months of refusing to be held, he will now crawl to family members and gesture to be picked up. We are enjoying this new cuddly baby very much!
Tom has an unusually cheerful demeanor (lucky me!). He is always smiling and is very easy going. He is very curious about his surroundings and adores people, especially his brothers - but he also takes an interest in strangers.

Thomas has limited interest in toys. He has a few objects he enjoys, but does not take to new objects with interest and refuses to hold a toy placed in his hand unless he is already familiar with it. He only chooses toys made of hard plastic and prefers objects with no texture. Other than Tom's pacifier (which he shows endless fascination with) and his hands, Tom will never put an object in his mouth. He objects strenuously if you try to place an object in his mouth - but after months of coaxing he will allow me to put a finger in to rub his gums.
I am updating this information as of 08/31/2002. Tom's geneticist suspected Angelman's syndrome and ordered a more detailed test than the basic FISH test - but all I got out of the test was a negative result and one big bill. Oh well, what can you do?

Test Results Please bear with me yet again. Tom has had so many tests I am not quite sure how to group them. Just humor me for the time being, ok? I have presently chosen to start with the most recent test results and work my way backward. As some of the test sequences are long spans of time (such as his stay in the Intensive Care Unit)please keep in mind that I am recording tests in order done - but listing most recent procedures first.
My son formerly received care from a group called CCS and I am not including those records in this data. Tom quickly grew to hate the therapy and refused to participate in any kind of testing, so I do not feel their clinical results are accurate. He also received therapy from another organization and I do include those findings.

05/20/2002 - Genetics

  • Skeletal Survey - (x rays, in otherwords)show asymentric development of the lower thoracic vertebral bodies - left side smaller than right, with failure of fusion of posterior elements T2 through T9.
  • Skeletal Survey - (x rays, in otherwords)show general osteopenia. It is suggested that both problem above and osteopenia are based on Tom's lack of movement - but as a frequent observer of me boy, I don't think that's the problem. While not crawling, he wiggles his way in circles and can sit for hours - moving, bending, reaching, stretching with no discomfort.
  • Liver function tests - normal.
  • Angelman synrome test - negative (not FISH test - more concise).

03/15/2002 - Endochronology
No tests - continued slow growth, follows growth curve but way under 0%. Head circumference unchanged in last six months.

04/26/2001 - Neurologist

  • Tested for Rubenstein-Taybe syndrome - negative.

PICU History - 10/18/2000
At three weeks of age, Tom was readmitted to the hospital. Though he had no more incidents of apnea, he had diahria leading to weight loss severe enough to cause him to be readmitted to the pediatric wing of the hospital. I had complained repeatedly that while the infant's apnia moniter never when off, his bradicardia moniter did frequently. I was always told to ignore it, and was told that the moniters were not very reliable to begin with.
After my son was admitted to pediatrics I explained that he was monitered at home for apnia so the nurses put him on a moniter for his hospital stay. I was the only person there who was not surprised as he set off the bradicardia moniter over and over his fist night. Tom was moved to Pediatric Intensive Care first thing the next morning.
Never ignore moniter warnings, as much as people try to put you off. Everyone assumed that since my son was monitered for apnia, the bradicardia alarms were meaningless. I may have come very close to learning what it feels like to be the mother of a baby whop had died of crib death.
I later observed my son's heart rate dropping as low as 28 BPM when the norm for an infant is around 128 BPM. Sorry to blab in the middle of the medical stuff - but I just can't emphasize this issue enough.

  • Severe Gastroesophageal refux (really bad heartburn, for those who choose english terms).
  • Blood test white counts - all over the place. Up one day, down the next - left the docs in a quandry.
  • received gastroesophageal surgury - nissen fundal plication and gastronomy
    • Cardiothymic silhouette in upper limits of normal.

    NICU History - 09/29/2000 Tom was admitted to the NICU because of hypotonia, hypoxemia, and resperatory distress.
    Initial hospital records indicate that Tom was considered small for dates as of week 35 of gestational period. I was not informed of this during my pregnancy.

    Tom's apgar scores were six at one minute and six at five minutes (ten being optimal).
    Umbilical arterial and veinous catheters were placed, and the baby required 100% oxygen to maintain an oxygen level of 70 - 80% (I generally have 98% or above and am athsamtic - so not great).

    • Chest x ray - clear lung fields.
    • No metabolic abberations
    • Coombs negative.
    • Jaundice - none.
    • Blood count - normal.
    • Chromasonal - normal 46 XY karyotype.
    • EEG - normal - (later tests show EEG abnormal).
    • MRI Scan - results listed as 'essentially within normal limits'. This implies to me that there was a small deviation found but nothing in Tom's records indicates what the problem would be.
    • Metabolic screening (again) - ammonia was high, lactic acid and lactate were slightly above the normal range.
    • Prenatal Testing I requested my files after it became clear my son had some kind of genetoic anomaly. I hoped to find some indication of trouble previous to birth.

      • Repeated kick count tests requested after high amnoitic fluid amount found. Kick count normal, heartbeat normal.
      • Amnoicentesis - results normal. Please bear in mind that I never even had an amniocentesis. Many of Tom's initial medical records depended on the results of a test I never had so Please review youtr records carefully.
      • At 17 weeks I experienced mild cramping and spotting. My obstatrician ordered me to bed for bedrest. I continued to bleed vaginally - very lightly for three days. for several days
      • I am unable to discern many of the records regarding my repreated ultrasound exams - but it is apparent by charts included that the baby remained in normal areas for growth and amniotic fluid levels, though started in mid-range and dropped gradually to the lowest points of what would be considered normal levels. After I begin medical classes in persuit of my RN degree I hope to be able to decipher more of the information.

        I did take all basic pregnancy tests (blood and urine) requested in the US - and there were no anomalies as far as I know. None of those test results were included in the paperwork - I have no idea why but have no reason to suspect anything more than simple error.