Monday, November 5, 2012

Chromosome 3p Deletion Syndrome

3p deletion syndrome is a rare chromosome disorder characterized by the deletion of part of the short arm of chromosome 3 (3p).

  • 2vsd

  • asd

  • pda

  • enlarged left chamber

  • Hips

  • Feet turned in

  • Low muscle tone

  • hyper flexed toes

  • clenched fist

  • lacks muscle control

Developmental Delay
  • Sensory issue

  • Feeding issues

  • Non -Verbal

  • Ear infections

  • Hearing Loss

  • Visual Tracking issues

  • Far Sighted

De Novo Interstitial Deletion on the short arm of chromosome 3 ( 3p.25.3p25.2)

Rozy Kate is currently in therapy 6 sessions a week including pt/ot/and speech.

She also currently takes medication to control absent, partial, and cluster seizures.

She recently had tubes placed in her ears, and is scheduled to retake her hearing test next month.

Chromosome Disorder Outreach
Office of Rare Disease Reseach (ORDR)

After a very stressful , sickly pregnancy my husband Jason and I welcomed Rozlynn Kathleen into the world in June 2011, weighting 7lbs , 2 oz. Other than a light case of jaundice and a fluctuating blood sugar Rozy Kate was perfectly healthy for the first week of her life.

At our one week check up her pediatrician listened to her chest for almost 20 minutes, revealing nothing he sent us away and told us he wanted to see us back in a week. A week later we found out the the doctor believed she had a hole in her heart. We were immediately sent to the hospital for x -rays , and an echo cardiogram. We were sent 3 hours away to discuss the findings.

On July (1month old) our wonderful cardiologist confirmed our worst fears our perfect baby had three small holes in her heart. We were told surgery was not necessary at the time but could become necessary in the near future.

Upon returning to our regular pediatrician we were faced with the fact that her legs and hips were not developing properly. Once again we made a trip to Xray, and ultrasound to rule out hip dysplaysia. Following the same procedure as before the results were sent to St. Louis , and the reading were of concern. So at 5 months we made our 2nd trip to St. Louis.

In December,Rozy was placed in a hip abduction brace to try and fix the hips. She did not have dysplasia but the hips were out of sync causing the feet to turn in. In December (3rd trip) 2 of her holes had closed, but she had developed a pda and the left chamber was enlarged.

In April (trip 4) her hips have realigned to a more acceptable degree, however , they thought that she possibly had sustained a brachio plexus injury resulting in erbs palsy.

May(Trip 5) After noticing an increase in Rozy unresponsive states over a few weeks we rushed her to the ER for our first and scariest hospital stay. She was diagnosed with epilepsy; suffering from partial and cluster seizures. We were put on Trileptal.

During our 72 hour we were told that it was possible that she had suffered a stroke in utero, or during birth. When that was a negative, they told us that her brain was not constructed correctly, when that to proved to not be the case they told us that she possibly had a fatal mitochondrial disease and that this was the beginning of our down hill slide.Blood work was sent for mitochondrial test and chromosome testing.

Before we would get our results Rozy Kate was readmitted to the hospital for viral ataxia (she is very prone to viral infections.)

A month later we received the news that she appeared to have a Unipaternal disomy on chromosome 15 and had Angelman Syndrome or Prader Willi. On August 1 , 2012 we got the results.... Our daughter had neither syndrome (it was a misread on her test) and that our actual diagnosis was Chromosome 3p deletion syndrome. We were led to believe that she was 1 of 45 in the world. This month we found out that though she is one of 45 she is the only living child with her exact deletion and her future is unknown. She is the most delightful, stubborn, little princess we could ask for. Although, we do not know our long term prognosis, we do know that she is a warrior and so far is conquering everything that has been thrown at her.

So our Journey Begins....................

Contributed by MOM Krystal Dover - to follow Rozy's story check out her Facebook page