6/13/11 – Adenoidectomy – duPont – Dr. Barth – blood drawn for carnitine test, waiting for results – will take a week or two.

6/9/11 – Went back to lab at Hershey to redo blood test since wrong test was done (Creatinine instead of Carnitine), but could not find a vein – said to ask them to draw blood during surgery on 6/13

6/2/11 Dr.  Gottlieb and Pre-Surgery Appt. (blood tests for anesthesia))

5/31/11 – Blood test for Carnitine Level – Hershey

5/12/11 Dietician and CPAP Fitting Appointments – see blog for updates on appointments

5/9/11 – Dr. Barth ENT – Newtown Square – he will be performing adnoidectomy – scheduled for June 13th.

5/3/11 – Appt. with Dr. Nino – discussed Sleep Apnea and course of action

5/2/11 – Because she is still having seizures, Gottlieb raised night dosage of Levetiracetam/Keppra to 1ml at night – staying with .5ml in morning.

4/29/11 – Pittsburgh Trip

4/6/11 – Sleep Study at Hershey

3/31/11 – Medication changed to levetiracetam/Keppra…

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3/29/11 – Siena saw Dr. Gottlieb this morning for the “seizures” she has been having.  The diagnosis is Complex Partial Epilepsy/Seizures.  I found a good link to describe this http://www.bbbautism.com/complex_partial_seizures.htm.  He gave her a prescription for Trileptal which will hopefully control the seizures, if it does not, then he he suggesting a 24-hour Ambulatory EEG – http://www.epilepsy.com/epilepsy/eeg_ambulatory.  He will see her back May 2nd.

3/26/11 – Seizure episode this morning with Grandma Becky and Aunt Renee – happened after waking up, right before food – pupils got small again… happened for a few minutes.

3/26/11 – Sleep Study schedule for April 6th 7pm… yes, on my birthday – BOO!  Since I AM going to Florida the following week for 10 days, I will overlook this scheduling conflict. : )

3/23/11 – scheduled appt. with Prader-Will Clinic 4/29 2pm – will be an hour long evaluation appointment with Dr. Smith

3/23/11 – 12:30pm “daze/sleep episode”   – happened while getting ready to eat lunch for about 5-10 minutes – she had just woken up from nap – her pupils got very tiny right before and as it was happening – then got bigger as she came out of it.  Gottlieb wants to see her next Tuesday – March 29th…

3/22/11 – If you have wondered why we love Dr. Gottlieb (neurologist) so much, you may now understand….he PERSONALLY called at 8:30 TONIGHT to tell us the results from Siena’s EEG….

During the EEG there were no seizures, but signs that there could be seizures.  We need to monitor her very closely for the next week and keep track of when/if she has her dazing spells.  If one a day or more Gottlieb wants to see her back before our scheduled appt. which is now set for April 29th.

3/22/11 – Siena was not fond of the EEG today – it was hard to keep all the wires on her – all 24 of them!  Dr. Gottlieb is to read and let us know the results.

3/21/11 – Orthopedic surgeon does not need to see Siena right now.  They would like her to have another x-ray in 6 months and another 6 months after that.  Check for Scoliosis in 3-4 years.

3/18/11 – Susan Sells (Genetics Counselor) called Prader -Willi Clinic in Pittsburgh to see why there had not been a response – it seems the woman taken admissions has been out for a couple weeks – so after her second call someone called her back.  Dr. Smith at Clinic makes decision on when to see patient – determines if there is value in seeing a patient this young – we are waiting to hear from him. Our main concerns are what we can do to help Adrenal Glands and when we should start Growth Hormone.  Susan has encouraged us to call the PA support contacts while we are waiting to hear from PWS Clinic.

Dr. Telford -Wren is following up with an Orthopedic Doc to see if there is anything we should do about the under-developed bone.  She reported that thyroid tests were done during Genetic Testing and they came back normal.  She is also wondering how often we should be doing these checks on Siena’s bone development, something she felt Clinic might help answer.  She is also wanting to know from the clinic about ophthalmology, as eye-sight can be effected with Prader-Willi.

3/18/11 – VERY good news, the leg bone is not popping out of her hip.  There is underdevelopment of the bone on both sides, so we will wait to hear from Telford-Wren on if anything needs to be done for this.  It could be due to Prader-Willi and/or a thyroid issue.

3/17/11 – Spoke to Dr. Chang, he does not see the immediate need to schedule an appointment with him, however when we see him in November for her yearly visit, he will do more of a check for vascular ring.  He said that even if we found a vascular ring, he is not sure they would do surgery anyway – especially if there aren’t any symptoms.  IF WE HEAR MORE ON THIS IN PITTSBURGH WE SHOULD LET HIM KNOW, AND IF HE GETS A DIFFERENT OPINION FROM DR. LADDA HE WILL LET US KNOW.

3/17/11 – Spoke to Telford-Wren – the reason we are getting an ultrasound of Siena’s hips is because there is underdevelopment at the top of her femur bone on both sides….one side more than the other.  because of this it may be popping out of the hip.  Hip Dysplasia is common with Prader-Willi, so it is very important to act on this now if that is the case.

3/16 – Dr. Chang’s (Cardiologist) Office called today to schedule CT Scan for Siena – apparently Dr. Graff (Pulmonologist) requested this…. after discussing with scheduler, she had a conversation with Dr. Graff and he said not to schedule CT Scan but that she should see Dr. Chang again because of the possibility of Vascular Ring.  I told her we had taken Siena to Dupont and now everyone is confused…. Dr. Chang will be calling us directly to discuss.

3/16/11 – have not yet spoke to Telford-Wren, but her office called and scheduled the hip ultrasound for Friday 3/18/11 @ 11am at Hershey Medical Center.

3/15/11 – Dr. Telford-Wren left a message saying Siena needs to have ultrasound of hips – did not get to speak to her – she said she would try to call back on Wednesday, but she wouldn’t be back in the office until Thursday.

3/15/11 – OT – Deb Zeigler

Deb thinks Siena is going to be crawling very soon!

3/14/11 – Scheduled EEG for next Wednesday 10:30am – Lancaster Health Campus

3/14/11 – We took Siena for hip x-ray on Hope Drive – across from Karns.

3/14 – Siena had her one-year Wellness Check.

13 lbs 4 oz – 24 inches

She had three vaccinations and they did a finger prick to test for Anemia and Lead Levels since we live in a home over 100 years old.

Dr. Telford -Wren accepted responsibility for being the point person for all of Siena’s Doctors.

She had spoken directly to both Dr. Ladda (Geneticist) and Dr. Gottlieb (neurologist).

I mentioned to her about the hip asymmetry that Dr. Ladda had pointed out and after examining Siena she wanted us to take Siena to have her hips x-rayed.

3/11/11 – Parents and Grandparents met with Dr. Ladda and Susan (Genetics Counselor) to discuss the Genetics Results and what the next steps will be.  We are waiting to hear more results of testing – mainly if there is a Duplication of the Maternal Chromosome 15 or if the Paternal Chromosome 15 is non-functional.  These results will let us know if this could be genetically inherited by future children we may have or Isla or Siena may have.  We are now waiting to hear about going to the clinic in Pittsburgh.

3/10 – Dr. Ladda called to report that Siena’s Genetic Testing results were positive for Prader-Willi.

The FISH test done while Siena was in NICU did not find this because the FISH test is to find Deletions on Chromosomes.

3/8/11 – Pediatric Feeding Clinic Appointment – Andrea Abbe – Dietician

Deb Zeigler went with Jamie to this appointment

The Dietitian and the Speech Therapist watched her eat – Speech said she didn’t think she needed to follow Siena.  Dietitian wants to see her back May 6th.

PLAN: switch from formula to whole milk/Pediasure mixture (half and half mixture), try adding a 4th solid food feeding into her day – add up to 1 tbsp./day of olive oil or butter to her food  give her as much table food as possible

3/7/11 – Early Intervention Evaluation with Deb and coordinator, Mandy Kolb

decided to add OT (Deb) every week and PT every other week

3/2/11 – Dr. Ladda 1st Appointment – ( Jamie & Andy) talked about Russell-Silver Syndrome, Prader-Willi

he ordered several tests: genetic, metabolic, etc.

They could not take blood from Siena’s arm so they had to take it from her foot.

3/1/11 – Sent videos to Dr. Gottlieb. Spoke with him and he would like for Siena to have an EEG, although he does not think it is seizures.

2/23/11- Cardiologist Dupont – Dr. Takeshi Tsuda

He was actually the doctor that read Siena’s first Echo that was done when she was in the NICU.  He thinks Siena’s heart is perfect. Does not think videos we showed him of Siena falling asleep while eating/playing have anything to do with her heart.

His Report:  Siena is clinically well with normal cardiac status.  Her previous echocardiogram at Lancaster General showed normal cardiac anatomy and function with no evidence of heart disease.  Her clinical presentation is normal and I do not hear a heart murmur, suggesting that her heart murmur is functional in origin and does not require specific treatment.  She should be treated as a normal infant from cardiac standpoint and she may not require further cardiology follow up as far as she remains stable.

2/23/11 – ENT Dupont – Dr. Patrick Barth ( Jamie & Andy)  We liked this doctor a lot – especially after our experience with Dr. Shapiro – the ENT in Hershey.

He said we are giving Siena excellent care and that eventually she will probably need her adenoids removed, but for now to continue Nasonex.  Dr. Barth highly recommends a Sleep Study to make sure Siena isn’t losing oxygen while sleeping – said we can do this in Dupont or Hershey.  He referred us to Cardiology, saying as long as we were getting second opinions we might as well see a Cardiologist at Dupont too.

2/16/11 – Dr. Meyers office called to cancel appointment that was set up for the 18th – saying Dr. Graff did not think it was necessary.

2/15/11 – Phone meeting with Dr. Pizarro – Cardiothoracic Surgeon at Dupont – had phone consult with him to discuss whether he felt it would be necessary for Siena to see Cardiothoracic Surgeon… He did not think it was significant at this point.

2/11/11 – Dr. Graff – Pulmonolgist – Hershey (Jamie & Andy)  We were referred to Dr. Graff by Dr. Meyers ( who was referred by Shapiro)

Dr. Graff does not think Siena has vascular ring.  Gave Siena prescription for Nasonex. Suggested we see Genetics at Hershey because we might get in sooner than we could in Dupont.

January/February 2011 – We had a very hard time getting exact information from Shapiro and his office – we were told that he may want us to see a Cardiothoracic Surgeon – Dr. Meyers – but it wasn’t until February that this was actually acted on… Dr. Meyers wanted us to first see Cardiology (Dr. Chang) which we had already done in November, so he had us see Dr. Graff – Pulmonologist.

In the meantime Dr. Gottlieb (Neurologist) joined with Dupont/Nemours and referred us to ENT, Genetics, Feeding there.

11/19/10 -Fluoroscopy and Barium Swallow (Andy)

Airway Fluoroscopy – Normal airway. No laryngomalacia or tracheomalacia.

Barium Swallow – slight posterior indentation of the upper esophagus, consistent with an aberrant right subclavan artery. Duodendum is slightly redundant with the location of ligament of Treitz noted in the left upper quadrant, at the level of a left sided pedicle.

For further assessment,  a delayed 1-hour radiograph was obtained which showed the cecum in nomral location.  No Gastroesophageal reflux identified, however there were several episodes of low level, moderate volume spontaneous reflux after consuming approx. 1 oz during evaluation of duodenum.

11/16/10 – Dr. Shapiro – ENT – Hershey (Andy & Susan)  did nasal probe – ordered barium swallow, gave sample of Nasonex

11/5/10 – Children’s Heart Group – Dr.Chang – Hershey ( Jamie & Andy)

EKG and ECHO performed

Noted to have trivial to perhaps mild pulmonary valve versus supravalve stenosis with a peak velocity across this area of approximately 2 meters per second.  There was mild dilationof the mean pulmonary artery noted.

Murmur called a Stills Murmur.

10/30/10 – Hershey Emergency Room visit – shortness of breath – wheezing ( Jamie & Andy)

Chest X-ray – The lungs are midly hyperinflated. The cardiothymic silhouette is within normal limits. Pulmonary vasculature is normal.  There is prominence of the central interstitial markings with peribronchial cuffing, best appreciated in the right hilar region suggesting viral or reactive airways disease.  No focal consolidation, pleural effusion or pneumothorax.  The visualized bones are normal.

Blood tests were done because of her low temperature.   Sent home with Prednisone and told to continue Albuterol.

10/28/10 – seen by Dr. Carlson for Bronchilitus and ear infection – given Nebulizer and Zithromax

10/21/10 – flu shot- first dose

10/4/10 – Siena’s first visit with Dr. Telford-Wren – visit was because Siena had fever, ear infection and conjunctivitis in both eyes.Given Augmentin. Siena did get a diaper rash from the medicine.

9/29/10 – Fishburn Chest X-ray ordered by Dr. Iriana because of crackling

Findings:The lungs are hypoinflated accentuating the normal cardiothymic silhouette. Aortic arch is left-sided.  There is mild pulmonary vascular crowding.  Otherwise the lngs are clear.  There is no focal infiltrate, effusion or pneomothorax.  There is no pulmonary edema.

8/30/10 – MRI – ordered by Dr. Iriana by suggestion of Dr. Gottlieb ( Jamie & Andy)

Finding : The gray and white matter is of normal signal intensity with no focal lesion.  No mass, mass effect, edema or calcification as seen.  The white matter myelination is normal for age.  There is no evidence of volume loss or migrational abnormality.  The ventricles and extra-axial spaces are normal.  The Pituitary gland and optic nerves are normal.  The intracranial blood vessels are normal.  Essentially normal MRI of the brain.  If there are persistent clinical concerns, a follow-up MRI in 12-18 months is advised to assess for progression of myelination.