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The Gregory-Arritola Family

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T13 Medical History

3 weeks old
contemplating_first_real_bath.jpg
NG Tube in nose and sixth dangling digit

 

For those of you who want MORE MEDICAL DETAILS on the specific Trisomy 13 medical issues Anthony has encountered since birth, I have summarized our entire medical journey below with the latest updates as of 7/11/06, one year after his birth and days after his death.  It is important to note that despite all these anomalies, Anthony lived a happy life at home with his parents and it wasn’t until he was 9 months old that he had to receive emergency surgery that led to complications in healing ... leading to the latest impediments to his life. 

 

(This section of our site is the oldest portion and was written over many months and with many updates so please be forgiving as some text is written in present tense, future tense and sometimes past tense.  I hope in time to clean up this portion of our site to read more grammatically correct in the future)

 

CARDIAC/PULMONARY:

Anthony has two holes in his heart that were not evident in utereo but became apparent after birth when blood pressures change from mom to baby. He has a hole between his left and right atrium (ASD) and a large hole between his left and right ventricle (VSD).  I was shocked to learn how common this is in the general population (even without a Trisomy).  In Anthony’s case, oxygenated blood shunts over to the un-oxygenated side and goes to the lungs again … causing a decrease in oxygenated blood to his body and a congestion of fluids on one side of the heart.

 

The VSD was 7 mm at birth.  This is considered a very large VSD measuring about two thirds of his heart.  The right side of the heart also shows severe congestion (with blood) and stretched almost twice as big as his left half – thus stretching the 7mm hole to about 12 mm.  He has been on medicines to help manage congestive heart failure (CHF) – mostly to keep him comfortable as he is not a candidate for surgical repair. We were told, “without surgical repair, it is not expected for this defect to heal on its own”.  If left untreated, this CHF will lead to eventual heart failure - as doctors can’t be specific but say sometime between birth and maybe up to four +/- years.  I am pleased to say that while Anthony’s holes are not healing, currently (Month 8) they appear to be smaller in proportion to his overall heart size and miraculously achieve blood flow against the scientific nature of this situation. 

 

Anthony has also had a few episodes involving arrhythmia  beating as high as 280 bpm (beats per minute) and as low as 20 bpm.  These usually only last a few moments and return back to normal.  Anthony's heart has also shown signs of tricuspid insufficiency. Since birth, he has shown signs of Pulmonary Stenosis which, in a way, was the saving grace to his heart condition by keeping the lungs from being flooded with blood and causing lung disease.  However, with long term pressure continuing for six months, as we learned in January 2006, the Pulmonary Stenosis has led to Pulmonary Hypertension.  Again, he is on medications that keep these issues at bay.

 

Anthony drop his Oxygen saturations from time to time with the high stress "medically needy" episodes.  At about 6 months old, it mostly only occurs during a time of a seizure that he will go into hypoxia but he has had a few unknown exceptions.  Since he quits breathing during a seizure, it is only reasonable to understand that he will be responsive to Oxygen once he begins breathing again.  However, in the past there have been times when Anthony was not responsive to Oxygen during a hypoxic episode.  We were told that when he is responsive to Oxygen, it is a lung function but when he is unresponsive, it is most likely his congestive heart failure.  Today, we have come to see this hypoxia as a normal T13 issue that we handle with intermittent usage of Oxygen to keep his saturation levels up.   

 

In relation to Hypoxia, his oxygen levels have mostly gone down intermittently to the low 70's or 60's with two serious instances going into the low 40's and 50's.  He stayed this way for less than two minutes except for Christmas day where he stayed at 47% for about 15 minutes and was not responsive to Oxygen.  He was checked for a respiratory infection on that day.  Additionally, he has had about three major seizures that have brought his O2 down to 19, 4, and 0% Oximetry. 

 

Thankfully, our pediatrician prescribed Oxygen within the first month of his life and it has allowed us to keep his blood Oxygen levels up when he has had an episode at home or when we are out.  This has prevented Anthony from an earlier brain death or multi-organ failure and is probably why he doing so well at this age. 

 

We thought he may have also had obstructive sleep apnea as moving him in his sleep relieved hypoxic symptoms.  Working on increasing his muscle tone has helped this issue.  When awake, I'm not sure what it is - perhaps mild seizure activity or reflux.  We continue to monitor him on a Pulse Ox Monitor so we can gather symptomatic data and investigate how best to keep him comfortable and out of oxygen deprivation danger.  We have learned that any stress can cause him to stop absorbing Oxygen. 

 

 

We researched the criterion necessary for Anthony to be eligible for surgery (in case of necessity).  Unfortunately, the Typical Trisomy 13 child is such a high mortality risks and surgery increases the probability for morbidity.  More pointedly, Anthony's hypoxia episodes warrant serious consideration as he miraculously achieves absorption without a reason as to how and why.  That said; please keep all Trisomy 13 children in your prayers asking for Gods guidance for their medical care.


 

DIGESTIVE:

Anthony was fed through a NG tube for the first two and a half months of his life.  Initially, at birth, he had problems gaining weight.  He often tried to pull the tube out (as if he is trying to tell us something) so we kept working with him on bottle feedings.  We started with one feeding a day when he was two months old and tried to work up to two feedings per day but because of his heart condition, he would get exhausted when he fed.  We would finish his feedings using the tube to keep him well nourished and strong.  

 

By October (3 months old) he fed regularly by bottle and continued to get stronger with each feeding until two inguinal hernias appeared.  The inguinal hernias eventually became dormant and his feedings increased slowly as he grew slowly.

 

As of January (6 months old) we learned that Anthony’s low muscle tone was making it hard for him to have bowel movements.  Additionally, as his body was growing but his body wasn’t receiving enough caloric intake to help him overcome ketosis (putting him into a nausea mode).  He began to have difficulties keeping small amounts of food down and was only taking 60 ml (2 oz.) every three hours.  Most babies this age who are taking 8-16 ounces at a time but we tried everything and at one point this past January he was throwing up bile for about 36 hours.  Our GI specialist put him on a caloric booster to give him extra calories which helped him with the energy he needed for his physical therapy and in turn helped his muscle tone get stronger.  Additionally, he was prescribed a weak laxative to help minimize stress to his digestive system.  This was just the prescription we needed for a happier, healthy and growing baby. 

 

Upon seeing the GI doctor, Anthony's critical feeding issues from January were resolved; giving him just what he needed to eat, grow and thrive.  Hence, a growth spurt began shortly after this January visit.  Once again, Anthony began to enjoy the time he spent feeding.  And he especially loves to be cuddled and of course, a full tummy and the taste of Oatmeal.  We have tried some baby foods and are still working on his swallow reflex from a spoon.  That said, the tube is on standby or used only when he shows signs of exhaustion from his congestive heart failure, if he weakens or loses weight (or any other medical reason).  

 

But again in April, at nine months old, Anthony begins to have issues with not increasing his nutritional intake for his growth.  Further, complications with NG feedings are developing as Anthony loves to pull his tube out while the dosage is being delivered, causing issues with aspiration.  We opt to have a permanent G-tube placed to help us with this potentially longer term issue.  

 

On May 5, 2006, Anthony had a Fundoplication, to alleviate his hiatal hernia and minimize reflux that has been causing him to lose vital nutrients over the past months.  This is a vital step in helping Anthony staying well nourished.  Additionally, a G-tube was placed to ensure feeding difficulties would no longer be as big a daily problem and making his daily feeding care more efficient from the NG tube that placed through his nose.  We plan to still work on oral feedings but when Anthony is having difficulties with his Congestive Heart Failure or other issues, we can ensure he gets proper nutrition and hydration via his G-tube.  

 

(May 7, 2006) Two days after Anthony’s scheduled surgeries for his eye and G-tube, we were back into emergency surgery to find the culprit for a distended belly.  What the surgeons found was a surprise.  While it was air passing through an open wound in the stomach from Anthony swallowing air that caused the distended belly, the surgeons happened upon a life threatening congenital anomaly called Meckel's Diverticulum.  Additionally, the diverticulum had banded around his intestine, twisting it and cutting off the blood flow, a secum volvulus.  Surgeons unwrapped the bowel hoping it would pink up but ultimately had to remove the incarcerated bowel as it had died. 

 

Approximately 40% of Anthony's secum (right side large intestine) along with the last 3-4 inches of his small intestine was removed.  He was set up with a temporary ileostomy until the tissues can heal.  Reconnection of his bowels will require additional surgery in a few months provided healing is effective.  The distention of his belly caused damage to the G-tube placement site from two days earlier and the G-tube was removed, stiched up and relocated to another site. 

We are thankful these serious life threatening discoveries were made while we were in the hospital.  This latest surgical discovery does explain a lot as to why he has had problems with constipation, vomiting and the other issues with trying to keep him fed.  In the past, we had looked for a malrotation but everything appeared normal ... who knew to look for a volvulus? 

(May 11-16, 2006) As recovery continued, Anthony's once dormant inguinal hernias resurfaced, causing problematic issues with his already stressed out digestive tract.  We were given a tough choice to send him back to the Operating Room (OR) versus living with a life threatening risk of another incarceration.  IF we choose the latter, we would only be back in the OR should it become emergent (and incarcerated). 

 

(May 17, 2006) Because during his recovery, he had incarcerated several times, and the hernia was problematic, we felt we had no other choice than to elect to do surgery while he was well (all things considered) versus him getting sicker.  Anthony came through surgery well and looks great.  

 

Anthony did well in each surgery with no problems from anesthesia, his heart or his breathing.  His digestive tract itself was what causes/caused his recovery to linger and gave him the most difficult time during this last hospitalization and with lingering recovery, more time for complications.

 

 

OPTICAL:

At birth we learned he had cataracts and corneal opacity.  In September (2months old) it was confirmed that Anthony is legally blind.  An ultrasound of each eye detected stalks with the retina wrapped around it.  We were told Anthony could “see light and probably an object moving” but his vision was probably like trying to look at your reflection through a crinkled piece of tin foil.  He seemed amused and it did not seem to bother him as he recognizes familiar people and places by voices, touch and sounds. 

 

In March (8 months old), Anthony was diagnosed with Glaucoma, in a regular follow up visit with his Ophthalmologist.  He was whisked away to be evaluated for surgery and Rick and I were put in the situation, once again, to access whether or not Anthony should go “under the scalpel”.  The pressure in his left eye reached as high as 56 and the pressure is supposed to be under 20.  Since Glaucoma (increased pressure) causes the eye to stretch, get bigger and bulge, it also causes irreversible blindness due to the increased pressure on the optic nerve.  With Anthony already being blind, we had to ask, other than minimizing additional damage to his sight, and draining the eye of pressure, what are the benefits of surgery?  Also, what would happen to the eye pressure if we elected not to do surgery?  The doctors were stumped.  

 

As we sat and waited in the midst of investigating how to best handle this situation and keep Anthony comfortable, we chose to use eye drops but were told due to his severity, surgery is typically the path.  We have been referred to additional specialist at Emory Eye Clinic and they recommended we wait until the pain is apparent or we have another opportunity for a medical intervention.

On May 5, 2006, Anthony's left eye had a congenital retinal stalk removed.  The stalk had developed tendons (for lack of a better word) into his lens, destroying the capacity for his lens to be functional and his lens was removed.  In surgery, by severing the ties to his retina from the stalk, the surgeon was able to allow a significant amount of his retina to return to the normal position.  The surgery into the eye itself relieved the intraocular pressure (Glaucoma).  However, while in the eye, an oblation procedure was done from behind the eye to keep Anthony’s eye from making too much fluid in the future to avoid the painful reoccurrence of Glaucoma that Anthony had been experiencing.

 

Anthony saw his mom and dad for the first time on May 7, 2006 as his eye patch was removed.  His vision in his left eye gradually improved with each day. 

 

 

NEUROLOGICAL:

He was born with a tethered spinal cord.  To give you a visual, a tethered (tied down) spinal cord is similar to a thick rope securing the tail of the spinal cord tightly in place, instead of a thin string holding it loosely in place.  This may cause issues with walking as Anthony grows taller and the pull on his spine is increased.  Normal remedy is a fairly simple, non neurological surgical repair.  However, Anthony is not a candidate for any surgery at this time.     

 

A MRI, done a few days after birth, was used to diagnose many of Anthony's anticipated issues due to his Trisomy 13 genetic anomaly.  The MRI also indicated that Anthony has partial agenesis of the Corpus Callosum which doctors can only speculate will be the cause of mental retardation, although they cannot prove that theory with any medical findings.

 

The first week of November (4 months old) he went into what we thought was his first epileptic seizure.  After an EEG, we learned that Anthony has chronic multi-focal seizure activity in his brain.  We also learned that a common reaction we saw in him, we called it a startle reflex, was actually a myoclonic seizure and he has been having those since birth.  I was shocked to learn how common this is in the general population (even without a Trisomy).  He was put on medication after Thanksgiving and has suffered many seizures since then as we continue to work on a dosage that will minimize his risk. 

 

With all this extra stress to Anthony’s body in January (8 months old), Anthony had three generalized seizures and we again stayed in close contact with his Neurologist.  Anthony was started on a new seizure medicine but unfortunately, it knocked him out all day and night for three days until he was unable to become aware enough to eat!  So we put him on his NG tube, kept him fed and hydrated and weaned him off that particular seizure medicine.  Ironically, during this three day sleeping spell, his arrhythmia ceased and he was breathing 100% on room air with a heart rate of 140 (perfect).  The arrhythmia returned upon weaning him off the medicine leading the doctors and us to consider Anthony's heart rate fluctuation is less due to heart failure and more due to his central nervous system. 

 

Anthony was officially diagnosed with sleep apnea, central apnea and obstructive sleep apnea during his May 2006 hospitalization.  These affect his breathing and sleeping patterns with hypoxic episodes. 

 

Anthony appears to go into respiratory arrest yet it has been confirmed that it is his brain activity that is actually stopping and secondarily his heart rate slows down but does not stop.  It appears he is exhaling, turns blue and drops to 0% oxygen, but these are events occurring after his brain has flat lined.  He has seizure like symptoms in his body but his brain, in hypoxia, has no activity.  After two to three minutes, he gasps for air and all nervous system, respiratory and cardiac functions resume back to normal. 

 


LOW MUSCLE TONE:

Last fall, the second week in October, Anthony all of a sudden displayed bilateral inguinal hernias.  His hernias were causing discomfort and interrupting a good feeding so we provided nutrition through his tube when he appeared to be having a hard time working to eat on his own.  Physical Therapy has helped with is muscle tone and is working to minimize/eradicate the pain associated with it.   A good massage, a warm bath and gentle relaxation therapy has helped to keep the bulge down or go away.  However, when he strains to do a BM, the hernias fill up and pop out again – thus keeping us on a daily routine of massage and warm baths to avoid incarceration.  We researched options for repair to avoid incarceration which would have led to emergency surgery.  But in our investigations, an ultra sound revealed he has two undescended testes making these hernias currently inoperable.  I was shocked to learn how common this is in the general population (even without a Trisomy).  It’s a good thing Anthony enjoys a warm bath!!!

 

At 8 months old, Anthony continues to be limber and not tight with his reflexes.  We play daily trying to exercise his muscles to allow them to develop faster but they are delayed compared to other kids his age.  Anthony can lift his head up and turn from side to side; he can lift his arms, kick his feet and roll over.  He cannot yet sit up or stand unattended.  He does like to play with his fingers in his mouth and sometimes his fist want to clench or tighten but we have always opened them up and stretched them gently back to neutral position to avoid any long term issues.  At first we could only do it when he slept, but now, he opens and closes his hands GREAT!  

 

Anthony has a personal Physical Therapist and soon to be an Occupational Therapist.  He also sees Orthopedists who order x-rays or splints or whatever may be needed for guidance in Therapies.   

 

When Anthony was hospitalized at 9 months and developed complications, he began to show signs of contractions in his shoulders, he continued with physical therapy during this hospitalization and progressed well until he weakened to a state of lethargy in his last days. 

 

 

PREVIOUS ISSUES:

 

RENAL:

He has a renal cyst that is considered to be no big deal and he was diagnosed with renal acidosis at birth.  His levels were monitored/managed to avoid long term kidney disease.  As of the end of January, Anthony is no longer showing signs of Renal Acidosis and is no longer being treated with medication for this issue.  We will monitor his acidosis levels as future lab work opportunities present themselves. 


ADDITIONAL CONGENITAL DEFORMATIES

He was born with an omphalocele which healed beautifully with non surgical care using Silver Sulfadiazine Cream. It took about 6 weeks, but healed without even a trace of having a hernia or an Omphalocele.

 

He was born polydactyly (with a sixth digit on each hand barely dangling by a thread of skin and with no bone inside – see picture below).  He won't be sporting anymore High 6's as these boneless fingerlike appendages were removed in a simple 15 minute procedure.  I was shocked to learn how common this is in the general population (even without a Trisomy). 

 

He was also born with cutis aplasia which is a defect of the scalp where his scalp had not completely finished being developed.  But his scalp healed within hours/days after birth.  He still has a bald spot on his head where his hair is growing in - but we like to say that he just likes to imitate dad!  (not that dads is growing back in!) 

 

SUMMARY OF HOSPITILIZATIONS & SURGICAL INTERVENTIONS:

 

July 8, 2006     - Birthday – Northside Hospital NICU for 8 hours

July 9, 2006     - Transferred to Scottish Rite Children’s Hospital NICU for 2 weeks

30 days Old     - Emergency Room Visit and 2 day stay for Cardiac Arrest Episode

5 Months Old   - Emergency Room Visit and 3 day stay for Severe Hypoxia Episode

9 Months Old   - Elective Surgical Intervention for G-Tube and Eye Surgery

                        - expectation of 3-4 days in hospital with reality of 59 day stay

                           (prayers for our baby boy)

 

Anthony did well in each surgery with no problems from anesthesia, his heart or his breathing.  His digestive tract itself was what causes/caused his recovery to linger and gave him the most difficult time during this last hospitalization and with lingering recovery, more time for complications.

 

                        Issues Complicating Discharge -

                                    -Secretory Diarrhea – 5 days Post Op G-tube.   

                                     Secretory diarrhea occurs when the small and large bowel secrete more electrolytes

                                     and water than they absorb. (a severe form/cause of dehydration)

                                    -Pulmonary Hypertension & Hypoxia – 30 days Post Op

                                    -Central Apnea – 45+ days Post Op – in his last few weeks

-Gram Negative Sepsis – 55 days Post Op - four days before his death.  Sepsis is also called

  Systemic inflammatory response syndrome (SIRS) and can be noted as the beginning of

  Multi-Organ Failure (especially in our Trisomy 13 situation) if not treated immediately. 

                                    - ARDS - 57 days Post Op - Acute Respiratory Distress Syndrome (ARDS)

                                       can be caused by Sepsis but the Sepsis miraculously dissappeared after the onset

                                       of ARDS (confirmed through a blood test)

                                    -Pulmonary Edema – 58 days Post Op - one day before his death

 

Anthony passed away from the inability for his alveoli to exchange gases.

His heart was beating strong; his lungs had a normal respiration rate.

 

For more info on these life threatening issues, read our journal updates for Months 10 & 11 on our Daily Life with Trisomy 13 Page. 

 


OVERALL:

Anthony survived very strongly.  He was a heroic boy that overcame every obstacle in front of him with stout will.  He didn’t live a life connected to his Oxygen all the time and only needed it every once in a while (except in his last days he couldnt go without it).  He didn’t sport an NG tube taped to his face all too often in his life but only as needed to get over humps in his feeding and regular schedule.  The Pulse Ox monitor was not constantly connected and only used to measure his oxygen levels if he is in or near hypoxia.  He was connected to this the entire last two months of his life.  We didn’t keep him on an apnea monitor since his fourth week of life as we are always with him and aware of his every breath.  (I could even hear his breathing while I sleep - It’s a mothers blessing and a sleep deprivation curse - if you know what I mean).  

 

We unceasingly continue to love him and praise God for his beautiful and happy life, even after death to this earthly life.  He lives in eternal life now, with the angels and saints in the Glory of God our Father, His Son and the Holy Spirit. 

 

Our entire family is dependent on Gods grace and so thankfully in Gods care.  We do not regret bringing this child to a life of love and we are not ashamed to show him off to a world that doubts the decisions we’ve made.  Anthony is a child of God and he reminds us everyday of how our trust in God is enough to sustain our very existence. 

I am available via e-mail at
JaninaArritola@adelphia.net for discussion.  I offer any support I am able to give.  I offer my sons intercessory prayer for your petition that his intercession for you through the power of the Holy Spirit may bring you closer to Gods will in your request especially for those suffering from disability, 'Failure to Thrive' or 'Incompatibility with Life' issues.  Life is truly beautiful when it is not taken for granted.

 

 

I offer any support I am able to give. Life is truly beautiful when its not taken for granted.  I am available via e-mail at JaninaArritola@comcast.net for discussion.

 

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