Lymphangiomatosis and Beyond

First day at home after his three month hospitalization.  Picture of his machines.

It was August 2010 and we were finally home!  We had more machines, medical equipments, medicines and twice as many doctor's appointments.  He also started seeing the hematologist/oncologist.  One of the conditions for the Rapamune was to visit the heme/onc every other week for blood drawings so they can assess his levels. 

Our home nursing was and is still at its maximum hours.  Caleb is classified as a level 3 patient.  This means, he requires almost 24 hour care.  We knew we had to adapt to his medical needs again.  Caleb's resilient and so are we.

One of the major changes we adapted to was to decrease his interaction with the rest of the world.  Previously, we took Caleb everywhere.  With the Rapamune (Sirolimus), an immune depressant, we were careful about exposing him to germs, bacteria, and virus.  Since his immune system is comprimised, a simple cough can be highly detrimental to his health.  I'm amazed how powerful this medication is.  He only takes .2mL of it twice a day.

OVERALL PROGRESS

Prior to his hospitalization, Caleb was making good progress with his motor skills.  He was able to sit up for a long period of time.  He was also eating for therapeutic purposes regularly.  But after this hospitalization, he regressed quite a bit for good reasons.  The priority at the hospital was to treat him symptomatically and breathing was at the top of the hierarchy of  his medical/developmental needs.

Caleb tired easily.  He was not as active as he used to be.  His movement was limited because he was on the ventilator 24 hours a day.  He was also on continuous feeds at a rate of 50mL/hour 24 hours a day. 

Overall, he was attached to several machines 24/7.  Even with all this, our faith in the Lord remained strong.  We did not question why things happened.  Instead, we accepted everything we're going through as a gift from the Lord.

We kept remembering this verse from Romans 8:28:

And we know that in all things God works for the good of those who love him, who have been called according to his purpose.

3 Month Hospitalization

"One step forward, two steps back"

This idiomatic expression clearly captured my sentiment at the time.

We were making so much progress identifying the SVC obstruction.  The lung was scanned and biopsied in order to determine the best plan to address his cardiac lesions.  Instead, the scan revealed multiple posterior bilateral pleural nodules.  The same nodules in the heart was found in the lungs!  The lung biopsy collapsed his right lung.  Despite bilateral chest tubes, Caleb had persistent chylothorax, haemothorax, and pneumothorax during his three month hospital stay.

Emergency procedure in the ER (collapsed lung, chest tube) May 2010

After chest tube was inserted May 2010

In May 2010, not only did Caleb have a collapsed lung, the SVC obstruction was not yet addressed.  To make matters worst, the first sample from the biopsy was inconclusive.  Consequently, another biopsy had to performed to get a decent sample of the nodules.

When we finally received the results from the second biopsy, the doctors were able to place a stent in Caleb's heart.  In June 2010, after the stent, Caleb stopped his "tantrums" and he started to look better.  However, he had bilateral chest tubes, both outputting blood and chylous fluid. This lung issue continued for three months and the doctors were increasingly troubled and perplexed since the output was unstoppable.

After the stent was placed June 2010

The experts scrutinized every possible treatment plan in attempt to stop the output.  They attempted many different options such as TPN, PICC line delivery system, low fat diet, etc.  Furthermore, procedures such as pleurodesis, chest tubes, morphine drips, and blood transfusions were performed.  He also required mechanical ventilation, with settings of  breath rate of 12, PS 15, sensitivity 1 and 1-2 liters of O2.

After the pleurodesis June 2010

DIAGNOSIS

Caleb was admitted to the Pediatric Care Intensive Care Unit (PICU) in May 2010 and as of July 2010, a unifying diagnosis was still unknown.  Despite all the procedures attempted, he still required chest tubes and the ventilator.  Prognosis was not good.  At one point, a care plan was scheduled with palliative treatment on the agenda.  We were unhappy at the general tone of the conference.  It seemed the doctors were out of options and were preparing us to focus on alleviating symptoms to make Caleb comfortable and ease pain and suffering without aggressively curing the disease.

Pictures above were taken during his three month hospital stay

We were desperate.  Instead of giving up and feeling hopeless, we turned to God for guidance.  God orchestrated the next few events leading to diagnosis.  People from church were actively involved in researching possible leads.  After countless prayers, I finally had enough resources to contact.

Some of the organizations/medical facilities we contacted were:

• Cincinnati Children's Hospital
• Boston Children's Hospital/Harvard Medical School
• National Institute of Health
• Milwaukee Children's Hospital
• Lymphangiomatosis & Gorham's Disease Alliance

We sent boxes of Caleb's medical records, pictures, slides, x-rays, etc. to all who were interested in reviewing this medical conundrum.  We were persistent in making contact with providers and experts in the field.  Within 48 hours of sending the preliminary records to Boston Children's/Harvard Vascular Anomalies Center, we received the results of their multidisciplinary Vascular Anomalies conference.

Based on their findings, they believed Caleb has what they refer to as generalized lymphatic anomaly, which other institutions refer to as "lymphangiomatosis."  Caleb's imaging revealed extensive involvement in both lungs, spleen, kidneys, and mediastinum. They had recommended to continue to treat Caleb symptomatically.  They stated "while the prognosis for the disease is difficult to determine, there are some cases where patients can stabilize for a period of years but there are also those who continue to progress with worsening of their condition."
They recommended Rapamune (Sirolimus) treatment.  At the time, trials were currently underway at Cincinnati Children's Hospital for patients with lymphatic processes.   We considered participating in the clinical trial.  Due to Caleb's fragile state, we felt participation was not conducive at the time.

We prayed all the time for God to find a way to give us the medicine locally, without having to travel/participate in clinical trials.  Then in August 2010, our prayers were answered.  Several doctors advocated for Caleb to be approved for the medication and after a week, we received the medication!

After two weeks on the medication, Caleb improved.  The chest tubes were removed.  Shortly after that, we were discharged.  We were sent home with a ventilator and so many medications - mainly cardiac meds and diuretics plus the Rapamune.

Transport team getting Caleb ready to go home

Pre-Lymphangiomatosis

We continued to live a normal life after his defenestration procedure.

At the Aquifer

With Grandpa having dinner at Red Lobster

Caleb continued to get scans everywhere - kidney, liver, spleen, heart, and brain.  We were getting that horrible feeling that something isn't right, but no one wanted to admit it.  We continued to pray and be optimistic - we convinced ourselves that these scans were routine.

HEART PROBLEMS & BIOPSY

In May 2010, the cardiologist scheduled an appointment so he can perform a full scan/study of Caleb's heart.  The arrythmia was still a concern but with the combination of the meds Digoxin and Propafenone, Caleb's heart rate was steady.  His rate was (and is) alarmingly slow for his age.  Normally, his rate is at 70bpm or below.   We all agree this is better than 200+ bpm.  Everyone who knows Caleb is familiar with his heart rate.  The staff in the hospital even referred to him as "the baby with the low heart rate."

At the check-up, the cardiologist was uber concerned with the "nodules" he discovered in his heart (five total).  Most of all, he was perturbed with the nodule obstructing his superior vena cava (SVC).  Apparently, the "tantrums" were causing the cyanosis.  The cardiologist acted very quickly and called a meeting with all of Caleb's providers so they can discuss the best course of action. 

Initially, a surgery (open heart) was thought to be the best plan to remove the obstruction - but it was dismissed due to the risks involved.  We had to go with plan B.  The plan was to scan the lungs and if similar nodules were present, biopsy the lung, study the sample and then figure out the least invasive procedure.  So in a matter of days following the echocardiogram, Caleb found his way back to day surgery for a lung needle-biopsy.

Hours after the biopsy, Caleb was cleared to go home.  The little trooper was all smiles in the recovery room after the procedure.  Little did we know that the next day, we will be rushing him to the emergency room for an emergency surgery.

First Birthday

SCAN

Prior to Caleb's first birthday, we were scheduled for a scan to follow-up with his undescended testis.  The pediatrician and the urologist wanted to perform surgery to correct the problem, but wanted to time the procedure with other procedures he may have.  This decision was based on convenience and one-time sedation and recovery, since there was discussion about possibility of removing the cerebral cyst, as ordered by the neurosurgeon.

To our dismay, the scan in December 2009, originally for the testis, revealed cysts in his kidneys and spleen.  We were devastated.  The pediatrician was concerned about the findings, but she decided to monitor the cysts for the time being.  We were so thankful that despite everything, Caleb was turning one in a few weeks!

Yo Gabba Gabba Themed First Birthday

Presents (Mostly Yo Gabba Gabba themed toys)

TEMPER TANTRUM

Caleb started developing a bad habit as well.  When upset, Caleb learned to hold his breath, exhibit seizure like behavior, and turned blue (sometimes it looked as if he "passed out").  We thought it was odd and attributed the behavior to a temper tantrum.  Doctors were concerned as well, but they ruled out seizures.  They agreed it was a tantrum.

CEREBRAL CYST

During this time, the neurosurgeon decided to schedule an endoscopic defenestration of the cerebral cyst for March 2010.  Due to the "temper tantrums" and Caleb's cardiac problems, the doctors decided against the surgery as suggested by the urologist.  They felt simultaneous surgeries along with his other medical issues may be detrimental to his recovery.


Recovering from the surgery



CHIARI MALFORMATION

The surgery went well.  Caleb was free of the cerebral cyst.  This meant the possibility of the shunt is out of the equation.  We were relieved.  However, the neurosurgeon informed us that there is a small chance the surgery has to be repeated in the future.  The doctors continued to follow-up with Caleb. 

They also diagnosed him with Chiari Malformation - structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination (National Institute of Neurological Disorders and Strokes).

We went home after the surgery and things were back to normal - except Caleb earned a scar on his head.  Amazingly, his "tantrums" decreased.

Scar on his head, reminder of the surgery

Home (At Last)

Caleb was finally discharged from the hospital around May 2009. Our lives changed instantaneously! It was nothing I imagined. I thought I was going to have a baby, stay in the hospital for two nights, go home, and be a mother. My expectations were so wrong. Instead, our home resembled his hospital room and our schedule revolved around his (medical) needs.

We had follow-up appointments with his specialists on a regular basis, procedures such as EKG's, Modified Barium Swallows, scans/x-rays, trach clinic, and his regular pediatric/wellness/immunizations.  In addition, Caleb had speech, occupational, and physical therapy appointments at home and several case workers who visited regularly.

Thank God we had assistance in the form of home health care providing Caleb almost 24/7 care.  We were able to work because of them.

DAILY LIFE

Despite the challenges, we still maintained a normal life.  Sure it was difficult for the most part, but we adjusted eventually.  Caleb's machines with includes a humidifier, suction, oxygen, feeding pump, oxymeter, and nebulizer became a necessary part of our lives. 

Even with all his medical equipments, ambu-bag, go-bag, diaper bag, medical folder, formula and medicines, we were mobile.  We took everything with us everywhere we went; whether it be at the church, mall, restaurants, a friend's house, or doctor's visits/procedures.  We even made it via a commercial flight to Las Vegas, NV in November 2009 to visit family and friends.

Caleb in Las Vegas November 2009

Our schedule was structured around Caleb:  his appointments, his scheduled activities, his medicine.  Even our work schedules revolved around his needs.  For example, if we didn't have a nurse, my husband and I would take turns sleeping or we would take turns calling in at work so someone's with Caleb at all time.  We were unable to have other people watch him who were not medically trained, for obvious reasons.  Simply put, we were hyper-vigilant and always careful, prioritizing his safety.

It's a blessing from God that our tribulation strengthened our relationship.  We had heard of incidences where couples separated due to the stress of having a special needs child.  I'm blessed I have a supportive husband.  He is my rock.  Through it all, our faith and relationship with the Lord grew deeper.

My husband Paul, Christmas 2009

Caleb

Caleb was a whopping 10.4 lbs at 38 weeks gestation.  The medical issues started in utero when the first sonogram revealed anomalies with his heart rate.  Caleb had episodes of supraventricular tachycardia in utero.  His heart rate reached up to 250 bpm frequently.  We knew then that Caleb was going to have some medical issues but we were unaware of the complexities yet to come.

FIRST FOUR MONTHS

Caleb's first day

Though Caleb looked healthy based on his weight, our little angel was in the Neonatal Intensive Care Unit (NICU) from birth (January 19, 2009) to May 2009.  He was in two different hospitals and was seen by multiple doctors.  Initially, he didn't have a clear unifying diagnosis.  He exhibited several symptoms, but the underlying cause of his medical issues was unknown.  This proved to be baffling to his medical providers.  He had a multitude of experts following him comprised of a neonatologist, neurologist, geneticist, urologist, cardiologist, pulmonologist, surgeon, and an ENT.

Some of the symptoms/initial diagnosis were:

• Cerebral Cysts-Congenital
• Laryngomalacia
• Airway Obstruction
• Chronic Respiratory Acidosis
• Arrythmia
• Premature Atrial Contractions
• Hypotonia
• Gross Motor Skills Delay
• Feeding Problem

Due to his symptoms sans a unifying diagnosis, several procedures were performed during the first four months in the NICU.

PROCEDURES

Caleb had several surgical and non-surgical procedures the first few months.  They included gastronomy/fundoplication, tracheostomy, muscle biopsy, several scans and genetic tests.

Gastronomy/Fundoplication Month 1

Tracheostomy Month 2 1/2

Overall, the symptoms were attended to as they manifested.  The plan of care simply was reactive since there was a lack of understanding of the cause of the problem.  Hence, preventative measures were ineffective at the time.  

My husband Paul and I stayed with Caleb the whole time he was in the NICU.  I had left work for five months and did not return to work until June 2009.  We had to wait until he was discharged.  When we were cleared to go home, we needed to find a home health agency to provide coverage for Caleb while we worked.
While the hospital stay seemed like infinity, Paul and I were both excited and scared to finally take our Caleb home.  We had machines we had to learn to use, medication we had to dispense on time, trach care we had to do daily,  and a new baby.  Furthermore, we had to adjust to our new life:  living with a special needs infant.

Home at last

Introduction

Our son Caleb is diagnosed with lymphangiomatosis.  He is 2 1/2 years old.  My main reasons in creating this blog: to raise awareness of the disease and to share our experiences with others.  

I should start from the beginning.  To view a rather detailed synopsis of Caleb's first nine months, one can click here.  The first blog I created was all about Caleb, mostly to update my friends and family.  However, it would be remiss not to mention the blog was created prior to the diagnosis of lymphangiomatosis.

To better understand the disease, I turned to wikipedia.org as a resource.

DEFINITION 

Lymphangiomatosis (LYMF) is a condition where a lymphangioma is not present in a single localised mass, but in a widespread or multifocal manner. It is a rare neoplasm which results from an abnormal development of the lymphatic system. This may involve one or several organs.

SIGNS & SYMPTOMS

Lymphangiomatosis can present with pericardial effusions, pleural effusion, ascites (fluid in the abdominal cavity), and internal bleeding. CT scans on some patients have been similar to lymphoma as tumor-type masses have been found in the mediastinum. The fluid involved in these effusions is chylous (milky type fluid) in nature.

LYMF can involve tissues like the lung, spleen, digestive system, and reproductive system.  Symptoms include shortness of breath, difficulty breathing in (inhaling), severe pain in the abdominal cavity and pelvic cavity, and lymphedema (swelling).

DIAGNOSIS

There is no current standard for diagnosing this condition. The symptoms, clinical presentation, and typical radiographical findings can assist in the diagnosis.  A biopsy is the ultimate method for diagnosis, but is not always possible. The disease can even occur with no painful symptoms at all.

LYMF is frequently diagnosed in children nearing puberty. Although this disease is not limited to being identified in infants, young children, and adults of both genders.



TREATMENT

Treatment with vascular growth inhibitors may slow the progress of the disease. More recently, it has been effectively proven that Interferon Injections (Chemotherapy treatment)help slow the growth of these lymphatic masses.

PROGNOSIS

LYMF has a common fatality rate, although patients may live for ten years or more.