Medical Issues

Mattie the day out of the ICU

Mattie just turned 11 months.  In these 11 months, he has gone through countless consultations with different doctors - each with their own fields of specializations (10 doctors to be exact).  A week after Mattie was born, our pediatrician recommended we see the following doctors: a pediatric cardiologist for his heart, a pediatric endocrinologist for his thyroid, a developmental pediatrician for his over all developmental profile, a pediatric ophthalmologist for his eyes and a geneticist for chromosomal analysis and family counseling.  Thank God Mattie passed his new born hearing test otherwise, we would've consulted a pediatric EENT as well.  When Mattie turned 9 months, he was infected by severe pneumonia and bronchial asthma and was admitted to the ICU.  Here we had to get the help of a pediatrician for infectious disease, an intensivist, and of course our general pediatrician. On his 10th month, he suffered again from a relapse of pneumonia and asthma.  Although his pneumonia was completely treated, his asthma attacks did not seem to subside.  Our pedia suspected that his asthma could be caused by reflux and so suggested we see a pediatric gastroentorologist for clearance as well.  My son has seen more doctors in his 11 months of existence than I have in my 34 years.

In my first entry, I mentioned that Down Syndrome is a genetic condition that resulted from having the presence of one extra chromosome in some or all of the body’s millions of cells.  It is because of this extra 21st chromosome that every system in the body gets possibly "screwed up".  Below are among the many medical issues a child with down syndrome may encounter.  It is therefore important that we - parents be aware of the possible medical issues that may arise so that problems can be detected and dealt with quickly and appropriately. 

1.  Congenital Heart Defects - around 50%-60% of babies born with down syndrome have heart problems.  Common defects are found in the walls between either of the upper chambers (Atrial Septal Defect/ASD) or lower chambers (Ventricular Septal Defect/VSD) of the heart.  Sometimes defects will involve the entire wall between the sides of the heart (Antrioventricular Canal/AV Canal).  Some defects are minor and may close on their own after some time but some defects may require major surgery.  Defects are normally detected via 2D Echo.

Mattie had his first 2D Echo when he was 2 months old, and another follow up 2D Echo when he was 6 months old.  Fortunately, he is part of the other 50% that does not have a heart condition.  Although the cardiologist found 2 ASDs and a Fistula in the walls of the chambers of his heart, the holes were small enough that they were likely to close on their own. PRAISE GOD!

2D Echo Interpretation

2.  Thyroid problems - there is great likelihood that a baby with down syndrome will have thyroid dysfunction.  They can either have increased hormone levels (hyperthyroidism) or decreased hormone levels (hypothyroidism).  It is important that the thyroid dysfunction be recognized and treated immediately. If not treated,  the baby's intellectual development get even more compromised.  Thyroid tests need to be done every year.

Mattie's FT3, FT4, and TSH results on his new born screening test, and follow up tests on his 6th month were all within normal ranges!!!

3.  Eye Problems - eye problems are also very common with children with down syndrome. Most of them have cataracts which may require surgery, some are crossed eyed, they're either near sighted or far sighted, are susceptible to blocked tear ducts, and may have rapid eye movements.

I brought Mattie to the ophthalmologist when he was 2 months old and a follow up when he was 8 months old.  He was found to have a mild peripheral cataract in the right eye.  The cataract was found in the extreme periphery that vision is not affected (YEY!!!).  The doctor also noted that Mattie has very good eye contact (another YEY!!!).  He might have to wear glasses though when he reaches a year old.   

Findings from Eye Exam

4.  Hearing - many children with down syndrome have mild to moderate hearing impairments, have frequent ear infections, and fluid accumulations due to the structure of their ears.  Hearing impairments have to be detected at the onset thru hearing assessments so proper treatment and early intervention could be done.  If hearing is impaired, language development is severely affected.  It is also important that the ears get checked regularly for possible infections.

Good thing Mattie passed the hearing test which was part of the new born screening exam.  This was at least something that we did not need to worry about among the initial rounds of tests and doctor's examinations done during his first month. 

5.  Respiratory Infections - children with down syndrome are prone to upper respiratory infections mostly due to the anatomy of their upper airway which include the ears, sinuses, nose, mouth, and throat.  Most kids have a flat nose that make nasal and sinus passages smaller thus contribute to more frequent colds and sinus infections.  Some kids have weaker immune systems which therefore make their bodies more susceptible to bacteria and increased upper respiratory infections. 

Mattie has had two episodes of pneumonia.  His first pneumonia was complicated further by bronchial asthma. He was admitted to the ICU as he had very severe pneumonia and was on the verge of upper respiratory failure.   All the resident doctors and nurses were on alert as Mattie could be intubated and be put on a ventilator at any time.  After a lot of prayers from family and friends, most especially from our pediatrician (who even organized a prayer brigade for Mattie's healing), Mattie responded to the medicines and his pneumonia and asthma were controlled.  We stayed in the ICU for 4 days and stayed in the hospital for 6 more days for a full recovery. 

After a month, Mattie again was infected by pneumonia.  Although his pneumonia was completely treated from a round of very strong antibiotics, he cannot seem to snap out of his asthma.  Our pedia is now looking into aspiration as the possible culprit for his pneumonia.

6.  Gastrointestinal Problems - babies with down syndrome may have birth defects that involve the GI Tract (mouth, esophagus, stomach, and intestines).  Due to this, some may have trouble with spitting up, vomiting, poor feeding and constipation. 

A common problem may also be reflux or GER (Gastro Esophageal Reflux), where that contents from the stomach move back up to the esophagus.  Due to the decreased muscle tone found in babies with DS, stomach contents move back up the esophagus, causing indigestion, colic, and vomiting.  In some cases, reflux may result in milk or stomach contents trickling into the airway thereby irritating the lungs and cause aspiration pneumonia.  Aspiration pneumonia is an infection of the lungs due to the germs from breast milk or formula. 

We are looking into the possibility that Mattie may have a problem with reflux due to his two episodes of pneumonia and never ending attacks of asthma.  He may have to undergo an endoscopy procedure to check if he is really suffering from GER. Currently Mattie is under medication to control reflux, hoping that the medicine can help him until such time that he outgrows the condition.  We will also be scheduling a swallowing assessment in order to see if Mattie can swallow fluids or food efficiently.  Reflux may also be reduced by proper positioning while feeding (keeping baby's head above stomach during and after feeding), and thickening of formula or breast milk by adding cereal. 

7.  Developmental Delays - children with down syndrome experience global developmental delays.  All areas of development are hampered due to the extra chromosome.  These areas include cognitive skills, communication skills, gross and fine motor skills, social and emotional skills, and self help skills.  It is also important to note that not all children with down syndrome are the same.  They have differences in attitude, character, and personality and their range of developmental disabilities (due to a lot of factors such as physical, medical and genetic issues) differ as well.  It is therefore important to also consult a developmental pediatrician who is knowledgeable in the overall development of our kids.  Other doctors have specializations toward the diagnosis and treatment of specific diseases while the development pediatrician is more concerned with helping parents assess the child's developmental progress.  They will be the ones who can guide us to the correct early intervention programs applicable to the abilities or readiness of our children.

We've consulted with a developmental pediatrician when Mattie was less than 2 months old.  The doctor noted that at 2 months, Mattie was cooing and was getting startled to sounds, has his head to the side (rather than mid line) had a good suck, had fair palmar/plantar grasp, had fair rooting reflex, and hypotonia.  She recommended that we go for early intervention services to have proper feeding and handling skills / positioning techniques, and this early to start with gross motor exercises. We will be visiting the dev't ped again when Mattie turns one.

8.  Genetic Counseling - I think the geneticist's role is really for the parents more than the child.  The geneticist will be able to provide counseling for the couple with regard to the chances of having another baby with down syndrome.  She can also find out exactly what type of Down Syndrome the baby has(Trisomy 21, Mosaicism, and Translocation) from looking at the baby's karyotype and provide the appropriate advise needed. 

Mattie's Karyotype

Mattie has Trisomy 21.  According to the geneticist, this type of down syndrome is completely accidental. Neither my husband nor I have caused this to my child.  Nothing I did or did not do before or during my pregnancy caused Mattie to have down syndrome.  Scientists have investigated the possible causes of DS for decades and so far has not determined its exact cause.  The only possible cause that could increase the likelihood of having a baby with DS is the mother's maternal age.  Chance increases as women age, and the risk gets even higher for mothers above 35 years old.  However it is important to note that a lot of babies with DS are also born to mothers under 35 years of age.  Once you have a child with DS, the risk of having another child with DS is 1 in 100.  This risk further increases after the age of 40.

All these doctors visits and consultations can be exhausting and exasperating for a first time parent.  Our first few weeks and months with Mattie were packed doctors check ups, blood tests, 2D Echos, and X rays.  There were even times when we go to the doctor two or three times a week for check up.  In addition to this, not only do we have to worry about his health, we also have to worry about scheduling physical, occupational and later on speech therapies for his overall development. 

I wonder what Mattie feels of all these?  If I'm exasperated, what more him who is the one that is constantly being poked by different doctors, and being inserted by countless needles for various blood tests? He has definitely gone through a lot.  I realize now how strong a fighter my son really is in his first few months.  I see how children with special needs fight for their lives, and that they should not be looked down upon but instead be given with the highest regard because of what they have been through.  I realize how I have been taking for granted the blessings of having a healthy baby, the gift of a body free of complications and disease, and senses that could hear, feel, taste and see. 

At the end of the day, I thank God for giving me Mattie.  He gave me a baby that could erase and wash away all these medical issues and pain with a single smile.  I thank GOD that he leads me to the right doctors and therapists that could help my son be the best he could be and  I thank God that there is available support for parents like me and that I am not alone in this journey.


Mattie's Mom