Friday, March 23, 2007

Our Precious Angel, Raphael Roque

The past 3 weeks have not been very easy for me and my husband. During this period, much time has been spent praying, soul-searching and asking for prayers from our friends. No words could adequately describe what we felt and are currently feeling during these most trying times. Enclosed is a copy of the e-mail we sent out to our family and friends. Please include us in your prayers.

Dear family, friends and colleagues,

You all witnessed how happy we were for the last 7 months because the Lord blessed our union with a child in Mar’s [this is my nickname - ladybug] womb.

However, as some of you may already know, this happiness was short-lived. The 6th ultrasound 3 weeks ago showed what could be the presence of an omphalocele in our son’s stomach. We immediately searched the web and found out that an omphalocele is a congenital (found at birth) malformation in which variable amounts of abdominal contents protrude into the base of the umbilical cord, in our son’s case, his stomach and intestines. As the fetus grows in pregnancy, the intestines grow and get longer and project from the abdomen into the umbilical cord. This growth is taking place from the sixth to the tenth week of pregnancy. Normally the intestines return rapidly into the abdomen by the eleventh week of pregnancy. If this fails to happen, an omphalocele is present. However, more than half of all infants born with an omphalocele may have other birth defects. Some of these defects may be serious. This was what alarmed us instantly. We kept praying and hoping that it would just be an omphalocele, with no other complications.

We then went to see a perinatologist 2 weeks ago for a high-level ultrasound. We received more shattering news. Our son did not just have an omphalocele, he has several other congenital defects as well: hypoplastic left heart syndrome (A rare but serious congenital heart defect. It is the most common cause of death from heart disease during the first week of life.), absence of nasal bone, clubbed hands coupled with clinodactyly, among others. Presence of all these symptoms are highly suspicious for the presence of Trisomy 18. At present, further testing is deferred until Mar gives birth and the cord blood could be subjected to Karyotyping in order to fully diagnose the presence of trisomy 18.

What is Trisomy 18?


At conception, 23 chromosomes from the father and 23 chromosomes from the mother combine to create a baby with 46 chromosomes in each cell, two of each type. Each chromosome holds a particular "position" in the cell and carries certain genetic material. A trisomy occurs when a baby has three chromosomes in one position instead of the normal two.

The most common trisomy is Trisomy 21, also known as Down Syndrome, where a baby has three of the twenty-first chromosome. Trisomy 18 is the second most common trisomy and occurs when a baby has three of the eighteenth chromosome. This results in 47 chromosomes instead of the normal 46 in the affected cells. It is this extra genetic material that causes the problems associated with Trisomy 18.


Trisomy 18 is also called Edwards syndrome (or Edward's syndrome) and occurs in about 1:3000 conceptions and 1:6000 live births, as 50% of those diagnosed prenatally with the condition will not survive the prenatal period. Unlike Down syndrome, Trisomy 18 is usually fatal, with most of the babies dying before birth and those who do make it to birth typically living only a few days. However, a small number of babies (<10%) live at least one year.


Most trisomies (about 95%) are full trisomies. That is, the extra chromosome occurs in every cell in the baby's body. This type of trisomy is not hereditary, and is not due to anything the parents did or did not do, and it is by far the most common type. In most literature, Trisomy 18 means full Trisomy 18.

This disease has been described as “incompatible with life.”

No one, not even the doctor, could assess our son’s percentage of survival. Other children with t18 and with no heart complications have survived for a few months, while others without the heart disease did not even make it to full term. Each story is different for each family.

Please don’t hesitate to ask us how we’re doing or to discuss our son’s current situation. Sometimes, talking about it is a big help. At this point, we cannot do anything but continuously pray for our son. Aside from our family, we also felt the need to inform our friends and work colleagues in order to avoid awkwardness, inform people about this disease, and more importantly, to ask for your prayers.

We hope that we get the chance to meet our son alive and for him to be baptized Raphael Roque Nuval Mance.

Sincerely,

"Hush! My dear; lie still and slumber;
Holy angels guard thy bed.
Heavenly blessings without number
Gently falling on thy head."
- by Isaac Watts

24 comments:

snglguy said...

Hi ladybug, just dropping by to check up on things. I'm glad you've finally opened up the comment box as I've been trying to post one since reading this post. Anyways, I hope you were able to read my comments on your other blog...

I really am shocked and at the same time, saddened by this piece of news... :-(

bugsybee said...

I am really, really sad to read about this. I have never before heard of t18 so I had to read and read again to be able to understand what it is about. I am sad but I pray for you and your precious angel, Raphael Roque.

P.S. What an appropriate name too because the archangel Raphael means "God has healed".

Major Tom said...

This is really a sad situation for you ladybug but I'll be hoping and praying that your wish could be fulfilled, to see you son and be baptized with the name you have for him. With mediacl advancement today, there's a great hope still.

Sidney said...

Oh, Ladybug, I am so sad to hear about this bad news. I can only hope for the best and I wish you much much strength in the weeks to come. I admire your courage. You, your husband and Raphael will be included in my prayers and my thoughts.

ladybug said...

snglguy> Thank you very much for the kind words and prayers. Yes, I read your other comment. Acceptance is slowly sinking in but there are still moments when I can't help but cry. I just keep in mind that Raphael is still alive in my womb and deserves to live in a happy environment. I'm comforted by the fact that many people are praying for him. Again, your words and prayers are very much appreciated. :-)

ladybug said...

bugsybee> This is also the first time I've heard of trisomy 18, otherwise known as Edward's syndrome. After talking to the doctor, I discovered why. 90% of those affected do not live beyond one year. I've often heard of Down's syndrome (trisomy 21) because we see lots of survivors, pero yung sa Edward's syndrome, sobrang rare talaga.

Regarding his name, I'm glad I decided on "Raphael" before I even knew his condition. I really wanted to name him after one of the archangels. Swak pa pala yung napili kong name, thanks for pointing it out. Thank your for the kind words and prayer.

ladybug said...

major tom> Thank you for the kind words and for praying for Raphael. I really appreciate it because Raphael needs all the help and prayers he can get. Regarding medical advancement, while they can cure the symptoms of t18, I'm afraid they haven't found a way to reverse and remove the additional chromosome. I sure hope that someday they can find a cure for this disease.

lazarus said...

I don't know what to say! I saddened by the news.

I pray that God will give you more strength in this very difficult time.

ladybug said...

sidney> Thank you very much for the encouragement and for the prayers. As I've often said, it uplifts my spirit knowing that there is one additional person out there praying for my son. Many of my friends have commented on my courage, but I attribute it to the fact that Raphael is still alive in my womb and needs to live in a happy and positive environment. I'm afraid that when he comes out and my worst fears come true, I will really break down and be depressed.

ladybug said...

lazarus> Thank you very much. I've realized that people don't have to say anything at this point, just knowing that they're there and praying for us is already a big help. Again, thanks. :-)

Lani said...

I will include Raphael in my prayers. It's really hard, Ladybug but I admire you and your hubby's courage and strength.

David Edward said...

hi ate! sad po ako for what happened, pray ko po kau. tska Lord is there up above. Im sure He will help you. pahinga ka po and balik po ako d2 para sa anumang balita. :D
Godbless po!

ladybug said...

lani> Thank you for your kind words and prayers. It really is very hard....a day-to-day struggle.

ladybug said...

david edward> Thank you for your kind words and prayers. Kailangang-kailangan namin ang mga dasal ninyo. Hanggang ngayon yata nasa state of shock pa rin ako eh. Di ko naimagine na mangyayari sa akin ito. But I know that the Lord has a reason for everything.

vic said...

I am really saddened to hear the sad news, but at the same time encourage by your courage and may you will have your wish of seeing your son Raphael in your arms. My thoughts with you and your family...

Jennie said...

Oh my! It's been a while since I visited your blog and this is what I read. I am so sorry to hear about the little bubbba's condition. You must be heartbroken by this sad, sad news. =(

My prayers are with you in this time of need. I wish you and your husband all the strength you need to endure this trying time.

ladybug said...

vic> Thank you very much. I'm trying to be strong because Raphael is still alive in my womb. I want him to live in a happy, healthy environment because we have no idea how long he will survive after birth.

ladybug said...

jennie> Thanks for your kind words and for including us in your prayers. I am still in a state of shock because one minute we were planning on our child's education and the next minute we had to be realistic and plan for funeral services. I have broken down many times but my husband keeps reminding me to be strong because Raphael will certainly feel my grief.

Rey said...

I was really shocked to read this post and felt heavily for the baby. I have a son and I knew how it felt holding a precious thing whom you know is a fruit of love.

I wish I can say more to let you know that in a way it pains me too. I know we don't know each other but I canno just let apathy get in the way. I do feel your pain, not just for the sake of saying something.

Watching a child grow and learn each passing day is a lesson of joy. And I hope, in my most sincere self, that you can experience this magic too with your little angel.

Be strong.

Senor Enrique said...

Stopped by to see how things are with you and the family on this Lenten Season. Trust all is fine now with you and your angel.

Mita said...

Ladybug, I checked on your blog after many months to see if you had given birth already and read about this news. From a woman who has never experienced a pregnancy, I want you to know that having your baby growing inside of you is blessing enough. It's a privilege not every woman will know and you have been very blessed indeed - you HAVE Raphael and there is no changing that.

My prayers are with you, your husband and the baby.

Mita

Senorito<- Ako said...

I don't know what to say. I really hope that everything turns out well.

JMom said...

Hi ladybug, I don't know if I have any words to comfort you, but do know that I am praying for you and your family.

ladybug said...

rey, eric, mita, senoritoako, jmom> Thank you for all your kind words and prayers. I will be updating soon.