Bound Together by Misspelled Genes

How can your heartbreak for a child you've never known?  How can you feel the sadness of someone whom you've not ever met?

We are all bridged together by a threads of commonality - a single gene that has allowed us to connect in one way or another.  That misspelled gene that brought about our children's condition, is the same thread that binds us all together.

I received a Facebook friend request today from someone I did not know.  As soon as i checked her profile, a familiar face greeted me - the face of a child with Apert Syndrome.  Perhaps because of my familiarity with Nina's case and the friends i have made both here and in other places has taught me to zero out on the Apert kid merely by their facial features.  Sometimes I check the hands just to make sure, but more often than not, there is no need to do so.

I saw that that she and I had common friends from the Cranio communities and i was pleased to see that she was based in the Philippines.  I approved the friend request and added her up to the Apert Manila page that I had created as well.  A few minutes after, she sent me a private message.  And so i came to know of this pretty little girl nicknamed Ramram and her strong-willed Mama Raquel even though it was too late.

They chanced upon Nina's video on you tube.  Seeing how well she had thrived after her own surgery, they decided to bring Ram to PGH for her craniotomy.  The procedure had gone well, or so it had appeared.  But in less than 24hours, her vital signs went down and then she was gone, all too soon.  Despite the fact that she was under the care of one of the best cranio teams here in Manila, the path which they had begun to create for her came to an abrupt end.  

My heart bleeds for the parents of Ramram.   My heart bleeds for Mommy Raquel who treated Ram like her own.  I couldn't help but cry at the idea of bringing in a well child to the hospital with hopes of even making her life even better only to end up not being able to bring her home anymore, or hug her, or kiss her evenf or one last time.  I scan through the pictures of her mom's facebook account and all I see is a beautiful and angelic face.  A face no different from Nina's.  I am told that the reason they had the courage to go through with the surgery was because of Nina.  I can't help but think if things would have been much better for her if they hadn't seen the video at all.  While it seems that the Lord had other plans for Ram, the loss of such a young life is disconcerting.  The thought pains me but I know that what I feel now cannot even match half of what her parents felt when they were told of the news.

I have always favored the saying that "everything happens for a reason" but when that 'everything' happens to you, no amount of reasoning will ever be enough.  When grief and sadness envelope your whole being, everything else will come up empty.  

I know very little about this family and yet my heart believes that no matter how short she had spent her life with them, the memories they have of her will always be special.  Her presence albeit short, will change them drastically but hopefully positively, in the same way that knowing of her story has changed me over the last 24 hours.

Everything happens for a reason.  Whatever the reason may be, I pray that Ram's sacrifice of having to give up her wonderful earthly family was not in vain.  I pray that all families who are experiencing or who have experienced their own losses will find the light at the end of the tunnel.  I pray that we all learn to appreciate everything that we have, regardless if these aren't what we had hoped for.  I pray that each parent will, at the end of the day, never forget to hug their children and tell them how much they are loved.  

And to you Ram, i wish I had met you.  i wish Nina had met you because you would have become such good buddies, I'm sure.  Thank you for blessing our lives even though you are no longer around.  Thank you little angel, thank you for giving us so much in the so little time that you had on earth.  Go ahead now, flap your wings - it's time for you to fly high.  Rest in peace sweetie, your task is completed and you have done it well.

Ramram and Mommy Raquel (photo used with permission from the owner)

Hearing our Way through the Lenten Season

                Okay, so I admit I wanted to challenge God a little.  I was hoping that considering we’re smack in the middle of the Lenten season, maybe He might want to rise up to the challenge of making a miracle out of our situation.  But then that’s completely ignoring the fact that my little girl is a miracle herself.

                What am I talking about?  Ears.  Yup, those fleshy things that stick out from the sides of our head.  For normal children, these barely (if at all) pose any concern for us parents.  But for children with midface hypoplasia the ear infections are common.  If left untreated, it could lead to severe hearing loss or at worse – to meningitis.

               Because the doctors had noticed Nina’s ear infection did not seem to subside even with antibiotics, we were advised to get a hearing test just to see how much the infection had affected her hearing.  The original test recommended to us was a Play Audiometry and a Tympanometry.  The tympanometry was a breeze since it didn’t require much from Nina other than to wear the headphones.  The play audiometry on the other hand involved her having to place pegs on the board the moment she hears a sound from the headset.   It started out good since the headset was not an issue to her, but compliance was another thing since she preferred to pay attention to the toy in front of her rather than follow the instructions and listen to the sounds coming from the headset.  Fail!

Taken during the Play Audiometry 

Crying because of the probes

               So we had to make arrangements for another test to be conducted in place of the play audiometry.  This time, we had to make sure that she was asleep during the whole procedure.  That meant keeping her up late and then waking her up early so that she would agree to take a nap in the ENT clinic.  The first time, we let her fall asleep during her usual bedtime schedule of 7pm but then we woke her up 4 hours earlier than usual.  Although she feel asleep in the clinic, she awoke easily especially when she felt the probes attached to her.  Another fail.

All cried out

            During the second try, we kept her up until 10:30pm and woke her up 4 hours ahead of the usual time once again, giving her only 5 hours of sleep compared to her usual 10-11hours in the evening.  That did the job!  Unfortunately, it took longer for the nurse to complete the test so by the time she woke up, only the BAER (Brain Auditory Evoked Response) had been administered.  We decided to take advantage of her lack of sleep and schedule the ASSR (Auditory State Steady Response) as soon as possible.  The earliest available schedule was the next day so we went with that.  Once again, we followed the same pattern of letting Nina sleep late and waking her up early.  So after 3 days of very little sleep, we were finally able to complete the tests.  We also realized during the course of these late nights, that Nina would fare very well working either the night shift or perhaps doing a straight shift at work when she is old enough.

2nd try - fast asleep before they started the test

3rd and final try

Even before the actual report came out, we were already aware that one of the test results would indicate Nina having moderate to severe hearing loss but we were also advised that this should not be taken as it is but that it should be co-related to the other test.   I need to point out that upon interacting with Nina, one would never think that she had any form of hearing loss.  It was only when the Developmental Pediatrician pointed out to us that it may be possible that she was having difficulty in enunciating words clearly because the infections were preventing her from hearing the correct pronunciation of the words.  

By the time we met with the ENT this morning, I knew deep inside my heart that tubes were a big possibility.  I stubbornly resisted the thought however because as I said, I was hoping we would be given a Lenten miracle inspite of the fact that I had been remiss of my usual Lenten sacrifices.  Hearing the explanations from the doctor made me want to cry again because I didn’t want to add another surgery this summer except for the 2^nd syndactyly release which was originally supposed to have been scheduled last year.  Yes, I really am pig headed and I associate that to the fact that I was born during the year of the Pig. 

          To top it off, I was hoping to hear that the tubes would guarantee that her hearing would then be normalized.  But the doctor was quick to point out that while it is possible that the tubes would improve her hearing, it is also possible that it will barely make a difference.  Plus, because they would be using longer (and wider) tubes also referred to as T-Tubes, it is possible that even when these tubes are removed, the hole may not close anymore.  Swimming (which Nina absolutely enjoys) will   have to be done with extreme care.  With all the cons going on in my mind, I really had to ask why the tubes were necessary in the first place.  We were told that without it, the hearing loss could progress to the point where she could become completely deaf or, as mentioned previously, she could get Meningitis.  So there, that really doesn't give us much of a choice doesn't it?  Oh boy…

          So now our next step is either to seek a second opinion or get a second doctor who can perform the procedure in the hospital where her hand surgery will be done.  I guess that means more consultations, more tests and more doctors appointments.  Such is the life of my 3 year old daughter.

          But that’s the way it is… she isn't complaining so what right have I got to complain myself?  Besides, like I said earlier, I know that my daughter’s life has been filled with miracles since the day she was born and for that I should be grateful - not that I am ungrateful, in fact every night just right before I sleep, I can’t help but stare at her and thank the Lord for bringing her into our lives.  Still I wish that her life were spent more in the playground than in the doctor’s clinics. 

          Lord, I’m sorry for testing you – I should have known better.  I know that at this point in time, I just need to let go and let You work your plans for Nina.  Trust has always been an issue for me, You know that I’m always on the lookout for a neon sign flashing in front of my face whenever You orchestrate miracles in my life.   I am trying though, I’m trying really hard.  And this Lenten season, I know that with Your grace, Nina and the rest of us will be able to go through whatever challenges lay ahead of us.  We know that You will remain faithful to us every minute of the day, 24/7.  Let Nina's ears open up our eyes and our hearts that You continue to be on our side even when we have lost our way.  AMEN!

Thank you, San Pedro Calungsod!

The Philippines recently celebrated the canonization of it's second Filipino saint - San Pedro Calungsod!  The canonization was done last October 26th in Rome by no other than Pope Benedict XVI.

With all the excitement going around, I was sure that novenas would definitely be abound and since my sister was on a business trip to San Pedro's hometown of Cebu, I requested her to get me a novena prayer to San Pedro.

I had several prayer requests in mind like guidance for the business venture that my friends and I were looking into and of course, Nina's Otits Media (ear infection) which I discussed about in this post.

As soon as I received it, I began to pray the novena although admittedly, there were some days when I missed out on praying.  Still I knew that our new saint would be kind enough to intercede for us especially since an innocent child was involved.

Today, I was finally able to squeeze in a schedule with the ENT from our HMO network.  Although we waited far longer than the actual consultation, it was well worth it.  The result of his check up?  NO EAR INFECTION, THE EARDRUMS ARE CLEAR!!!  I wanted to hug the good doctor but I dont think he would have appreciated that so I immediately shared the good news with hubs.  Of course, we're still having the hearing tests done and I'm still praying that they come out well.  Not that we've noticed any problems with Nina's hearing but I understand fully well that the doctors want to be sure taking into considering Nina's medical history.

So from the bottom of my heart, thank you San Pedro!  Thank you also because it appears that my wish to have a Pedrito doll is now possible.  Ins't he a darling?

For those of you who are interested in the Novena Prayer,  allow me to share it with you:

Prayer to Blessed Pedro Calungsod

Blessed Pedro Calungsod,

student, catechist, young migrant, missionary, faithful friend, martyr,

you inspire us

by your fidelity in times of adversity;

by your courage in teaching the faith in the midst of hostility;

and by your love in shedding your blood

for the sake of the Gospel .

Make our troubles your own

(here mention your request)

and intercede for us before the throne of Mercy and Grace

so that as we experience the help of heaven,

we may be encouraged to live

and proclaim the Gospel here on earth.

Amen.

Asking for EARnest Prayers

We had originally planned on scheduling Nina’s 2^nd syndactyly release right after hub’s birthday especially since we were having a long weekend that time, not to mention the school semestral break.  Unfortunately, she developed a bad cold which progressed into a cough the week before the scheduled date so we had to postpone again.  Her doctors are adamant that whenever a surgery date has been set, Nina must be clear of any coughs or colds two weeks before the surgery date.  This is mainly to ensure that no complications would arise during the surgery since they need her nasal passages to be clear as for the general anesthesia.

Recently, the kids had been diagnosed with Allergic Rhinitis and Asthma (sadly both of which were inherited from me) and both of them have been placed on maintenance medicines just to avoid any episodes particularly during the pollen season and the wonky weather.   It was during one of those check-ups with the ENT that the doctor pointed out that Nina had an ear infection perhaps connected with her never-ending sniffles and the cough that went with it that time as well. 

For a person with Apert Syndrome, it is typical for the midface portion to be hypoplastic  or underdeveloped.  That being the case, when ear infections happen, sometimes the liquid/pus in the ear is not fully drained (because of the structure of the ear canal) and that could affect the person’s hearing.  To resolve the problem, tubes will have to be surgically placed in the ear to allow drainage. 

The doctor then requested for Nina to undergo several hearing tests so she could determine if tubes would be necessary in her case.  Fast forward months later, we realized that the tests were never done!  One was because hubs and I discussed that we should arrange for the test to be covered by our HMO but because the requesting doctor was not part of the network, we had to look for one that was.  But things started coming up and before we knew it, 5 months had already passed.  We returned to the first doctor and sadly that the infection was still there.  So now, the tests are imperative and urgent but I am still hoping for a miracle. 

Honestly, I don’t want Nina to have to go through any more operations.  I also know that the tubes in the ear can sometimes get clogged so it’s possible that the surgery isn’t just a one-time thing.  So while I’m scheduling appointments with an accredited doctor, I am also praying that the infection dies down and that the doctors will see that there really is no need for tubes to be placed in her ears.  Will you join me in praying for that please?

We're Getting There

It's been almost a month since Nina started with her speech therapy classes, and I must say that she's doing a pretty good job.  Initially, she used up the 1-hour session crying over the fact that she wasn't allowed to either nurse from me or because neither I nor her Yaya would carry her.  This afternoon, she barely even noticed that we had left her alone in the room with her teacher.  That's progress as far as I am concerned.


She's also begun to say a lot more words.  The teacher proudly told me this afternoon that the words "apple" and "cup" were very clear when she was asked to repeat them.  The other week, we were so proud of her because when she saw us open the cake box from my sister's birthday, she said "Wow, cake!" and it was VERY clear!  That to us, is yet another answered prayer, another miracle.


Of course, it's still a long way to go for us and I know it wont be easy.  But with the determination that this little girl has, I know that we will get there, slowly but surely.

Challenges and Blessings

2012 appears to be a very challenging year for us but so far, all signs show that no matter what happens, everything will work out somehow.

Janina has been attending speech therapy classes especially since she’s very much delayed on this aspect. The pediatrician also told us that she appears to have verbal apraxia.  According to www.apraxia-kids.org, Childhood Apraxia of Speech is a motor speech disorder. For reasons not yet fully understood, children with apraxia of speech have great difficulty planning and producing the precise, highly refined and specific series of movements of the tongue, lips, jaw and palate that are necessary for intelligible speech. The root word "praxis" means planned movement. To some degree or another, a child with the diagnosis of apraxia of speech has difficulty programming and planning speech movements. Apraxia of speech is a specific speech disorder.

One of the challenging aspects of her attending speech therapy is actually the cost as a one hour session costs PhP 700.00 or approximately $16.00.  We meet the therapist twice a week so that’s roughly around P5,600.00 or $127.00 a month. On top of that, her big brother will be going to the big school by next school year and because we value quality education, we opted for a school whose tuition fee does not exactly cost peanuts.  So far, we’ve been able to make ends meet and I know that with His grace, we will survive the year. 

Inspite of these challenges, we have so much to be thankful for.  When Janina was born, she was diagnosed with PDA and ASD.  Simply put, the doctors found that her heart had a hole which they hoped would eventually close by itself.  Recently, the pediatrician noticed that Kuya’s chest seemed to be getting bigger, somewhat like that of a pigeon’s and she also noticed he had a heart murmur.  So we brought the two to the cardiologist (especially since it was time for Janina to have a follow up check-up).  The doctor recommended that they both get an ECG as well as a 2D Echo.  Upon hearing those words, my mind starts computing costs once again particularly because we  were advised that these would not be covered by the health insurance because they fall under congenital conditions.  But again, we tell ourselves that the most important thing is still the health of our kids and we go on with the procedures for both. 

When the ECG was done, the pedia said that everything seemed to be okay (breath of relief) but that she wanted to have the 2D Echo done just to be sure.  Today, we had the 2D echo done for both and amazingly, both of them have been issued with a clean bill of heart-health!  Praise God!!!  I’ve been praying and praying over this and I’m so glad that our prayers were answered.  My heart and my mind tell me that our answered prayers are all with the help of Mama Mary.  Maybe it’s because I am now reading the third installment of Mama Mary and Her Children by Fr. James B. Reuter, or maybe because while we were waiting for our turn to have the 2D echo, who talked to me about Mama Mary, the Bible and all the conversions he heard about. 

Yes indeed, it’s another Mama Mary miracle for me and I’m sure that there will be more to come :)

The Year 2011 in Review

2011 was a big year for Nina and for us as well.  Having recovered well from her 1^st Cranial Vault last year, the doctors set the date for her syndactyly release.  The date was finally set for June 7^th at 7am and so we were admitted at Cardinal Santos Medical Center the day before.  Her first operation was done at the PGH but because Dr. Teng Castillo (the plastic surgeon/hand doctor) whom Dr. Bernie Tansipek would be working with was no longer affiliated with PGH, the surgery had to be done in Cardinal Santos.

I would say that one of the hardest things for us was the fasting requirement prior to the surgery.  Because Nina is breastfed, she is used to latching on to me in the evenings.  I’ve become her evening pacifier so to speak.  Fasting for surgeries usually require that a patient does not take any liquid for something like 10 hours before the surgery!  But we were lucky the anesthesiologist was considerate and allowed her to take in BM up to 6 hours before.  After the 6^th hour, hubs and I switched places with him sleeping beside Nina and me sleeping on the bunk so that she wouldn’t look for me.  Thank God we survived that night with little crying.  Maybe I should try and see if I can still teach her to take in the pacifier even at this age because I know that as she grows older, this fasting thing will prove to be even more difficult.

Apart from her surgery, one of the biggest obstacles we had were bouts with pneumonia.  We almost spent Christmas eve in the hospital because of that.  Thankfully, our pedia allowed us to go home with strict instructions for her to be nebulized every 3 hours and that she was in no way to engage in any strenuous play.  It was a challenge but it was definitely better than spending Christmas eve in the hospital.  I’m so wary of her getting coughs and colds these days simply because I’m always afraid that it might turn into pneumonia again.

On a positive note, our biggest blessing this year (apart from having one another) was Nina’s incredible development from being assessed with Global Developmental Delay to only having Speech Delay in a matter of 6 months without any therapy whatsoever.  A miracle indeed!  Another blessing was the fact that we were able to overcome the many unexpected expenses we had this year – most especially the surgeries.  Hubs and I are both blessed with jobs but even with our incomes combined, it’s a miracle that we even manage to get by.  Of course, credit goes to our family members who generously help us out during these times.  So glad to have a wonderful support system and a loving family behind us.

To summarize the year, 2011 was a big challenge for the family, but with God’s grace, we were able to overcome every obstacle, hand in hand with humbled hearts and smiles on our faces.  We know that 2012 will be an even better year with the love of God, our family and friends.  Merry Christmas and a Blessed 2012 everyone! Here's wishing that you feel loved and blessed every moment of 2012!

Answered Prayers!

Six months ago, Janina's pediatrician, who also happens to be a Developmental Pediatrician suggested that she undergo a Developmental Assessment to find out which areas we would need to focus on in terms of therapy.  At that time, her scores showed that she was functioning like a 10month old child over-all and not like an 18month old.  Her weak areas were Hearing and Speech - particularly the Expressive side (where she was merely like a 6month old baby); the Eye-Hand Coordination (she hadn't had the syndactyly release yet); and on the Performance  Scales.  Because she scored low on 3 scales, the was considered to have Global Developmental Delay.  The pedia suggested that we go back to the Occupational Therapist so that the home activities created for us would focus more on developing her weaknesses.

The truth was, we were never able to go back to the OT.  First Janina had her hand surgery and the wounds needed to heal first.  Then we got busy, then the therapist got married and went on her honeymoon... and then it was time to go back for another assessment.

Imagine our surprise this morning when she got good scores on all scales except on the Hearing and Speech Scales!  Even her doctor was happy about it.

So although Janina understands our conversations with her, she really has difficulty in forming the sounds that would make her words audible.  She tries, and she tries very hard.  But to us, all her sounds come out the same.

The doctor says that it's possible that she may have Speech Apraxia - which according to Google is a motor speech disorder where children have problems saying sounds, syllables and words.  The muscles themselves are not the problem, its the area of the brain that tells the muscles how to move and what to do to make a particular sound or series of sounds that is either damaged or not fully developed.

When Janina was born and her sutures had not been opened up yet, we distinctly remember being told that from the MRI and CT Scans, it appeared that the portion of her brain that was compressed by the lack of space was the portion of the brain that affected speech.  That explains everything.

Of course, therapy will be next on our agenda and our Pedia referred us to someone whom she feels will be able to help Janina "learn" how to make the correct sounds.

For the meantime, we are still jubilant at her miraculous developmental growth.  I'm sure that will all the prayers coming her way, the Lord and Mama Mary listened and made sure that she would be a living testament to the healing powers of prayer.