The letter below is something I wrote in June, 2004, when Jake was 8 months old. It was written 2 months after his diagnosis (If I'm remembering right, it's the letter I used to introduce Mike, Jake and I to the PKS support group). Putting thoughts on paper has been very therapuetic. Jake has come a long way since 2004, and so have we, but the the letter will give you a sense of what we knew then.
My husband and I are first time parents. I'm 30 years old and my husband is 36. My pregnancy was perfect - we did everything right and we were told we had nothing to worry about. Every sonogram indicated a healthy baby boy - just a big boy.
My son, Jake, is almost 10 months old. The night he was born (full term at 39 weeks), his APGAR scores were almost perfect (9 and 10). We spent the next 12 hours thinking our dream had come true - we had a perfectly healthy baby boy. The only “issue” we knew about was that the foreskin around his penis didn’t fully develop and he had something called Cordi (the skin was tight and bending the penis downward). The doctor said we had nothing to worry about – Jake would just have to wait to be circumcised at six months old. Everything changed the next morning when he was transferred to the NICU (in a different hospital) where he spent the next 18 days.
The pediatrician that requested the transfer initially noted only 2 things that concerned her – a cleft palate (ends up it wasn’t cleft – it was just high arching) and a large fontanelle. Once he arrived in the NICU, he was poked and prodded and picked apart. They began to list his anomalies: low muscle tone, eyes slightly far apart, ears low-set, accessory nipples, sacral dimple, high arched palate, cleft uvula, rectum close to scrotum, a weak cry. Jake’s suck was also weak so they had to start him on a feeding tube – he just wasn’t eating on his own. At a week old, we had an OT come to work with us to help him suck. He wasn’t released from the hospital until he began feeding on his own and gaining weight. When released, we had a list of follow-ups with specialists as we were told there is "something" there. They just couldn't figure it out.
During his hospital stay he was tested for just about everything. He had sonograms, blood tests, MRI/MRS, x-rays, hearing tests, etc. "Everything" came back normal with the exception of the hearing test. Jake has mixed hearing loss in both ears (both conductive and sensory-neural). He was fitted with hearing aids when he was 3 months old. They really changed his world. Prior to being aided, Jake pretty much slept all day. Since the aids he is so much more alert and over the past few months he’s become so much more responsive (from an auditory perspective). He smiles and makes himself laugh by playing with his own voice. He’s very vocal – all vowel sounds, but vocal nonetheless. He also responds to our voices. The therapists always note how his eyes turn toward my voice.
When Jake was about 5 months old, he began doing a downward eye deviation which could be indicative of seizures. We also noticed a patch of skin above his right eye that had no pigment. This provoked a new round of testing (renal sonogram, EEG, MRI/MRS, skin biopsy). Our geneticist remembered reading something about PKS and seizures and after researching more about the syndrome, he realized Jake had many symptoms. His EEG did not show any seizure activity. His MRI/MRS showed an increase in fluid around the brain (something we have to monitor as his head keeps growing outside the curve – he is now being followed by a neurosurgeon) and his brain structure showed abnormalities suggestive of polymicrogyria. Finally, the skin biopsy came back positive for PKS (he was almost 6 months old when diagnosed). We were devastated to say the least, but we actually found some peace in finally having a diagnosis. I think I had my first truly happy moment with Jake about 2 weeks after he was diagnosed. I was kissing his cheeks and he couldn’t stop smiling and giggling. I found myself laughing too. It was the first time in his life that I didn’t feel a deep sadness behind my love. It felt pure for the first time.
When Jake was 8 months old, he started occasionally moving his arms in a rhythmic, stiffening pattern. It didn’t seem like a normal movement – it was sort of a jerk. The day he had 8 of these stiffening “episodes” in a 5 hour period, the neurologist suspected seizures and admitted Jake to the hospital. He was started on Phenobarbital (initial hospital dose via IV – now he takes 6mls in the morning and at night). He also had his second EEG. Although he had one of these “episodes” during the EEG, the results still didn’t show any evidence of seizures. Since then, these movements have ceased which leads us to believe they were some form of a seizure. The neurologist thinks they just may not be stemming from the brain as his demeanor remains unaffected while he’s having an “episode”. You could also stop the “episode” by grabbing his arm. He’s still taking the medication, but as he outgrows his current dose, the neurologist will try to wean him off. If the episodes return, he will be re-admitted to the hospital for a 24-48 hour video EEG.
When you read about PKS, you don’t see a pretty picture of the future. We have learned to live in the present….to be thankful for all the little things….to appreciate every smile and every accomplishment – big or small. We were fortunate that Early Intervention services began immediately upon his release from the hospital. He started with PT 1x per week and Special Ed services were added a month or so later. Since then, PT has increased to 4x per week and he was just evaluated to begin receiving OT 2x per week. It has also been recommended that we switch to a Special Ed teacher who is certified in vision services. We know his eyes can see (he’s been seen by 2 different Ophthalmologists), but we’re not sure his brain is processing everything he is seeing. He does track faces and toys, but he is inconsistent. He also doesn’t show visual recognition when looking at us. We’re hoping this will improve in time. Speech therapy will also be added in the near future.
We’re so thankful for Early Intervention. I strongly believe that Jake’s progress is a result of what they do with him and what they taught me to do with him. We’ve learned to enjoy him and I never thought that would be possible. He’s such a happy baby. He started responsively smiling at 4 ½ months and since then, he hasn’t missed a day. He began giggling (when tickled or kissed) at 5 ½ months and soon thereafter began making himself laugh. He started rolling from his back to his right side at 6 ½ months. Now he does this all day. He started on solid stage 1 baby foods at 6 months. He definitely likes his food! He also started bringing his hands to his mouth at this time (only while lying on his back). Now we can’t keep his thumb or fingers out of his mouth whether laying down or sitting up! At 7 months, he pushed off my lap with his feet for the first time. Before this he would never put any weight on his feet. Now he’s able to lock his knees and hold his weight for 10-20 seconds at a time (that’s with me holding most of his weight, of course). He still doesn’t have full head or truck control, but we are continuing to see progress in this area as well.
Jake loves to lie on his back – it’s his favorite position and it’s where he’s the most vocal. He loves to roll from his back to his right side (we’re trying to work on the left!). He smiles or giggles when tickled or kissed, and when he hears “fun” noises (squeaky toys, his dad’s whistle, and occasionally, our voices). He loves his hands – we can’t get his thumb or fingers out of his mouth.
Although we don’t know what the future will hold, we do know we love Jake more than anything and we are committed to helping him be the best he can be. We may not know why, but we know that we were blessed with an angel and we will cherish every moment of our lives with him.
Fast forward to July 2007, two months shy of Jake's 4th birthday.....
When I re-read what I wrote back then, I can't believe how far Jake has come AND how far we have come! I remember how I would cry for days on end. People would tell me "it will get better in time". I didn't believe it back then, but I now know that they were right. As each day passed, I grew more and more in love with Jake. I began to forget how hard it was to care for him (it just became our way of life). I began to focus on all the good things. Every smile, every giggle, every sign (he signs for eat and drink!!) and every other little milestone as time went on. Now, I just couldn't imagine my life without him! It's not to say that I never have a bad day or a day where I allow myself to be frustrated or upset, but these days are few and far between.
Mike and I just feel like the luckiest parents in the world to be blessed with an angel on earth! Jake is here for a reason. I see it all the time - he changes people. People hear his story and see how hard he works each and every day and it helps put things in perspective. Jake simply radiates "PURE UNCONDITIONAL LOVE " in every sense of the phrase. People love being around him - touching him, holding his hand, seeing him smile! His teachers, therapists and aides in school say they can't go anywhere with him without someone stopping to say hello or give him a kiss!!
I love Jake with all my heart and just know there are endless possibilities for him. There is so much more that he will accomplish - it will just be on his terms at his own pace!
Check out Jake's photo page to see him smile --- I guarantee it will make you smile too!
Check out his milestone page --- it will make you appreciate every little accomplishment!
Check out his video page --- there is nothing like seeing this little boy run his butt off!!