Another Surgery and 22Q Clinic

Surgery #2:


Well, unfortunately, Grant had to have yet another surgery. And worse, it was 2 days after having his first one. As a refresh, he had surgery on the 27th for Bilateral Inguinal Hernia Repair (basically hernia repair of the groin). On Sunday the 29th, I noticed something wrong with his scrotum and called the surgery department immediately. The surgeon who did his hernia operation called me back and said to come to the ER at Children's. After a long while, and an ultrasound to determine the problem, they assumed it was a testicle torsion since they did not see any blood flow. However, during the operation, the surgeon came to us with a problem. He explained that it was not a torsion but that the testis was black and seemed unviable but he wasn't entirely sure. He gave us the option to decide to keep it or remove it. If kept, it could potentially cause serious risk of infection and may compromise the other testis along with infecting his body. Under his condition (22Q), we decided it was not worth the risk of infection. It was not an easy decision to make and we had very short time to make it since Grant was still on the operation table. So end result, he had a Left Orchiectomy and Right Orchiopexy (in other words, removed the left testis and secured the right one to prevent future problems). The surgeon said the cause of the situation may have been from some type of trauma to the testis during the hernia operation. He seemed very disappointed and I asked him why he's not so "pumped up" as he said the other day...his response: "I'm actually really sad. No one likes to have to take the boys or one of them away". He was genuinely discouraged and upset. 


During our stay, his former genetics doctor came to see us because he is concerned Grant is not gaining enough weight (he's less than a pound in 5 weeks - he's 6lbs / 3oz now and was 5lbs / 4 oz at birth) ) and was considering keeping us to put in a GI tube (feeding tube) which would entail yet another surgery and hospitalization. Fortunately, I keep a log of his "ins and outs" and proved that he is getting 16-20 ounces per day...Which is what he should be receiving....And that we just increased his diet by fortifying or supplementing with high calorie formula on top of breast milk. We also touched on the fact that now he had two surgeries which had set him back on feedings for over a half a day each. In conclusion, he decided the GI tube would be pointless for now. He said to get a weight check this week and then the next on the same day and on the same scale, then report back with his weight to see what we need to do going forward. We were discharged with much lack of sleep and lots of stress.




22Q Clinic:
http://www.nationwidechildrens.org/22q11-deletion-syndrome


Today, we met with many doctors and staff that makes up a special "Team" of people who will overlook his care for the next 18 years. It was over four hours long and we met several different people. These were a few of the specialists we will see. There are more specialists we are scheduled to see at a later date.

1. First was the case worker for special needs to assist with resources and financial help.
2. Next was the Craniofacial / Plastic Surgeon who determines what his palate is like and what we need to do going forward. He said just because there is not a noticeable cleft palate doesn't necessarily mean there isn't one at all. Many can be hidden. However and fortunately, he does not have one!!! He also explained that 75% of 22Q patients have speech problems due to velopharyngeal dysfunction (VPD).  VPD (also referred to as velopharyngeal insufficiency, or VPI) usually manifests as abnormal nasal air escape and hyper nasal speech. Since this percentage is so high, early intervention in speech therapy is critical. Reading stories, singing songs, pronunciation in words, lots of communication, etc...are key things to use in his speech development. Most 22Q patients won't learn how to speak full words until they are between ages 3 and 5. If he has issues and appears to have the VPD or VPI, surgery can be done to improve his speech. This usually is assessed around age 5. If he has to have this surgery, we will more than likely have his Choanal Atresia repaired then (unless they need to do so sooner). We will meet yearly to assess.
3. Then we met with the geneticist who will oversee all of his care. She stressed her concerns about his weight and wants us to follow up with getting weekly weight checks. We will meet again at 6 months. 
4. We met his speech therapists and feeding consultant. They went over what we can do at home to improve his speech for his future. Then we went over what we are feeding him, how much he's getting, how long he's eating, what products we use to feed him and what we need to do when we start spoon feeding. We will meet again at 8 months.
5. Finally we met with the nurse who makes sure all our questions were answered and that we were informed of everything we need to do. 

In addition to learning a little more about 22Q and what we should expect, we learned that Dr. Kirshner (Craniofacial / Plastic Surgery) was formerly on the 22Q team in Philadelphia (the most known 22Q clinic in the nation) and was recruited to Columbus to work on establishing a 22Q clinic here. He did s,o and it has been an amazing success since March of 2011. He said they see patients nationwide and even internationally! 
They also informed us that there are many events coming up in the near future! Once I receive more info, I will post them on here to hopefully get you all involved as well! I am very excited about the events! I am also very pleased with the clinic and how easy they make this on us! Although it was a very long day, it was thoroughly informative and gave us hope toward our future ahead. 


Update on Neurology:

I failed to mention the other day that the neurologist gave us an indication of what the tremor like convulsions could be....she called it "Benign Sleep Myoclonus of Infancy". She said she expects Grant will have fewer episodes and will eventually "outgrow" these movements. She clarified that she doesn't see anything "spooky-wooky" since his "premature" size runs in line with the EEG results. If we feel there are any concerns, we can contact them if there is a significant change or new type of abnormal movement of concern. Otherwise, no follow ups are needed. 




Sorry this was so long....there were many things that happened at once and I hadn't a chance to update the Blog so its all in here... 


Thank you again for all your prayers, love and support. I say it every time and mean it whole heartily. 


Love and blessings,
The Loechler Family 

Neurology and Surgery...

NEUROLOGY:
On Thursday, January 26th, Grant had an appointment to see the Neurologists regarding his EEG that had an "abnormal" reading. They clarified that seizures do not appear to be a problem. Although his EEG results were classified as "abnormal", after the neurologist physically examined Grant, she feels that the EEG results are in line with his premature development. She reassured us that she felt there was no alarming issues and that we will not have to follow up unless we notice any new issues.

SURGERY:
On Friday, January 27th, we had to be at Children's at 6 am for Grant's double hernia surgery in the groin. He was not allowed any milk after 4 am and surgery was to begin around 8 am. I was very worried he would be cranky due to hunger. However, our little trooper was an absolute angel! He was very calm and relaxed. This really helped me to be calm and feel at peace. They took him back after 8 am and after about an hour and a half, they came out to tell us he did very well! The concern was whether they would have to take the "family jewels" and the doctor assured us that they did not!!! In fact, his exact words were, "The boys are still in the hood"!!! And then he said he's "pumped up"! He was a very funny surgeon! 


We had to wait till he was out of recovery for another hour before he was in his room. Around noon, we were sent up..which, by the way, was super nice! They have built on to the hospital and it was very updated and accommodating! 


Grant was on oxygen for a little while and his heart rate was fast. After a while he was able to stabilize and no longer had to be on oxygen. It took a while for him to want to eat. Once the evening came, he was one hungry little fellow! He kept us up all night with feedings and diapering. In addition, the alarms on his monitor kept ringing and this kept us awake and concerned. His oxygen was lowering and his heart rate fluctuated. They indicated that if he has to go back on oxygen then he wouldn't be discharged right away. Finally, they stabilized and we got a little rest. 


The ENT doctor came in to check on him and answered some of our questions. We know he doesn't have a cleft palate so we wondered why he is spitting up through his nose. He clarified that spitting through the nose isn't just a symptom of 22Q; it can also be caused from acid reflux. He wrote a script for Zantac to help with that. He did say that Grant may have a soft palate and it may or may not require surgery depending on how bad. We won't really know how it will affect him until he starts to develop and talk.


The team of doctors came by to check him out. He has two incisions that they stitched from the inside and then glued the outside. They said we can resume normal activity and then we were discharged! 


We are home now and were very pleased to find a clean nice home and groceries! Big huge thank you's to Mary Jo, Noelle, Payne, Eric and Kellye! We also got our new couch delivered so it makes coming home even more exciting! 


We greatly appreciate all of your prayers and support through this stressful time. 
Thank you and God Bless,
The Loechler Family

Update on Grant's Appointment with the Surgeon:

Grant had an appointment today with the surgeon to check the skin tag and dimple on his rectum. He said the skin tag may just heal on its own but he feels no concern about having it removed. Its not interfering with bowel movements so its no concern. The dimple needs re-assessed at a later date since his bottom has a rash and its to hard to determine if it will need surgery.  


Now for the bad news, he found two Groin Hernias and feels an urgency to have surgery on them soon...as in this Friday (2 days from now). I stressed my concerns about the fact that Grant has Choanal Atresia (blocked nasal passage) and wondered if we should have surgery on it at the same time and also that it could be risky putting him in surgery with respiratory issues. The doctor suggested we see the ENT specialist today or tomorrow instead of next Friday as scheduled. So, we saw the ENT doctor and they felt no need for surgery on his nose till he's older. He scoped his nostril to make sure the one passage was clear and it was. He also checked his palate and said it doesn't appear to be a cleft palate but we'll know for sure at the 22Q clinic. He looked at his head and was concerned about the soft spot. I inquired about his concerns and he said, "let's just see what the neurologists say"....not very comforting but I guess this is what we will expect for the rest of his life. 


As for the surgery...the doctor does want him admitted for a night, at the least, due to his size and respiratory issues. The ENT doctor will be on-call should a problem arise in surgery. He will be put under anesthesia...not sure for how long yet. He will do his best to"save the family jewels" which means if he has to take them, he will. I have not received a call as to what time sugary will be, however, they did state that the surgeon is on-call that day which means should an emergency happen, we will have to wait. This is not a good thing when they are asking an infant to not eat. HE WILL BE A CRANKY BOY no matter what. 


On a good note, he was weighed and has gained half a pound...he is 6 lbs 3 oz's!! Hooray!!! So there is no need for a feeding tube at this time. That doesn't mean he won't ever have one...it just means for now he is doing better and gaining weight! 




Please pray for us all for Friday. 


Thank you and God Bless,
The Loechler Family


PS -  His neurology appointment is tomorrow so we should hopefully have more insight about what the abnormal brain-wave activity meant on the EEG. More updates to come....

Birth - First Month

Grant Michael born December 26, 2011 at 1:39 am.

Weight: 5 pounds 4 ounces Height: 18 inches

I created this blog to keep up on Grant's progress and allow others to stay apprised through it all. This post will contain a lot of info since this is the start of it all. Going forward, I will just update as we go. 

For starters, I had been experiencing many problems during my pregnancy and had the "instinct" that something wasn't right. On Christmas day we went to the hospital due to complications and they ended up keeping me since his heart rate was decelerating...they said the cord is probably wrapped around his neck. They induced me and had me on oxygen. I came close to c-section because as my contractions got stronger his heart rate dropped substantially.

Finally, he decided to come...and fast! Knowing how it felt to push an 8 lb 8.1 oz baby out, I knew something wasn't right. I was nearly 38 weeks and he popped out like it was nothing. He was blue and very small. He wouldn't cry so the neonatal staff rushed in. After 35 minutes, he finally took his first breath. It was so terrifying. The umbilical cord was, in fact, wrapped around his neck...twice around neck and also around his should then under his arm. The cord was skinny and short. The doc said if we had not come in, Grant probably wouldn't have made it in there any longer. Doc also said he was concerned about the size of umbilical cord and our baby so he wanted to test the placenta and cord to see if that could give insight. 

Meanwhile, Grant struggled with breathing and had a hard time nursing. He spit up often...only it was through his nose. He had a few odd things that didn't add up about him so they took him back to Special Care (their version of NICU) to do some thorough testing. They found a murmur and had Children's come to do EKG...found VSD (hole in heart) and noticed his left nostril was clogged. So, the Neonatal Doc decided to send him to Childrens NICU for further testing including genetic testing. He thought he may have had a syndrome called CHARGE (a very rare disorder...1 in 10,000) 

At Children's, they ran many tests and asked thousands of questions. Had an MRI of brain (thought it was Encephalocele) and {Thank GOD} it was not...although, it is a choanal atresia (which means his bone in one nostril never opened) so they will have to do surgery at some point on it. They also did a MRI of spine because they saw a dimple in his lower back...nothing came up on that. They did ultrasound on Kidneys and found a medically insignificant cyst.  They ran blood work daily. His platelets were very low and he had a hard time stabilizing his temperature. 

After 4 long days in NICU (which happened to be New Year's Eve!), we were discharged and we celebrated happily! A few days later, we received a call from genetics...He has 22Q11.2 Deletion Syndrome (otherwise known as DiGeorge or VCFS. ~ We were thankful it wasn't CHARGE and that he didn't have Encephalocele. ~  On the other hand though, we were very distraught. We felt a ton of different emotions... "why us...we're good people...why is God punishing us...it isn't fair".  Then we sucked it up and realized he has been given to us for a reason. There is a purpose for him to be in our lives. Rather than focusing on his disabilities, we are focusing on his abilities and strengths. This "diagnosis" won't be the final word. We will overcome and fight with him every step of the way. We will focus on his God-given talents rather than defend his rights and focus on what he CAN do rather than what he CAN'T do. 


He will begin a journey of many doctor appointments and surgeries. He will be poked and pronged at. And it all begins now. Thankfully, most the appointments will take place in Children's Hospital. So far, here are the ones we have scheduled:

• He has a "skin tag" on his rectum and will determine if surgery is needed. 
• He has been experiencing tremor like convulsions and had an EEG. They saw "abnormal brain-wave activity" and the neurologists want to see him to evaluate, assess and possibly run more tests. 
• Children's has a clinic that specializes in 22Q. Here, they will evaluate, assess and run tests. He will see a Craniofacial Specialist to determine if he has cleft palate or any other facial features regarding this disorder. This clinic is available on Tuesdays and they offer nearly every type of medical specialist available to help minimize running to too many places. It makes it more convenient under the circumstances. 
• Help Me Grow will come to us to assess and evaluate our home and life-style; give us pointers on how to help him grow and develop.
• ENT will follow up on his choanal atresia. We will be inquiring about the nasal mucous that is seeping out of his "closed" nostril and out of his eyes. 
• Cardiology will run an EKG to check his heart. 
• Eye Clinic for further testing

Along with these visits, he will be getting weighed often. His pediatrician weighed him and he hasn't gained much. He was weighed on January 9th at 5 lbs 7.5 oz's and again on the 18th at 5 lbs 7 oz's. He lost half an ounce. His doctor is very worried about weight and that he really needs to gain. He is going down in percentile. So we were asked to supplement with high calorie formula. Originally we were alternating at breast then formula but he really disliked formula. We came up with a concoction (approved by docs) that consists of formula, breast milk and "Thick-It"...all mixed up and he seems to like it. This should hopefully create more fat and calories per feeding. If he continues to lose weight or not gain any, they will most likely put him on a feeding tube.

We are constantly praying for God to give us strength and courage. Praying for the doctors to not over-look anything and be on top (as they have been). Praying for Juliana (our oldest child) to understand and know we still love her even though all our attention is not focused on her all the time. Praying for Grant that he can continue to thrive and develop. 


We have had an over abundant amount of support and prayers from friends and family...even from people we haven't spoke to in ages. Its amazing how any people come together and help during extremely rough times. We truly appreciate everyone's continuous support, love, and prayer. 


Here are websites that they provided us regarding 22Q11.2 Deletion Syndrome:


http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome


http://www.22q.org/newly_diagnosed.php

http://www.chop.edu/service/22q-and-you-center/about-chromosome-22q112-deletion/