Our Journey

I'd like to share some quotes that, in my opinion, touch close to home.

We have no right to ask when sorrow comes, "Why did this happen to me?" unless we ask the same question for every moment of happiness that comes our way. ~Author Unknown

I know God will not give me anything I can't handle. I just wish that He didn't trust me so much. ~Mother Teresa

Life with Nicholas is never dull, that's for sure!! Since our last post, we have been on a bit of a roller coaster but I'm happy to report more positive than not!

From a physical standpoint, Nicholas continues to have difficulties supporting his head & has little neck control. However he is doing very well from a PT standpoint. Both Suzanne & Lisa, continue to see Nicholas participate more in his therapy sessions by providing more work on his part than our theirs. He is also very strong in other areas like his arms/legs/back & they also noted that it takes a lot less time to calm Nicholas down when his body/brain are in overdrive mode which happens often during his sessions. The pediatric palliative care program Nick's in, are the best around!! From our PT group, nurses, social & spiritual workers; they all share such a great bond for our son & our family & provide such great care & love, we are truly blessed.

In early September, Nicholas had another great appt with his neurologist so we talked about lowering 1 of his seizure medications by .5ml. Within hours of lowering the first dose, we saw some fogginess/drowsiness lift from his eyes. After 3 days of keeping him at this lowered dose, we unfortunately began seeing seizures. It may sound crazy but I can see it in his eyes that he's begging for it to stop. I feel like he's looking at me & saying "mommy please make it stop" All the while, the only thing you can do is hold him tight & ride it out with him. I'll be honest, I had forgotten how much of a toll witnessing something like this can take on all of the people involved. So we're back up to the original dose & within about a week, finally had the seizures back under control!! Thank God!!! We haven't given up hope that we can accomplish our goal/hope of lowering his medications & seeing NO seizures.

Shortly before I went back to work, I had the honor of meeting with an Integrative MD out in Massachusetts by the name of Dr Mark Hyman. Due to patient load & increased traveling, he has not taken on any new patients in year. However after looking at the baby's history, he so graciously welcomed us into his practice. I cannot tell you the renewed excitement I feel after meeting with him. It's like he gets what I've been trying to say all along. Given his medical background & training coupled with his non-conventional thinking/approaches, I believe we have found another missing puzzle piece in our mission to provide the best quality of life & care for our son!!! We are in the process of gathering the samples needed to send out lab work so that they can move forward with helping our son & customizing a plan that is right for him from both a nutritional & supplemental standpoint. Our first course of treatment as we wait for the lab work to come back is to help heal our son's gut. Essentially, his stomach has yeast & bacteria that are fermenting within. This ultimately causes a lot of abdominal discomfort for the baby not to mention difficulty when having to go to the bathroom. Because his body is having to compensate for the 'buildup' in his tummy, he exerts WAY more energy than needed when having to poop. Since the energy produced in his body really keeps his vital organs functioning, we believe its critical to find ways to reduce/eliminate wasted energy!! So keeping fingers/toes & every body part crossed, we found the right guy to get us there!!

Guess that all the updates I really have for now but will post again once we hear back from the doctor about the baby's labs. Thank you again for the amazing support, love & kindness you send our way each & every day!!!

Updates

It's been a significant amount of time since our last entry & for that we truly apologize. It has always been our intent to keep this journal updated so that all of the amazing people who are supporting our son, have the ability to stay connected with this progress. We are truly thankful to have you in our corner.

A lot has taken place since our last entry so I better get started. We spent nearly 2 months recovering from Nick's surgery back in April. Aside from a few minor hiccups, Nick managed to stay strong & heal fairly quickly given his medical condition & a few pulls of the new tube which sent us to the ER a few times. In June, I traveled to Scottsdale AZ to attend a UMDF sponsored seminar that hosted a series of vendors, geneticists, researchers & doctors who are trained solely in Mitochondrial & Genetics medicine. I was lucky enough to have the support of my brother, who also attended with me. I'm happy to have attended but was hoping to gain a lot more information from this event. For the most part, the information being shared was 'introductory" which shows that WE are as educated as the professionals who are studying Mitochondrial Disorders & the 40+ diseases associated to. Sad part, is that there is nothing new to share from a medical perspective. They spoke openly about needing more active participation in clinical research trials & we would strongly consider taking part in some when it pertains to Nick's specific condition. Right now, the trials are more focused on Co-Q10 studies & MELAS (a disease associated to Mito). I was amazed at how many adults who are afflicted with a Mito Disorder, that were in attendance. The few parents that we were lucky enough to meet are still struggling through their diagnosis phase, some as long as 2+years. It made me stop to realize how fortunate we are to at least 'know' what we are up against. My heart just pours out to those parents who are walking this long journey to a diagnosis.

In talking with everyone, it continues to surprise me how little is actually known about these disorders, both from a professional & overall awareness. Which is why I'm considering organizing a Charity Walk-A-Thon in our area. I have already spoken to a UMDF coordinator & have the tools to get started. It's roughly an 8-9 month planning process. As much as I know that I'm in waaaaayyy over my head with all that we have going on, I also understand the critical urgency to bring National Attention & a name to so many hundreds of thousands who suffer.

After a long series of conversations, Nick & I decided that we wanted to give stem cells another try so in July we decided to head down for another round. Nick did such a wonderful job traveling 11 hrs to & from (not counting delays) & was a total rock star when having the procedure done. We were able to meet so many wonderful people on this trip who share in our struggles as parents with atypical children who have no hope/cure for their specific medical condition. We are hopeful that this can help our son & provide him with a better quality of life & after meeting with some of the kids, it gave us a renewed hope that miracles continue to happen every single day. Connor(7), Luca (5), Wyatt (4) & Hannah (8) are amazingly beautiful spirits with infectious smiles that we had the honor of meeting. When we first started researching alternative treatments, we read about both Hannah & Luca's successes with stem cell treatments. Hannah suffers from Lenox Gasteau (sp), which essentially welcomed well over 100 different seizures daily & left her in a near vegetative state. She has gone for 4 treatments & is a testament of how stem cells can help. Hannah has full mobility now, walks/talks/acts like a typical girl & only experiences a handful of seizures now a month. She has also gone from 10 different seizure meds to 2 (and at much lower doses). Prior to his treatment, we received word from our Neuro Doc that Nick's seizure activity was maintained but that he still has the tendency to have seizures (given his condition). Nick & I had talked about lowering his medications to see if we can possibly lower/remove some meds completely. In doing so, we strongly believe we will see more of our son come out after so I look forward to talking with Hannah's mom on her approach taken to lower Hannah's meds so that we may be able to walk a similar path. We've seen some small changes with Nick since the treatment, more animation, more coos/cahs, better eye control & focus.

On one last note, I'm happy to report that I'm taking time away from work to spend with Nicholas. I've completed the first 4 out of the 12 planned weeks I'll be off. It's crazy how quickly time passes. I have absolutely loved & cherished each breath with my son (: Every time I look at him, I'm reminded of how blessed I truly am to have such an amazing & loving angel by my side.

We thank all of you for your continued support, prayers & love. Because without each of you, we would be LOST!! With all of our love, The Torpey Family

Successful Surgery!

Well, Nicky is at home safe and sound! In fact, he was a champ! The surgery was about 45 minutes, instead of 2 1/2 hours, and he was able to breath with out assistance almost immediately following surgery. Nicky's Doctor was the coolest, and it was a major relief when he returned to let us know everything was fine. We know that someone, up there, is looking after our little boy for us!!

The past week has been great. We can tell that Nick is more comfortable, and he is over the pain from the surgery. He also seems to be much more relaxed, and we were told this is because he is not in a constant defense mode from the tube that was previously down his throat. We pray that we will see more benefit from this surgery, such as better breathing and more of an urge to eat, but we have learned to be grateful and celebrate anything positive. Him being more comfortable is enough for me, and I thank God.

We had a lot of support through the experience and we can not put into words how important it is to us.

It would have been a lot more difficult if we did not have Mom, Mom & Dad Ruhana, and Jimmy, there before and during the surgery. It means the world to us. We also appreciate Uncle Shaun, Dad, Grandma Theophanous, Uncle Frank and Aunt Robin, and Aunt Bonnie for visiting.

I want to say a special thanks to my Aunt Kathy, who stayed with him at the hospital for a couple hours each night so we could run home for a shower! Thanks again Aunt Kathy!

Nick has also had some visitors since he has been home, and I just wanted to thank you for taking the time to see him.

The wonderful support system and love around our little boy is helping him fight! We will keep you posted on Nicky's progress and as I said before, my boy is resilient. He is a Torpey, and he is strong!!!!

14 Months Old

We're happy to say that Nick is as lovable, stubborn, charismatic & adorable as ever!! He is doing good & responding well to his physical therapy sessions with Suzanne & Lisa, not to mention with grandma & grandpa too :) He is getting long & chubby (or pleasantly plumb as mamma calls it) , so Kris says we need to cut back on his calories. He seems to be responding well to that as he's lost a few oz & is now at 21.3....Nick continues to show no signs of seizures & we're considering asking the doctor to lower his medications to see how he responds. Unfortunately, our lil man does not really want to eat. He will take a few spoonfuls a day but isn't interested in any more than that. We know when he's had enough when he shuts his lips tightly down!!!! We're actually taking in him for surgery tomorrow to place the G-tube through his tummy. The feeding tubes we've been using since Nick got sick were only a temporary solution. I'm scared to death but know that God is with our son & will protect him & the doctors & nurses who are responsible for his care. When we laid him down to bed tonight, I couldn't help but squeeze him tighter & longer than I normally do each night. This lil guy has such an amazingly beautiful, strong, courageous, loving soul. I cannot tell you how honored I am to be his mom. My son has taught me so much in his 14 months of life, more than I ever knew possible. I pray that tomorrow he fights with the same tenacity his shows us every day & recovers quickly from his surgery. We'll keep you posted with how everything goes once things get settled back at home. We are truly blessed to have such an amazing circle of support & love from all of our friends, family, community & church. We thank all of you for your prayers & love. Jenn

Nicky Update

Hello Everyone,

It has been a long time since our last post, so we wanted to update everyone on how Nick is doing!

Over all, things are going well with Nicky and we are happy with his progress. His first birthday party was great, and it is hard to believe he is already one year old! He has been very busy lately, and we are very proud of him!

We recently met with a pediatric cardiologist and ophthalmologist for two critical examinations. The first is his eye exam. It went well for the most part and we will see the doctor again in six months. The second important annual exam is the cardiologist. This is because his condition can cause problems with his heart. Well, we were beyond thrilled to find that his heart is perfectly normal. After all of his challenges, our little man deserves to have something that works perfect. Did I mention how proud we are of him?

We were also able to go on vacation last month in Orlando. We were with Grandpa and Grandma Ruhana, Uncle Jimmy, Aunt Lori, and Cousin Colson. We are sure glad that we did because Nicky did great! He was calm on the plane, and it turns out he is very responsive to fresh air and warm weather. There was a noticeable improvement in his energy level and his physical therapy for the whole week was great. One night, he held his head up for over 30 minutes which is a major accomplishment for him! We were also happy to find that the swimming pool relaxed him. He slept well and we think the swimming pool helped. Although he had a good week, he gave us a scare on the last day.

Nick woke up around 3:30 on Friday and was coughing a lot and uncomfortable. After speaking with his nurse, we learned that Nicky's throat is getting irritated by the feeding tube, which leads to his resistance to swallow his saliva. This causes the coughing. So, we have decided it is time to remove the feeding tube from Nicky's nose for a more comfortable solution. Our support system suggests that a tube be surgically inserted into Nicky's stomach, which is what will be used for his food. We met with the Doctor this week for a consultation, and he feels this is our best and most comfortable solution for Nick at this time. We are planning the surgery for next month. This does not mean we are giving up hope that Nick will eat again one day, and in fact, he eat a good portion of his rice cereal with his Grandma this week. It is just the best solution to protect his air way right now.

The procedure will not be easy for Nicky and the poor little guy will be in the hospital for three nights. The surgery will also postpone Nicky's next experimental treatment until July, but we feel he is stable and have made the decision that this procedure must take precedence over anything else right now.

I've said before that we can never take for granted that Nicky is breathing. His breathing is strong and he is consistently at 100% oxygen. The doctor thinks that removing the feeding tube will help his breathing and eating as well.

The seizures are still under control, but Nick has something we do not liked called "involuntary muscle movements". These are movements are where Nicky will randomly flinch. They really set him back, but we always know that we must be grateful that he is not having the same seizure he used to have last year that would last for 10 minutes. Thank you God and please keep protecting him.

Nick's physical therapy has REALLY been great and as I mentioned earlier he will still eat from a spoon and swallow once in a while. His Grandma Ruhana is best at getting him to eat consistently and I hope she knows how much we appreciate all of the effort!

He has certainly gained a lot of weight. Nick is over 20 pounds now! We have to watch his weight and diet very closely, and Nurse Kris is happy with his progress right now!

It is a miracle in its self that we celebrated Nicky's first birthday and we thank God every day. Time and time again, our family and friends have told us that love and prayer would help Nicky and now we know that it is. Thanks to everyone!

Happy 1st Birthday Nicky

Hello everyone,

Well, Nick did it! He reached a major milestone by turning one today, and we celebrated with two great birthday parties. He received wonderful gifts, including a lot of summer clothes for our trip to Florida next month. He will be the best dressed little man in Orlando! He finished today by showing off with great head control and eye contact before falling asleep tonight!

It is a wonderful feeling to celebrate his first birthday. He is getting big and growing fast. We are enjoying every moment. We are blessed right now and God is taking care of our little boy!

The New Year

Happy New Year!

January was a great month. We celebrated New Year's Eve with a nice dinner while Grandma watched little Nicky, and returned home early enough to ring in the New Year with him.

We are delighted that he is still seizure free, and gaining a lot of weight! The little guy is 19.3 pounds! As I think back to August, he was only 11 pounds. In fact, Nurse Kris may put him on a baby diet because he isn't able to burn enough calories. So, Father and Son may have the same New Year's resolution of getting in to shape!

We are also happy to say that Nick is now 11 months old and we are already planning his 1st birthday party! His Birthday is February 21st, but we think his party will be on the 20th. We are going to have a huge party for him! After all, Nick is doing well and we have a lot to celebrate!

The prayers are helping, and we are thankful every day for the support from every one.

A few weeks ago, I was working at home while Nicky was laying on a blanket. He was laying on his stomach, and I would look over at him every couple minutes to see what he was doing. Well, twice, he rolled over to his back! It was exciting! He still has a long way to go, but we are thankful for every day and that he has the opportunity to work with great therapists. His Grandma and Grandpa do a good job with his Physical Therapy too, and it is showing. It is hard for him because he is always very tired from the medication and the illness, but he moves a lot more than he did just a few months ago.

Nick is also still very vocal and can really express discomfort; he has is own little way of crying. We have heard it a lot lately because he now has two little teeth showing!

He is not interested in eating from a bottle, but we are able to get Nick to eat from a spoon once in a while. It does not happen often, but we are very happy when it does!

He recently beat a pretty bad cold. We saw it as a great sign that his immune system is still working well!

Also, Nicky's breathing has been great and I always have to mention that we are most thankful for that.

Nick had his monthly neurologist appointment a few weeks ago, and the Doctor thought he was doing so well that he does not need to see him for another four months.

We are still doing a lot of different things to help Nick. He is taking several supplements, which among other things help his digestive system and strength. We are also considering another treatment in the summer, and also the possibility of more frequent physical therapy appointments. The fact that he is stable enough for us to consider adding more therapy is a blessing.

All and all, we are happy with his progress. It has been a great start to the year. Good luck to everyone in 2010!