Help Us Help Nicky

Our Journey

2010-10-14T19:04:00.002-04:00

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

2010-08-18T18:29:00.004-04:00

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!

2010-04-30T18:45:00.007-04:00

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

2010-04-22T00:11:00.002-04:00

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

2010-03-27T11:23:00.005-04:00

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

2010-02-21T21:37:00.002-05:00

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

2010-01-31T18:39:00.002-05:00

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!

2009 Year in Review

2009-12-31T22:30:00.002-05:00

As I sit back & take a look at the ups & downs 2009 has brought us, I am reminded of the one constant in our lives that we are forever grateful for, our wonderful support system. Our family, friends, work & community have been alongside the highs & lows in 2009.

December was a great month. Nicholas helped decorate the Christmas Tree, met with Santa, celebrated Christmas with his loved ones. I am not lying when I say, I had 4 loads of laundry just from the clothes this little guy received on Xmas. He is one loved & blessed little boy. For Christmas, my son bought me a star in his name, Always Mommy's Monkey. If you can only imagine the kleenex that was used when opening this gift up. He is such an amazingly beautiful little boy. The baby is also making different noises now & can definitely show you when he's not happy ); Nicholas has also been doing very well in his PT. He is holding his head up for periods of time, responding well & building up good muscle tone. The other day, he actually rolled over on his own. We were beyond ecstatic at this accomplishment he made. We know our son is a fighter & it's evident in his every day life.

November was spent enjoying Thanksgiving with the entire family & to make it even better, my sister & her family came up from NC. We also were able to carry on the tradition of cutting our xmas tree down. Afterwards, we stopped at our stomping grounds for a bite to eat & a cup of soup to warm ourselves up. We continued to see growth & strength in Nicholas. We also started working with an Alternative Health Care Doctor who is helping our son with his diet & nutritional needs. Right now, Nicholas is on natural supplements for his liver, heart, kidneys, digestive system, cells & brain. We are seeing good improvements here & are hopeful that this is just another piece to our puzzle in healing our son. Our family hosted another fundraiser at Barrister House & we had another amazing turnout with over 400 people stopping by.

In October, we made the decision to have a stem cell treatment for the baby. The majority of our family traveled down with us for the 2 day stay. We all prayed that our son would see some improvement in his life from this treatment. We spent several months researching this alternative treatment & made the decision in late September to head down. We also had a lot of fun stopping by a few neighbor's houses on Halloween. I must admit, our son looked like the cutest Monkey I had ever seen. We also hosted our first fundraiser at Ikes where over 300 people came by to support our son. We are truly blessed to be surrounded by so many people who love us. Our family & friends helped put the fundraiser together & raised monies to help with our Hyberbaric Oxygen treatments & medical bills. In addition to all of this, we were also interviewed by our local news station. Rhonda Walker, an anchor on Channel 4, came over to interview our family. We thank her for providing our family with a forum to reach out to so many people who are not aware of Mitochondrial Disorders & more specifically to our son's condition, Leigh's Disease.

August was a very scary time for us. We had to rush our son to the hospital where he stayed for 13 days. He underwent several tests & procedures but stayed strong & fought throughout it all. After we brought him home, we spent a few more trips to the ER when the baby was seizing & was having troubles breathing. We made the decision to pursue Pallative Care through St John's Hospital. We have an amazing team of nurses, doctors & therapists. These people love our son & have built a life within our crazy world.

We spent the summer months celebrating birthdays of many loved ones, Fourth of July bbq's & celebrated Mothers & Fathers Day. We had good times throughout the summer watching our son grow & develop (: We also had fun in the late winter/spring celebrating my nephew & dad's birthdays. Monkey attended his first St Patty's Day party at his cousin Rachel's house. We had so much fun with the babies & family we were surrounded by. My sister came up with my nephew in March & we had a great time together.

February, is by far, the best month I've ever had. Though I was off of work & bed ridden for a few weeks leading up to Nick's birth, we were eager to meet this little man whose life was growing inside of me. On Saturday, February21st, the most amazing beautiful angel was born, Nicholas James. From the moment I laid my eyes on him, I fell in love so deeply. A love that I honestly cannot put into words. I have never felt a love this way before.

We have had our ups & downs in 2009. But what I'm grateful for is too long to list. But just to name a few, I'm grateful for my son, my marriage, my family, my friends, my health, my home, my job, my animals, peace in my heart & a stronger appreciation for man above. Because without him, my son would not be here. I choose to focus on the blessings I have in my life. Our lives are completely changed but the one thing that has stood the test of time, is the love of our amazing family. Without their support, we would be lost. Though 2009 is coming to an end, I am hopeful that 2010 will bring us forward progress, health & prosperity. I want to thank all of our loved ones for an amazing year, for the support given, for the sacrifices you've made to help us continue this fight for our beautiful son. God Bless all of you & here's to a Happy New Year!!

Merry Christmas!

2009-12-24T15:56:00.002-05:00

Merry Christmas to everyone!

As everyone knows, we go as Nicky goes, and he is doing great!

It has been a busy holiday season for Mr. Nick. First, he helped us cut down the Christmas tree. Next, he helped us with the Christmas lights, which I must say is our best display yet!

Nicky visited Santa this week, and got an adorable picture with him. We dressed the little guy in an Elf outfit!

He has also already opened his first couple gifts! His first gift was from his Physical Therapist, Sussanne.

Speaking of therapy, Nicky has really gained a lot of strength the past few weeks, and his therapist is thrilled! He has muscle tone where he has not in the bast, and he is really holding his head up great!

Just last night, we had a great surprise. Nicky rolled over! Yep, from his little tummy to his back, all by him self, he rolled over! Those that are very close to Nicky, know that this is an amazing accomplishment, and we are proud of him!

Nicky also had an EEG this week, and although there is still a lot of potential for seizures, he did not have a seizure during the exam.

Today, we are going to church, and we're excited to see if Nicky "talks" to the Priest again! Then it is off to family for the next few days. This little boy is going to have presents piled all around him, we can't wait to help him unwrap them!

Well, I wish everyone the best this holiday season. Merry Christmas and Happy Holidays to you and yours!

Love,

Nick, Jenn, and Lil' Nicky

Lil Nicky

2009-12-10T19:02:00.003-05:00

Slowly, but surely, Nicky's first tooth is breaking through! We can just about see it. It is taking a LONG time! Poor little guy, we can tell it is really bothering him. I swear he is on the verge of crying at times! He feels much better when we apply his baby orajel...

Nurse Kim stopped by today. We do not get to see her much because she works nights, but she is very special to us. Several months ago, she saved us an ambulance ride and emergency room visit on a terrifying Friday night. Nicky was suffering from clusters of seizures that would stop him from breathing for 10 seconds at a time. We thought we were going to have to perform CPR a couple times, and called both Walk With Me and 911 for help.

The ambulance and Nurse Kim arrived at the same time, but Kim was able to treat the seizures. This is important because the emergency room is very stressful for Nick, and it is just an awful place for him to spend the night. We have to do everything we can to conserve his energy. Kim followed up every day for the rest of the weekend, just to see how Nicky was feeling. She is a sweetie.

Kim was amazed by how much Nick has grown since she last saw him. I believe he was around 12 lbs at the time, and now he's almost 18 lbs! We also learned that his height is in the 25% percentile, which is pretty good considering he was not even on the charts a few months ago!

The past week has been a lot of fun.

We took Nicky to Church last Saturday. This is the first time he saw Monsiniour Mike since the baptism. Every time Monsiniour Mike would speak, or chant, Nicky would talk back! I think he enjoyed the acoustics in the church. Someone commented on Jenn's facebook page that Nicky was "talking to God". I like the thought of that a lot.

On Sunday, Uncle Jimmy treated the family to Christmas dinner at the Detroit Golf Club. It was excellent. Nicky is a big shot already, hangin' out with his God Father at "the club".

Everyone is noticing a lot of good things about Nicky. Jen and I are noticing good things too. He seems to have more energy, and is making more of an effort to hold his head up. He also seems to be looking at things a lot more, especially the Christmas tree. We may just turn in to those people that keep the lights up all year!

We are grateful for right now, and happy, that we are able to enjoy our baby with out the paranoia of dangerous seizures or emergency room trips or breathing problems. I am knocking on wood as I type, and will say a prayer tonight as I do every night, that things will keep moving forward.

I am so proud of my baby boy. So resilient. He is a Torpey, and he is strong!

God bless.

Love, Daddy

Happy Thanksgiving

2009-11-25T19:36:00.003-05:00

Happy Thanksgiving!

We are thankful for so many things this year. We are most thankful that we were blessed with a beautiful, strong, baby boy this year. We are thankful for a supportive and united family who loves our baby and cares for him daily. We are thankful for Walk With Me, our wonderful Pallative Care program that cares for our Son.

We are thankful that Nicky is able to experience so many things that all little boys experience. We are thankful that he was able to swim in his first pool this summer, and play in the leaves this fall. We are thankful that he had his first Easter, Halloween, and in a few hours, his first Thanksgiving. We are thankful that he will join a family tradition, and cut down a Christmas tree with us this weekend. We are thankful that Christmas is approaching, and can't wait to help him unwrap presents, and play with him in the snow. These are the times we cherish, as should every family, for we have no idea how long they will last.

We are thankful for the amazing outpour of support from family, friends, and the community. We are thankful that we are able to afford optimal care for Nicholas because of the support.

Nicky is doing well, and I want everyone to know that you are all part of this journey. Your support is helping our Son.

Over the past 4 weeks, we have seen significant improvement in his neck strength. He is still seizure free from what we can see, he is breathing well, managing his secretions, and we believe he makes eye contact from time to time. He is still vocal, and expresses discomfort more than we have seen in several months. We believe it is because his little teeth will break soon; he calms down when his Mommy applies a special ointment!

Last week, we met with genetics and neurology. We did not learn anything new at the genetics appointment, but the neurology appointment was positive. The doctor was happy with Nicky's improved muscle tone, movement, and the reduced seizures. He attributes the improvement to the reduced seizures and responsiveness to cofactors, which are basically vitamins. He commented that 1 in 10 children are very responsive to cofactors, and we are hopeful they are working for Nick.

Nicky is a busy little man. Outside of his daily therapy and nurse visits, we have him involved with a Kinesiologist and an Alternative Health Care Center. They will provide therapy to help with his brain and body connection, and nutrition supplements to improve cellular function. We also start Hyperbaric Oxygen Therapy next week which we hope will improve Nicky's energy.

I am thankful to all of you this Thanksgiving. Thank you for uniting with us, and loving our little boy. Thank you for the prayers, hugs, and strong words of support. We thank you, and Nicky thanks you. Happy Thanksgiving to you and yours!

Love, Dad

In the Loop!

2009-11-13T18:38:00.002-05:00

Nicky's fundraiser at The Loop Hair Salon was fantastic! There was a very good turn out, and Nicky actually made a quick visit to see everyone! We'd love to thank the owner, Gina, as well as her entire staff for dedicating their Sunday to help our son out!! These women took time away from their families to help support ours. For that we are forever indebted to each of them.

A thank you for the folks that stopped by to pamper themselves as well!! We could have not done this without each & every one of you!!!

All of our love, Nick, Jenn & Monkey

Support for Nicky

2009-11-06T22:49:00.009-05:00

I returned home last night to find my Son wide awake and cooing as if he was excited to hear all about his big party! He truly is an Angel.

I hugged and kissed him just like everyone asked, and we had a long talk before I tucked him in for bed. As we talked, I know he found comfort in my voice as I explained that 416 people were in his corner last night to support his fight with this terrible disease! I know this made him happy.

He was happy that his Grand Parents, Great Grand Parents, Aunts and Uncles, cousins, friends, neighbors, and even strangers were at his party to support him and celebrate his life.

I know he feels the love; I know he feels the prayers. I know this gives him the strength he needs to keep fighting.

Thank you to family and friends. I know it has not been easy, and I can not put in words how much I love you and appreciate your dedication and hard work for my Son.

Thank you to the people in the community that did not know my Son, but found it in your wonderful hearts to help him. You are now forever a part of my Son's life, our hearts, and this journey. I will never forget the friendly and comforting conversations with each of you and it is a honor to have your support.

Thank you to the Shores Sentential and Channel 4 for the publicity. Thank you for telling our story and honoring my Son's life.

All things considered, Nicky is doing well. If there is any seizure activity at all, it is difficult to see. His Physical Therapist commented this week that his arm strength has improved. I notice that his legs are a little stronger. He has recently gotten over a cold, which tells me his immune system is still functioning. He seems to display more emotion than he has in months, such as fuzziness when we are changing his clothes. He is managing his secretions much better. His breathing has become more natural, rather than labored. His digestive system is still working well, and in fact, he is gaining a lot of weight! Nicky is 17lbs now, and has gained 6lbs since August 13th.

We are being as proactive as possible in helping him with his condition. Our Physical Therapist ordered a neck brace and custom chair to help him with core strength and posture. He recently received a flu shot to protect him against a life threatening illness.

We are also making significant changes to his health care plan, and investigating an experimental treatment outside of the U.S.

He has also started to see a Kinesiologist who has a good understanding of brain activity, and believes he can reduce the potential for seizures by conditioning the brain cells through different exercises. This will in turn allow us to lower Nick's seizure medication, and allow his brain to develop.

I am also trying to meet with a reputable Alternative Health Care clinic that specializing in nutrition, and can provide supplements and diet enhancements that will protect Nicky's vital organs against the seizure medication while also helping him reach his full potential.

In addition to all of this, we hope to start Nicky's Hyperbaric Oxygen treatments again soon, which theoretically help a number of things, such as improved energy, digestive system, sleeping patterns, and brain cell activity.

All of this is possible because of your support. I again, thank all of you.

My baby boy continues to fight, and I am proud of him. I said it before, and I'll say it again. My boy is resilient. He is a Torpey, and he is strong!

Love,

Dad

Our Story Airs

2009-11-02T19:09:00.001-05:00

So we just received word from Rhonda Clark & our story will be aired this Wednesday, NOvember 4th @ 11pm on Channel 4 news. They will be running promos from the evening prior until the night it airs. If you feel so inclined, please pass this information along to your friends & family so we can continue to bring awareness to this horrible disease.

Monkey's Fight

2009-11-01T20:31:00.004-05:00

It's been a few weeks since our last blog & wanted to report on how the lil man is doing. So we're 4+ weeks since nick's last seizure. The new medication seems to have a good handle on his infantile spasms. We are so thrilled that he is doing so well. It's been a busy few weeks for the Torpey household. Rhonda Walker, from Channel 4 News, stopped by October 23rd for an interview on our son. We are waiting to hear back as to when it will air but it should be sometime this week. As apprehensive as we were initially to have this interview, we are truly hopeful that our son's story will continue to bring awareness to this very rare & often times, unheard of, disease. We are hopeful that our story can reach those who are looking for support as well.

Nick also celebrated his first Halloween. We had a houseful of family over to enjoy in this wonderful day for our son. I must admit, he made a good looking monkey, that's for sure. We went around to the neighbors to show off our lil man & was able to get a few pics with his pal, Noah.

We are seeing some great improvements with our son. He is looking at us when we talk, has better head control & seems to be getting stronger with each passing day. I cannot express the gratitude our family has for the continued support & prayers. We are truly blessed to be given such an amazing support system in our family, friends & community. We look forward to our next fundraiser this Thursday which reminds me that I should be working on the raffle baskets.

With all of our love, we thank you!! The Torpey's Jennifer, Nick & Monkey

Love Transcends

2009-10-21T21:48:00.002-04:00

Our son is 8 month's old today & has gone 3 amazing weeks without 1 single seizure. I cannot be more proud of this lil man & the fight he has within. Each day that he continues to fight, that he continues to get strong, is a day to celebrate in my book. A day for me to embrace, hold on to & cherish forever. Through this journey, I have come to TRULY realize the significance in life, what truly matters to me. I had so many dreams & plans for my son, like I had already scripted his future for him already (in many ways, I think most parents are guilty of doing such). But throughout our diagnosis, a wise man said to me "Sometimes the dreams we have for our children may not be as we had planned but have always been God's plan" This brings so much comfort to me (:

Like I mentioned, my outlook on life has changed in so many ways. I was raised by a strong, loving, supportive & nurturing family & have never taken for granted how blessed I am. But to be honest, I think I got lost along the way in my early adult years. What once mattered to me no longer does or at least doesn't measure as high as it once did. I only hope that everyone can recognize what is truly important to them, be true to it & appreciate what they do have w/o having to go through something life altering in order to get to that place.

This week has been a crazy busy one for us.. Family pics on Monday, which monkey slept through the entire session, despite 3 wardrobe changes. The photographer did an amazing job & dedicates a lot of her time to working with family's with terminally ill children. She posted just a few pics on her blog & we are anxious to see how the proofs turn out. If you would like to check the few out, please go to her website @ www.reflectionsbyheatherbrown.blogspot.com

Nick & I initially struggled with opening up our lives to everyone outside of our immediate family once we heard the diagnosis. But through the support of our wonderful family & friends, we have not had 1 regret in sharing this with everyone. Guess when you go viral, you need to be okay with letting anyone & everyone know. We have been very fortunate to be lined up with Channel 4 news. Rhonda Walker will be coming by tomorrow to meet with us & I must admit I'm very nervous. But what a great opportunity to shed light on Mitochondrial Diseases & our son's condition. I can only hope that this forum provides us with an opportunity to bring awareness to this rare & very underfunded, under-researched disease.

I need to get some rest & hope that every one of you reading this today will be comforted by the good in your life! I hope that you will kiss your loved ones & remind them how much they are loved!!

Beautiful Poem written for our son

2009-10-16T07:07:00.002-04:00

Nicky's Life,
Nicky was born out of love one day to be broght upon this earth in God's own way.

One day this child took a flight only to find out he was fighting for life.

His parents and loved ones care for him so much, so we pray to you Dear God for the miracle of your touch.

Our dreams for Nicky's future is for a beautiful life for this little loved one will not give up his fight.

As we stand by his side we know God you are near because when you look into his eyes he is giving you a cheer.

Love,
Diane Radford

My Toothies

2009-10-16T06:47:00.003-04:00

So our little monkey has been fairly feisty this week (one could argue who he gets that from). Come to find out, the poor little guy has 2 of his bottom teeth coming through. I feel so bad for him & when I massage his little gums, I see the relief in his sad lil eyes. It's hard to believe the journey we have been on these past 3 months but I am so very thankful for every minute I get to cherish with this beautiful little monkey. He brings so much joy to our lives & is truly a gift from God. It's has been 2 full weeks since we've seen a seizure. He is adapting well to this medications (: I can't tell you how much weight has been lifted off my shoulders because of this milestone. Though the doctors tell us the seizures will only get worse, medications will eventually no longer help, I still find comfort & peace in celebrating what he has overcome with each day that passes.

As I look back, I find it so crazy that he will be 8 months on the 21st of October. Time has truly passed right by me. I can remember the first time I felt him kick, hiccup, somersault inside me, the first time I saw his beautiful little face, the immediate bond we had, the first time I kissed him, the first smile we shared together, the first giggle, the first time he nuzzled against me The overwhelming love a mother feels when they first have the chance to meet the angel that has been growing inside of them. We all have been through a lot but one thing is for sure, our love has never wavered, it's only gotten stronger!!! On that note, Happy Friday!!

Successful Fundraiser

2009-10-08T23:00:00.008-04:00

Today, I want to thank each and every person that celebrated my Son's life. Thank you so much!

Thank you to the always reliable immediate family, who were by my Son's side every single day he was in the hospital, and have yet to leave his side.

Thank you to the extended family and dear friends, who are helping in so many ways, and willing to do anything to support my beautiful baby.

Thank you to the friends who we do not speak with as often as we would like; your support gives us strength.

It is not easy to stay strong. It is not easy to stay positive. A very dear family member said to me, not too long ago, that he saw me smile for the first time since Nicky became ill. This is because we found something that gave us hope.

Today, because of you, we again have hope. Today, we can smile.

I held my baby as he fell asleep tonight, and kissed him goodnight, and I will dream he will defeat this disease. I will dream he will remain seizure free, and continue to coo, and move his arms and legs.

Thank you for making these dreams possible. Thank you for making tonight possible. Thank you family. Thank you friends.

Love, Dad

First Fundraiser on 10/8

2009-10-04T10:24:00.001-04:00

First things first, how about some positive news? It has been over 24 hours and Nicky has yet to have a visible seizure! In addition, he slept like a champ last night. That's my boy!

Although the neurologists are quick to remind us that his condition will continue to regress; we really do not care for much they have to say anyway!

It is hard to believe that Nicky's first fundraiser is less than one week away. If anyone has yet to RSVP, please know that you are still welcome to attend, but we would also love to have your support at our next fundraiser on November 5. Those details will soon follow.

The auction items that we will have at the fundraiser our amazing, and we hope to send a list to everyone prior to the event. We have vacation packages (www.sheratonsteamboatresort.com), exclusive sporting event tickets (50 YL, Rw 6, Lambeau Field), autographed sports memorabilia (Al Kalin ball and bat), gift certificates ($1K laser treatment), jewelry (Ahee, Lucido, Maloof), and several other incredible items.

Asking for help is not something that came easy to our family, and I want to thank each and every person for the incredible support. You remind us that there are still a lot of wonderful people in this world, and you give us the strength to continue this fight.

Well, it's time for NFL pregame. My Son and I are going to relax and see if the Lions can make it two wins in a row! We will also have a visit from our friends Joel and JoMarie today, who are always great company!

Thanks again to everyone who has helped with the fundraiser, and we are looking forward to seeing you on Thursday.

Love, Dad

Nicky Update

2009-10-02T21:40:00.000-04:00

The neurologist diagnosed the type of seizure our Son is experiencing. They are called infantile spasm seizures. The label alone is heartbreaking. No infant should experience such discomfort.

Although they are always painful to watch, Nicky's seizures have improved over the past couple days. Rather than having several, that would last 10 minutes or longer, he is down to one or two a day, lasting under 10 minutes. Hopefully the increased dose of medication, and this new medicine, topirimate, is helping. Although we do not like adding more medication, we are grateful for every minute he is able to rest. We would give anything for him to have a good night's rest.

Nicky has also did well in Physical and Occupational Therapy this week. Susanne and Lisa are doing a great job with him, and they are very consistent, which is what he needs. They put this poor boy through a work out! He has a long way to go, but it good to see him move his arms and legs. He also shows emotion through adorable grunts and coos; it is as if he is telling the therapists to leave him alone!

I would do anything to stop this disease. I say it weekly, sometimes daily, that I would trade places without hesitation. If someone told me to jump from a cliff, and Nicky would feel better, I would jump without hesitation. Alas, it is not that easy, and we must continue this fight, and stay strong for our baby boy, and find something that will help him!

My boy is resilient. He is a Torpey, and he is strong!

Love, Dad

Daddy's coming home earlier today

2009-09-27T08:36:00.000-04:00

We are so excited that Nick & Uncle JImmy are coming home earlier than expected today!! We miss them all & know that they have some good info to pass along to us after their meeting. Monkey had his first seizure of the day today but went almost 12 hours without having 1 at all. Let's hope there isn't anymore today (: We're just about to eat breakfast so I should be going. Milk for monkey & some scrambled egg whites for mommy..xoxoxoxo Jenn & Monkey

2009-09-26T15:26:00.001-04:00

The results have come back & there is evidence of seizure activity on the EEG. Not sure we necessarily needed another EEG to determine that because the medications are a trial & error no matter what type/s he is having. The new medication is not working as we had hoped so they have prescribed a 3rd anti-seizure medicine that we are going to try in another few days. In the meantime, the doctor has increased his 2 other medications now that monkey is a whopping 14lbs & his built up a tolerance for his medicines. For a child who was on the low end of the curve has definitely beefed up since leaving U of M., that makes mommy & daddy so happy... The therapists have suggested a specific type of seat that may help monkey with his head control but we haven't seen that just yet.

Daddy & Uncle Jimmy are gone this weekend to meet a doctor who is doing some clinical trials with gene therapy, hopefully this could be an option for our son. Monkey & Mommy miss daddy & can't wait to see him tomorrow. xoxoxoxo jenn & monky

A New Day

2009-09-23T22:13:00.000-04:00

EEG results pending, hopefully by Friday we will know more than we do now. I don't claim to be a neurologist but I can tell you that from observation alone, the medications the doctors have my son on are not doing the job!! Though his seizures have been minimized to 1-2/day, they are still happening. Each time a seizure occurs, we are on baited breath hoping that he can persevere through!! Thank God & the angels above, he has!!! I have also noticed that when 1 type of seizure is controlled, another one pops up that wasn't present before. I've also learned, from other mothers who have children who are afflicted with seizures(and some at 100x/day), is that there isn't always a medicine to prevent the activity. What baffles me most, is that there is so little known about the human brain & the central nervous system. This vital organ controls everything we do, why is it that we know so little about it?

Monkey has had some really great days!! He has been doing well with his PT & OT!! Today he was being so sassy to Lisa, it was actually quite comical!! She was doing a stretch with his arms today & he was babbling away (almost growling at her) When she would stop, he would let out a huge sigh as if he were saying, I'm over this lady can't you see I'm tired?!? Our therapists have such an amazing bond with our son, as well as the nurses who help us care for him, Kris & Kim. I tell you what, the Pallative/Hospice Team @ St John's are truly amazing (:

In such a short period of time, our lives have changed so drastically but yet so much remains the same. It's funny how life can change so quickly. To be given this path, I know that there is a reason for it!! As much as I wish it wasn't my first born angel having to experience this, I believe in my heart that we WILL be the ones that help other children out who are afflicted with the same disease. Our son is such an amazing soul & gift from God, I tell you that much I know for certain!!!

If you know me, it's rare that I'm at a loss for words or have difficulties speaking my mind. Since 8/1 & through this 7 week journey, I find what once came so easy for me is now so challenging. So many have reached out to us & those who have specifically reached out to me, I want to THANK YOU & also let you know that I find so much strength from your words of encouragement & my heart fills with warmth!! I haven't been good at keeping up with calls/emails but I hope you can understand why. God has blessed me & my family in so many ways & I'm heading to bed right now to thank him again for those blessings!!

With all of our love, we thank you for helping us spread the word & fight for our son!! xoxoxo The Torpey Family

Go Lions!!

2009-09-20T21:16:00.000-04:00

Today was a good day for the most part. Only 1 seizure @ 1215 & hopefully no more. Medication seems to be helping but we'll know the best option after my EEG tomorrow. Grandma & Grandpa Ruhana are taking me there so Mommy & Daddy can go to work.

Before Daddy left for the Lion's game today, Uncle Jimmy stopped by & Daddy dressed me up in his favorite lion's gear. Too bad they didn't win today ): While Daddy was gone, Mommy read me 2 books, did some PT work, dressed me up in my new Halloween Costume (which I must admit looks pretty darn cute on me!!). We also went for a walk around the block but then it was time for us to come home & eat my mid-afternoon snack. I had fun today but missed my daddy dearly ):

My mommy says that our fundraiser event is coming along very well, I wish I could be there to see everyone. I can't believe all of the love & prayers that are given to my whole family. Mommy & Daddy weren't lying when they said we were blessed to have so much love & support throughout our journey.

My dad's friend, Brent, took the time to put this website together for my family. It's so beautiful, isn't it?!?! Thank you Brent for your hard work, time & love!! I cannot thank you enough for what you've done!!! xoxoxo Nicholas aka Monkey, Nicky, Neeko, Bunky, LoveBug, Pumkin, Puddin

Sept 19

2009-09-19T08:24:00.000-04:00

Today is a new day, and we are cautiously optimistic that Nicky's new medication is helping with the seizures! There is a drastic improvement. Please pray that our Son will continue to have relief from these terrible seizures.

Our home nurse, Kris, went out of her way yesterday to obtain the new medication. I can tell that she truly cares about what is best for our Son, and I want to thank Kris for helping him experience a good night's sleep for the first time in over a week. Kris, from the bottom of my heart, thank you for caring, and thank you for helping our Son.

We are quickly learning that we must take one day at a time. Every day is a new battle, and every day we must fight for our Son. Today, I hope to continue celebrating this one small victory, and see my Son have a peaceful day. We will relax, and watch football, and enjoy the comfort of family. My Son and I, we will pretend that everything is fine today. Tonight, we will prepare to fight again! My boy is resilient. He is a Torpey, and he is strong!

Love, Dad

Our Battle

2009-09-18T18:49:00.000-04:00

The last few days have been somewhat of a blur for our family, the overwhelming support from our loved ones & complete strangers, little sleep & lots of activity for our sweet lil monkey. The new seizures that Nick has been experiencing are multiplying & keeping him sedated for most of the day which usually keeps him up at nite. The doctor has increased his phenobarbital but it doesn't appear to be working on this type of seizure. So the started him on another today. Keeping our fingers crossed this is the solution. The most we have seen in one day has been 5 but that is 5 too many, in our opinion. On Monday, Nick will be hooked up to another EEG but this time he gets to come home. We'll be able to record the seizure activity in hopes that when they take it off on Tuesday morning, they'll be able to identify what type of seizures these new ones are & what is best to treat them.

Our goal is to get him off this medicine but find a way to control the seizures. The homeopathic remedies we've tried aren't working either but I have not given up on that approach just yet..With each seizure, he is fighting for his life & exerting so much energy (which we are trying to contain so he can be as strong as he can)...

One thing is for certain, we will not put the limitations on him that the dr's say will never be. They say, he'll never crawl, walk, talk but we won't allow that to be true...We are willing to fight with every bone in our body to prove them wrong & to give our son the life he deserves to have..

I think this quote helps me out especially on days when I feel defeated.."Letting go, embracing the here and now, loving, breathing, and worshiping the gift of now, helps me more than holding on to some days in the future that may or may not be as I expect them to be anyway." -Dr. Rick Benedict

Sept 15th

2009-09-15T18:18:00.000-04:00

Nicky has been plagued with seizure activity since our stay at U of M. As a result, the doctors prescribed him phenobarbital 2x/day through his feeding tube. Seizures became manageable after that point & the dosage was lowered. Within 3 days of lowering, the same apnic seizures came back. Actually 15 in less than 45 minutes. These types of seizures stop our son from breathing & makes it harder for him to return to his baseline afterwards. The docs made a decision to higher the dose & we had been seizure free for almost 2 weeks. On 9/9, we started to witness a different type of seizure that some call rhythmic seizures which are associated to grunting & arm extension but thankfully he has the ability to breathe. On 9/13, we began seeing more than 1 of these types of seizures daily & began to worry about his blood levels (this is tested to see if the anti-seizure medication is at an acceptable level to control the seizures). His levels were not where they needed to be however the Neurologists believe Phenobarbital is helping with the apnic seizures & he may need another anti-seizure medicine to control the new seizures we've been seeing. He has experienced 4 seizures again today & just recently, we had to administer Valium to get them to stop.

As most of you can imagine, this is such an emotional roller coaster for our entire family. Words cannot describe the hurt all of us feel when we see our sweet little baby boy experience so much pain & there is little to do to take it away. If I could take this away from my son, I would without hesitation!!! I know I have the strength to weather this storm but there are moments where I just can't find the emotional energy to stand strong & today is one of those days for me.

I'm finding these blogs help me to share my son's story, keep those updated on his condition But it also provides me with a medium to release the emotions that are running amuck inside of me. Thank you for letting me share this experience with each of you...xoxo Jenn

Our Fight

2009-09-14T23:29:00.000-04:00

On February 21st, 2009 the most beautiful gift was given to us, our son, Nicholas James. He was born a healthy, happy, 7lb 8oz bundle of joy. With each day that passed, our hearts continued to grow with this immense love that we never knew existed prior to having our son.

On Saturday, August 1st our son was rushed to the hospital because of Respiratory Distress. Shortly after being admitted to the ER, he was intubated where he remained as such for 6 very long & emotional days. By day 3 of his hospital stay & several tests, our doctors had advised we be transferred over to U of M Children's Hospital to have further tests run. Our entire family made the 1 hour trek to U of M for the next 10 days to support the 3 of us as we continued down this journey. Their love, support & prayers gave us the strength we needed to fight for our son.

Shortly before our discharge, my son was diagnosed with an extremely rare Mitochondrial Disorder, called Leigh's Disease. Unfortunately, this horrific disease has no cure & is considered to be terminal. While this news devastated our entire family, we continue to pray for a miracle & the strength to persevere. It's our hope that we uncover every rock there is to find a way to bring our beautiful & happy baby boy back to us!!!