Life Along SDS Highway 101 with Frequent Vacations in Egypt

I just got a new computer and found this in my files!

Life Along SDS Highway 101 with Frequent Vacations in Egypt

   Finding support from those who travel the same road

We’ve been on a journey along what I like to call “SDS Highway 101” for almost twelve years now.  I have two boys who have Shwachman-Diamond Syndrome (SDS) and I can tell you that nothing can ever prepare a parent to hear that their child has a life-threatening, potentially fatal illness.   Finding support along the way has been a valuable tool in helping our family cope with the twists and turns of life along SDS Highway 101.

had neurosurgery (they cut the base of his spinal cord) and in December 2006, we learned that there was a possibility that Joseph may need a bone marrow transplant.   We later found out that he did not have a match in the National Marrow Donor Program Registry and were devastated.  Both of my boys are about to have their fourth bone marrow biopsy in just over a year  because they have had abnormal findings of del 20q and del 7q.   The SDS Highway 101 has many exits along the way.  Sometimes we are able to choose where we get off and other times we are forced off the highway.    While we often experience traffic jams and construction,  we also experience driving smoothly along the scenic portion of the highway from time to time, too.   Of course, there are bumps in the road, dangerous curves, and narrow sections along the way.  We’ve even experienced breakdowns.   The families we have met through the SDS support group have helped us tremendously.  They have been our tow-trucks and snow plows during some pretty scary times (breakdowns and snow storms!).   It helps knowing we are not on this journey alone.   

Sean and Joseph were both diagnosed at the age of two.  Their journey to diagnosis was a long one, one where we did not have experienced families to talk to.  Not long after Sean was diagnosed in 1998, a friend and I started an SDS email list on what was then called One List (now Yahoo Groups).   This daily contact with other SDS families became a life saver for me.    These families helped us through many a road block and trial.  Over the years, I have been blessed to meet these parents at various conferences, camps and in Cincinnati where my boys are seen at the Bone Marrow Failure Clinic at CCHMC.  It has been wonderful being able to meet and connect with these families – especially when we are at the hospital in Cincinnati.  It has helped my two boys cope with their hospital visits and the long trip to Cincinnati.   One time, Joseph forgot he was going to CCHMC to have a bone marrow biopsy done!  He thought we were going up there just to visit his SDS friends.   

One of the coping mechanisms I have adopted over the years, is to take virtual vacations to Egypt.   It started off because I would tell people I was in denial about the boys having SDS and would tell them that I was, “Cleopatra, Queen of Denial.”     I would talk about floating down Denial River and how I was so far up Denial River that I could see up Marc Antony’s skirt.    One day, another SDS mom mentioned vacationing in Egypt and sitting on top of the Great Pyramid and so it began…..our entire support group began taking regular virtual vacations to Egypt.   I am the one who always brings the umbrellas for our virtual adult beverages as we float along the river.  I like the brightly colored paper umbrellas, they are important to me.  

As you can see, life along SDS Highway 101 can even have its entertaining moments.   I have leaned on these friends a lot in the past year and a half.  In October of 2006, Joseph These curves in the road have been scary, but I am not alone.  I have faith that God is always with me, but I also have the wonderful friends I have met along SDS Highway 101.  I do not know what I would have done without the support of these wonderful friends.   

Life is a highway.  It has been a blessing to have people with me who have already been to the exits I am approaching.  As we face the possibility of transplant, the families who have experienced transplant have reached out and shared their experiences with me.   I cannot thank them enough for their love, encouragement and support.  I hope that I have been able to help other families through the sharing of my experiences, too.

You are not weak because you reach out for support from others.  We all have the need to be understood.  If you are battling a chronic illness, find others who are on the same highway.  Sharing your experiences can make you a stronger person and better able to deal with your child’s illness (or your own).  If you have a family member with Shwachman-Diamond Syndrome, I encourage you to find support.  Those of us with SDS children travel down the same SDS Highway 101 and through the Shwachman Syndrome Friends and Family list, we have helped one another cope with the twists and turns of SDS Highway 101.   

Out of the Darkness: Life with Chronic Illness

I first wrote this in Sept 2009

Out of the Darkness: Life with Chronic Illness

Many readers are coming from the same place: life with chronic illness. We can all relate to the ongoing debates in our minds, "Should I have done more?, Should we go to yet another specialist? Is this next opinion the one that counts as 'too many'? Am I crazy for wanting answers?" We struggle with these ongoing thoughts and wonder if we will ever have what we deem a "normal life". As I often say, none of us live in that elusive land called "Perfect". Often times, we find that our world is tumbling out of control. Stress, hospitalizations, trying to balance school, work and play wreak havoc on our lives. You might have already been there. I have already been there before......that dark recess of gloom. Thankfully, I've always managed to make my way out of the darkness and back into the light.

Climbing out of the dark place we sometimes find ourselves in can be very difficult. Once we get out of the dark pit, it can also be difficult not to backslide right into that same dark place we try so desperately to avoid. Life with chronic illness is a challenge. Not only do we have the challenges all other parents on the planet face, we also have to fit in extra medical appointments and procedures for our children. If your family is like mine, you are also performing various medical procedures at home on a daily basis. Lastly, let us not forget the insurance and billing stresses along with the stress of financial responsibility. It is enough to push anyone over the edge.

So, what can one do to keep from falling down the slippery slope into the darkness? I certainly do not have all of the answers, but I do have a few ideas that have made a difference in my own life. The one thing that has made the biggest difference in my life has been to pay attention to my own spiritual needs. Most of us do an okay job of taking care of our physical needs, but more often than not, tend to neglect our spiritual needs.

When my boys were much younger, we were living in San Antonio, Texas. Living there afforded me the opportunity I have not had in other places we have lived. I was able to go to a twenty-four hour Adoration chapel at our own parish church. It was perfect. I could go alone to pray once the boys were asleep.  Sometimes, a close friend of mine would come with me. We would sit in the chapel from midnight to until two in the morning. It was a place of serenity and calm. Something rarely achieved in a household with three toddlers bouncing around! In this place, I could pray and just listen to what God was trying to say to me. Another plus, as I often felt I missed what God was trying to tell me amid all of the, "Mom I want, mom I need, mom I've got to haves" of each day.

Once we moved, it became increasingly harder to find the quiet space I needed for prayer and meditation. Even now with older children, I still struggle with finding a quiet place to pray. One place that usually works for me is the bathroom. Dad can handle the kids and I lock myself in for an hour long bath. Soothes tthe tense muscles and gives my brain a rest...even with the occasional knock on the door, "Mom, I need...." as dad grabs them away. I use this time to read books on the lives of the saints, pray or just sit in silence. Reading about the lives of the saints is something I find particularly helpful as many saints struggled with darkness. St. John of the Cross and his Dark Night of a Soul is something I have found particularly helpful. Obviously, I am Catholic, but you can use these techniques to fit your own spirtuality. 

One way in which I take care of my physical and spiritual needs at the same time is by taking a long walk. Many years ago, my father-in-law gave me money for Christmas and I bought the one thing that I claim has saved my sanity a number of times over. I bought an iPod! Not only do I use it when we are sitting in waiting rooms and on long medical trips, I can also walk and listen to music, the rosary, audio books or short meditations. It has truly been a life saver for me. Walking relieves stress and helps build a physically strong body. Of course, it is also nice to be alone and free for a short time. 

During a particularly stressful period recently, I was so riddled with anxiety that I started searching for natural ways to help relieve the physical pains it was causing. I came across this amazing tool kit by Dr. Andrew Weil, a Harvard trained physician who is also an expert in integrative medicine. What I love about his tool kit is that he is very open an honest. He says in the workbook, "You don't have to give up--or take in--any religious beliefs in order to meditate. While many forms of meditation come from religious traditions (Eastern and Western), you can apply the basic principles and techniques regardless of your belief system." He focuses on breath control and relaxation techniques. As he states in his book, "Meditation is simply directed concentration and involves focusing on an object: the breath, a repeated word or phrase (known as a mantra), or mental image." I have integrated his techniques that have been proven to alleviate stress and the effects of stress into my own Catholic belief system. For my mantras, I pick quotes from saints or a passage from scripture. My mental images are usually scenes from the life of Christ taken from the mysteries of the rosary. Obviously, concentrating on breathing to lower anxiety and your heart rate is just that...concentrating on your breathing. I share this in hopes that some of you who have been afraid to try meditation and breath concentration to alleviate stress might give it a whirl once you find out you can make it fit your own belief system. Dr. Weil takes it one step at a time, beginning with breath work. I was amazed with the results. Just learning to inhale and exhale properly while paying attention to my breaths, I was able to lower my heart rate, relax and reduce the effects of stress on my body.

Sometimes, the darkness is unavoidable. Something that has helped me from hitting the bottom as I free fall, much like Alice in the dark rabbit hole, is having a support group of close friends. Friends who are dealing with the same chronic illness and know the intricacies of daily life with SDS, Mito and medical issues. Talking to others about my anxieties, fears and receiving feedback is a valuable asset. It lets me know that I am not alone in my thoughts and feelings, that what I am feeling is normal. These friends have been there to pick me up when I fall, and I have hopefully been there for them in return. If you do not have access to a local support group, you may want to consider joining an online support group.

I also find writing to be a creative outlet that helps me to get back on track and out of the darkness. While I am not very good about keeping a journal, it does help me from time to time. I may only have a few entries a year, but it is my journal, so who cares!? I also write articles for a few online sources. The feedback from readers has been very encouraging and helpful. Other outlets might include a blog, online journal or family website. Do not underestimate the power of sharing your journey with others. It can be something positive and powerful!

The last bit of advice I can offer is just to let it go. I do not mean to let the darkness overcome you completely, but for a brief moment, allow yourself into the darkness and feel what you need to feel. I truly believe denying oneself the opportunity to feel these normal emotions of fear, saddness, and grief, one is never able to heal and move on. Allow yourself to cry, scream or just be sad. Our support group recently discussed this very topic and we realized that many of us were able to let go while driving. It was a time and place that we were alone and did not have to worry about family members being upset by our display of emotion. Of course, when driving, one must pay attention to driving and may need to pull over if the "session" becomes too overwhelming. I have found myself sitting in the car in the church parking lot many times. It is a safe place to sit alone and it works for me. 

We may not always be able to escape the darkness in our lives, but we can minimize the effects it has on our physical and spiritual well-being. The next time you find yourself slipping into a place you do not want to be, try focusing on your spiritual needs along with the other strategies listed hee and you might be pleasantly surprised to find the darkness disapears quickly. 

** as I get this article added to my blog, I realize that I need to get Dr. Weil's kit back out.... I've been dealing with quite a bit of stress lately (thank you new insurance plan) and need to minimize the effects of the anxiety!!!

Chronic Illness and Sibling Challenges

I wrote this back in July of 2010

Chronic Illness and Sibling Challenges

As a parent of two boys with Shwachman-Diamond Syndrome (SDS) and secondary Mitochondrial Disease (Mito), I often wonder what life would be like without the double diagnosis. I know that we would define "normal" a bit differently than we do now. I know there would still be many challenges. Any parent knows there are plenty of challenges just raising healthy kids! Most parents have to deal with issues between siblings on a daily basis, removing chronic illness would not remove sibling rivalry.

On our way back from Shwachman-Diamond Syndrome week at Camp Sunshine, I was pondering how my children might be different had we never had the effects of SDS and Mito in our lives. I wondered if other families were more "normal" because they did not have SDS or mito in their lives. The answer to the first question is yes, our lives would be different. The answer to the second question is, in my opinion, no. Other families are not more normal, they just face other problems and challenges. I realized that our family would not me worry-free, problem-free or carefee if we were able to remove SDS and Mito from our lives. Raising kids is challenging in and of itself!

Sibling issues pop up for a variety of reasons, not only because one child has medical issues. Sure, the sibling problems may be intensified due to medical challenges, but I believe they would still be there. We have plenty of non-medical related sibling issues in our household. One child excels in mathematics and it drives his older brother insane! We have the typical, "I don't want my brother to tag along with me" issues and we have the daily sibling arguments over food, remote controls, video games and seating arrangements. We have had to deal with learning problems and issues with school work, too. When my oldest was younger, he did have a brief period of time where he thought hospital trips with his two younger brothers were fun and special times for his brothers. He accompanied us to the hospital for IVIG, bone marrow biopsies and other procedures a few times and realized his brothers were NOT having fun.  For the most part, I would say that the sibling issues we face day to day are the same as just about any other family. 

I think it is important for siblings not to be completely isolated from the medical events unfolding around them.  This helps them to understand that the sick child is not receiving preferential treatment. Seeing what happens first hand tends to make a big impression. It is also important to let the other children know that if they were ever sick or needed hospitalization, that you would be doing the same things. It can be scary for the children going through the medical treatments and for siblings and parents. It's okay to exprerss these emotions openly and honestly. They need to be addressed and can only be addressed if we acknowledge they actually exist.

Along the way, we have always been open and honest about what was going on in the medical realm of the boys' lives.Sometimes, I wonder if, perhaps, we have been too honest. I also wonder if our daily medical drama will scar them for life! Parents know their children best and only they are able to decide how much detail to share with their children. I'm sure many of you reading this know the medical drama of which I speak. No matter what medical procedure you have to do at home, shots, urinary catheterization, infusions, swallowing pills and medications, etc, there are bound to be times where the stress of it all leads to what we call "medical drama". I have been known to say, "There is no greater drama than pill drama" <insert cath drama or shot drama or whatever medical drama you are experincing at the moment>

Surprisingly enough, we have watched our oldest turn into a wonderful young man. He is full of comppassion, though not always for his own brothers, and has become a wonderful volunteer in our community. Looking back over the last fourteen years, we can see there are blessings to be had in having chronically ill children. The blessings are not always apparent during the crisis or in the day to day craziness, but the blessings are there. Slowly building, constantly changing until one day you realize the fruits of your insanity. When my boys were much younger, I wondered if they would ever turn into normal human beings coming from our insane world of "medical drama". So far, I can report that things are looking good.

**as I retype this article 5 years later, I can tell you that things are still looking good. My oldest is finishing his second year of college and my youngest two will hopefull be graduating in the next year and heading off to college. 

How to Communicate Effectively with Your Child's Doctor

I originally wrote this in July of 2009.

How to Communicate Effectively with Your Child's Doctor

Effective communication is a key ingredient in receiving the best health care for your child. As a parent, you are your child's best advocate and have the responsibility to ensure you are making the best choices for your child's health care. The only way to ensure quality of care is to be an effective comminicator with your child's doctors.

Before the first visit, make a list of symptoms your child has been experiencing. You will want to make a list of all medications and supplements your child is taking and write down any questions you have for the doctor. By writing these things down, you ensure that you do not forget any important details. This comes in handy if your child becomes fussy during the appointment. Fussy children are a distraction and often cause parents who do not have everything written down to forget key pieces of information.

At the first visit, be open with your child's doctor. Explain what your expectations are for communication, treatment and care. Make sure that you understand how results will be reported to you. Will the doctor call with results? Will the nurse call? Will results be available online? You need to be sure to find out office policies regarding reporting results, as well. 

Take notes during appointments. Write down the details of any procedures the doctor suggests and be sure to write down any medication instructions given at the appointment. I have found myself at the pharmacist and had the pharmacist ask, "Did the doctor tell you how this medication was to be given?" I usually write the answers to my questions next to the question in my notebook, so that I can review it again later. Do not be afraid to ask the doctor to repeat his answer. I have even asked them to spell words that I think are important to my understanding, yet do not know how to spell. 

If you have a sensitive topic that you would like to discuss with your child's doctor and you would prefer your child not to hear, ask the physician to discuss the matter in the hallway.

When you arrive home, review your notes and write down any questions you think of as you review the notes. I always keep the medical notebook handy so that I can write questions down as they pop into my head. I have often faxed or emailed my questions to the doctor in advance of our appointments so that the doctor can have his answers prepared when we arrive. 

If the doctor is part of your child's health care team, let him know what your expectations are in regard to communicationg with the other health care professionals on the team. If you expect the doctor to send reports to the other team members like your child's pediatrician or other specialists, then you need to let him know. Often times, the office has forms to fill out regarding who is sent copies of appointment notes.

If the doctor is unable or unwilling to fulfill your expectations, find a doctor who is willing to work with you. If your child's physician is not willing to spend time to answer all of your questions or listen to your concerns, it is time to move on to a doctor who will. Your child is precious and you are your child's best advocate. Through open communication, you can ensure that your child will receive the best care possible from his physicians. 

Beyond the Second Opinion: Is There Hope?

I wrote this back in May of 2009 - in the years after I wrote this, we've met at least 10 families with children the state accused of "medical child abuse"- many of whom whose only "fault" according to the state was seeking too many opinions. I believe that parents have the RIGHT to seek as many opinions as necessary.... but I would caution that hospitals now employ special physicians who look oout for families who seek too many opinions. 

Beyond the Second Opinion: Is There Hope?

Children with multiple health issue often require numerous specialists to care for their many needs. This can often leave parents feeling like the appointments are unending. When these appointments do not lead to fruitful, tangible results for the child, parents often wonder when enough is enough.  Often times, second opinions are sought to seek alternative treatment options. How many opinions are too many?

I do not believe there is such a thing as too many opinions when an effective treatment has yet to be found. As parents, we can never give up hope that viable treatment options exist. Certainly, there are exceptions, but I am here to tell you: do not be afraid to seek a second, fourth or fifth opinion. In some cases, it may be the seventh opinion that brings answers and an effective treatment for your child. Yes, you read that correctly, I said that it may be the seventh opinion that brings answers. Unless you seek, you will never find the answers. 

Do not be afraid to speak openly with your child's physician about your concerns and lack of an effective treatment. Do not be afraid to speak to your child's physician about wanting a second opinion.  I have found that the best doctors are the ones who are not afraid of second opinions. If a doctor geys a bruised ego, it is not your problem. The doctor needs to deal with it. Your job as a parent is to care for your child and to find the best medical care and treatments. I like to use the analogy of a football team to explain how I view things. 

I am the coach of our boys' medical team. Our pediatrician is the quarterback and the specialists are the other "team players" on the playing field of medicine. On the field, the quarterback calls the shots while the other players must comminicate and work with the quarterback to make the plays effective, thus leading to a score, and hopefully a winning game. The coach is in control of who goes in and out of the game. Bad attitude? Not a team player? You get benched. I am more of a college coach. Let's say, I am Les Miles. I go around the country, if need be, recruiting players who can fix the problems we have to make us a winning team. I'm not afraid of egos or stepping on toes, because my focus is on winning the game as a team with the best effective treatment for my children as a trophy. If all the players on my football team keep their eyes on the trophy, we will win the game.

Had I stopped searching for an effective treatment for my son after a few opinions, we would not be where we are today.  It is because of my persistence in pursuing effective treatment for him, that he can now go through the day without visible complications from his having a neurogenic bladder.  If we had stopped searching after opinion number six, my son would stll have uncontrolled high bladder pressures that could cause permanent kidney damage. We knew something was wrong by the time he was five years old, at nine he had neurosurgery and finally at eleven and a half and seven opinions later, we found an effective treatment plan.

All seven doctors agreed that my son had a high pressure, neurogenic bladder. All seven doctors agreed that we must monitor his kidneys frequently to ensure that he had not developed kidney damage. We spent years trying bladder training programs, biofeedback and various medications. None of these treatments was effective. Our first urologist moved away and left us with a second doctor who discontinues biofeedback. We left this physician after many trials. Doctor number three agreed with the previous two, tried new medications and one day declared, "Some children just leak urine their entire lives,' right in front of my son, who began to cry. That's when we knew it was time to leave opinion number three behind.

Doctor four was, by far, the most intelligent of the bunch up to this point. In fact, in spite of al the extra opinions, we had kept him involved in the care of my son for many years. He suggested something called a Tight Filum Terminale and sent us to a neurosurgeon. Post-surgical urodynamics showed improvement, but he continued to have problems and still did not respond to medications. We saw doctor number five when we were going through a bone marrow failure work-up at Cincinnati Children's Hospital (CCHMC). Doctor five agreed with doctor four.

We once again traveled from our home state of North Carolina to see a specialist at Children's Hospital of Philadelphia (CHOP), because treatments were not working. Prior to the appointment, I did what I have always done. I faxed all of the pertinent medical records to the doctor. Having such a long drive for the sixth opinion, I wanted to be sure that there was a valid reason to be seen in the CHOP urology clinic. The doctor went over the records and I was told that he believed he could help my son. Urodynamics were repeated while he was still on medication. It showed that he still had a high-pressure neurogenic bladder. Same diagnoses as all the other opinions had discovered. We decided to try a new procedure, Botox injectons into the bladder. The doctor at CHOP had treated over twenty patients like my son successfully. After reading medical articles and speaking with doctor number four again, we decided to go ahead with the procedure at CHOP. The procedure was not successful. Still, I decided not to give up. I would continue to search for answers until we found an effective treatment.

The doctor at Duke had agreed to follow my son after the procedure at CHOP, even if there were complications. I was quite impressed with our Duke doctor in the past, as he thought it was a good idea to go ahead and seek other opinions. It is crucial to have doctors who are willing to work with others for the good of your child. After we figured out that Botox treatment had failed, we discussed what options we might have with both Duke and CHOP doctors.  It was agreed that we could try a higher dose Botox procedure. Because Botox is not a permanent solution (it wears off in 3-6 months) and there are risks involved, I decided that we would seek at least one more opinion before deciding to try th ehigher dose Botox procedure. 

I still laugh when I picture the nurse's reaction when she asked, "So, are you here for a second opinion?" I replied, "No, this is our seventh opinion." The look on her face was priceless, a true Kodak moment.  She trult did not know what to say. She was speechless for a moment, until I broke the ice by saying, "We are hopeful that this will be lucky number seven!"

The Complex Clinic at CCHMC had already gone over my son's records from all previous doctors, procedures and tests. The doctor I spoke to before travelling to Cincinnati told me that he felt he really could help my son. While there, he repeated urodynamics and had some other testing repeated that my son had not had since he was three years old. The results were the same and showed that even on medications and Botox, he still had pressures high enough to cause kidney damage.

This CCHMC doctor's opinion on treatment differed from the previous six. This new treatment has been quite successful and I am very happy that I decided to go ahead with seeking one last opinion. There were times on this journey where I felt maybe I needed to give up or that maybe there really were o other treatment options available. While I knew I was not crazy for doing everything I could to help my son, there were times that I would briefly entertain the notion that I just might be a bit nuts for seeking so many opinions. Let our story inspire you to keep searching for answers whould you find yourself in the same situation. The seventh opinion could be your game winning number, too.