Bone Marrow Transplant Evaluation - Minnesota Children's Hospital

We are here at the University of Minnesota Children's Hospital for an evaluation of a potential Bone Marrow Transplant for Evan.  Normally, they would not even consider a transplant because it has never been helpful for this condition but we are in a very unique situation. Evan has been diagnosed so early in the development of the disease and has not shown a lot of symptoms yet. It may be useful if the transplant is performed on someone so early in the process, before much neurological damage has occurred.  We have had a week full of doctor visits which have been very helpful and truthful to the situation we face. Should we forego the transplant and allow the disease to cause Evan to regress at a similar rate as we have seen in Eli?  Or do we try something drastic with inherent risks, for the possibility of an improved future for him?  It is not an easy decision. 

The other thing which makes it a difficult is that if the procedure is performed it would have to be done here in Minnesota.  Essentially, Evan would go through Chemotherapy to kill off all his existing white blood cells (i.e. his immune system), he would then receive new cells from a compatible donor (hopefully his sister) which would then begin to replicate and grow inside him to create a new immune system giving him a higher level of the enzyme that the GM1 disorder does not have.  At this point, the hope that this new enzyme makes it through the blood brain barrier and helps halt or slow the neurological decline of the disorder.  During this whole process, Evan would remain in the hospital for at least 1 month and possibly up to 2 months. After that he would have to remain within a 1/2 hour of the hospital for another 2 to 3 months.  Essentially, our family would have to relocate to Minneapolis for 5 or 6 months during the process.

This bone marrow transplant procedure has been successful and done many times with another lysosomal disorder called Hurler's Syndrome.  However, by the time GM1 is diagnosed it is often too late to hope for any improvement with a transplant.  We are in a very unique situation because the only reason we know Evan has the disorder is through the diagnosis of Eli.  The research team is excited (not that we have such a burden) but because they feel a whole lot can be learned by examining our boys.  They have two subjects, one who has shown a lot of decline due to the disorder and another sibling where the disease hasn't begun to cause much decline. There is a possibility of  identifying bio-markers for the disease to help scientists learn and understand more about this extremely rare condition.  We are happy to allow them to learn as much as they can through our boys to help advance the research that may help others in the future.

A few of our appointments turned into medical lectures, helping us to learn and understand what is going on in our boys and why they are the way they are.  We feel so blessed to have found these few people in the world that are working to find answers on these rare disorders.  The study they call "Syner-G" is experimenting with a specific diet called the kitogenic diet along with medication call Zavesca (another name being miglustat). They have seen some encouraging signs from a few Gm1 patients and think it is slowing the progression of the disease.  The bad part about Zavesca is that it is about $26,000 per month when the patient reaches the required 300 mg per day. The reason why it is so expensive is because it costs billions of dollars to produce the drug and is required by a small population of people. Their is no generic version produced yet, but that may happen in time. If our insurance covers it, we will most likely be required to pay 10% of the amount, being at least $2,000 to $3000 per month, per child.  Eli does have a secondary insurance through DDD, so we are not sure yet how much they will cover. 

Once we get home, we will quickly get Laya to a lab and test her to see if she is a carrier of the disease. We already know that she is a perfect match for Evan. If she is not a carrier, she would be the ideal donor option if we decide to move forward. If Laya was the donor, it would minimize the risk of graft versus host disease since her blood will be the most similar to Evans. They have also taken more of Evan's blood to look for a further match through chord blood. I believe there is about a 25% chance of a complete match with the chord blood. The good part about that is the immune build up isn't quite as strong in the chord blood as it is in older individuals, so the risk of graft versus host disease is less. Graft versus Host disease is when the newly transplanted donor cells attack the transplant recipient's body. 

Once we understand all of the insurance and donor status, we will be able to move forward with our decision making process. 

The medical center is on the banks of the Mississippi river which makes for some beautiful views.  One day we had a few hours and walked down to the banks of the river to enjoy the scenery and try to forget the gravity of the decisions that stand before us.  It is easy to ask "Why Us?"  But we continue to have faith that we have these trials and experience for specific purposes.  We hope to understand those purposes while here on earth but if not we know we will learn what they are after this life.  One thing I know is these two sweet boys bring the absolute best out of everybody they come in contact with and I think the world is in desperate need of more of that.

On one of our flights over here Marilee began to speak with the lady next to her and found out she was a psychologist.  They began talking and had a wonderful conversation, she volunteered to send Marilee some information and recommendations to help Laya in all of this.  Once the plane landed this wonderful lady helped us get our bags and boys off the plane then escorted us across an unfamiliar airport to help us find our rental car.  Without our boys, we never would have met her and had the experience we did and she wouldn't have had the opportunity to serve complete strangers as she did.  Most of us are placed here to serve others when able while others are placed here to simply be served.

Brad

Minnesota Trip

We are headed to the University of Minnesota to look into any possible treatment options for Eli and Evan. http://bmt.umn.edu/

According to my knowledge, the University of MN is the only place in the country where they are doing trials with GM1 Gangliosidosis and other related disorders. There is one other place in the country that is researching it as well, but they are, at this point, just collecting information.

We will look into the following:

1. Stem Cell Transplant for Evan: Clinical Trial
Evan could be a possible candidate for a stem cell transplant. Dr. Orchard will head up the decision by evaluating Evan, searching for a viable donor and deciding whether or not to recommend a transplant for him. At that point, we will decide what to do.

The transplant has risks of infection and/or rejection. The process begins by killing the cells through chemo-therapy and radiation. The patient is then put into a secure hospital room where the transplant is administered via IV. The child then has to stay in the hospital for two weeks while the new stem cells try to take root in the bone marrow. It takes time for the cells to grow back, during which time, infection is a risk as well as rejection of the transplant.

My understanding at this time, is that they haven't had any success with GM1 patients and they do lose some of the children during this process. Therefore, our purpose in making this trip is to become educated completely about this possibility, so that Brad and I can make the best decision we can for them.

Laya has already done a cheek swab which we sent back to MN, so we will find out if she is a carrier of the disease. If not, she could be a possible donor for Evan. Eli has already had too much damage from the disease for us to hope for any success via transplant.

 2. Ongoing study and drug trials  Clinical Trial
We will also see another group of doctors to discuss and learn about a clinical trial and treatment using the drug Miglustat along with the Ketogenic diet. Both boys will be assessed by the doctors who head up this study, Dr. Utz and Dr. Whitley along with an Ophthalmologist, Neurologist and Neuro-psychologist. They will be evaluated physically, socially and developmentally. Each boy with have to be put under anesthesia for an MRI of the brain. The spinal pressure will be checked while they are under and Eli's teeth will also be examined.

Evan will have his MRI done on the day we fly home. Hopefully he will be super tired from the anesthesia and just sleep the entire flight. Eli has always conked out for a day after being put under. But we'll see how it goes!

What we hope to get out of this trip - We hope that we can have a clear understanding of their diagnosis, what to expect for the future and be more able to cope with it. Hopefully we will have all the information we need to make good decisions about all treatment options for the boys. I'm sure the Lord will help guide us throughout this process, especially if we rely and trust in him.

Eli - before the diagnosis part one, birth to 12 months

Eli Leishman - Sweet, sweet innocent Eli.

Eli was born on March 31st - 2009.

Pregnancy - My pregnancy with Eli and his birth was uneventful. It was a beautiful, natural labor and all went well. He was 8 pounds even and nursed for four hours immediately after being born! He was born in a birthing center near our hospital. The midwife just allowed him to nurse as long as he liked until he was good and ready for all that newborn routine stuff. He loved to nurse and then eat when he became old enough to.

He was especially chubby from 3 to 6 months! We already had one very active little girl, Laya was 21 months old when he was born. She was all smiles and excitement when we brought him home. She said "baby, baby baby!" over and over.

We didn't notice anything abnormal until he started walking. He took steps at around 10 months old and it took him a lot longer (at least in our mind, compared to our older daughter) to get good at walking. He just seemed a little wobbly and would fall over easily. We just thought it was because he was so top heavy, being what a chubby little cutie he was!! At 12 months he could say the basic sounds and words like, ball (bah) Dog (dah) Dada (dah), and all done (ah dah).

We had so much fun with him during that first year. He was hilarious and so sweet.

                   

Newborn Eli - Laya's little buddy. Standing (with help of course!) at 2 months :)

Eli - 4-5 months - Peekaboo, tummy time, giggles, exer-saucer fun, "talking/singing"

Eli - 6-8 months Sitting, scooting, rolling over, scaling furniture, pulling himself up

Eli - 10-11 months, push walking, blowing raspberries, funny boy, peekaboo, dancing or "head banging"

12 months old - first steps, walking around, birthday cake, first words, more dancing!

Should we blame God?

A conversation I had recently with a neighbor spurred on this thought process:

Should we blame God for Eli and Evan's disease and struggles?

Short answer: No

At the risk of sounding preachy, I wanted to share my thoughts and conclusions that I've come to over the past 3 years as I've started to watch Eli regress. It's caused me to think a lot about God's role in all of this, especially as Brad and I have had many discussions (or "arguments"!)  about it. 

Here is some of what I believe about God and his nature:
I think that God is a loving God who wants us to be happy and who has an eternal perspective. I think that God can cause illness, disaster and disease because he is all powerful and can do all things. There are accounts in the scriptures of God causing illness and disaster. But I also believe that God, Jesus Christ and righteous priesthood holders can perform miracles. There are accounts in the scriptures of God, Jesus Christ and others performing miracles. I believe that miracles also happen today. It may not always be God's will for a person to be healed, but knowing that he is a good, loving God, makes me confident that his purposes are going to work out for our good.

(Some friends of mine here in Tucson, The Curtis Family, just lost their boy to a failed heart transplant last night. I don't know all the details but I believe his body rejected the heart transplant. I have been thinking of them and praying for them today. I also believe that God loves that family in a perfect way and each individual is precious in his eyes.)

He may have the ability to change circumstances, but that doesn't mean he always will. We live in an imperfect and fallen world. Yes, Jesus Christ has atoned for all men, but the world in which we now live is imperfect. Diseases, illness and disaster are a natural part of our human existence. I think faulty genetics are a part of this mortal probation as well. God has given his children agency, the ability to choose right or wrong. I've heard terrible stories in which some disgusting person hurt, abused or killed a child. It must be VERY difficult and sad for God to watch his children choose such evil and not intervene. We don't understand when and why he sometimes may step in and other times does not. We do not see what he sees. I do know that he has given his children agency and will allow them to choose and then allow them to suffer the consequences. God does grant his children the right to make choices, good and bad.

My understanding is that one of the main purposes of this life is to be tried and tested. We are here to prove ourselves, whether or not we will be true and faithful even amidst adversity and challenges. Many times, trials and hardships bring people closer to God and greatly improve our character, sensitivity and understanding. Hardships and trials can also break us, IF we don't turn to God for his help. We are all imperfect, fragile human beings, we need deity to help strengthen and direct us. It is difficult to humble ourselves enough to realize that we can't and shouldn't do it all on our own. He wants us to come to him because he loves us, not to force us to live a certain way. Satan's way is by force, God's way is by letting us choose. He wants us to be happy and he knows the way to do it, better than any of us do. He wants what's best for us. I think he is sad and grieves when his children turn from him.

*I should add that yes, God can help us, if we let him, but that help may not always come as expected. Therefore, we have no room to judge others. Many people have had things happen to them that we simply don't understand. We should leave the judging to God and just try to help anyone we can, instead of blaming those individuals for their circumstances.

                                 
                                         



In answer to my question above, I don't think God caused Eli and Evan's Genetic disorder. At least I don't think of it that way. I'm more inclined to think that it is a natural product of this life and the generations gone before. I think that God did know that we would have this situation and allowed it to happen. I think he probably sent us the spirits of Eli and Evan to those bodies specifically for his own purposes that are beyond our understanding at this time. It may be that Evan and Eli are such stalwart individuals that they don't need to prove themselves in this life. It is a teaching and principle in my Church (The Church of Jesus Christ of Latter Day Saints) that children who die under the age of accountability, 8 years of age, or those without understanding, (those who may be older, but are childlike of mind) will automatically be saved in the Kingdom of God. They are perfect before God and don't need baptism or repentance. If Eli and Evan continue down the path that Gm1 is likely to take them, they will fall under that category. Eli already has become much younger of mind than his age. I don't understand all the reasons, but I believe that God loves Eli and Evan and the rest of us. He is not trying to punish us. I think by letting this happen, he has given us an opportunity to learn and grow in deeper love and understanding. He will provide for his children.

                                    
                                       

It's been taught to me that Jesus Christ has saved all men by atoning for their sins and being resurrected. Because of him, we are able to repent of our sins and turn to God. Because of him, all of God's children will one day be resurrected. I have hope and faith that Eli and Evan will one day have perfect resurrected bodies and minds. If Brad, Laya and I repent of our mistakes and sins and try our best to live the gospel, we will be with them forever, sealed together as an eternal family. I believe that I will always be their Mother and Brad will always be their father.

                                         

                                         

Journals

8-29-2014 Decisions, realizations - letting go of busy-ness!

Today I decided that I'm not going to teach piano lessons anymore and that instead of directing my Youth Show choir (The Centerstage Singers) in the fall and spring, I would only do it once a year, each spring. I realized that I didn't know how long I would have the boys and I can always come back to teaching lessons again later on. BUT I want to be available for them now, while they are here. I want to give them a stable, loving, calm, happy home to be in. If I am stressed and really busy, it is much harder for me to keep up with everything. I want to be able to get them ready for bed each night and take care of them every day. Brad (my husband) has always been supportive of the things I do, but I can tell it is stressful for him when I am teaching lessons all evening. On those busy nights, my daughter will often get lost in the shuffle. She won't get all her homework done and we'll forget to keep track of her allowance and often the house will get messy.

I just want to be able to focus on taking care of my family and home. I want to enjoy the time I have with my children while they are young, but especially knowing that two of my children may pass before they reach adult-hood, makes it all the more important. It was the thing I guess I needed, to realize that I need to let some things go. I know it will get harder as the boys lose more of their abilities. We already have to do pretty much everything for Eli, although he can sometimes entertain himself a bit. And don't get me wrong, I am grateful for the things he can still do! But once we have to take care of both of the boys all the time, especially as their health starts to deteriorate, it will be difficult. Brad will need me available each day and it will have to be a team effort for the whole family.

In the past I've taught up to 20 students at a time as well as directing my youth show choir two sessions a year. I've done a lot of preparation for those show choir sessions, by making practice CDs for them and recording most of the songs myself. When I'm recording those, I of course want them to be good quality, so I have spent hours and hours recording accompaniments, vocals and then polishing them up in the programs. I also spend a good few hours a week in addition to teaching my lessons, planning the lessons and sending out email updates. I decided that I could continue to do Centerstage but only in the spring. That way I will have a lot more time to prepare for it and it won't be such a time crunch for me. Plus that only lasts 2 months and it is over. I wanted to keep that because I feel like there isn't anything quite like it in our area. I feel it is a fun opportunity for the kids to get to learn the music, harmonies and sing solos on stage. Laya is also involved in it and I would want her to be able to continue. Our spring performances have been at the local Pima County Fair. The Fair treats us great. They comp all of the performer's tickets and give them extra free tickets for the performer's family members as well as free parking. The youth have a great time performing and then playing at the fair.

I will also continue my online work through my website, developing my piano teaching workbooks and explanation videos. The good part about that is, I can do it on my own time and there isn't any time restraints or stress involved with those.

I feel pretty much at peace with my decision, although I feel bad letting my students go. I plan on having one last, big, fun Recital at the end of this semester and then getting them set up with other teachers. This decision will be better for our family, I feel confident about that.

8-30-2014 Decisions, realizations- the type of Gm1 I believe my boys have

Today I decided that I need to let go of trying to figure out how long I will have them with me and just be ok with not knowing. This past week, I have been making myself crazy, looking up any information I can find about Gm1 Gangliosidosis. I have been staying up late every night, searching the internet and asking questions to the nice people in the Facebook Gangliosidosis group. Here is some of what I've gathered so far. There are two sub-types of Gm1 type II. (although it is important to note that scientists now think of this disease as more of a spectrum, since there can be a wide variation between types) I was trying to figure out if Eli and Evan have the Late-Infantile or the Juvenile type. From what I can figure out, I believe they have the late-infantile type. Here are the reasons why I think so:

Age of Onset: Late-infantile onset is between ages 1 and 3, and other resources say usually around 18 months. Juvenile seems to be between ages 3-5, but some classify the adult type III as onset between ages 3-30.

Eli's Age of onset - Eli's balance was poor when he started walking at 10 months and continued to be that way for a good 6 months. He might have peaked at 18 months, but he was still behind other kids his age at that time. His speech was very delayed (just said beginning sounds of words). Between age 18 months and 2, he didn't progress at all, and then after age 2, he started to regress. He developed strabismus (his left eye crossed severely), then after eye surgery, his right eye began to cross. After that surgery, both his eyes were still a bit messed up, so they did surgery on both eyes. His eyes look ok, but his left eye now wanders outward (instead of inward, like it used to). He developed kyphosis in his lower lumbar spine. I noticed that around 2 1/2 years old. He didn't progress from 2 on and began to lose skills. He lost most of the little amount of speech skills he had. He lost his fine motor skills he had, he became ataxic and seems very stiff. He now (at age 5) has a difficult time walking, doesn't speak words, but can make sounds, does not have the coordination to feed himself with a spoon or fork, or dress himself. He can walk a little bit, but falls easily. He pushes a walker and it works ok for him. But he is often too tired to walk, so we end up just pushing him in the stroller. He has begun to spit up after eating (reflux) and has started to spit out his water, while drinking. I have noticed him choking on food or water more easily.

Evan's age of onset - Evan has just turned 2 this month and his speech hasn't progressed much between 18 months and age 2. The difference between Evan and Eli, is that Evan hasn't had any of the balance issues that Eli had. Although even at a young age (when Evan was 12 mo) Brad began to become worried about his progression. He has been behind other kids his age speech wise and a little bit cognitively, but not significantly. Now that Evan is 2, he does seem a bit wobbly/clumsy and is falling easily. His mental capacities seem great (We were more worried about Eli's comprehension and receptive language at this age, than we've seen in Evan). Evan's left eye is crossing inward now and sometimes his right eye looks like it is crossing inward as well. He seems so happy and funny right now. But he is behind a bit in his speech and a little bit delayed in his comprehension.

Speech - Another reason why I believe they have the late-infantile is because the examples of people I have found that have the Juvenile type, have been able to talk at some point, but then lost it. Eli never got to the progression of being able to talk with real words instead of approximations. Evan is talking better than Eli did although most of his words are approximations as well, except for probably Uh oh and bye bye, although even those ones sound more like "uh uh" and "bah bah". Lack of speech development is another characteristic of late-infantile Gm1 Gangliosidosis.

The reason why I was trying to figure out if they had late-infantile versus juvenile, is because there seems to be a significant difference between the mortality rate of the two. From what I've read, late-infantile cuties, usually last until mid-childhood (usually defined as ages 6-12) and juvenile last into early adulthood. That is a big difference to me and it could mean 10 less years I will have with them. That's why I felt so much urgency to figure it out. I realize now that things can vary and I need to let go of wanting to know everything.

All I can do is document our experiences, enjoy our lives, and appreciate and be grateful for any time that we get with them. I need to let go of my hopes to control what happens in my life and give up what I wanted to God. What God wants for us is always going to be better than what we had expected or wanted, especially when looking at it through an eternal perspective. He knows what is best and I just hope that Brad and I, as well as Laya and the boys, can get through this beautiful hardship with Faith, Love, Hope and Charity.

Brad shaved the boys' heads ha ha. Now they look like two really big babies. Evan enjoyed cleaning Eli off after the haircut! 

The diagnosis

August 22, 2014 - I was getting in the car to drive to our nearest temple which is 2 hours away. Brad was planning on staying home with the kids, so he had already left to go to the park. As I sat in the car ready to leave, I thought about the fact that by the time I got to the temple and did my service, it would be 7:30 or 8:00pm and I was feeling very tired. I wondered if it would be a good idea for me to go and drive home when I was already feeling so exhausted. I changed my mind and decided I would schedule a time to go early in the morning with less risk involved.
I came back inside and started to clean my house. Shortly after, Dr. Aleck (a biochemical Geneticist we had seen in Phoenix, Arizona) called me. He said "I have a diagnosis for your two boys, but it isn't too good." I felt excited that we would have a diagnosis and then, "but wait, not Evan too?" He told me they had Gm1 Gangliosidosis late-infantile type, based on the age of onset, probably not the juvenile type. He had to spell it for me as I wrote it down. He explained to me that it was a genetic disease that would only manifest when both parents had the recessive gene and passed it along to their children. With each pregnancy you have a 1 in 4 chance of a child manifesting the disorder. He said Laya was most likely a carrier. He told me that Eli is unable to process a certain Enzyme, so his body stores that enzyme in the spinal chord and brain. Over time it builds up and causes nerve damage.
I asked him what it all meant. He said, "In terms of prognosis, it is unlikely that he will make it to adulthood." I paused and my heart sank. He told me he was so sorry that he had to give me this news over the phone. He explained that he thought Evan had it as well and told me we would need to prove it through DNA for both of them, although he was confident in his diagnosis about Eli.

 I proceeded to search the internet and cry and search the internet and cry. Here's some of what I found. 

GM1 Gangliosidosis falls under the following categories: 

Lysosomal Storage Disorder
Genetic Brain Disorder
Inborn Error of Metabolism and Metabolic Disorder

What is it? GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. The three types include: classic infantile (type 1), juvenile (type 2), and adult onset or chronic (type 3). Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types.

Some Signs and Symptoms of Type II Gm1 Gangliosidosis which begin between the ages of 1 and 5.
* Ataxia (Uncoordinated movement is due to a muscle control problem that causes an inability to coordinate movements. It leads to a jerky, unsteady, to-and-fro motion of the middle of the body (trunk) and an unsteady gait (walking style). It can also affect the limbs.)
* Seizures (Eli has had no seizures that we know of)
* Dementia, (Dementia is a loss of brain function that occurs with certain diseases. It affects memory, thinking, language, judgment, and behavior.)
* Difficulties with speech (One characteristic of the late-infantile verses juvenile is that the late-infantile usually don't develop speech, juvenile can often speak pretty well, but then lose that ability. Both Eli and Evan have not developed understandable speech)
* Type 2 typically presents at age 1-2 years with progressive psychomotor retardation.
* Little visceromegaly (is enlargement of the internal organs in the abdomen, such as liver, spleen, stomach, kidneys, or pancreas)
* milder skeletal disease are present compared to the infantile form.

What causes Gm1 Gangliosidosis? Mutations in the GLB1 gene may decrease or eliminate the activity of the β-galactosidase enzyme, which means that the GM1 ganglioside cannot be broken down. As a result, it accumulates to toxic levels in tissues and organs, particularly in the brain. This accumulation then leads to the destruction of nerve cells in the brain, which causes the features of the condition. How is it inherited? GM1 gangliosidosis is inherited in an autosomal recessive manner. Affected individuals inherit 2 mutated copies of the disease-causing gene, one from each parent. Carrier parents (with 1 normal copy and 1 mutated copy) typically are unaffected and do not have any signs or symptoms of the condition.

Likelihood of manifestation:
* When 2 carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier. (it has equal sex distributions between male and female)
* It is important to note that GM1 gangliosidosis is type-specific within families. This means that individuals with a family history of the condition are generally only at increased risk for the specific type of GM1 gangliosidosis in the family.

How is it treated? There is currently no effective medical treatment for GM1 Gangliosidosis. Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition.

Complications
* Patients with Gm1 gangliosidosis are at risk for aspiration pneumonia and recurrent respiratory infections resulting from neurologic compromise.
* Congestive heart failure may result secondary to cardiomyopathy (Cardiomyopathy is a weakening of the heart muscle or another problem with the heart muscle. It often occurs when the heart cannot pump as well as it should, or with other heart function problems. Most patients with cardiomyopathy have heart failure.)
* Atlantoaxial instability - Atlantoaxial instability (AAI) is characterized by excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bony or ligamentous abnormality. Neurologic symptoms occur when the spinal cord is involved. AAI can develop because of abnormally shaped cervical vertebrae. (We know Eli has abnormally shaped vertebrae because of an MRI we have of his spine). If this occurs, patients should be monitored, and they eventually should undergo surgical stabilization to avoid the risk of spinal cord injury.

Prognosis
*Type I - Infantile - Type 1 will usually manifest within the first 6 months of life: Death usually occurs during the second year of life because of infection and cardiopulmonary failure.
* Type 2 - Late Infantile/Juvenile - The late infantile type usually manifests within the first 2-3 years of life, often around 18 months. The juvenile form will usually manifest after age 3 to 5. Type II progresses more slowly than type I, but still causes a shortened life expectancy. People with the late infantile form typically survive into mid-childhood (6-12 years old), while those with the juvenile form may live into early adulthood.
* Type 3 - Adult - Phenotypic variability is marked, but progressive development of neurologic sequelae usually leads to a shortened lifespan.

I reacted to this news by feeling sad, stressing out by searching the internet trying to find answers late at night, crying and over-analyzing. I couldn't think about much else for days. I was hoping and praying that Evan wouldn't have it, but told God that I would accept whatever happened. I didn't have to wait long for my answer.

8-27-2014
My Mother's cousin's wife :) Lori Kunzelman is a radiologist and his been helping me tirelessly for the last month and a half trying to help me get this diagnosis for Eli. She helped me get in to see Dr. Aleck months earlier than what we were scheduled for. She told me about a Clinical trial for this disease going on at the University of Minnesota. They are doing Stem Cell Tranplants for children who could possibly benefit from them.  She encouraged me to email Dr. Aleck and see what he thought about it. I emailed him and instead of emailing me back, he kindly called me later that day to speak with me.

He told me that Dr. Narayanan, a Neurogenetecist in Phoenix who has been conducting a study for families and children with rare genetic disorders, had called him that day. Dr. Narayanan's office had all of our family's blood (we went and saw him back in February), except Laya's and was performing a full DNA genome sequencing study on them, and many other families. He had called Dr. Aleck to tell him that the DNA has proven that Eli and Evan both have the disease. Dr. Aleck told me he was sorry that he had to continually give me bad news over the phone. He encouraged me to look into the stem cell transplant so that we could get all the information we could and then make an educated decision about whether the possible outcome would be worth the risk or not. He proceeded to call Lori Kunzelman and tell her the news as well.

The following days I continued to feel depressed and exhausted emotionally and physically. I continued to tirelessly look up information and ask questions to people who were in a Gangliosidosis Facebook group. It was helpful to have a few long conversations with Brad, family and friends. It helped to write my feelings down and pray and accept. It was helpful to think of how I could make the most of this time I have with my boys and help others who may be in this same situation in the future. I feel now that I have accepted it and am ready to be happy again. I want to enjoy every moment. I know the road will be long, we will have heartbreak and sadness along the way, but we can also be happy. I hope that we will do all we can to stay close to each other and to God. 

Laya: Brad and I told Laya that Eli and Evan both have this disease. All we said was, "Evan has GM1 Gangliosidosis just like Eli and in the future he will become a lot more like Eli." She thought about it for a minute and then said, "Well maybe Evan won't be quite like Eli." We again reiterated the fact that Evan would indeed lose the skills and abilities he has. She then said, "Why do boys always have to have that kind of stuff?" (She was also thinking about another boy in school who has some intellectual disabilities). We explained it wasn't just a boy thing, but she quickly changed the subject and was back to her happy-go-lucky self again.
She doesn't know anything about the fact that her only two siblings will both most likely be gone from us before she reaches adulthood. We won't share that with her until it becomes very apparent and she is older and better equipped to handle these difficult things.

Here is a picture that was taken on Eli's 5th birthday, March 31, 2014.

He came home from preschool with this cute birthday crown taped to his helmet :)

The following pictures were taken very recently, but before the diagnosis. August 16 - Evan's 2nd birthday! 

 Enjoying his chocolate cake!

 Laya told us that we all had to wear our red reunion shirts for Evan's birthday, she set them all out for us the night before. Looking back at the matching pics, I'm glad she arranged our wardrobe for us. :)