Be at Peace, Niamh Lilly Kay Evans

Sweet, beautiful little Niamh lost her battle with Gaucher’s Disease type 2 last week.    She was only 10 months old.   She fought so hard, for every breath, every day of her life.

I met her a few months ago, soon after she was diagnosed.   I felt a real connection with her mom, as she had the same fight and “out-of-the-box” mentality that I do.  She was always looking to see what was out there to see if there was something that could help her Niamh.   She is an amazing mom.

When I asked her mom if she wanted to share something about Niamh,  “what always stood out about Niamh was how she would smile whenever she was shown affection. That she loved music and got really excited if we sang or danced with her. She loved having a massage and a cuddle. She liked to sleep holding on to either dave or my lip. She loved her brother and he would let her play with his hair. when she was struggleing he would stroke her hair. She had a cheeky grin whenever she was able to taste food…particularly chocolate.”

But now this horrible disease has taken another child away.  It is just so not fair.  This beautiful girl deserved a chance at life.

Little Ethan McKown, you will never be forgotten

I haven’t been able to get Little Ethan out of my mind since he passed away last week from Gaucher’s Disease type 2.   When his dad caught me the morning after he passed and told me what happened, it has felt like a knife in my heart.  I know my husband is feeling the same way, as it has been almost a week, and he is still reeling from the reality and senselessness of his death. 

I have received about a dozen or so emails over the past couple of months asking how he has been doing since his mom posted his story on my blog. 

His dad and I have chatted quite a bit over the past few months just keeping up on our kids.   The conversations were very open and sometimes brutually honest, especially between Darren (Little Ethan’s dad) and my husband.  I was grateful for their outlet to talk to each other, as my husband needed to reach out to another dad going through this disease.

I keep thinking about what my friend, Nicole, said after she lost her beautiful son, Greyson, to Krabbes disease at 11 months old.  She said that he finally was able to leave his “broken body” and be free to run, play, and soar.   I hope that he and Little Ethan find each other and run, play, and soar together.

I don’t think I have ever had such a reality check as I did with Little Ethan’s death.  We knew him for 7 months or so.  He is the 7th child to die of this disease since Hannah’s diagnosis that I know of.  

I go through periods when I think how different Hannah is going to be and how she is going to be the one to beat this disease.   Hope makes you believe this; the alternative is not an option at this point.  But then I also think back to Nicole’s comment and relating it to “Hannah’s broken body” because of this disease.

Little Ethan, you will always be in my heart.  I know that I will never, ever forget you. 

Baby J, you will never be forgotten…

Baby J.  He wasn’t even 7 months old.  I emailed with his mom a few weeks ago shortly after he was diagnosed.  Now he is gone.   He had Gaucher’s type 2.  My heart is breaking for his parents, as it just happened so quickly.

I’ve been sitting here with Hannah leaning against me, watching the Wiggles, thanking whoever would listen that she is still here with me.  Thirty minutes, I have been trying to write this post, and in between my tears for J’s family and for Hannah, I just have a hard time putting my feelings into words. 

Being in the rare disease community, we have seen other children lose their battles and their lives to these diseases.  But this is the first time that I knew that Joseph was alive and fighting, and now he is gone.   Does that make any sense?  I don’t make any sense.

This has completely shaken me, literally.   I’m not naive…I see the progression of this disease in Hannah, and now with J…argh!   I don’t even know what to say.   I can’t seem to think of anything else right now.  I don’t know what to do.

Ethan M, 23 months old with Gaucher’s type 2

This is a guest post from Tina M. from Kansas City, Missouri.  She is the mom of Ethan, 23 months old, recently diagnosed with Gaucher’s Type 2.  

When we found out that we were having a little boy, we were ecstatic. The pregnancy was going great. We had no complications until we hit the seven month mark. Then the complications started, and haven’t ended yet. Ethan James McKown was born at 33 weeks. He was 4lbs 2oz and 19inches long. He was a little guy, but we knew right away he was a fighter. He did well in the NICU for 3 weeks and we finally got to take him home on the forth of July 2007.

He always had large stomach but all the doctors in the NICU just simply said “he just has a large belly” and left it at that. We thought it was peculiar but we were so stressed with everything going on in the NICU that we didn’t think much of it at the time. Eventually he would grow out of it, right? We were wrong.

He went through a period where everything seemed to be getting back to normal. He started to get bronchiolitis/ bronchitis with severe double ear infections. We were fighting off every little cold and sniffle he would get. There was one night that we thought we were going to lose him. We knew he had a cold and we had taken him to his pediatrician and he gave us some cold medicine and said to keep and eye on him.

A couple of nights later we put him to bed and notice that he just wasn’t breathing right. We picked him up and tried to get him to respond to us or “liven” up a bit. He just looked at us exhausted, working very hard to breathe. When we couldn’t get him to keep his eyes open or breathe normally we decided we better take him to the ER. We went to the local hospital and it was a nightmare! They are not equipped to deal with a child that fragile and that little.

He was still very petite. Every nurse and every doctor in the ER were in that room. They did chest X-ray’s and everything else and finally made us leave the room because they had to put a breathing tube in. We were torn apart. Even the security guard who escorted us to the waiting room had tears in his eyes. We thought we were going to lose him. We called both of our parents at 2am and told them what was going on and sat and waited. The longest thirty minutes of our lives past by and we were finally allowed back to the room. He looked so helpless and completely drained of everything. The hospital had called for a transport to the area children’s hospital because they didn’t have the equipment to handle Ethan.

The children’s hospital was about a forty-five minute drive away. We got to the children’s hospital and were immediate reassured everything was going to be alright. We were in very good hands then. They admitted him to a room and he had a bad case of bronchitis and the flu on top of it. His poor little body couldn’t keep up but he sure was fighting hard! We were there for about a week and were released to go home.

Over the next 6 months or so we were in and out of the hospital at least once a month with respiratory issues, lack of weight gain, and various other issues.

Finally in April 2008 they admitted Ethan for failure to thrive and said that he wasn’t leaving until they found out what was wrong. They ran hundreds of tests in the week we were there. They first thought he had Cystic Fibrosis, but that test was negative. They drew more blood and finally told us we could go home because they would have to wait on results from some of the tests.

A week or two after we went home, we received a call stated plainly that we had an appointment in genetics the following week. That was it. No explanation, no reasoning, nothing.

May 5, 2008 two days after my husband’s 25th birthday our lives change forever. We met with Ethan’s genetics doctor and counselor and learned that he had Gaucher Disease. We had never heard of it and had no idea what we were up against. I have never felt so helpless or heartbroken in my life. They weren’t sure which type he had, but since he presented symptoms so early and already had neurological side effects, they were leaning towards type II but were hoping for Type III.

The next week he went into surgery to get a port placed so he could receive enzyme replacement therapy. We had quite the scare when he had trouble breathing after the sedation. About three weeks later, we received the results from his Type testing. While we were in the hospital with pneumonia, we found out that he had a homozygous L444P mutation. He had type III. We were so happy we cried that day. There was a chance for him. He would at least get treatment and hopefully live a healthy happy live. He was doing well with his treatments and everything was starting to get on track. He still wasn’t gaining weight, but his levels were good. Everything seemed to be looking up for us.

I went to visit my brother in Topeka, KS which is about an hour away. Ethan would have breath holding spells, but none were as bad as that night. He went into a fit while grandma was feeding him. I took him from her and he stopped breathing. I immediately started CPR and tried to get him back. My brother called an ambulance but I luckily got him breathing again before they arrived. That was the longest three and half minutes of my life!

After this episode, they scheduled a sleep study and realized that it was very dangerous for him to sleep. He would wake up about twenty times an hour because he would stop breathing. He was only getting two minutes of REM sleep a night. It was no wonder he wasn’t gaining weight. He was burning calories even when he was trying to sleep.

After seeing the results, the ENT clinic said that it was probably a good idea to have a tracheostomy tube put in. We were completely caught off guard with this. We didn’t know what to say but we had no choice. The risk of our son dying in his sleep was too high; we had to do the surgery. The scheduled it for the following day. They also did a surgery on his eyes to fix his strabismus.

When we saw him in the ICU after the surgery, I wanted to scoop him up in my arms and just go home. All we knew was our son was laying there with a tube in his throat to breathe through and blood filled tears. It was the most heart wrenching sight. He looked at us so confused. He couldn’t figure out why he couldn’t call out to us. He was trying to talk but no sound was coming out. His eyes would fill with tears which just made it worse. It is so hard to know that we won’t be able to hear his laugh again. We miss that more than anything.

He spent five days in the ICU and then another week on a floor before we were trained enough on how to take care of him.

A week before Christmas 2008, we went home and turned his nursery into a hospital room. We have oxygen sensors, liquid oxygen tanks, suction machine, CPR equipment, humidification machine. The list goes on. He started sleeping better and finally began to put on some weight, but not much.

In March of 2009 we had a gastrostomy tube placed and a nissen fundoplication because his acid reflux was so bad. He started to consistently gain weight and was doing better.

In April of 2009, they decided to send our blood off for more genetic testing because he was not responding to the treatments like a typical Type III patient would. We received the results a few weeks later. The results were not good. Ethan in fact has one copy of L444P gene and one copy of L444P, A456P, and V460V:1497G>C gene. His genetics doctors have never seen this variant of the disease before.

Ethan has Type II Gaucher Disease. Our world has changed forever. We just found out that our son probably will not live to see his third birthday.

We will be forced to stop his enzyme replacement therapy and he will slowly begin to fade away from us. We cannot understand why they will not allow us to continue the treatment when it seems to be doing him good. Why must they give up on our son?

Jordell…The beginning

Guest post by Nichole, Mom to Jordell with Gaucher’s Disease type 3

Jordell was always a normal little boy but seemed to have a big tummy and was sick alot. All the doctors said it was normal and he would just grow into his tummy. When he went for his 18 month check up I asked the doctor once again and he felt it and knew that something wasnt right so Jordell had an ultrasound 2 days later and they found out he had a very massive spleen. They got him into Blank Childern’s Hospital in Des Moines, Iowa.

They wanted to wait a few months but when I got on the computer and looked why someone would have an enlarged spleen everything pointed to leukemia. As any worried mother would do I fought my hardest to get him in as soon as possible so they got ahold of the doctor and wanted to see him the next day. So we traveled the 2 hours that night and got right in the next morning.

They did a bone marrow biopsy and the doctor told me that we wouldnt go home untill he could tell me whats wrong with him. So went had to stay in the hospital and I was very nervous all day and finally he came in and told me that Jordell had leukemia, my heart sank. Right away we started talking about Chemotherapy. Jordell had surgery on Feburary 22, 2008 to have a port placed in his chest and got a dose of interthecal chemotherapy. He was going to start Chemo that night but then the doctor came in and said they didnt think he had leukemia.

After that they ran more tests and everything came back negitive. The doctor then got ahold of another doctor in Rochester, Minnesota and thought they could find out what was wrong so we went by ambulance 3 and a half hours in the snow and ice. That was not a fun ride! When we got there, right away they started running more tests. I have never seen so many doctors in my life, I think there was every kind of doctor you could ever think of come in and out of his room. They decided to send us home since in was Friday and they couldnt really do much over the weekend but we had to come back Monday. But we were very excited to go home and sleep in our own beds for a couple nights!!

So we went back Monday and did some more tests and found out other ones came back negative. Still confused about whats going on. We went home Tuesday the 4th and had an appointment for Friday the 14th set up in Iowa City, Iowa and hopefully by then we would know what it was that was wrong.

On March 13th I got a call that said Jordell had Gaucher Disease. They werent sure what type yet but I was relived to have a diagnosis but also scared because I didnt know much about Gaucher Disease. Thankfully we went to Iowa City the next day!