Archives for May 2009

National Institute of Health visit almost set!

15 May by Mommy

We have a date for our NIH visit to meet Dr. Ellen Sidransky and her team, including Dr. Ozlem Goker-Alpan.   July 13th through July 18th. 

We’d have to leave Monday evening since Hannah has her Cerezyme treatment at TCH that morning, and we USUALLY get out of there by 1:00 PM, but after last week’s delay, we didn’t get out of there until 2 PM because the pharmacy was late.  So, we want to make sure we have time to make it.  We would return home that Saturday. 

They had first mentioned keeping Hannah in the hospital during our 5-day visit, but I asked if we could please stay at the Children’s Inn there so we could be more comfortable and have freedom to just move around.  I can’t imagine keeping her cooped up in a hospital crib for five days, especially if she isn’t being treated for anything!

I’m really looking forward to meeting Dr. Sidransky, as I have talked to her on the phone a few times.   She sounds like a very impressive and passionate doctor.  She has been studying GD2 and GD3 for many, many years.  They really want to see Hannah since she this new mutation is pretty rare and never seen in combination with the 84gg.  Because the D409H carries cardiac problems associated with it, she agrees that we need to have an echocardiogram for Hannah as well as check for minor hydrocephalus.  They also want to do the skin biopsy to see if they can tell type 2 or type 3 as well as a couple of other studies.

As I mentioned before, my aunt and uncle live a block away from the NIH, so we will have family close by, which is great.  Daddy is really disappointed he can’t go, but he just can’t take any more time off of work.  Also, we just can’t afford to bring Abby and Ethan with us (even though me and Hannah would be paid for), so Daddy will stay home with them. 

What is interesting is one week after we get back from the NIH, Hannah will be turning ONE YEAR OLD!  What a milestone we hit!

~ Filed Under: Hannah's Fight Tagged With: , ,

Physical Therapy, SureStep, and Supramalleolar Orthosis

14 May by Mommy

We started physical therapy at TCH yesterday. During her assessment last week, she was found to have “scattered skills,” meaning that her skills ranged from the 4-month level to the 8-month level. She has incredible upper boddy chest strength but incredibly poor abdominal and trunk strength, which is what is possibly causing most of her skill setbacks because she is using the wrong part of her body to do certain tasks.

Common sense tells us that because her abdomen was so huge that she compensated by using her upper body and her shoulders to get done what she wanted to do. Explains why she can sit, but she can’t get to a sitting position or crawl.

Today, Pam, her therapist, also noticed that she has low tone in her lower legs and ankles as well as no arches in her feet. When she stands, she rolls her ankles or angles out her feet to try and balance.

Mommy and Hannah’s homework:  The homework for this week is:  1) positioning Hannah in sitting with her hips leveled with or slightly higher than her knees to facilitate weight bearing through her legs ; 2) encouraging Hannah to lean her trunk forward when moving into the stance position so that her body weight is shifted anteriorly onto her forefoot, bilaterally, instead of her heels; and 3) encouraging Hannah to stand while holding on to facilitate balance reactions in the stance position.

So, she wants Hannah to get orthopedic high-top shoes called Supramalleolar Orthosis (SMOs) from SureStep.  They are similar to the picture on the left.   “The SureStep system is designed around the child with low muscle tone. It is a truly remarkable early intervention tool to help stabilize and align the lower extremities of children with hypotonia.”

The cost of these custom-fitting orthotics?  $1300 A PAIR (made by a local company because they are “custom”)!  And she would probably need a new pair EVERY 6 WEEKS until she figures it out on her own.  I hope our insurance company will cover it because there is no way we can afford these.  Pam is going to write a medical letter of necessity and ask Dr. B., our pediatrician, to write a prescription for them.

We’ll see how that works out…

~ Filed Under: Hannah's Fight Tagged With: , ,

10-year-study solidifies strong link between Gaucher’s Disease and Parkinson’s Disease

13 May by Mommy

Today is an INCREDIBLE day in the world of Gaucher’s Disease!  Two very important studies came out in the past day or two that have not only proven the strong link between Parkinson’s Disease and Gaucher’s Disease, but they will also open the eyes of many Parkinson researchers and biopharmaceuticals towards Gaucher’s Disease!  

Is GD23 similar to a “childhood Parkinson’s Disease?”  Now that this genetic link between PD and GD is here, it is time for researchers to realize that researching the babies of Gaucher’s disease with the neuronopathic type is critical to understanding Parkinson’s disease.  Gaucher’s Diseases types 2 and 3 share so many of the same symptoms as Parkinson’s disease such as supranuclear gaze palsy, balance problems, fine and gross motor problems, fatigue, and swallowing problems.  It cannot be just a coincidence that these two disease share so many of the same symptoms!

It is time to reach out to organizations such as the Michael J Fox foundation, the National Parkinson foundation, and the Parkinson Disease Foundation and say “Hey, our kids may hold the key to understanding your disease!”  

Not only that, but the pharmaceutical companies that make Parkinson’s medications such as Sinemet, Stalevo, Parcopa, Cogentin, Artane, Eldepryl, Zelepar, and Azilect need to be looked at more closely to see if there is something within those medications that can be reformulated and used to possibly help our gaucher kids!

Association between Mutations in the Lysosomal Protein Glucocerebrosidase and Parkinsonism
A body of work has emerged over the past decade demonstrating a relationship between mutations in glucocerebrosidase gene (GBA), the gene implicated in Gaucher disease (GD), and the development of parkinsonism. Several different lines of research support this relationship. First, patients with GD who are homozygous for mutations in GBA have a higher than expected propensity to develop Parkinson’s disease (PD). Furthermore, carriers of GBA mutations, particularly family members of patients with GD, have displayed an increased rate of parkinsonism. Subsequently, investigators from centers around the world screened cohorts of patients with parkinsonism for GBA mutations and found that overall, subjects with PD, as well as other Lewy body disorders, have at least a fivefold increase in the number of carriers of GBA mutations as compared to age-matched controls. In addition, neuropathologic studies of subjects with parkinsonism carrying GBA mutations demonstrate Lewy bodies, depletion of neurons of the substantia nigra, and involvement of hippocampal layers CA2-4. Although the basis for this association has yet to be elucidated, evidence continues to support the role of GBA as a PD risk factor across different centers, synucleinopathies, and ethnicities. Further studies of the association between GD and parkinsonism will stimulate new insights into the pathophysiology of the two disorders and will prove crucial for both genetic counseling of patients and family members and the design of relevant therapeutic strategies for specific patients with parkinsonism. © 2009 Movement Disorder Society

Researchers believe they have found genetic cause for Parkinson’s disease
A team led by Shoji Tsuji of the University of Tokyo, and Tatsushi Toda of Kobe University discovered that those with a mutation in a gene called GBA are 28 times more likely to contract Parkinson’s disease. They now hope to use their finding to explain exactly how the disease is caused, and develop a treatment.

There are an estimated 150,000 cases of Parkinson’s disease in Japan. In 90 percent of the cases, however, they are the only members of the family to contract the condition, and the genetic component of the disease has never been identified.  However, the team noticed that the GBA gene, which is responsible for causing an unusual condition called Gaucher’s disease, also showed a mutation in those with Parkinson’s disease. They examined 534 Parkinson’s patients and 544 healthy people, and found that 9.4 percent of those with the mutation suffered from the disease, and just 0.4 percent did not. They also discovered that those with the GBA mutation contracted the disease around six years earlier than those without.

“It’s the first time that a risk factor has been this clearly identified,” said Tsuji.

~ Filed Under: Hannah's Fight Tagged With: ,

Grey’s Gift — Texas, support a common-sense law!

13 May by Mommy

This is a guest post from Nicole, Greyson’s mom.  Greyson lost his battle with Krabbes disease a few months ago at 11 months old.  His life could have been saved if the state of Texas screened Greyson at birth for Krabbes.  He could have been treated, and he would still be here today if he was!  Greyson’s parents are fighting to get the Texas newborn screening laws changed.  They need our help!

HB 1795 passed unanimously in the House today!

However, Lt. Gov. Dewhurst placed it on the Intent calendar in the Senate due to it’s fiscal note, which now includes CF. He has decided to put it up for debate on the Senate floor tomorrow. Please show your support of SB1720-Greyson’s Law by emailing or calling Lt. Gov. Dewhurst before 11 am.

 You can contact his policy advisor at:
Jamie.Dudensing@ltgov.state.tx.us
(512)463-0001.

~ Filed Under: Random Thoughts, Rare Disease Tagged With: , ,

Happy Mom’s Day

10 May by Mommy

This Mother’s Day is bittersweet for me. I’m so glad that I will be able to spend it with my hubby and my three children. Hannah is still stable, thank goodness. We will be adding more therapies into her routine due to developmental delays, but she is still a very happy and smiling baby!

But I reflect on this holiday, and I can’t help but wonder what next Mother’s Day is going to be like. Will Hannah even be here with us? Will she still be stable? Will her condition progressively deteriorate?

As a mom, our “job” is to prepare our children for the future. I do that with Ethan and Abby. I admit that I don’t do that with Hannah, as I don’t think my heart will allow it. With Hannah, I just love her as much as I can and give her all the cuddles, snuggles, and kisses I can. The same rules just don’t apply when you are faced with losing your child to a horribly debilitating disease like neuronopathic Gaucher’s disease.

But I am now finding that I am not alone fighting this disease, as I have found 10 other families with children still fighting this disease as well as a number of families who have lost their children to this disease, including little Josephine who passed away a couple of months ago at the age of 9 months old with Gaucher’s type 2.

Hannah is 9 months old…

You can meet some of the other families with children fighting this disease by clicking the GD23 link at on the top bar.  Their stories are so important. Hannah is not alone. I am asking your help to continue to fight for Hannah, but also to join the fight for the other children.  Fight so that other moms can have their child home with them next Mother’s day and not worry about losing them.

Please help my daughter live. Please help the other children with Gaucher’s type 2 and 3 live.   Please help me fight to keep Hannah here and as healthy as possible for my  next Mother’s day.

~ Filed Under: Hannah's Fight

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

10 May by Mommy

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.  

Ethan1When 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.

Ethan2The 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.

Ethan3I 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?

~ Filed Under: Hannah's Fight Tagged With: ,
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