2Q35DELETION.COM

Wednesday October 21

Jeff — Wed, 21 Oct 2009 23:15:00 GMT

Hello all...we are back again.

Andrew has been progressing nicely. He has started scooting around the house on his butt and propelling himself with his arms.

When Andrew is laying down he uses his arms to push his body up and then sits up. This is a much newer activity and we are very excited for him. This is his first step to being able to sit up completely. Next step is to have him sit up from a lying position on his back.

Tomorrow, we are going again to see a neurologist at Children's Hospital because lately he has been shaking his head slightly. This shaking activity seems to happen more and more. We will keep you posted on the appointment.

Andrew still does not walk, talk, crawl or eat solid foods.

Regards,

Lara and Jeff

Monday July 20, 2009

Jeff — Tue, 21 Jul 2009 02:39:00 GMT

Good Evening,

Andrew has a new nickname, "Scooter." The reason we gave him this name is that he started to scoot around the house on his butt. He moves around by sitting and using his arms to pull himself forward. For the most part, he moves around when he sees toys he wants to get. This is so cool because this behavior indicates that he wants to move. He is still not crawling or walking yet.

Andrew went to the eye doctor last week. The doctor says his right eye is weaker than his left eye. Also, the doctor left his prescription alone...so we don't need to get new glasses.

That is it for now. We will be away next week on a Bermuda Cruise.

I will write about Andrew's experience on our trip when we get back.

Regards,

Jeff

Wednesday July 8, 2009

Jeff — Wed, 08 Jul 2009 11:15:00 GMT

Good morning,

July 4th was wonderful. We went to a friend's house for the night. The rest of the week has been pretty quiet. Andrew continues with his therapy and is making good progress.

Soon Andrew will be going to his eye doctor. This will be a longer appointment where his eyes will be dilated and the doctor will check his eyesight and vision.

I will continue to provide any new information about Andrew each week. Have a great rest of the week.

Regards,

Jeff

Thursday July 02, 2009

Jeff — Thu, 02 Jul 2009 11:01:29 GMT

Good Morning,

It has been raining for days...so much rain that in New England there has seen more rain than sun in the late spring early summer time frame. Amidst all the rain and fog there is GREAT NEWS! Medicaid approved Andrew's growth hormone shots for the next year. The reason the approval process took so long is the doctor and the pharmacy was not talking to the right folks within the Medicaid system. It turns out that Medicaid uses a third party company to review and approve all claims. Now I have the phone number to the third party company and will be able to direct all pre-approval requests to the right group. This is one more item taken care of...on to the next battle.

Other news in the world of Andrew Marx. In the last week, Andrew has started to slither on the floor. Andrew looks like a snake on his stomach moving forward on the floor. He may move only a foot or less when he goes forward, however, this is a great achievement. Andrew has only slithered a few times. His therapists think he may be ready to crawl soon. Hopefully his muscles will be able to support his weight.

Here ia a picture of Andrew on the way home from his first haircut.

To all our family, extended family and friends following the Andrew Marx blog, have a safe and wonderful July 4th. Take this time to appreciate all you have in this world that is good. Lara and I are thankful for our families, friends and our terrific children. We have learned that each of the kids are special in their own ways.

Regards,

Jeff

Thursday July 02, 2009

Jeff — Thu, 02 Jul 2009 10:38:00 GMT

Good Morning,

It has been raining for days...so much rain that in New England there has seen more rain than sun in the late spring early summer time frame. Amidst all the rain and fog there is GREAT NEWS! Medicaid approved Andrew's growth hormone shots for the next year. The reason the approval process took so long is the doctor and the pharmacy was not talking to the right folks within the Medicaid system. It turns out that Medicaid uses a third party company to review and approve all claims. Now I have the phone number to the third party company and will be able to direct all pre-approval requests to the right group. This is one more item taken care of...on to the next battle.

Other news in the world of Andrew Marx. In the last week, Andrew has started to slither on the floor. Andrew looks like a snake on his stomach moving forward on the floor. He may move only a foot or less when he goes forward, however, this is a great achievement. Andrew has only slithered a few times. His therapists think he may be ready to crawl soon. Hopefully his muscles will be able to support his weight.`

To all our family, extended family and friends following the Andrew Marx blog, have a safe and wonderful July 4th. Take this time to appreciate all you have in this world that is good. Lara and I are thankful for our families, friends and our terrific children. We have learned that each of the kids are special in their own ways.

Regards,

Jeff

Tuesday June 23, 2009

Jeff — Tue, 23 Jun 2009 10:51:00 GMT

Good morning,

Andrew's next doctor appointment is next month to have his eyes checked.
Andrew continues with his therapy sessions at Northeast Rehab.

Yesterday, Andrew's geneticist called to provide the results of the latest genetic test. Unfortunately, the test did not provide any new information. The test results will be sent to us this week via snail mail. I will review the results and share any relevant information.

I will share with all of you my frustration with the insurance companies and the state Medicaid system. We give Andrew hormone shots every night. The cost of the supplies and hormones were covered by our primary insurance company, Anthem Blue Cross Blue Shield and Andrew's Medicaid provided by NH. A couple weeks ago, Lara received a phone call informing her Andrew maxed out his medical/pharmacy benefit for the year. The max is $2000.

I am a systems contractor and have to purchase individual health insurance. The insurance doesn't cover much considering the high cost of the premiums.

When we first learned about Andrew's condition, we were advised to apply for NH Medicaid. Andrew qualified within a month after applying based on all the records we provided NH Health and Human Services. We have been working with Medicaid to have the program cover the cost of the hormones and supplies in full. We have been waiting almost 2 weeks for an answer form the program. This is where we get stuck in bureaucratic, red tape hell where administrators with little knowledge try and play G-D with our son's health. They need to make a decision so we can move forward.

Also, this country needs real and thoughtful healthcare reform. Our primary insurance company has agreements with medical providers to pay less than they actual bill. In other words, if we were to pay the bill, we may pay 2 to 3 times more than the amount the insurance company pays the medical providers. That is incriminating to pass on overinflated costs to average consumers.

Right now we are using the last hormone cartridge with enough hormone medicine for 6 shots. Hopefully, everything will be settled this week so we can continue with his shots without interruption.

Regards,

Jeff M

Monday June 15, 2009

Jeff — Mon, 15 Jun 2009 11:01:00 GMT

Good morning,

Last Monday, Lara took Andrew for another genetic test. The phlebotomist took blood from Andrew and then sent the sample to a special genetics lab in Washington (state) to be analyzed. According to Andrew's geneticist, this test should provide more information about Andrew's rare condition. We are just waiting for the results and analysis.

Last Friday, Andrew pulled himself up with the help of his therapist. Then he took a couple assisted steps; he was holding the therapist's hands. This is truly awesome. We are so proud of Andrew and his progress. Hopefully, he will be strong enough to walk on his own soon.

Regards,

Jeff

Monday June 8, 2009

Jeff — Mon, 08 Jun 2009 11:51:00 GMT

Good morning.

Not a whole lot has happened in the last week. Andrew continues his therapy sessions at Northeast Rehab. He is doing well with the pool therapy.

Andrew continues to use his walker and moving everywhere in the house. He does a great job.

Lara and I have taken Andrew off of the stage 3 foods. We are feeding him some of each of our meals. However, we have to prepare the food in a special way for him. We chop up all meats, vegetables and fruits into small bites. then we use a binders with the food like plain yogurt, sour cream, mayonnaise, cream of mushroom soup or a combination of these ingredients. The binders help the food go down his throat and it adds mega calories. This helps Andrew as he hasn't gained any weight since January. Although, he has grown a couple inches since then due in part to the growth hormone shots. Lara and I joked about writing a recipe book with all of our culinary concoctions or we may just add a food section to the web site. These are all calorie packed and nutritious recipes appropriate for any child needing to add weight.

Andrew has been fighting us when we feed him and give him milk. We continue to work with him on different food combinations. Hopefully, we can get him to consistently eat.

Regards,

Jeff

Sunday May 31, 2009

Jeff — Sun, 31 May 2009 23:26:00 GMT

Good Evening,

Andrew started his pool therapy this week. Andrew liked being in the water with his new therapist. He will continue to have the pool therapy weekly.

Last Friday, Lara and I had a meeting with his occupational therapist, his feeding therapist and his nutritionist. We discussed Andrew's progress eating new foods. The outcome of the meeting is as follows:

Andrew is now on Whole milk; no longer drinking his special formula. Assuming he takes to the milk, we will add on packet of Carnation Instant Breakfast to his sippy cups each day. If he does not like the milk, or will not take it, then we may need to move onto soy milk. So far Andrew has been fighting drinking the milk. He takes about 4 ounces each feeding and he gets 3 sippy cups per day.

This week we will continue to give him the milk and watch him for any allergies. We are starting to share our dinners with him by taking a small portion of each dinner we eat and blending it to a smoother consistency. That becomes a portion of Andrew's Dinners.

Until next week.

Regards,

Jeff

Saturday May 23, 2009

Jeff — Sat, 23 May 2009 22:31:00 GMT

Good evening,

Andrew is very lucky...he can keep the walker until Easter Seals needs it back. He enjoys using the walker going all over the downstairs of our house. He moves everywhere. Andrew is now an expert with the walker.

Starting next week, Andrew will have pool therapy. This is exciting because he won't have to fight with gravity to use his muscles. Maybe this new therapy will bring him closer to walking.

Andrew still enjoys using the sippy cup...way to go son!

Not a whole lot to say this week. Andrew is till a champ considering all he goes through. One note. Mom is also a champ because she deal with all of his tantrums and his fits. She is the best!!!!

Regards,

Jeff

Saturday May 16

Jeff — Sat, 16 May 2009 11:45:00 GMT

Good morning,

Andrew has been going to Northeast Rehab for a couple weeks. The therapists are great there. Andrew seems to responding to their therapy sessions.

His glasses are back from the lab. Andrew is doing much better now that he can see again; less squinting and not as much whining from him.

Andrew has been eating more food like Easy MAc Macaroni and Cheese, more stage 3 baby food and a lot more cereal. He has 3 solid meals a day. We are very close to getting him off the formula and putting him on milk. His nutritionist will make that decision very soon.

Overall, Andrew is progressing slowly, however, still moving forward. We were able to keep the walker for an additional week. He has been using the walker everyday with great results. Soon we will have the parts for the other walker we have. then Andrew will have a permanent walker here. Hopefully Andrew will be strong enough to walk sooner than later. I hope this happens since he is getting heavy and it is hard to carry him all the time.

Also, his blood work came back from the endocrinologist. She asked us to increase the dosage of the growth hormone shots. We still give him one shot a night. He seems to be very comfortable with the needle and the pen; he doesn't scream anymore when he sees both.

Regards,

Jeff

Wednesday May 6, 2009

Jeff — Wed, 06 May 2009 11:06:00 GMT

Good morning,

Andrew is babbling more making lots of noise. Although he is not talking yet, he is moving toward the point where me may speak real words. The therapist has been incorporating sign language into Andrew's therapy sessions. Lara has started to use the sign language to communicate with him. Andrew doesn't appear to understand the sign language, however, we hope he may communicate with us in a non-verbal way until he can talk.

Yesterday, the therapist brought Andrew a new walker. Lara was told that we can use it for a week and then Easter Seals needs to take back the walker. Recently, a friend let us borrow his daughter's old walker,. Unfortunately we will need to get special add-ons to make the walker usable for Andrew. Someone from Easter Seals is coming to the house to help us determine the add-ons, needed and then they can get ordered. We should be able to use the other walker once the current one is returned. Here is a picture of Andrew in the the walker inside our house.

Regards,

Jeff

Friday May 1, 2009

Jeff — Fri, 01 May 2009 11:26:00 GMT

Good morning,

This past week Andrew started eating Cheerios and stage 3 baby food. We still need to put the Cheerios in his mouth. Lara threw out all of the baby bottles. Andrew only drinks from a sippy cup. The adjustment to the cup was hard, however, it will be good for his speech development.

We are still waiting for Andrew's glasses to be ready. Once he has his glasses, he will stop squinting and his eyes will probably feel better.

BIG NEWS! The web site and blog are now listed with Google. This morning I read a comment on the blog from a mother with a son living with a different deletion. Both her son And Andrew are the only ones with their respective deletions. It touches my heart to know this site is reaching other people in the world. Through the site and blog, I hope to continue to promote Andrew's rare chromosome disorder. In addition, the site can bring other chromosome disorders to light. Eventually, this work may prompt scientists, researchers and doctors to look for ways to help these children with new and developing technologies.

Regards,

Jeff

Saturday April 25, 2009

Jeff — Sat, 25 Apr 2009 13:35:00 GMT

Good morning,

A week ago Friday, Andrew's glasses went MIA (missing In Action). Not sure how they disappeared. His new glasses are on order and should be in within the next week. For now, Andrew has been squinting a lot. It is hard to watch him struggle so hard to see.

Last Thursday, Andrew went for a speech evaluation at Northeast Rehab in Salem, NH. A speech pathologist determined that Andrew should receive speech therapy services starting next week. In addition, Andrew will also receive PT and OT therapy at Northeast Rehab as soon as the appropriate therapists have openings.

This morning. Andrew and I worked on his standing. He was able to stand for 1 second without any support. That is a great accomplishment for him.

Lara and I fed Andrew with a sippy cup this morning. He fought us hard because he is not used to the cup. However, he was able to drink 3.5 ounces from the cup. We are going to put all of the bottles away and only have him use a sippy cup.. This is necessary because the speech pathologist feels that Andrew has a better chance of talking once he is off the bottle.

Today we are going to the Stone Zoo. Maybe we will take few pictures and add them to the web site.

Regards,

Jeff

Tuesday

Jeff — Tue, 21 Apr 2009 22:41:00 GMT

The website and blog are up and running. I still need to add more medical and scientific information/ links on the site.

This past weekend I had a small breakthrough. I discovered the Chromosome Disorder Outreach (CDO) group. This is a non-profit organization dedicated to helping families with different chromosomal disorders. When I was reviewing the chromosome 2 listed disorders, I found another 2q35deletion. I sent an email to CDO, registered on their site and they provided me with a few names of families with similar issues. One of the families has a little girl with a 2q35 deletion, however, their daughter's karyotype is 46,XX,del(2)(q35). This means 2q is deleted from q35 to the end of 2q. The deletion is much larger than Andrew's deletion. Also, she has more complications than him.. I contacted them last night via email. We should continue to correspond.

The CDO has also agreed to let me add some of their information about chromosome 2 issues onto our website.

Other updates.... Andrew has a speech evaluation on Thursday. Hopefully, we get some valuable information. Maybe they will find a speech pathologist to work with him so he will start talking.

We continue to stand him up and encourage him to try to take baby steps. Since Andrew has been on his growth hormone shots, his trunk and legs have been getting stronger.

That is it for now...will write soon.

Regards,

Jeff

Welcome to Andrew's new blog

Jeff — Sat, 18 Apr 2009 18:29:00 GMT

I am Jeff Marx, Andrew's father. This is the inaugural posting. The blog is dedicated to Andrew Marx and his 2q35 deletion.

Lara (my wife) and I will add blog entries sharing Andrew's progress as he continues to live with his genetic condition.

We understand there are many families out there raising children with unique genetic disorders. Just know that we also have a unique child. We hope in time to find others with the same or similar genetic condition. Then we can be a resource for each other.

Feel free to add comments at any time.

Warmest Regards,

Jeff M

Welcome

Jeff — Fri, 17 Apr 2009 08:03:56 GMT

Welcome to my blog. Please check back soon for new entries.