Dear Madison,

I am not sure where even to begin and I am sure this letter will be very jumbled by the time I am finished…

I wanted to share with you some of my feelings, thoughts, and history like I did with artist Angie, about Layla and myself and let you know how you truly amzing your organization is and how much you have touched my family.

Layla was a healthy beautiful 8 lb 3 oz baby born on September 29, 2010. She couldn’t have been more perfect.

She developed jaundice 3 days after birth and had to be readmitted for 3 days and her bilirubin levels remained high for 2 more weeks so she continued light therapy at home. I knew jaundice was pretty normal because both of my twins had it and it cleared right up, but Layla’s was different. To this day it doesn’t sit right in the way she was treated medically (but its the past now).

Once home Layla was extremely “colicky”. The pediatrician we had at the time insisted she was fine and would grow out of it. In my gut I knew there was more. She was always way behind on the growth charts, had extreme vomiting, severe feeding issues, and I was naive and trusting.

Finally at 12 months we changed family doctors and the ball quickly began rolling. Layla began feeding therapy and the specialty referrals started piling up. Initially she was diagnosed with only hypotonia from Developmental Pediatricss, then her GI doctor added an anterior displaced anus (should have been diagnosed at birth), heart murmur (also at birth) from Cardiology, and severely developmentally delayed.

She started physical therapy, saw Neurology, began genetic testing and endocrinology right around the same time last year (August-September) and that’s when our world began to crumble. Because Layla has freckles all over her body and cafe oles, short stature, failure to thrive, large head… 2 things came to their mind to test for Neurofibromatosis Type 1 and LEOPARD Syndrome; which are VERY similar in so many areas.

While we waited on the blood test results to come in, Layla underwent a full skeltal survey, MRI of her brain and a Grown Hormone Stimulus test. Her X-ray was normal, MRI revealed a rare unknown lesion that 2 neurosurgeons cannot agree on (2.2 cm near Brocas area), and her GH levels were extremely low, lower than any kids her Endocrinologist has seen with the PTPN11 mutation. So she began Growth Hormone injections January 4th.

Because GH does more than just make you grow, it helps many body functions, including digestion, she may be on it her whole life. So in November Layla’s test results came back and confirmed the LEOPARD Syndrome with the PTPN11 mutation, but she also has a variation for NF1 (my husbands cousin has NF1) so hers may not be a random variation.

Her doctors have never seen a child with both diagnosis but since they overlap clinically it can happen that a child can be misdiagnosed. Obviously, I pray that is not the case but NF1 comes with more hurdles so we have to be prepared. Her Endocrinologist has not disregarded the NF1 diagnosis and states it is “unknown significance at this time” which he explains we will know more closer to puberty.

In February, Layla had a cardiologist follow up exam and echo. It revealed she has mild thickening in 3 places as well as a PFO and her heart sits on a different axis. Heart issues are the biggest concerns with this genetic disorder.She also had an audiologist exam and responded poor to the low tones. She is also at higher risk for hearing loss; which we are beginning to see. It seems like every appointment reveals something new, although I am not surprised when I hear about the results because I read all the literature the doctors give me so I know the possibilities.

So her next Neurosurgery visit is June 3rd and 4th at Seattle Children’s where she will have MRIs of her brain and spine. They will present to the tumor and radiology boards as well and will develop a plan. We are hoping to continue for a 6 month follow up with new scans, but if there is any growth or swelling we know the plan will be different. We are also hoping for a name for the mass this appointment. The first Neurosurgeon she saw named it a Nurenteric Cyst, which usually only appears in the spine and is extremely rare, but Seattle doesn’t feel confident to name it that at all and is completely baffled by the way it images.

We have always said Layla is one of a kind and she proves over and over again she truly is. When you look at her you would never know she has so much medically going on, but we know so much can change with the drop of a hat. Which is probably why it has been so been so hard the past few months to cope/mourn/grieve with all of the news.
In February, we applied for Katie Beckett here in Idaho for Layla, which is the only assistance Idaho offers for middle class. Her delay was 3% too high and they would not even review her medical records or diagnosis information because she doesn’t require to be hospitalized at this point. Needless to say my husband and I were/are extremely devastated and frustrated at our system.

Long story short… My point of saying that was that when you approved Layla’s application for shoes, it was such a symbolic event. To me, it was the fact that someone other than her doctors and my family acknowledge that fact that her genetic disorder is serious and the issues that come along with it, not to mention the mass in her brain. You acknowledged the fact that Layla has been though so much and goes though so much on a daily basis. I want to thank you from the bottom of my heart for acknowledging that my daughter’s disorder isn’t her fault or mine. She was just dealt these cards and we are all trying to help her with the hand she was dealt. She absolutely loves her shoes and finally has some pretty pink shoes her orthotics fit into. She’s in love and so am I. Not to mention the Peach bead, MaxLove hat, Minnie Cape, and little knit stuffed animal toy. You Rock!!

So I have been thinking about our RAK and was thinking about making a bulk order of your amazing coloring books and take with us to Seattle Children’s in June and share with the kiddos there. What do you think?

Thank you sooo much for everything you do.

Sincerely,

Amber Worth

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Posted by admin on Saturday, June 8th, 2013 @ 11:20AM
Categories: PNF Fighter Stories