Walking With Giants Foundation
Supporting Individuals and Families Affected By Microcephalic Primordial Dwarfism

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Nailah

Nailah

nailah2Nailah Shah my second child was born by emergency caesarean section and was 6 weeks premature. I went to Whipps Cross hospital for a routine check-up and within the hour Nailah was born and was immediately rushed off to SCBU.

I was told that the reason for her early arrival was due to her having severe IUGR.

Nailah was born weighing 1.04kg (approximately 2lb) and was very small, her skin was blue in colour and she had no flesh on her bones. At the time it was all too much to take in so i didn't ask too many questions as to why she looked the way she did because I thought she would get better and quickly.

In total, she was in SCBU for 9 weeks which to me felt like forever as i just wanted to get her home. During her time in SCBU her weight gain was very poor so she was put onto high calorie formula milk called Infantrini and she was fed by a Naso Gastric tube.

She was also on oxygen via nasal prongs for 21 days but it seemed like ages. Twice a week the nurses attempted to remove the prongs but her saturation levels would drop within the hour. When she finally came off the oxygen i was scared that if i left her and came back later, she would be on it again; but luckily she managed to stay off the oxygen.

I would look around the room and see how well the other children were doing and felt like Nailah was not improving at all. Her size and weight was not normal or healthy for a new born child.

I hated seeing her with all the different tubes coming out of her and I felt guilty that it was my fault that she was going through this. Perhaps I did something wrong during my pregnancy? I was confused and scared. The staff at Whipps Cross hospital were very understanding and helpful. They put my mind at ease and helped me remain patient during the long weeks.

At the age of 6 weeks it was discovered that Nailah had a heart condition so she was taken to Great Ormond Street Hospital (GOSH) where they discovered she had Pulmonary Stenosis and the muscles of the left hand side of her heart were thicker than normal. We were told that this could not be treated but could be controlled using Captopril medication.

It was also discovered that some of her joints were really tight but the physiotherapists showed me some exercises that I had to do on a regular basis with her that helped loosen the joints. It was not easy for us as a family as we spent most the time in and out of the hospital.

Once the Oxygen was removed all we had to conquer was the feeding and luckily within the week she started to take all feeds orally via the bottle.

After 9 weeks in special care she was allowed to come home and as far as we knew everything was fine but her weight gain was a problem as it was very slow. We were referred to the geneticist at GOSH.

Every time we visited the hospital they would take more and more blood which was a big discomfort for Nailah and every time they were unable to clarify what the problem was because the test results were coming back negative. I remember once they took 27ml of blood from her tiny body in one go and it was very difficult for her.

After being at home for 4 months Nailah started to lose weight and would cry to every bottle feed. She would end up spitting out the milk and taking very long to drink it. As soon as the bottle would be complete she would vomit the milk back up again. This was a repeated occurrence with Nailah for the next couple of months.

After waiting a further 2 months it was then decide by the Pediatrician and the Dietician that the weight loss was happening too rapidly and so we had to go into hospital for a week for the NG tube to be put down. In the beginning she used to pull the tube out so i had to be trained on how to place the tube on her which was horrible as i did not like to see her suffering in pain.

Shortly after her first birthday we were called to have an appointment at GOSH with the Geneticist and they decided to do a full Skeletal Survey for her. Meanwhile other teams such as Endocrine, Metabolic, Cardiac and Gastro were all also involved in Nailah's care. Once the results had come back from the survey, we were told that Nailah may have MOPD2 but her bloods would have to be sent off to Edinburgh for testing.

At the same time, it was found that she had Dysplasia of the hips and Thoratic Khyposis (curve in her spine) so she was referred to the Orthopedics department. She was the placed in a hip spica cast for 9 weeks to see if it would help but it made no difference. We are now waiting for her hips to be operated on.

After waiting a long 9 months the genetics results came back and it was negative but we were told by the geneticist that is was most likely to be a form of Primordial Dwarfism. I was advised not to look on the internet as the information might not be correct because there were many different symptoms.

I had never felt so alone and didn't know what to do. After going on the Google Search Engine and typing in MOPD2, I came across the Walking With Giants Foundation. At first I was scared of contacting them as I did not know what to expect, but one day I plucked up the courage and contacted them. After speaking to Sue Connerty, who heads the charity, I felt a huge burden had been lifted from my shoulders and I no longer felt I was alone and that there were other families were going through the same experience.

I was invited to the WWGF 5th annual convention in Liverpool and after attending it I came back more confident than ever because it helped me discover that there is such as strong support network out there which I knew nothing about. It was great meeting all the other families and the support that I received from both Sue and John Connerty was great as they made us feel very welcome. Forming a friendship with all the families at Walking with Giants has been life changing and I see it as nothing but beneficial for the long term future for my daughter.

In July 2013 with the support of WWGF, we as a family were able to attend Little People of America conference in Washington DC, where we met many other families that had children with Primordial Dwarfism. At the conference we were given an official diagnosis of Schimke Immuno Osseous Dysplasia – PD type.

Shahenaz and Wajid - Nailah's Parents (Ireland)
August 2013

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